402 chr11 18429071 18429071 1 + C G rs76818137 18429086 + 18429066 18429106 41 TCTGCCACCTCTGACGCACCACTGCCAATGCTGTACGTACT TCTGCGACCTCTGACGCACCACTGCCAATGCTGTACGTACT < 41bp 1 0.247355024472637 NA NA experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control LDHA ENSG00000134333 UTR3 Human protein_coding chr11:18429086 chr11:18429071 . . 0 6 hm6Am_associated_SNPs_27 1 Uncertain significance Glycogen storage disease XI RCV000381791.1
402 chr15 91346807 91346807 1 + C T COAD 91346806 + 91346786 91346826 41 GGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACT GGAAAAGGATCTGCTTATTCATGACACAATGCCGAAAGACT < 41bp 1 0.131397036111324 NA NA experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91346806 chr15:91346807 stopgain 1.000 1 22 hm6Am_associated_SNPs_67 1 Pathogenic Bloom syndrome RCV000144576.1
402 chr15 91346818 91346818 1 + C T HNSC 91346806 + 91346786 91346826 41 GGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACT GGAAAAGGATCTGCTTATTCACGACACAATGCTGAAAGACT < 41bp 1 0.175679855890415 NA NA experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91346806 chr15:91346818 synonymous SNV . 0 33 hm6Am_associated_SNPs_86 1 Likely benign Bloom syndrome RCV000457008.1
402 chr15 91346819 91346819 1 + G A STAD 91346806 + 91346786 91346826 41 GGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACT GGAAAAGGATCTGCTTATTCACGACACAATGCCAAAAGACT < 41bp 1 0.195914785835005 NA NA experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91346806 chr15:91346819 nonsynonymous SNV 0.996 2 34 hm6Am_associated_SNPs_151 2 Uncertain significance not specified RCV000115307.2
402 chr15 91346819 91346819 1 + G A STAD 91346806 + 91346786 91346826 41 GGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACT GGAAAAGGATCTGCTTATTCACGACACAATGCCAAAAGACT < 41bp 1 0.195914785835005 NA NA experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91346806 chr15:91346819 nonsynonymous SNV 0.996 2 34 hm6Am_associated_SNPs_151 2 Uncertain significance Bloom syndrome RCV000475273.1
402 chr11 118955716 118955716 1 + A C rs201349602 118955716 + 118955696 118955736 41 GGGGGACCTTAGCGGCACCCACACACAGCCTACTTTCCAAG GGGGGACCTTAGCGGCACCCCCACACAGCCTACTTTCCAAG Direct Loss 0.997875729403968 0 NA NA prediction 0.995751458807936 Functional Loss - HMBS ENSG00000256269 UTR5 Human protein_coding chr11:118955716 chr11:118955716 . . 0 21 hm6Am_associated_SNPs_207 1 Likely benign Acute intermittent porphyria RCV000345889.1
402 chr5 147443547 147443547 1 + A C rs74572734 147443547 + 147443527 147443567 41 GCATCGCCCCGAGTTCAGTCATACTGCACCAGCTGAGCAAT GCATCGCCCCGAGTTCAGTCCTACTGCACCAGCTGAGCAAT Direct Loss 0.996741046886259 0 NA NA prediction 0.993482093772519 Functional Loss - SPINK5 ENSG00000133710 UTR5 Human protein_coding chr5:147443547 chr5:147443547 . . 0 21 hm6Am_associated_SNPs_235 1 Likely benign Netherton syndrome RCV000305125.1
402 chr14 96001383 96001383 1 + A C rs911681 96001383 + 96001363 96001403 41 GGGGAGCGCTCTGGGTGGCCAGCTGTGGGCCCGGGCCGTCG GGGGAGCGCTCTGGGTGGCCCGCTGTGGGCCCGGGCCGTCG Direct Loss 0.996117346234337 0 NA NA prediction 0.992234692468674 Functional Loss - GLRX5 ENSG00000182512 UTR5 Human protein_coding chr14:96001383 chr14:96001383 . . 0 21 hm6Am_associated_SNPs_249 1 Benign not specified RCV000444387.1
402 chr3 129247551 129247551 1 + A G rs7984 129247551 + 129247531 129247571 41 ATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCA ATTCTTGGGTGGGAGCAGCCGCGGGTCAGCCACAAGGGCCA Direct Loss 0.993976513444219 0 NA NA prediction 0.987953026888438 Functional Loss - RHO ENSG00000163914 UTR5 Human protein_coding chr3:129247551 chr3:129247551 . . 0 21 hm6Am_associated_SNPs_323 3 Benign not specified RCV000244948.1
402 chr3 129247551 129247551 1 + A G rs7984 129247551 + 129247531 129247571 41 ATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCA ATTCTTGGGTGGGAGCAGCCGCGGGTCAGCCACAAGGGCCA Direct Loss 0.993976513444219 0 NA NA prediction 0.987953026888438 Functional Loss - RHO ENSG00000163914 UTR5 Human protein_coding chr3:129247551 chr3:129247551 . . 0 21 hm6Am_associated_SNPs_323 3 Benign Retinitis Pigmentosa, Dominant/Recessive RCV000285210.1
402 chr3 129247551 129247551 1 + A G rs7984 129247551 + 129247531 129247571 41 ATTCTTGGGTGGGAGCAGCCACGGGTCAGCCACAAGGGCCA ATTCTTGGGTGGGAGCAGCCGCGGGTCAGCCACAAGGGCCA Direct Loss 0.993976513444219 0 NA NA prediction 0.987953026888438 Functional Loss - RHO ENSG00000163914 UTR5 Human protein_coding chr3:129247551 chr3:129247551 . . 0 21 hm6Am_associated_SNPs_323 3 Benign Congenital Stationary Night Blindness, Dominant RCV000377312.1
402 chr17 57184058 57184058 1 + T C rs371575547 57184058 - 57184038 57184078 41 GGGAGAAAGGAGCTGCGGCCACCGTTCGCCCTACTTCTGCG GGGAGAAAGGAGCTGCGGCCGCCGTTCGCCCTACTTCTGCG Direct Loss 0.993145269440241 0 NA NA prediction 0.986290538880482 Functional Loss - TRIM37 ENSG00000224738 ncRNA_exonic Human antisense chr17:57184058 chr17:57184058 . . 0 21 hm6Am_associated_SNPs_341 1 Likely benign Mulibrey nanism syndrome RCV000365210.1
402 chr17 7123240 7123240 1 + T C rs77051465 7123240 - 7123220 7123260 41 CTCTGGCGTCCTGCACGCCCACGTCCTGGCGCCCCTAACCC CTCTGGCGTCCTGCACGCCCGCGTCCTGGCGCCCCTAACCC Direct Loss 0.992882469792439 0 NA NA prediction 0.985764939584878 Functional Loss - ACADVL;DLG4 ENSG00000072778 UTR5 Human protein_coding chr17:7123240 chr17:7123240 . . 0 21 hm6Am_associated_SNPs_347 1 Uncertain significance Very long chain acyl-CoA dehydrogenase deficiency RCV000299039.1
402 chr2 217277330 217277330 1 + A G rs115172989 217277330 + 217277310 217277350 41 CTGCAGTCGCGCCTGGGGTCAGGGCCGGGGGCGAATGTGGC CTGCAGTCGCGCCTGGGGTCGGGGCCGGGGGCGAATGTGGC Direct Loss 0.991363643400083 0 NA NA prediction 0.982727286800165 Functional Loss - SMARCAL1 ENSG00000235042 ncRNA_exonic Human antisense chr2:217277330 chr2:217277330 . . 0 21 hm6Am_associated_SNPs_386 1 Likely benign Schimke immunoosseous dysplasia RCV000377672.1
402 chr20 2361613 2361613 1 + A G rs80329336 2361613 + 2361593 2361633 41 GAGGAGTCCAGCTGGCCTTCACATGGCAGGTAAGTGGGCAG GAGGAGTCCAGCTGGCCTTCGCATGGCAGGTAAGTGGGCAG Direct Loss 0.990852434710088 0 NA NA prediction 0.981704869420177 Functional Loss - TGM6 ENSG00000166948 UTR5 Human protein_coding chr20:2361613 chr20:2361613 . . 0 21 hm6Am_associated_SNPs_400 1 Likely benign Spinocerebellar Ataxia, Dominant RCV000360240.1
402 chr1 21889703 21889703 1 + C G rs184095519 21889705 + 21889685 21889725 41 CCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAAC CCGTGGGGGTAAGCGCAGGCACTGAGCGTTCCCGGTGCAAC < 41bp 0.859691293123632 0.57243718480532 NA NA prediction 0.574508216636625 Functional Loss - ALPL ENSG00000162551 CDS Human protein_coding chr1:21889705 chr1:21889703 nonsynonymous SNV 0.076 2 19 hm6Am_associated_SNPs_641 1 Uncertain significance not specified RCV000178776.1
402 chr20 61467564 61467564 1 + C G rs142066316 61467566 + 61467546 61467586 41 GTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCCAAC GTCGAGGGGAGCTGGGCCGCAAAGGCACCCAGGGTCCCAAC < 41bp 0.776049772902213 0.440138836747357 NA NA prediction 0.552099545804426 Functional Loss - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467566 chr20:61467564 nonsynonymous SNV 0.999 5 19 hm6Am_associated_SNPs_691 2 Benign not specified RCV000242013.1
402 chr20 61467564 61467564 1 + C G rs142066316 61467566 + 61467546 61467586 41 GTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCCAAC GTCGAGGGGAGCTGGGCCGCAAAGGCACCCAGGGTCCCAAC < 41bp 0.776049772902213 0.440138836747357 NA NA prediction 0.552099545804426 Functional Loss - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467566 chr20:61467564 nonsynonymous SNV 0.999 5 19 hm6Am_associated_SNPs_691 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000389715.1
402 chrX 47426121 47426121 1 + C G LUAD 47426123 + 47426103 47426143 41 AGCGCATCCGCTCCACGTCCACTCCCAACGTCCATATGGTC AGCGCATCCGCTCCACGTGCACTCCCAACGTCCATATGGTC < 41bp 0.771764261386012 0.417736529635525 NA NA prediction 0.543528522772025 Functional Loss - ARAF ENSG00000078061 CDS Human protein_coding chrX:47426123 chrX:47426121 nonsynonymous SNV 0.994 4 19 hm6Am_associated_SNPs_720 4 not provided Non-small cell lung cancer RCV000419218.1
402 chrX 47426121 47426121 1 + C G LUAD 47426123 + 47426103 47426143 41 AGCGCATCCGCTCCACGTCCACTCCCAACGTCCATATGGTC AGCGCATCCGCTCCACGTGCACTCCCAACGTCCATATGGTC < 41bp 0.771764261386012 0.417736529635525 NA NA prediction 0.543528522772025 Functional Loss - ARAF ENSG00000078061 CDS Human protein_coding chrX:47426123 chrX:47426121 nonsynonymous SNV 0.994 4 19 hm6Am_associated_SNPs_720 4 Likely pathogenic Malignant melanoma of skin RCV000427514.1
402 chrX 47426121 47426121 1 + C G LUAD 47426123 + 47426103 47426143 41 AGCGCATCCGCTCCACGTCCACTCCCAACGTCCATATGGTC AGCGCATCCGCTCCACGTGCACTCCCAACGTCCATATGGTC < 41bp 0.771764261386012 0.417736529635525 NA NA prediction 0.543528522772025 Functional Loss - ARAF ENSG00000078061 CDS Human protein_coding chrX:47426123 chrX:47426121 nonsynonymous SNV 0.994 4 19 hm6Am_associated_SNPs_720 4 Likely pathogenic Papillary renal cell carcinoma, sporadic RCV000430187.1
402 chrX 47426121 47426121 1 + C G LUAD 47426123 + 47426103 47426143 41 AGCGCATCCGCTCCACGTCCACTCCCAACGTCCATATGGTC AGCGCATCCGCTCCACGTGCACTCCCAACGTCCATATGGTC < 41bp 0.771764261386012 0.417736529635525 NA NA prediction 0.543528522772025 Functional Loss - ARAF ENSG00000078061 CDS Human protein_coding chrX:47426123 chrX:47426121 nonsynonymous SNV 0.994 4 19 hm6Am_associated_SNPs_720 4 Likely pathogenic Adenocarcinoma of lung RCV000436910.1
402 chr11 17632306 17632306 1 + C G rs1003490 17632308 + 17632288 17632328 41 GCACATCTGCCCCAGTGGCCACACCCGGCCCCAAAGCCTCT GCACATCTGCCCCAGTGGGCACACCCGGCCCCAAAGCCTCT < 41bp 0.751922552938726 0.406527382248237 NA NA prediction 0.503845105877452 Functional Loss - OTOG ENSG00000188162 CDS Human protein_coding chr11:17632308 chr11:17632306 nonsynonymous SNV 0.967 1 19 hm6Am_associated_SNPs_839 1 Benign not specified RCV000217901.1
402 chr10 99498313 99498313 1 + C G rs34979921 99498312 + 99498292 99498332 41 GAGGCTCCCCTGGAGTCTCCACCTTTTCCTACCAAGTCCCC GAGGCTCCCCTGGAGTCTCCAGCTTTTCCTACCAAGTCCCC < 41bp 0.742831206648886 0.501368125574652 NA NA prediction 0.482926162148469 Functional Loss - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99498312 chr10:99498313 nonsynonymous SNV 0.008 1 22 hm6Am_associated_SNPs_903 2 Likely benign Spastic Paraplegia, Dominant RCV000324523.1
402 chr10 99498313 99498313 1 + C G rs34979921 99498312 + 99498292 99498332 41 GAGGCTCCCCTGGAGTCTCCACCTTTTCCTACCAAGTCCCC GAGGCTCCCCTGGAGTCTCCAGCTTTTCCTACCAAGTCCCC < 41bp 0.742831206648886 0.501368125574652 NA NA prediction 0.482926162148469 Functional Loss - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99498312 chr10:99498313 nonsynonymous SNV 0.008 1 22 hm6Am_associated_SNPs_903 2 Benign Spastic paraplegia RCV000462621.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Arachnodactyly RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Delayed speech and language development RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Dolichocephaly RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Hearing impairment RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance High palate RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Joint hypermobility RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Long face RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Mitral valve prolapse RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Scoliosis RCV000415441.1
402 chrX 152037592 152037592 1 + C G rs142351862 152037591 + 152037571 152037611 41 AAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGC AAGGCCATGGGCTACCAGCCAGTAGTGACCATGGATGATGC < 41bp 0.77257537831598 0.534570275022086 NA NA prediction 0.476010206587789 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037591 chrX:152037592 nonsynonymous SNV 0.890 1 22 hm6Am_associated_SNPs_932 10 Uncertain significance Tall stature RCV000415441.1
402 chr7 4831781 4831781 1 + C G rs114829927 4831783 + 4831763 4831803 41 GTGTCTGGGCGTGCGGCCCCAGCCCCGCCACCTTCCTGGGC GTGTCTGGGCGTGCGGCCGCAGCCCCGCCACCTTCCTGGGC < 41bp 0.722961002168182 0.363913716806311 NA NA prediction 0.445922004336364 Functional Loss - AP5Z1 ENSG00000242802 downstream Human protein_coding chr7:4831783 chr7:4831781 . . 0 19 hm6Am_associated_SNPs_1061 1 Likely benign Spastic Paraplegia, Recessive RCV000400897.1
402 chr22 18571844 18571844 1 + T G rs79085553 18571846 + 18571826 18571866 41 AGTCTTGCTCTGTTACGCTCAGTGCCTCTGCCCACTCTTTC AGTCTTGCTCTGTTACGCGCAGTGCCTCTGCCCACTCTTTC < 41bp 0.719814987723234 0.311659111817779 NA NA prediction 0.439629975446469 Functional Loss - PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18571846 chr22:18571844 . . 0 19 hm6Am_associated_SNPs_1080 1 Likely benign Zellweger syndrome RCV000323003.1
402 chr2 211421429 211421429 1 + T G rs147937942 211421431 + 211421411 211421451 41 CATAAAATTTATGTAATTTCATTTAATTTTAGCCACAAATC CATAAAATTTATGTAATTGCATTTAATTTTAGCCACAAATC < 41bp 0.866888998268395 0.656508975313323 NA NA prediction 0.420760045910144 Functional Loss - CPS1 ENSG00000021826 UTR5 Human protein_coding chr2:211421431 chr2:211421429 . . 0 19 hm6Am_associated_SNPs_1166 2 Uncertain significance Congenital hyperammonemia, type I RCV000322463.1
402 chr2 211421429 211421429 1 + T G rs147937942 211421431 + 211421411 211421451 41 CATAAAATTTATGTAATTTCATTTAATTTTAGCCACAAATC CATAAAATTTATGTAATTGCATTTAATTTTAGCCACAAATC < 41bp 0.866888998268395 0.656508975313323 NA NA prediction 0.420760045910144 Functional Loss - CPS1 ENSG00000021826 UTR5 Human protein_coding chr2:211421431 chr2:211421429 . . 0 19 hm6Am_associated_SNPs_1166 2 Benign not specified RCV000437055.1
402 chr9 119461145 119461145 1 + T G COAD 119461143 + 119461123 119461163 41 CCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAG CCAGGAATGTTCAATCTTCCAGGCAGTCTCTACGTGACCAG < 41bp 0.70098999334489 0.493849692430705 NA NA prediction 0.40197998668978 Functional Loss - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119461143 chr9:119461145 nonsynonymous SNV 1.000 3 23 hm6Am_associated_SNPs_1289 1 Uncertain significance not specified RCV000260765.1
402 chr14 90422253 90422253 1 + G T rs577403021 90422255 + 90422235 90422275 41 CCAGGGTTTGAACTGCGCGCATGCGCGGCGGCCGCCGAAGG CCAGGGTTTGAACTGCGCTCATGCGCGGCGGCCGCCGAAGG < 41bp 0.526422148086193 0.870016801965904 NA NA prediction 0.687189307759421 Functional Gain - TDP1 ENSG00000042088 UTR5 Human protein_coding chr14:90422255 chr14:90422253 . . 0 19 hm6Am_associated_SNPs_1360 1 Uncertain significance Spinocerebellar Ataxia, Recessive RCV000343356.1
402 chr20 13765897 13765897 1 + G C rs139219896 13765899 + 13765879 13765919 41 GAAGAACTGGGCAGCCCGGCAGCCCGAGCCGACCAAATTTG GAAGAACTGGGCAGCCCGCCAGCCCGAGCCGACCAAATTTG < 41bp 0.49517480277772 0.818149254719457 NA NA prediction 0.636298509438914 Functional Gain - NDUFAF5 ENSG00000101247 CDS Human protein_coding chr20:13765899 chr20:13765897 synonymous SNV . 0 19 hm6Am_associated_SNPs_1505 1 other not specified RCV000194103.2
402 chr1 11848068 11848068 1 + G C rs1537514 11848070 + 11848050 11848090 41 GCCCTGAGCCCAGAGCCTGCAAAGCCCAAAGCAAGGCCCAT GCCCTGAGCCCAGAGCCTCCAAAGCCCAAAGCAAGGCCCAT < 41bp 0.519992696902167 0.827646400982593 NA NA prediction 0.615307408160853 Functional Gain - C1orf167 ENSG00000215910 CDS Human protein_coding chr1:11848070 chr1:11848068 nonsynonymous SNV 0.003 1 19 hm6Am_associated_SNPs_1586 1 Likely benign Neural tube defects, folate-sensitive RCV000354545.1
402 chr4 126238090 126238090 1 + G T rs143534324 126238092 + 126238072 126238112 41 TGGACCACCGCTCCTACCGCATCATCCGCGGCAATGAGGCG TGGACCACCGCTCCTACCTCATCATCCGCGGCAATGAGGCG < 41bp 0.423485412885049 0.79140946808562 NA NA prediction 0.582818936171239 Functional Gain - FAT4 ENSG00000196159 CDS Human protein_coding chr4:126238092 chr4:126238090 nonsynonymous SNV 0.990 2 19 hm6Am_associated_SNPs_1712 1 Likely benign not specified RCV000427721.1
402 chr17 61565990 61565990 1 + G C rs4341 61565992 + 61565972 61566012 41 TAAGGGCTGGAGCTCAAGGCATTCAAACCCCTACCAGATCT TAAGGGCTGGAGCTCAAGCCATTCAAACCCCTACCAGATCT < 41bp 0.593633148778409 0.864090481365004 NA NA prediction 0.54091466517319 Functional Gain - ACE ENSG00000159640 UTR3 Human protein_coding chr17:61565992 chr17:61565990 . . 0 19 hm6Am_associated_SNPs_1867 1 Benign not specified RCV000246979.1
402 chr11 65838059 65838059 1 + G A rs75352646 65838061 + 65838041 65838081 41 CCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGC CCCTCAGCAGCCGCCGCCACAGCAGCAGCAGCAGCAGCCGC < 41bp 0.500676666328149 0.750651189060284 NA NA prediction 0.499949045464269 Functional Gain - PACS1 ENSG00000175115 CDS Human protein_coding chr11:65838061 chr11:65838059 synonymous SNV . 0 19 hm6Am_associated_SNPs_2082 1 Likely benign not specified RCV000117885.2
402 chr16 56995983 56995983 1 + G A UVM 56995985 + 56995965 56996005 41 AGGCAGGCATCGTGTGCCGCATCACCAAGCCTGCCCTCCTG AGGCAGGCATCGTGTGCCACATCACCAAGCCTGCCCTCCTG < 41bp 0.519576224576865 0.768684630524029 NA NA prediction 0.498216811894327 Functional Gain - CETP ENSG00000087237 CDS Human protein_coding chr16:56995985 chr16:56995983 nonsynonymous SNV 0.960 2 19 hm6Am_associated_SNPs_2096 1 Uncertain significance Hyperalphalipoproteinemia RCV000389076.1
402 chr16 88872496 88872496 1 + G C rs143149360 88872495 + 88872475 88872515 41 GCGACGGCAGATCTTCAGCCAGAAGCTGGTGGAGCATGTCA GCGACGGCAGATCTTCAGCCACAAGCTGGTGGAGCATGTCA < 41bp 0.48821103176674 0.746467124862193 NA NA prediction 0.492934249724385 Functional Gain - CDT1 ENSG00000167513 CDS Human protein_coding chr16:88872495 chr16:88872496 nonsynonymous SNV 0.882 0 22 hm6Am_associated_SNPs_2187 1 Uncertain significance not provided RCV000116637.1
402 chr14 29237297 29237297 1 + G A STAD 29237299 + 29237279 29237319 41 TCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACC TCATCGGCGGCACCACGGACAAGCTGCGGCGCCGCTCCACC < 41bp 0.531322811417507 0.776300154841732 NA NA prediction 0.489954686848448 Functional Gain - FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237299 chr14:29237297 nonsynonymous SNV 0.998 4 19 hm6Am_associated_SNPs_2242 1 Likely pathogenic not provided RCV000187466.1
402 chr2 233399868 233399868 1 + G A rs148939701 233399870 + 233399850 233399890 41 GCTGGAACCGAGTGGCCCGCACAGTGGACCGCCTCTGCCTG GCTGGAACCGAGTGGCCCACACAGTGGACCGCCTCTGCCTG < 41bp 0.530840648882195 0.773487480189742 NA NA prediction 0.485293662615094 Functional Gain - CHRND ENSG00000135902 CDS Human protein_coding chr2:233399870 chr2:233399868 nonsynonymous SNV 0.999 5 19 hm6Am_associated_SNPs_2336 1 other not specified RCV000174260.2
402 chr6 129807629 129807629 1 + C T rs2229848 129807627 - 129807607 129807647 41 CCCCTGTTGAGGAGTATTGCATAATAGGCCTGCAACAGCAA CCCCTGTTGAGGAGTATTACATAATAGGCCTGCAACAGCAA < 41bp 0.491366526689816 0.742152562959025 NA NA prediction 0.484305125918051 Functional Gain - LAMA2 ENSG00000196569 CDS Human protein_coding chr6:129807627 chr6:129807629 nonsynonymous SNV 0.894 3 19 hm6Am_associated_SNPs_2360 1 Benign not specified RCV000153440.2
402 chr11 10476913 10476913 1 + G T rs28403593 10476915 + 10476895 10476935 41 TCCTGTGGGTCACTTGAGGCAGGCTCCACCTTCCCCAGGAG TCCTGTGGGTCACTTGAGTCAGGCTCCACCTTCCCCAGGAG < 41bp 0.681344327927556 0.921995342420433 NA NA prediction 0.481302028985754 Functional Gain - AMPD3 ENSG00000133805 UTR5 Human protein_coding chr11:10476915 chr11:10476913 . . 0 19 hm6Am_associated_SNPs_2419 1 Likely benign Erythrocyte AMP deaminase deficiency RCV000365650.1
402 chr11 86663296 86663296 1 + G A rs61735303 86663298 + 86663278 86663318 41 GGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCT GGGTTTTGTGAGGTAAGGACACCTCTTCATCACCTGGCCCT < 41bp 0.492059459683725 0.74041027632658 NA NA prediction 0.480820552653161 Functional Gain - FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663298 chr11:86663296 nonsynonymous SNV 0.991 1 19 hm6Am_associated_SNPs_2431 2 Likely benign Familial exudative vitreoretinopathy RCV000368489.1
402 chr11 86663296 86663296 1 + G A rs61735303 86663298 + 86663278 86663318 41 GGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCT GGGTTTTGTGAGGTAAGGACACCTCTTCATCACCTGGCCCT < 41bp 0.492059459683725 0.74041027632658 NA NA prediction 0.480820552653161 Functional Gain - FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663298 chr11:86663296 nonsynonymous SNV 0.991 1 19 hm6Am_associated_SNPs_2431 2 Benign not specified RCV000455735.1
402 chr10 99509251 99509251 1 + G T rs35077384 99509253 + 99509233 99509273 41 TCTATGGGGCTCTTCTGGGCACAGTCTGCATGCTGTATTTG TCTATGGGGCTCTTCTGGTCACAGTCTGCATGCTGTATTTG < 41bp 0.694325732323228 0.930729183354881 NA NA prediction 0.472806902063305 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99509253 chr10:99509251 nonsynonymous SNV 0.896 2 19 hm6Am_associated_SNPs_2614 5 Pathogenic Spastic paraplegia 33, autosomal dominant RCV000001352.6
402 chr10 99509251 99509251 1 + G T rs35077384 99509253 + 99509233 99509273 41 TCTATGGGGCTCTTCTGGGCACAGTCTGCATGCTGTATTTG TCTATGGGGCTCTTCTGGTCACAGTCTGCATGCTGTATTTG < 41bp 0.694325732323228 0.930729183354881 NA NA prediction 0.472806902063305 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99509253 chr10:99509251 nonsynonymous SNV 0.896 2 19 hm6Am_associated_SNPs_2614 5 Likely benign Spastic Paraplegia, Dominant RCV000297935.1
402 chr10 99509251 99509251 1 + G T rs35077384 99509253 + 99509233 99509273 41 TCTATGGGGCTCTTCTGGGCACAGTCTGCATGCTGTATTTG TCTATGGGGCTCTTCTGGTCACAGTCTGCATGCTGTATTTG < 41bp 0.694325732323228 0.930729183354881 NA NA prediction 0.472806902063305 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99509253 chr10:99509251 nonsynonymous SNV 0.896 2 19 hm6Am_associated_SNPs_2614 5 Benign not specified RCV000407569.1
402 chr10 99509251 99509251 1 + G T rs35077384 99509253 + 99509233 99509273 41 TCTATGGGGCTCTTCTGGGCACAGTCTGCATGCTGTATTTG TCTATGGGGCTCTTCTGGTCACAGTCTGCATGCTGTATTTG < 41bp 0.694325732323228 0.930729183354881 NA NA prediction 0.472806902063305 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99509253 chr10:99509251 nonsynonymous SNV 0.896 2 19 hm6Am_associated_SNPs_2614 5 Uncertain significance Spastic tetraparesis RCV000415084.1
402 chr10 99509251 99509251 1 + G T rs35077384 99509253 + 99509233 99509273 41 TCTATGGGGCTCTTCTGGGCACAGTCTGCATGCTGTATTTG TCTATGGGGCTCTTCTGGTCACAGTCTGCATGCTGTATTTG < 41bp 0.694325732323228 0.930729183354881 NA NA prediction 0.472806902063305 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99509253 chr10:99509251 nonsynonymous SNV 0.896 2 19 hm6Am_associated_SNPs_2614 5 Benign Spastic paraplegia RCV000471962.1
402 chr20 62564354 62564354 1 + G A rs41278220 62564356 + 62564336 62564376 41 GAGGGCTCAGAGCTGCCCGCACTCCGTAGCTCATGGGATGT GAGGGCTCAGAGCTGCCCACACTCCGTAGCTCATGGGATGT < 41bp 0.561794097920765 0.792700565317257 NA NA prediction 0.461812934792983 Functional Gain - DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62564356 chr20:62564354 . . 0 19 hm6Am_associated_SNPs_2850 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000277180.1
402 chr19 11132481 11132481 1 + G A STAD 11132483 + 11132463 11132503 41 GACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCC GACGCAGGTGCTCAACACACACTATGTGGCACCCCGCCGCC < 41bp 0.550174677005858 0.779378425384529 NA NA prediction 0.458407496757342 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11132483 chr19:11132481 synonymous SNV . 0 19 hm6Am_associated_SNPs_2932 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000230986.2
402 chr9 139994211 139994211 1 + G A rs114057640 139994213 + 139994193 139994233 41 ATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGAC ATGCATGGAAAGGATACCACAAGTTTGCATGGGGCCATGAC < 41bp 0.5626869778183 0.791890590367224 NA NA prediction 0.458407225097849 Functional Gain - MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139994213 chr9:139994211 nonsynonymous SNV 0.031 1 19 hm6Am_associated_SNPs_2933 2 Uncertain significance not specified RCV000193998.1
402 chr9 139994211 139994211 1 + G A rs114057640 139994213 + 139994193 139994233 41 ATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGAC ATGCATGGAAAGGATACCACAAGTTTGCATGGGGCCATGAC < 41bp 0.5626869778183 0.791890590367224 NA NA prediction 0.458407225097849 Functional Gain - MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139994213 chr9:139994211 nonsynonymous SNV 0.031 1 19 hm6Am_associated_SNPs_2933 2 Likely benign not provided RCV000224326.1
402 chr16 29824814 29824814 1 + G C rs79568162 29824813 + 29824793 29824833 41 CCCCAACCAGACCCCCGGCCAGATTCCCAGCCTACCCCCAA CCCCAACCAGACCCCCGGCCACATTCCCAGCCTACCCCCAA < 41bp 0.582675123326285 0.810603671990033 NA NA prediction 0.455857097327496 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824813 chr16:29824814 nonsynonymous SNV 0.106 0 22 hm6Am_associated_SNPs_2978 2 Benign not specified RCV000175976.2
402 chr16 29824814 29824814 1 + G C rs79568162 29824813 + 29824793 29824833 41 CCCCAACCAGACCCCCGGCCAGATTCCCAGCCTACCCCCAA CCCCAACCAGACCCCCGGCCACATTCCCAGCCTACCCCCAA < 41bp 0.582675123326285 0.810603671990033 NA NA prediction 0.455857097327496 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824813 chr16:29824814 nonsynonymous SNV 0.106 0 22 hm6Am_associated_SNPs_2978 2 Benign Dystonia 10 RCV000456838.1
402 chr19 11098466 11098466 1 + G A rs571366505 11098468 + 11098448 11098488 41 CTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGC CTCGCCCGTGATGCCACCACAGACCCAGTCCCCCGGGCAGC < 41bp 0.533019876591907 0.759843733363506 NA NA prediction 0.453647713543198 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098468 chr19:11098466 synonymous SNV . 0 19 hm6Am_associated_SNPs_3037 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000462494.1
402 chr12 98927344 98927344 1 + G C rs145703021 98927343 + 98927323 98927363 41 CCTAGACTGAGTGAGAAGTCAGTGGAGGAAAGGGATTCAGG CCTAGACTGAGTGAGAAGTCACTGGAGGAAAGGGATTCAGG < 41bp 0.553985850746645 0.77448287762878 NA NA prediction 0.440994053764271 Functional Gain - TMPO ENSG00000120802 CDS Human protein_coding chr12:98927343 chr12:98927344 nonsynonymous SNV 0.331 1 22 hm6Am_associated_SNPs_3333 4 Likely benign not specified RCV000154858.3
402 chr12 98927344 98927344 1 + G C rs145703021 98927343 + 98927323 98927363 41 CCTAGACTGAGTGAGAAGTCAGTGGAGGAAAGGGATTCAGG CCTAGACTGAGTGAGAAGTCACTGGAGGAAAGGGATTCAGG < 41bp 0.553985850746645 0.77448287762878 NA NA prediction 0.440994053764271 Functional Gain - TMPO ENSG00000120802 CDS Human protein_coding chr12:98927343 chr12:98927344 nonsynonymous SNV 0.331 1 22 hm6Am_associated_SNPs_3333 4 Benign Loeys-Dietz syndrome 2 RCV000228189.2
402 chr12 98927344 98927344 1 + G C rs145703021 98927343 + 98927323 98927363 41 CCTAGACTGAGTGAGAAGTCAGTGGAGGAAAGGGATTCAGG CCTAGACTGAGTGAGAAGTCACTGGAGGAAAGGGATTCAGG < 41bp 0.553985850746645 0.77448287762878 NA NA prediction 0.440994053764271 Functional Gain - TMPO ENSG00000120802 CDS Human protein_coding chr12:98927343 chr12:98927344 nonsynonymous SNV 0.331 1 22 hm6Am_associated_SNPs_3333 4 Uncertain significance Cardiovascular phenotype RCV000249604.1
402 chr12 98927344 98927344 1 + G C rs145703021 98927343 + 98927323 98927363 41 CCTAGACTGAGTGAGAAGTCAGTGGAGGAAAGGGATTCAGG CCTAGACTGAGTGAGAAGTCACTGGAGGAAAGGGATTCAGG < 41bp 0.553985850746645 0.77448287762878 NA NA prediction 0.440994053764271 Functional Gain - TMPO ENSG00000120802 CDS Human protein_coding chr12:98927343 chr12:98927344 nonsynonymous SNV 0.331 1 22 hm6Am_associated_SNPs_3333 4 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000261678.1
402 chr10 88492713 88492713 1 + G A UCEC 88492715 + 88492695 88492735 41 CCCCTGTGCAAGAAGCACGCACACACCATCAACTTGTAGGC CCCCTGTGCAAGAAGCACACACACACCATCAACTTGTAGGC < 41bp 0.475105326135704 0.720029005747874 NA NA prediction 0.440058011495748 Functional Gain - LDB3 ENSG00000122367 CDS Human protein_coding chr10:88492715 chr10:88492713 nonsynonymous SNV 0.764 3 19 hm6Am_associated_SNPs_3362 1 Uncertain significance not specified RCV000156586.1
402 chrX 22051133 22051133 1 + G C rs147859619 22051132 + 22051112 22051152 41 ACGGCCCTTCTGATGGAAGCAGAAACAGGGAGCAGCGTGGA ACGGCCCTTCTGATGGAAGCACAAACAGGGAGCAGCGTGGA < 41bp 0.544431624319315 0.762255504202302 NA NA prediction 0.435647759765972 Functional Gain - PHEX ENSG00000102174 CDS Human protein_coding chrX:22051132 chrX:22051133 nonsynonymous SNV 1.000 3 22 hm6Am_associated_SNPs_3471 2 other Familial X-linked hypophosphatemic vitamin D refractory rickets RCV000366699.1
402 chrX 22051133 22051133 1 + G C rs147859619 22051132 + 22051112 22051152 41 ACGGCCCTTCTGATGGAAGCAGAAACAGGGAGCAGCGTGGA ACGGCCCTTCTGATGGAAGCACAAACAGGGAGCAGCGTGGA < 41bp 0.544431624319315 0.762255504202302 NA NA prediction 0.435647759765972 Functional Gain - PHEX ENSG00000102174 CDS Human protein_coding chrX:22051132 chrX:22051133 nonsynonymous SNV 1.000 3 22 hm6Am_associated_SNPs_3471 2 Likely benign not specified RCV000435979.1
402 chr11 47256343 47256343 1 + G A rs144266685 47256345 + 47256325 47256365 41 GCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCT GCACAAAAAGAAAGTGACACATGTGGCCCTGAACCCATGCT < 41bp 0.466011093475639 0.717382501886334 NA NA prediction 0.434765003772669 Functional Gain - DDB2 ENSG00000134574 CDS Human protein_coding chr11:47256345 chr11:47256343 synonymous SNV . 0 19 hm6Am_associated_SNPs_3485 1 Uncertain significance Xeroderma pigmentosum RCV000265018.1
402 chr4 6303314 6303314 1 + G A rs140125843 6303316 + 6303296 6303336 41 CTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAG CTGGAGCTCACCAAGATCACAGTCACCGTGGCGGTCTGTAG < 41bp 0.459377213332435 0.715032041125843 NA NA prediction 0.430064082251686 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303316 chr4:6303314 nonsynonymous SNV 0.045 1 19 hm6Am_associated_SNPs_3577 1 Likely benign not specified RCV000155346.2
402 chr2 16082393 16082393 1 + G A rs41264199 16082395 + 16082375 16082415 41 CAGCCGTGGCTTCGCGGAGCACAGCTCCGAGCCCCCGAGCT CAGCCGTGGCTTCGCGGAACACAGCTCCGAGCCCCCGAGCT < 41bp 0.62128366870381 0.834575441641021 NA NA prediction 0.426583545874422 Functional Gain - MYCN ENSG00000134323 CDS Human protein_coding chr2:16082395 chr2:16082393 synonymous SNV . 0 19 hm6Am_associated_SNPs_3644 1 Benign not specified RCV000175803.1
402 chr15 67358558 67358558 1 + G A rs187952791 67358560 + 67358540 67358580 41 GGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAAT GGGCTGGAAGAAGGGCGAACAGAACGGGCAGGAGGAGAAAT < 41bp 0.450771894451816 0.711660277879327 NA NA prediction 0.423320555758654 Functional Gain - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67358560 chr15:67358558 synonymous SNV . 0 19 hm6Am_associated_SNPs_3715 3 Benign not specified RCV000198739.3
402 chr15 67358558 67358558 1 + G A rs187952791 67358560 + 67358540 67358580 41 GGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAAT GGGCTGGAAGAAGGGCGAACAGAACGGGCAGGAGGAGAAAT < 41bp 0.450771894451816 0.711660277879327 NA NA prediction 0.423320555758654 Functional Gain - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67358560 chr15:67358558 synonymous SNV . 0 19 hm6Am_associated_SNPs_3715 3 other Thoracic aortic aneurysm and aortic dissection RCV000247846.2
402 chr15 67358558 67358558 1 + G A rs187952791 67358560 + 67358540 67358580 41 GGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAAT GGGCTGGAAGAAGGGCGAACAGAACGGGCAGGAGGAGAAAT < 41bp 0.450771894451816 0.711660277879327 NA NA prediction 0.423320555758654 Functional Gain - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67358560 chr15:67358558 synonymous SNV . 0 19 hm6Am_associated_SNPs_3715 3 Likely benign Loeys-Dietz syndrome RCV000384358.1
402 chr15 65370029 65370029 1 + G A rs543905658 65370031 + 65370011 65370051 41 TTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCT TTTCGTGGCCGACCTGCCACAGCCGGCCGCCGGCGTGCCCT < 41bp 0.449301824186968 0.71082220136955 NA NA prediction 0.421644402739101 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370031 chr15:65370029 synonymous SNV . 0 19 hm6Am_associated_SNPs_3762 1 Likely benign not specified RCV000252601.1
402 chr1 1168492 1168492 1 + G A rs368078922 1168494 + 1168474 1168514 41 CAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACA CAACCAGTACCTGGTGACACACAAGCAGAGCCTGGAGGACA < 41bp 0.600278778617324 0.81072582497236 NA NA prediction 0.420894092710071 Functional Gain - B3GALT6 ENSG00000176022 CDS Human protein_coding chr1:1168494 chr1:1168492 synonymous SNV . 0 19 hm6Am_associated_SNPs_3780 1 Uncertain significance not specified RCV000389593.1
402 chrX 153609287 153609287 1 + G A LUAD 153609289 + 153609269 153609309 41 TGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCT TGCCTACCAGAGCATCACACACTACCGCCCTGTTTCAGCCT < 41bp 0.62346188197532 0.831750939936733 NA NA prediction 0.416578115922825 Functional Gain - EMD ENSG00000102119 CDS Human protein_coding chrX:153609289 chrX:153609287 synonymous SNV . 0 19 hm6Am_associated_SNPs_3892 3 other not specified RCV000035109.4
402 chrX 153609287 153609287 1 + G A LUAD 153609289 + 153609269 153609309 41 TGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCT TGCCTACCAGAGCATCACACACTACCGCCCTGTTTCAGCCT < 41bp 0.62346188197532 0.831750939936733 NA NA prediction 0.416578115922825 Functional Gain - EMD ENSG00000102119 CDS Human protein_coding chrX:153609289 chrX:153609287 synonymous SNV . 0 19 hm6Am_associated_SNPs_3892 3 Likely benign Emery-Dreifuss muscular dystrophy 1, X-linked RCV000228467.2
402 chrX 153609287 153609287 1 + G A LUAD 153609289 + 153609269 153609309 41 TGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCT TGCCTACCAGAGCATCACACACTACCGCCCTGTTTCAGCCT < 41bp 0.62346188197532 0.831750939936733 NA NA prediction 0.416578115922825 Functional Gain - EMD ENSG00000102119 CDS Human protein_coding chrX:153609289 chrX:153609287 synonymous SNV . 0 19 hm6Am_associated_SNPs_3892 3 Likely benign Cardiovascular phenotype RCV000248685.1
402 chr15 45899220 45899220 1 + G C rs142031361 45899219 + 45899199 45899239 41 TTGAACAGTTGAATTTCATCAGAAGCTCTATAGCTTTTTGG TTGAACAGTTGAATTTCATCACAAGCTCTATAGCTTTTTGG < 41bp 0.590339458797669 0.798578102865195 NA NA prediction 0.416477288135052 Functional Gain - BLOC1S6 ENSG00000104164 UTR3 Human protein_coding chr15:45899219 chr15:45899220 . . 0 22 hm6Am_associated_SNPs_3895 1 Uncertain significance Hermansky-Pudlak syndrome RCV000362109.1
402 chr20 57875916 57875916 1 + G A rs11570255 57875918 + 57875898 57875938 41 CTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCG CTCACAGTGACCTCCGCCACAGGTAAGCGCACGGGGCGGCG < 41bp 0.444179625127026 0.705655878444606 NA NA prediction 0.411311756889213 Functional Gain - EDN3 ENSG00000124205 CDS Human protein_coding chr20:57875918 chr20:57875916 nonsynonymous SNV 0.998 2 19 hm6Am_associated_SNPs_4017 3 other Hirschsprung disease 4 RCV000018126.3
402 chr20 57875916 57875916 1 + G A rs11570255 57875918 + 57875898 57875938 41 CTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCG CTCACAGTGACCTCCGCCACAGGTAAGCGCACGGGGCGGCG < 41bp 0.444179625127026 0.705655878444606 NA NA prediction 0.411311756889213 Functional Gain - EDN3 ENSG00000124205 CDS Human protein_coding chr20:57875918 chr20:57875916 nonsynonymous SNV 0.998 2 19 hm6Am_associated_SNPs_4017 3 Benign not specified RCV000222596.1
402 chr20 57875916 57875916 1 + G A rs11570255 57875918 + 57875898 57875938 41 CTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCG CTCACAGTGACCTCCGCCACAGGTAAGCGCACGGGGCGGCG < 41bp 0.444179625127026 0.705655878444606 NA NA prediction 0.411311756889213 Functional Gain - EDN3 ENSG00000124205 CDS Human protein_coding chr20:57875918 chr20:57875916 nonsynonymous SNV 0.998 2 19 hm6Am_associated_SNPs_4017 3 Likely benign Hirschsprung Disease, Dominant RCV000382674.1
402 chr19 11558275 11558275 1 + G A rs11557488 11558277 + 11558257 11558297 41 CTGCCCACCGACCTTCCAGCACCTTCTGCCCCTGACTTGAC CTGCCCACCGACCTTCCAACACCTTCTGCCCCTGACTTGAC < 41bp 0.444075066134903 0.705123683998933 NA NA prediction 0.410247367997866 Functional Gain - PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11558277 chr19:11558275 nonsynonymous SNV 0.004 0 19 hm6Am_associated_SNPs_4048 2 Benign not specified RCV000080027.6
402 chr19 11558275 11558275 1 + G A rs11557488 11558277 + 11558257 11558297 41 CTGCCCACCGACCTTCCAGCACCTTCTGCCCCTGACTTGAC CTGCCCACCGACCTTCCAACACCTTCTGCCCCTGACTTGAC < 41bp 0.444075066134903 0.705123683998933 NA NA prediction 0.410247367997866 Functional Gain - PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11558277 chr19:11558275 nonsynonymous SNV 0.004 0 19 hm6Am_associated_SNPs_4048 2 Benign Polycystic liver disease RCV000381668.1
402 chrX 129149417 129149417 1 + G A rs201843717 129149415 + 129149395 129149435 41 GGACTTCCTGAGGGGCAACCACGGCCTGGGGGCTCCTTCGT GGACTTCCTGAGGGGCAACCACAGCCTGGGGGCTCCTTCGT < 41bp 0.528235821076183 0.729922262928048 NA NA prediction 0.40337288370373 Functional Gain - BCORL1 ENSG00000085185 CDS Human protein_coding chrX:129149415 chrX:129149417 nonsynonymous SNV 1.000 3 23 hm6Am_associated_SNPs_4282 1 Uncertain significance not specified RCV000369096.1
402 chr16 30768964 30768964 1 + C T STAD 30768966 - 30768946 30768986 41 TGCCCCTGCAGGCCACATCCACGTCCTCCGAGCCTACATCA TGCCCCTGCAGGCCACATCCACATCCTCCGAGCCTACATCA < 41bp 0.500160879593561 0.700182395365117 NA NA prediction 0.400043031543112 Functional Gain - CCDC189 ENSG00000196118 CDS Human protein_coding chr16:30768966 chr16:30768964 nonsynonymous SNV 0.002 0 23 hm6Am_associated_SNPs_4424 1 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000391407.1
402 chr1 11994760 11994760 1 + G A rs144465849 11994760 + 11994740 11994780 41 GGGCCCAGTGCGTGGCAGCGGGACCTGCGGCCCCGTCGCGA GGGCCCAGTGCGTGGCAGCGAGACCTGCGGCCCCGTCGCGA Direct Gain 0 0.997610021526809 NA NA prediction 0.995220043053618 Functional Gain - PLOD1 ENSG00000083444 UTR5 Human protein_coding chr1:11994760 chr1:11994760 . . 0 21 hm6Am_associated_SNPs_4446 1 Uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000387162.1
402 chr8 86376181 86376181 1 + C A rs570970117 86376181 + 86376161 86376201 41 CCCCTCCCCCGGGCCGCCCCCGAGCACGAAGTTGGCGGGAG CCCCTCCCCCGGGCCGCCCCAGAGCACGAAGTTGGCGGGAG Direct Gain 0 0.995794025993792 NA NA prediction 0.991588051987584 Functional Gain - CA3-AS1 ENSG00000253549 ncRNA_intronic Human antisense chr8:86376181 chr8:86376181 . . 0 21 hm6Am_associated_SNPs_4499 1 Uncertain significance Osteopetrosis with renal tubular acidosis RCV000356455.1
402 chr18 19751638 19751638 1 + C T rs387906815 19751638 - 19751618 19751658 41 AGCTGGCCGCCGCCGCGGCTGCTGCCGCCGCGGCCGCAGAG AGCTGGCCGCCGCCGCGGCTACTGCCGCCGCGGCCGCAGAG Direct Gain 0 0.995438600446908 NA NA prediction 0.990877200893817 Functional Gain - GATA6 ENSG00000141448 CDS Human protein_coding chr18:19751638 chr18:19751638 nonsynonymous SNV 0.653 4 21 hm6Am_associated_SNPs_4514 1 Pathogenic Atrioventricular septal defect 5 RCV000023130.3
402 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.995158454831626 NA NA prediction 0.990316909663251 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm6Am_associated_SNPs_4531 3 Likely benign not specified RCV000248011.1
402 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.995158454831626 NA NA prediction 0.990316909663251 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm6Am_associated_SNPs_4531 3 Uncertain significance Meier-Gorlin syndrome RCV000307066.1
402 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.995158454831626 NA NA prediction 0.990316909663251 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm6Am_associated_SNPs_4531 3 Likely benign Parkinson Disease, Dominant RCV000333503.1
402 chr3 14166552 14166552 1 + G A rs17038940 14166552 + 14166532 14166572 41 GGGCACAGGGGGAGGTAACTGCAGTAAGTCCCGCTTGGCCC GGGCACAGGGGGAGGTAACTACAGTAAGTCCCGCTTGGCCC Direct Gain 0 0.995119360017718 NA NA prediction 0.990238720035437 Functional Gain - TMEM43 ENSG00000170876 UTR5 Human protein_coding chr3:14166552 chr3:14166552 . . 0 21 hm6Am_associated_SNPs_4532 1 Likely benign Cardiomyopathy, ARVC RCV000342389.1
402 chr9 4490587 4490587 1 + G A rs374187121 4490587 + 4490567 4490607 41 CACCTCTCCCCTGTGCACCCGCATCTCGCCGCGCCGCCGAG CACCTCTCCCCTGTGCACCCACATCTCGCCGCGCCGCCGAG Direct Gain 0 0.994879294202634 NA NA prediction 0.989758588405269 Functional Gain - SLC1A1 ENSG00000106688 UTR5 Human protein_coding chr9:4490587 chr9:4490587 . . 0 21 hm6Am_associated_SNPs_4542 1 Uncertain significance Dicarboxylic aminoaciduria RCV000345939.1
402 chr5 52856471 52856471 1 + C A rs144843461 52856471 + 52856451 52856491 41 GCGGTGATCCGTCCTTTCATCCTGGCGTTTGCCTGCAGCAA GCGGTGATCCGTCCTTTCATACTGGCGTTTGCCTGCAGCAA Direct Gain 0 0.994055996546304 NA NA prediction 0.988111993092608 Functional Gain - NDUFS4 ENSG00000164258 UTR5 Human protein_coding chr5:52856471 chr5:52856471 . . 0 21 hm6Am_associated_SNPs_4593 2 Uncertain significance Leigh syndrome RCV000268982.1
402 chr5 52856471 52856471 1 + C A rs144843461 52856471 + 52856451 52856491 41 GCGGTGATCCGTCCTTTCATCCTGGCGTTTGCCTGCAGCAA GCGGTGATCCGTCCTTTCATACTGGCGTTTGCCTGCAGCAA Direct Gain 0 0.994055996546304 NA NA prediction 0.988111993092608 Functional Gain - NDUFS4 ENSG00000164258 UTR5 Human protein_coding chr5:52856471 chr5:52856471 . . 0 21 hm6Am_associated_SNPs_4593 2 Uncertain significance Mitochondrial complex I deficiency RCV000365896.1
402 chr11 67374410 67374410 1 + G A rs73490568 67374410 + 67374390 67374430 41 CGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCAG CGCCACCTAGCGTCTCTATCACGCCAGTTCCTCAGCCTCAG Direct Gain 0 0.993876549778866 NA NA prediction 0.987753099557732 Functional Gain - NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374410 chr11:67374410 . . 0 21 hm6Am_associated_SNPs_4610 2 Likely benign Leigh syndrome RCV000332823.1
402 chr11 67374410 67374410 1 + G A rs73490568 67374410 + 67374390 67374430 41 CGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCAG CGCCACCTAGCGTCTCTATCACGCCAGTTCCTCAGCCTCAG Direct Gain 0 0.993876549778866 NA NA prediction 0.987753099557732 Functional Gain - NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374410 chr11:67374410 . . 0 21 hm6Am_associated_SNPs_4610 2 Likely benign Mitochondrial complex I deficiency RCV000389913.1
402 chr2 173292379 173292379 1 + G A rs144682022 173292379 + 173292359 173292399 41 CCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGC CCGGACGGAGAGCGCGACCCATCCCGGGGGTGGGGCCGGGC Direct Gain 0 0.993773766596774 NA NA prediction 0.987547533193548 Functional Gain - ITGA6 ENSG00000091409 UTR5 Human protein_coding chr2:173292379 chr2:173292379 . . 0 21 hm6Am_associated_SNPs_4615 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000326633.1
402 chr18 20513338 20513338 1 + G A rs7244973 20513338 + 20513318 20513358 41 GGGCGGGTCCGGCCGCCTCCGAGCCCGGCCGGCAGCCCCCG GGGCGGGTCCGGCCGCCTCCAAGCCCGGCCGGCAGCCCCCG Direct Gain 0 0.993146389586784 NA NA prediction 0.986292779173568 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513338 chr18:20513338 . . 0 21 hm6Am_associated_SNPs_4661 2 Likely benign Seckel syndrome RCV000292217.1
402 chr18 20513338 20513338 1 + G A rs7244973 20513338 + 20513318 20513358 41 GGGCGGGTCCGGCCGCCTCCGAGCCCGGCCGGCAGCCCCCG GGGCGGGTCCGGCCGCCTCCAAGCCCGGCCGGCAGCCCCCG Direct Gain 0 0.993146389586784 NA NA prediction 0.986292779173568 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513338 chr18:20513338 . . 0 21 hm6Am_associated_SNPs_4661 2 Likely benign Microcephaly with mental retardation and digital anomalies RCV000386896.1
402 chr1 231376980 231376980 1 + G A rs113752547 231376980 + 231376960 231377000 41 GTCCTGGCTGAGATGGCGGCGCCCGGGATCCTGTGTAGCGG GTCCTGGCTGAGATGGCGGCACCCGGGATCCTGTGTAGCGG Direct Gain 0 0.993017367435192 NA NA prediction 0.986034734870384 Functional Gain - GNPAT ENSG00000116906 UTR5 Human protein_coding chr1:231376980 chr1:231376980 . . 0 21 hm6Am_associated_SNPs_4677 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000369622.1
402 chr12 124155733 124155733 1 + C A rs78846567 124155733 + 124155713 124155753 41 GTTTTCGTGTCTGAGTCCTTCCTGGGTTCTAATGAGGGCGC GTTTTCGTGTCTGAGTCCTTACTGGGTTCTAATGAGGGCGC Direct Gain 0 0.992565491185623 NA NA prediction 0.985130982371245 Functional Gain - TCTN2 ENSG00000168778 UTR5 Human protein_coding chr12:124155733 chr12:124155733 . . 0 21 hm6Am_associated_SNPs_4712 2 Uncertain significance Meckel-Gruber syndrome RCV000292290.1
402 chr12 124155733 124155733 1 + C A rs78846567 124155733 + 124155713 124155753 41 GTTTTCGTGTCTGAGTCCTTCCTGGGTTCTAATGAGGGCGC GTTTTCGTGTCTGAGTCCTTACTGGGTTCTAATGAGGGCGC Direct Gain 0 0.992565491185623 NA NA prediction 0.985130982371245 Functional Gain - TCTN2 ENSG00000168778 UTR5 Human protein_coding chr12:124155733 chr12:124155733 . . 0 21 hm6Am_associated_SNPs_4712 2 Uncertain significance Joubert syndrome RCV000386675.1
402 chr20 62612521 62612521 1 + G A rs189115287 62612521 + 62612501 62612541 41 TACGGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTC TACGGAGTGCATCGGACGTCAAAGCCTAGAGTCTCTGCGTC Direct Gain 0 0.99251319102433 NA NA prediction 0.985026382048659 Functional Gain - PRPF6 ENSG00000101161 UTR5 Human protein_coding chr20:62612521 chr20:62612521 . . 0 21 hm6Am_associated_SNPs_4716 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000355163.1
402 chr11 119077032 119077032 1 + G A rs548262208 119077032 + 119077012 119077052 41 CGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTC CGGCGGCGGCGGCGGCGGCGACCGGGAGAGGCCCCTCCTTC Direct Gain 0 0.991757058285488 NA NA prediction 0.983514116570976 Functional Gain - CBL ENSG00000110395 UTR5 Human protein_coding chr11:119077032 chr11:119077032 . . 0 21 hm6Am_associated_SNPs_4782 1 Likely benign Noonan-Like Syndrome Disorder RCV000367719.1
402 chr3 181430118 181430118 1 + C T rs56073304 181430118 - 181430098 181430138 41 TGCGCGGGCCCGGCCCGCCGGCGGCCGCCGACCCTCGGCCC TGCGCGGGCCCGGCCCGCCGACGGCCGCCGACCCTCGGCCC Direct Gain 0 0.991722379949498 NA NA prediction 0.983444759898996 Functional Gain - SOX2-OT ENSG00000242808 ncRNA_intronic Human sense_overlapping chr3:181430118 chr3:181430118 . . 0 21 hm6Am_associated_SNPs_4789 1 Benign not specified RCV000440682.1
402 chr14 60976003 60976003 1 + G A STAD 60976003 + 60975983 60976023 41 GCCACCCGGTAGTGTGTCCCGCTGCCCCAATCCGCCTCATC GCCACCCGGTAGTGTGTCCCACTGCCCCAATCCGCCTCATC Direct Gain 0 0.991152509100296 NA NA prediction 0.982305018200591 Functional Gain - SIX6 ENSG00000184302 UTR5 Human protein_coding chr14:60976003 chr14:60976003 . . 0 21 hm6Am_associated_SNPs_4843 1 Uncertain significance Anophthalmia - microphthalmia RCV000315480.1
402 chr4 159593370 159593370 1 + G A rs113981461 159593370 + 159593350 159593390 41 CCTTATCTTTCCCTGGTTTGGTACATGACCCGGAAGCCTCG CCTTATCTTTCCCTGGTTTGATACATGACCCGGAAGCCTCG Direct Gain 0 0.990834319162459 NA NA prediction 0.981668638324918 Functional Gain - ETFDH ENSG00000171503 UTR5 Human protein_coding chr4:159593370 chr4:159593370 . . 0 21 hm6Am_associated_SNPs_4879 1 Likely benign Glutaric aciduria, type 2 RCV000290553.1
402 chr2 190648997 190648997 1 + G A rs5742928 190648997 + 190648977 190649017 41 GCGTTCGTGCCCACTTACCCGCCGCCCCACTCCGGGCCGCC GCGTTCGTGCCCACTTACCCACCGCCCCACTCCGGGCCGCC Direct Gain 0 0.990769308178912 NA NA prediction 0.981538616357824 Functional Gain - ORMDL1;PMS1 ENSG00000128699 UTR5 Human protein_coding chr2:190648997 chr2:190648997 . . 0 21 hm6Am_associated_SNPs_4892 1 Likely benign Lynch syndrome RCV000289225.1
402 chr2 179316216 179316216 1 + G A rs114119504 179316216 + 179316196 179316236 41 TCCGGCGTGGGTCTAGGGTCGTTGAGGCCTAAAGTTAAGCC TCCGGCGTGGGTCTAGGGTCATTGAGGCCTAAAGTTAAGCC Direct Gain 0 0.990717013958309 NA NA prediction 0.981434027916617 Functional Gain - MIR548N ENSG00000204311 UTR5 Human protein_coding chr2:179316216 chr2:179316216 . . 0 21 hm6Am_associated_SNPs_4897 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000352125.1
402 chr11 62380316 62380316 1 + G A rs576371643 62380316 + 62380296 62380336 41 CTCCCTGTCCGGGCCTCGCCGCTCAGTACGGGGGCGGGGCT CTCCCTGTCCGGGCCTCGCCACTCAGTACGGGGGCGGGGCT Direct Gain 0 0.989707968195503 NA NA prediction 0.979415936391007 Functional Gain - ROM1 ENSG00000149489 UTR5 Human protein_coding chr11:62380316 chr11:62380316 . . 0 21 hm6Am_associated_SNPs_5019 1 Likely benign Retinitis Pigmentosa, Dominant RCV000309018.1
402 chr4 108911024 108911024 1 + G A rs28703310 108911024 + 108911004 108911044 41 CCCCCAGAGTCTGGCTTTCCGCGGCTGCCCGCCTCGCGCGT CCCCCAGAGTCTGGCTTTCCACGGCTGCCCGCCTCGCGCGT Direct Gain 0 0.989621540241409 NA NA prediction 0.979243080482818 Functional Gain - HADH ENSG00000138796 CDS Human protein_coding chr4:108911024 chr4:108911024 nonsynonymous SNV 0.000 0 21 hm6Am_associated_SNPs_5025 2 Likely benign Hyperinsulinism, Dominant/Recessive RCV000272026.1
402 chr4 108911024 108911024 1 + G A rs28703310 108911024 + 108911004 108911044 41 CCCCCAGAGTCTGGCTTTCCGCGGCTGCCCGCCTCGCGCGT CCCCCAGAGTCTGGCTTTCCACGGCTGCCCGCCTCGCGCGT Direct Gain 0 0.989621540241409 NA NA prediction 0.979243080482818 Functional Gain - HADH ENSG00000138796 CDS Human protein_coding chr4:108911024 chr4:108911024 nonsynonymous SNV 0.000 0 21 hm6Am_associated_SNPs_5025 2 Likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase RCV000308496.1
402 chr11 68671419 68671419 1 + C T rs4930624 68671419 - 68671399 68671439 41 CCACAGCTGCCGAGGCCATCGCCGCCGCCGGCCTGGGCCCC CCACAGCTGCCGAGGCCATCACCGCCGCCGGCCTGGGCCCC Direct Gain 0 0.989540120081628 NA NA prediction 0.979080240163255 Functional Gain - IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671419 chr11:68671419 . . 0 21 hm6Am_associated_SNPs_5039 2 Benign not specified RCV000251714.3
402 chr11 68671419 68671419 1 + C T rs4930624 68671419 - 68671399 68671439 41 CCACAGCTGCCGAGGCCATCGCCGCCGCCGGCCTGGGCCCC CCACAGCTGCCGAGGCCATCACCGCCGCCGGCCTGGGCCCC Direct Gain 0 0.989540120081628 NA NA prediction 0.979080240163255 Functional Gain - IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671419 chr11:68671419 . . 0 21 hm6Am_associated_SNPs_5039 2 Benign Spinal muscular atrophy RCV000349227.1
402 chr2 220283141 220283141 1 + G A rs184826121 220283141 + 220283121 220283161 41 CTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCG CTCCGGCCGGCCGCCTGCCCACCGCCTCCTCCGTGCGCCCG Direct Gain 0 0.989344605744395 NA NA prediction 0.978689211488789 Functional Gain - DES ENSG00000175084 UTR5 Human protein_coding chr2:220283141 chr2:220283141 . . 0 21 hm6Am_associated_SNPs_5060 5 Benign not specified RCV000183342.1
402 chr2 220283141 220283141 1 + G A rs184826121 220283141 + 220283121 220283161 41 CTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCG CTCCGGCCGGCCGCCTGCCCACCGCCTCCTCCGTGCGCCCG Direct Gain 0 0.989344605744395 NA NA prediction 0.978689211488789 Functional Gain - DES ENSG00000175084 UTR5 Human protein_coding chr2:220283141 chr2:220283141 . . 0 21 hm6Am_associated_SNPs_5060 5 Likely benign Myofibrillar Myopathy, Dominant RCV000275289.1
402 chr2 220283141 220283141 1 + G A rs184826121 220283141 + 220283121 220283161 41 CTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCG CTCCGGCCGGCCGCCTGCCCACCGCCTCCTCCGTGCGCCCG Direct Gain 0 0.989344605744395 NA NA prediction 0.978689211488789 Functional Gain - DES ENSG00000175084 UTR5 Human protein_coding chr2:220283141 chr2:220283141 . . 0 21 hm6Am_associated_SNPs_5060 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000333461.1
402 chr2 220283141 220283141 1 + G A rs184826121 220283141 + 220283121 220283161 41 CTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCG CTCCGGCCGGCCGCCTGCCCACCGCCTCCTCCGTGCGCCCG Direct Gain 0 0.989344605744395 NA NA prediction 0.978689211488789 Functional Gain - DES ENSG00000175084 UTR5 Human protein_coding chr2:220283141 chr2:220283141 . . 0 21 hm6Am_associated_SNPs_5060 5 Likely benign Myofibrillar myopathy 1 RCV000381089.1
402 chr2 220283141 220283141 1 + G A rs184826121 220283141 + 220283121 220283161 41 CTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCG CTCCGGCCGGCCGCCTGCCCACCGCCTCCTCCGTGCGCCCG Direct Gain 0 0.989344605744395 NA NA prediction 0.978689211488789 Functional Gain - DES ENSG00000175084 UTR5 Human protein_coding chr2:220283141 chr2:220283141 . . 0 21 hm6Am_associated_SNPs_5060 5 Likely benign Scapuloperoneal weakness RCV000386055.1
402 chr5 60241050 60241050 1 + G A BLCA 60241050 + 60241030 60241070 41 TTACCCCTACTGCGGGTCCCGCTGCTGGCAGCGCTGGAAAC TTACCCCTACTGCGGGTCCCACTGCTGGCAGCGCTGGAAAC Direct Gain 0 0.988903061227374 NA NA prediction 0.977806122454749 Functional Gain - NDUFAF2 ENSG00000164182 UTR5 Human protein_coding chr5:60241050 chr5:60241050 . . 0 21 hm6Am_associated_SNPs_5111 1 Likely benign not specified RCV000423590.1
402 chr18 59992547 59992547 1 + G A rs7238731 59992547 + 59992527 59992567 41 GCGCCCGCTGGGCCACAGAGGCCGCTGAGGCCGCGGCGCCC GCGCCCGCTGGGCCACAGAGACCGCTGAGGCCGCGGCGCCC Direct Gain 0 0.988800329704399 NA NA prediction 0.977600659408797 Functional Gain - TNFRSF11A ENSG00000141655 UTR5 Human protein_coding chr18:59992547 chr18:59992547 . . 0 21 hm6Am_associated_SNPs_5127 3 Benign not specified RCV000249802.1
402 chr18 59992547 59992547 1 + G A rs7238731 59992547 + 59992527 59992567 41 GCGCCCGCTGGGCCACAGAGGCCGCTGAGGCCGCGGCGCCC GCGCCCGCTGGGCCACAGAGACCGCTGAGGCCGCGGCGCCC Direct Gain 0 0.988800329704399 NA NA prediction 0.977600659408797 Functional Gain - TNFRSF11A ENSG00000141655 UTR5 Human protein_coding chr18:59992547 chr18:59992547 . . 0 21 hm6Am_associated_SNPs_5127 3 Likely benign Osteopetrosis RCV000312036.1
402 chr18 59992547 59992547 1 + G A rs7238731 59992547 + 59992527 59992567 41 GCGCCCGCTGGGCCACAGAGGCCGCTGAGGCCGCGGCGCCC GCGCCCGCTGGGCCACAGAGACCGCTGAGGCCGCGGCGCCC Direct Gain 0 0.988800329704399 NA NA prediction 0.977600659408797 Functional Gain - TNFRSF11A ENSG00000141655 UTR5 Human protein_coding chr18:59992547 chr18:59992547 . . 0 21 hm6Am_associated_SNPs_5127 3 Likely benign Paget disease of bone RCV000370833.1
402 chr3 8775530 8775530 1 + G A rs72546666 8775530 + 8775510 8775550 41 CCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCC CCCAGCCGGCCACACAGCTCAGATCTCCTCCTGTGGATCCC Direct Gain 0 0.988622324366831 NA NA prediction 0.977244648733662 Functional Gain - CAV3 ENSG00000182533 UTR5 Human protein_coding chr3:8775530 chr3:8775530 . . 0 21 hm6Am_associated_SNPs_5147 1 Likely benign not specified RCV000422757.1
402 chr7 138482795 138482795 1 + G A rs368646400 138482795 + 138482775 138482815 41 TCACCTGCAGCAGGCACTCGGCACAACTCCGCAGGACCGGC TCACCTGCAGCAGGCACTCGACACAACTCCGCAGGACCGGC Direct Gain 0 0.988618609687346 NA NA prediction 0.977237219374691 Functional Gain - ATP6V0A4;TMEM213 ENSG00000214128 CDS Human protein_coding chr7:138482795 chr7:138482795 synonymous SNV . 0 21 hm6Am_associated_SNPs_5149 1 Likely benign Distal Renal Tubular Acidosis, Recessive RCV000277686.1
402 chr3 129247526 129247526 1 + G A rs2269736 129247526 + 129247506 129247546 41 GTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGC GTGGCTGAGCTCAGGCCTTCACAGCATTCTTGGGTGGGAGC Direct Gain 0 0.988601738727329 NA NA prediction 0.977203477454658 Functional Gain - RHO ENSG00000163914 UTR5 Human protein_coding chr3:129247526 chr3:129247526 . . 0 21 hm6Am_associated_SNPs_5151 2 Benign Retinitis Pigmentosa, Dominant/Recessive RCV000272221.1
402 chr3 129247526 129247526 1 + G A rs2269736 129247526 + 129247506 129247546 41 GTGGCTGAGCTCAGGCCTTCGCAGCATTCTTGGGTGGGAGC GTGGCTGAGCTCAGGCCTTCACAGCATTCTTGGGTGGGAGC Direct Gain 0 0.988601738727329 NA NA prediction 0.977203477454658 Functional Gain - RHO ENSG00000163914 UTR5 Human protein_coding chr3:129247526 chr3:129247526 . . 0 21 hm6Am_associated_SNPs_5151 2 Benign Congenital Stationary Night Blindness, Dominant RCV000320268.1
402 chr17 2497185 2497185 1 + C A rs187878265 2497185 + 2497165 2497205 41 CGGGCCCAGCGCGCCATCCTCCCCCCTCCTTCCCTCCCTCC CGGGCCCAGCGCGCCATCCTACCCCCTCCTTCCCTCCCTCC Direct Gain 0 0.988058338616373 NA NA prediction 0.976116677232746 Functional Gain - PAFAH1B1 ENSG00000007168 UTR5 Human protein_coding chr17:2497185 chr17:2497185 . . 0 21 hm6Am_associated_SNPs_5212 1 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000322320.1
402 chr16 88505155 88505155 1 + C T rs372634401 88505155 - 88505135 88505175 41 GCTGGGGTGGTGGCTGTCTCGCTCTGGAGCTGCCCGCTGGC GCTGGGGTGGTGGCTGTCTCACTCTGGAGCTGCCCGCTGGC Direct Gain 0 0.988058287421669 NA NA prediction 0.976116574843339 Functional Gain - ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88505155 chr16:88505155 synonymous SNV . 0 21 hm6Am_associated_SNPs_5213 1 Uncertain significance not specified RCV000372320.1
402 chr11 107992325 107992325 1 + T A rs3741055 107992325 + 107992305 107992345 41 GTGGAGCCGATACTCAGCCCTCTGCGACCATGGCTGTGCTG GTGGAGCCGATACTCAGCCCACTGCGACCATGGCTGTGCTG Direct Gain 0 0.987824352918526 NA NA prediction 0.975648705837052 Functional Gain - ACAT1 ENSG00000255467 ncRNA_exonic Human antisense chr11:107992325 chr11:107992325 . . 0 21 hm6Am_associated_SNPs_5240 2 Benign not specified RCV000077928.5
402 chr11 107992325 107992325 1 + T A rs3741055 107992325 + 107992305 107992345 41 GTGGAGCCGATACTCAGCCCTCTGCGACCATGGCTGTGCTG GTGGAGCCGATACTCAGCCCACTGCGACCATGGCTGTGCTG Direct Gain 0 0.987824352918526 NA NA prediction 0.975648705837052 Functional Gain - ACAT1 ENSG00000255467 ncRNA_exonic Human antisense chr11:107992325 chr11:107992325 . . 0 21 hm6Am_associated_SNPs_5240 2 Benign Deficiency of acetyl-CoA acetyltransferase RCV000336276.1
402 chr14 105156001 105156001 1 + G A rs141884370 105156001 + 105155981 105156021 41 GGAGCGCGGCAGTGGGCGCCGGCTGCCCGCAGCCCCTGACC GGAGCGCGGCAGTGGGCGCCAGCTGCCCGCAGCCCCTGACC Direct Gain 0 0.987712136971872 NA NA prediction 0.975424273943744 Functional Gain - INF2 ENSG00000203485 UTR5 Human protein_coding chr14:105156001 chr14:105156001 . . 0 21 hm6Am_associated_SNPs_5256 1 Benign Focal segmental glomerulosclerosis RCV000368991.1
402 chr9 130213821 130213821 1 + C T rs116498902 130213821 - 130213801 130213841 41 CGCACCGCGGTGCCCTGCTTGCCAGCCGTCAGCCTCAGGCG CGCACCGCGGTGCCCTGCTTACCAGCCGTCAGCCTCAGGCG Direct Gain 0 0.987666474649396 NA NA prediction 0.975332949298792 Functional Gain - LRSAM1 ENSG00000148356 UTR5 Human protein_coding chr9:130213821 chr9:130213821 . . 0 21 hm6Am_associated_SNPs_5262 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000285429.1
402 chr1 116184621 116184621 1 + C A rs191609592 116184621 + 116184601 116184641 41 CGGCGGCGGCGGGGCTCTGCCTCTCCAGGAGCCCAGCGCAG CGGCGGCGGCGGGGCTCTGCATCTCCAGGAGCCCAGCGCAG Direct Gain 0 0.987605865823169 NA NA prediction 0.975211731646339 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm6Am_associated_SNPs_5269 2 Likely benign Neural tube defect RCV000352634.1
402 chr1 116184621 116184621 1 + C A rs191609592 116184621 + 116184601 116184641 41 CGGCGGCGGCGGGGCTCTGCCTCTCCAGGAGCCCAGCGCAG CGGCGGCGGCGGGGCTCTGCATCTCCAGGAGCCCAGCGCAG Direct Gain 0 0.987605865823169 NA NA prediction 0.975211731646339 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm6Am_associated_SNPs_5269 2 Likely benign Caudal dysgenesis syndrome RCV000405114.1
402 chr1 2234791 2234791 1 + C T rs75280988 2234791 - 2234771 2234811 41 GGGAGAGCTCTTTCTCACTCGCTGACACTGCGGGGGACCAG GGGAGAGCTCTTTCTCACTCACTGACACTGCGGGGGACCAG Direct Gain 0 0.98747109304172 NA NA prediction 0.97494218608344 Functional Gain - SKI ENSG00000157933 CDS Human protein_coding chr1:2234791 chr1:2234791 nonsynonymous SNV 0.028 1 21 hm6Am_associated_SNPs_5284 3 Benign not specified RCV000198871.3
402 chr1 2234791 2234791 1 + C T rs75280988 2234791 - 2234771 2234811 41 GGGAGAGCTCTTTCTCACTCGCTGACACTGCGGGGGACCAG GGGAGAGCTCTTTCTCACTCACTGACACTGCGGGGGACCAG Direct Gain 0 0.98747109304172 NA NA prediction 0.97494218608344 Functional Gain - SKI ENSG00000157933 CDS Human protein_coding chr1:2234791 chr1:2234791 nonsynonymous SNV 0.028 1 21 hm6Am_associated_SNPs_5284 3 Benign Shprintzen-Goldberg syndrome RCV000204037.3
402 chr1 2234791 2234791 1 + C T rs75280988 2234791 - 2234771 2234811 41 GGGAGAGCTCTTTCTCACTCGCTGACACTGCGGGGGACCAG GGGAGAGCTCTTTCTCACTCACTGACACTGCGGGGGACCAG Direct Gain 0 0.98747109304172 NA NA prediction 0.97494218608344 Functional Gain - SKI ENSG00000157933 CDS Human protein_coding chr1:2234791 chr1:2234791 nonsynonymous SNV 0.028 1 21 hm6Am_associated_SNPs_5284 3 Likely benign not provided RCV000436746.1
402 chr17 13972811 13972811 1 + G A rs6502330 13972811 + 13972791 13972831 41 GAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCAC GAGCCCGCCCGCCGGAAGTGACGGCCCGGAACTACTCCCAC Direct Gain 0 0.987431618929295 NA NA prediction 0.97486323785859 Functional Gain - COX10 ENSG00000236088 ncRNA_exonic Human processed_transcript chr17:13972811 chr17:13972811 . . 0 21 hm6Am_associated_SNPs_5291 2 Benign Leigh syndrome RCV000336039.1
402 chr17 13972811 13972811 1 + G A rs6502330 13972811 + 13972791 13972831 41 GAGCCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCAC GAGCCCGCCCGCCGGAAGTGACGGCCCGGAACTACTCCCAC Direct Gain 0 0.987431618929295 NA NA prediction 0.97486323785859 Functional Gain - COX10 ENSG00000236088 ncRNA_exonic Human processed_transcript chr17:13972811 chr17:13972811 . . 0 21 hm6Am_associated_SNPs_5291 2 Benign Cytochrome-c oxidase deficiency RCV000390210.1
402 chr1 235530758 235530758 1 + T A rs114193373 235530758 + 235530738 235530778 41 TCCGGCCAGAGCCTCAAGCTTCGCTGCTGGGCAGTTGGCTG TCCGGCCAGAGCCTCAAGCTACGCTGCTGGGCAGTTGGCTG Direct Gain 0 0.987373034800762 NA NA prediction 0.974746069601525 Functional Gain - TBCE ENSG00000116957 UTR5 Human protein_coding chr1:235530758 chr1:235530758 . . 0 21 hm6Am_associated_SNPs_5301 1 Likely benign Hypoparathyroidism retardation dysmorphism syndrome RCV000371904.1
402 chr11 61129728 61129728 1 + C A rs548180077 61129728 + 61129708 61129748 41 GGCCCCGAACAGCGAAAGCTCCAACATGGCGGCCAGACTGG GGCCCCGAACAGCGAAAGCTACAACATGGCGGCCAGACTGG Direct Gain 0 0.98718528985976 NA NA prediction 0.97437057971952 Functional Gain - CYB561A3;TMEM138 ENSG00000149483;ENSG00000162144 UTR5 Human other chr11:61129728 chr11:61129728 . . 0 21 hm6Am_associated_SNPs_5327 1 Uncertain significance Joubert syndrome RCV000334824.1
402 chr16 2550475 2550475 1 + C T rs189089167 2550475 - 2550455 2550495 41 TCACCGACGATGAGGCAGTCGCTGCCCCCCGCCATGAACAT TCACCGACGATGAGGCAGTCACTGCCCCCCGCCATGAACAT Direct Gain 0 0.986588926634058 NA NA prediction 0.973177853268115 Functional Gain - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550475 chr16:2550475 synonymous SNV . 0 21 hm6Am_associated_SNPs_5390 5 other not specified RCV000118578.5
402 chr16 2550475 2550475 1 + C T rs189089167 2550475 - 2550455 2550495 41 TCACCGACGATGAGGCAGTCGCTGCCCCCCGCCATGAACAT TCACCGACGATGAGGCAGTCACTGCCCCCCGCCATGAACAT Direct Gain 0 0.986588926634058 NA NA prediction 0.973177853268115 Functional Gain - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550475 chr16:2550475 synonymous SNV . 0 21 hm6Am_associated_SNPs_5390 5 Benign Caused by mutation in the TBC1 domain family, member 24 RCV000227590.2
402 chr16 2550475 2550475 1 + C T rs189089167 2550475 - 2550455 2550495 41 TCACCGACGATGAGGCAGTCGCTGCCCCCCGCCATGAACAT TCACCGACGATGAGGCAGTCACTGCCCCCCGCCATGAACAT Direct Gain 0 0.986588926634058 NA NA prediction 0.973177853268115 Functional Gain - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550475 chr16:2550475 synonymous SNV . 0 21 hm6Am_associated_SNPs_5390 5 Benign Deafness, autosomal dominant 65 RCV000227590.2
402 chr16 2550475 2550475 1 + C T rs189089167 2550475 - 2550455 2550495 41 TCACCGACGATGAGGCAGTCGCTGCCCCCCGCCATGAACAT TCACCGACGATGAGGCAGTCACTGCCCCCCGCCATGAACAT Direct Gain 0 0.986588926634058 NA NA prediction 0.973177853268115 Functional Gain - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550475 chr16:2550475 synonymous SNV . 0 21 hm6Am_associated_SNPs_5390 5 Benign Epileptic encephalopathy, early infantile, 1 RCV000227590.2
402 chr16 2550475 2550475 1 + C T rs189089167 2550475 - 2550455 2550495 41 TCACCGACGATGAGGCAGTCGCTGCCCCCCGCCATGAACAT TCACCGACGATGAGGCAGTCACTGCCCCCCGCCATGAACAT Direct Gain 0 0.986588926634058 NA NA prediction 0.973177853268115 Functional Gain - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550475 chr16:2550475 synonymous SNV . 0 21 hm6Am_associated_SNPs_5390 5 Likely benign Myoclonic epilepsy, familial infantile RCV000384074.1
402 chr5 131705516 131705516 1 + G A rs57262206 131705516 + 131705496 131705536 41 GCGGCAGGACCAAGGCGGCGGTGTCAGCTCGCGAGCCTACC GCGGCAGGACCAAGGCGGCGATGTCAGCTCGCGAGCCTACC Direct Gain 0 0.986420834596865 NA NA prediction 0.972841669193731 Functional Gain - MIR3936HG ENSG00000233006 ncRNA_intronic Human processed_transcript chr5:131705516 chr5:131705516 . . 0 21 hm6Am_associated_SNPs_5419 1 not provided Renal carnitine transport defect RCV000022286.2
402 chr3 87276522 87276522 1 + C A rs77328592 87276522 + 87276502 87276542 41 AGCTGCGGATACAAGCCTTCCGCGGGTCCTGCCTGGCGACC AGCTGCGGATACAAGCCTTCAGCGGGTCCTGCCTGGCGACC Direct Gain 0 0.986365648979561 NA NA prediction 0.972731297959123 Functional Gain - CHMP2B ENSG00000083937 UTR5 Human protein_coding chr3:87276522 chr3:87276522 . . 0 21 hm6Am_associated_SNPs_5428 1 Likely benign Frontotemporal dementia RCV000378169.1
402 chr15 66777482 66777482 1 + C T BLCA 66777482 - 66777462 66777502 41 GCCTGGGTGGGGTCTCAGCCGCATCTCCTTCCACCTGGCAC GCCTGGGTGGGGTCTCAGCCACATCTCCTTCCACCTGGCAC Direct Gain 0 0.986160805229055 NA NA prediction 0.972321610458111 Functional Gain - MAP2K1 ENSG00000169032 CDS Human protein_coding chr15:66777482 chr15:66777482 nonsynonymous SNV 0.539 0 21 hm6Am_associated_SNPs_5463 1 Likely benign not specified RCV000037602.3
402 chr3 87276414 87276414 1 + C A rs538600777 87276414 + 87276394 87276434 41 TCCGTAGTGCGCAGGCGCCACACAACGCGCAGGCGCCGCCT TCCGTAGTGCGCAGGCGCCAAACAACGCGCAGGCGCCGCCT Direct Gain 0 0.986114328857346 NA NA prediction 0.972228657714691 Functional Gain - CHMP2B ENSG00000083937;ENSG00000264119 upstream Human other chr3:87276414 chr3:87276414 . . 0 21 hm6Am_associated_SNPs_5469 1 Uncertain significance Frontotemporal dementia RCV000263633.1
402 chr2 48010255 48010255 1 + G A rs556432240 48010255 + 48010235 48010275 41 TGATTGGCCACTGGGGCCCGGGTTCCTCCGGCGGAGCGCGC TGATTGGCCACTGGGGCCCGAGTTCCTCCGGCGGAGCGCGC Direct Gain 0 0.985913263460662 NA NA prediction 0.971826526921325 Functional Gain - MSH6 ENSG00000116062 UTR5 Human protein_coding chr2:48010255 chr2:48010255 . . 0 21 hm6Am_associated_SNPs_5497 1 Uncertain significance Lynch syndrome RCV000314274.1
402 chr16 2546300 2546300 1 + C T COAD 2546300 - 2546280 2546320 41 GCGCTGGTACACCTTTCCCCGCAGGGCGTGGCTTTGGGCCC GCGCTGGTACACCTTTCCCCACAGGGCGTGGCTTTGGGCCC Direct Gain 0 0.985617174398201 NA NA prediction 0.971234348796403 Functional Gain - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546300 chr16:2546300 nonsynonymous SNV 0.365 4 21 hm6Am_associated_SNPs_5547 1 Uncertain significance Myoclonic epilepsy, familial infantile RCV000285199.1
402 chr1 3322139 3322139 1 + C T rs61745281 3322139 - 3322119 3322159 41 GACGTGGCGAAGGTCTTCCCGCAGTCGGGGCAGGCGTGGGC GACGTGGCGAAGGTCTTCCCACAGTCGGGGCAGGCGTGGGC Direct Gain 0 0.9854034193819 NA NA prediction 0.9708068387638 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3322139 chr1:3322139 synonymous SNV . 0 21 hm6Am_associated_SNPs_5582 2 Benign not specified RCV000214207.2
402 chr1 3322139 3322139 1 + C T rs61745281 3322139 - 3322119 3322159 41 GACGTGGCGAAGGTCTTCCCGCAGTCGGGGCAGGCGTGGGC GACGTGGCGAAGGTCTTCCCACAGTCGGGGCAGGCGTGGGC Direct Gain 0 0.9854034193819 NA NA prediction 0.9708068387638 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3322139 chr1:3322139 synonymous SNV . 0 21 hm6Am_associated_SNPs_5582 2 Benign Left ventricular noncompaction 8 RCV000475757.1
402 chr5 70883215 70883215 1 + G A rs186132078 70883215 + 70883195 70883235 41 GGGGAAAGCACCGGCTCCAGGCCAGCGTGGGCCGCTCTCTC GGGGAAAGCACCGGCTCCAGACCAGCGTGGGCCGCTCTCTC Direct Gain 0 0.985268050732147 NA NA prediction 0.970536101464294 Functional Gain - MCCC2 ENSG00000131844 UTR5 Human protein_coding chr5:70883215 chr5:70883215 . . 0 21 hm6Am_associated_SNPs_5608 2 Uncertain significance 3-MCC Deficiency RCV000357588.1
402 chr5 70883215 70883215 1 + G A rs186132078 70883215 + 70883195 70883235 41 GGGGAAAGCACCGGCTCCAGGCCAGCGTGGGCCGCTCTCTC GGGGAAAGCACCGGCTCCAGACCAGCGTGGGCCGCTCTCTC Direct Gain 0 0.985268050732147 NA NA prediction 0.970536101464294 Functional Gain - MCCC2 ENSG00000131844 UTR5 Human protein_coding chr5:70883215 chr5:70883215 . . 0 21 hm6Am_associated_SNPs_5608 2 Likely benign not specified RCV000420533.1
402 chr12 98909391 98909391 1 + C A rs575336054 98909391 + 98909371 98909411 41 GCAGGCTGCTCGCCTCCTGCCTGTAGTGTGTGGGCTGGGGT GCAGGCTGCTCGCCTCCTGCATGTAGTGTGTGGGCTGGGGT Direct Gain 0 0.985220351830252 NA NA prediction 0.970440703660503 Functional Gain - TMPO-AS1 ENSG00000257167 ncRNA_exonic Human antisense chr12:98909391 chr12:98909391 . . 0 21 hm6Am_associated_SNPs_5614 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000363255.1
402 chr1 11994779 11994779 1 + G A rs552712043 11994779 + 11994759 11994799 41 GGGACCTGCGGCCCCGTCGCGAAGTTTCCAGCCCTGCGAGC GGGACCTGCGGCCCCGTCGCAAAGTTTCCAGCCCTGCGAGC Direct Gain 0 0.984272036945669 NA NA prediction 0.968544073891338 Functional Gain - PLOD1 ENSG00000083444 UTR5 Human protein_coding chr1:11994779 chr1:11994779 . . 0 21 hm6Am_associated_SNPs_5761 1 Uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000381557.1
402 chr12 2566839 2566839 1 + C T rs200800133 2566839 - 2566819 2566859 41 CACCAGCCGCAGGGGGCGCAGCACGCGGAAGGCCCTCAGCG CACCAGCCGCAGGGGGCGCAACACGCGGAAGGCCCTCAGCG Direct Gain 0 0.984231607796585 NA NA prediction 0.968463215593169 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2566839 chr12:2566839 synonymous SNV . 0 21 hm6Am_associated_SNPs_5770 3 Likely benign Cardiovascular phenotype RCV000248176.1
402 chr12 2566839 2566839 1 + C T rs200800133 2566839 - 2566819 2566859 41 CACCAGCCGCAGGGGGCGCAGCACGCGGAAGGCCCTCAGCG CACCAGCCGCAGGGGGCGCAACACGCGGAAGGCCCTCAGCG Direct Gain 0 0.984231607796585 NA NA prediction 0.968463215593169 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2566839 chr12:2566839 synonymous SNV . 0 21 hm6Am_associated_SNPs_5770 3 Uncertain significance not specified RCV000379802.1
402 chr12 2566839 2566839 1 + C T rs200800133 2566839 - 2566819 2566859 41 CACCAGCCGCAGGGGGCGCAGCACGCGGAAGGCCCTCAGCG CACCAGCCGCAGGGGGCGCAACACGCGGAAGGCCCTCAGCG Direct Gain 0 0.984231607796585 NA NA prediction 0.968463215593169 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2566839 chr12:2566839 synonymous SNV . 0 21 hm6Am_associated_SNPs_5770 3 Benign Long QT syndrome RCV000474929.1
402 chr5 179247912 179247912 1 + G A rs74523483 179247912 + 179247892 179247932 41 GGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCGCT GGCTGCGACCGGGACGGCCCATTTTCCGCCAGCTCGCCGCT Direct Gain 0 0.984038406826653 NA NA prediction 0.968076813653306 Functional Gain - SQSTM1 ENSG00000161011 UTR5 Human protein_coding chr5:179247912 chr5:179247912 . . 0 21 hm6Am_associated_SNPs_5805 1 Likely benign Paget disease of bone RCV000265717.1
402 chr1 213031708 213031708 1 + G A rs41296692 213031708 + 213031688 213031728 41 GCCGAGGGGTTGGAGGTGGGGCCCCAGGAGGACCTCGGGCT GCCGAGGGGTTGGAGGTGGGACCCCAGGAGGACCTCGGGCT Direct Gain 0 0.983671219392052 NA NA prediction 0.967342438784105 Functional Gain - FLVCR1 ENSG00000162769 UTR5 Human protein_coding chr1:213031708 chr1:213031708 . . 0 21 hm6Am_associated_SNPs_5884 1 Uncertain significance Posterior column ataxia with retinitis pigmentosa RCV000382638.1
402 chr19 36139172 36139172 1 + G A rs10420252 36139172 + 36139152 36139192 41 CCTCCTCCTGGGAGGGAGCTGAAGCCGCTCGCAAGACTCCC CCTCCTCCTGGGAGGGAGCTAAAGCCGCTCGCAAGACTCCC Direct Gain 0 0.983435645432208 NA NA prediction 0.966871290864417 Functional Gain - COX6B1 ENSG00000126267 UTR5 Human protein_coding chr19:36139172 chr19:36139172 . . 0 21 hm6Am_associated_SNPs_5929 1 Likely benign Cytochrome-c oxidase deficiency RCV000269405.1
402 chr8 11607658 11607658 1 + C T rs55980825 11607658 - 11607638 11607678 41 AGCGTGGTGGTGGTGGTCTGGCAGTTGGCACAGGAGAGGCC AGCGTGGTGGTGGTGGTCTGACAGTTGGCACAGGAGAGGCC Direct Gain 0 0.98313157484769 NA NA prediction 0.96626314969538 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11607658 chr8:11607658 synonymous SNV . 0 21 hm6Am_associated_SNPs_5985 3 other not specified RCV000037324.3
402 chr8 11607658 11607658 1 + C T rs55980825 11607658 - 11607638 11607678 41 AGCGTGGTGGTGGTGGTCTGGCAGTTGGCACAGGAGAGGCC AGCGTGGTGGTGGTGGTCTGACAGTTGGCACAGGAGAGGCC Direct Gain 0 0.98313157484769 NA NA prediction 0.96626314969538 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11607658 chr8:11607658 synonymous SNV . 0 21 hm6Am_associated_SNPs_5985 3 Benign Atrioventricular septal defect 4 RCV000228063.2
402 chr8 11607658 11607658 1 + C T rs55980825 11607658 - 11607638 11607678 41 AGCGTGGTGGTGGTGGTCTGGCAGTTGGCACAGGAGAGGCC AGCGTGGTGGTGGTGGTCTGACAGTTGGCACAGGAGAGGCC Direct Gain 0 0.98313157484769 NA NA prediction 0.96626314969538 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11607658 chr8:11607658 synonymous SNV . 0 21 hm6Am_associated_SNPs_5985 3 Likely benign Cardiovascular phenotype RCV000249584.1
402 chr9 130965733 130965733 1 + C A rs368835504 130965733 + 130965713 130965753 41 GGCAGCCGGATCGCAGCCTGCGGGGCCCGCCGCAGCCATGG GGCAGCCGGATCGCAGCCTGAGGGGCCCGCCGCAGCCATGG Direct Gain 0 0.983053475767294 NA NA prediction 0.966106951534589 Functional Gain - DNM1 ENSG00000106976 UTR5 Human protein_coding chr9:130965733 chr9:130965733 . . 0 21 hm6Am_associated_SNPs_5997 1 Benign not specified RCV000423095.1
402 chr20 62612524 62612524 1 + G A rs180973296 62612524 + 62612504 62612544 41 GGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTCTTT GGAGTGCATCGGACGTCGAAACCTAGAGTCTCTGCGTCTTT Direct Gain 0 0.982550380445412 NA NA prediction 0.965100760890824 Functional Gain - PRPF6 ENSG00000101161 UTR5 Human protein_coding chr20:62612524 chr20:62612524 . . 0 21 hm6Am_associated_SNPs_6101 1 Likely benign Retinitis Pigmentosa, Dominant RCV000262734.1
402 chr15 89392802 89392802 1 + C T rs35652696 89392802 - 89392782 89392822 41 TCGGCCAGCCAGCCGGCATAGCACTTGTCCAGGCCGCGGCT TCGGCCAGCCAGCCGGCATAACACTTGTCCAGGCCGCGGCT Direct Gain 0 0.98229590180693 NA NA prediction 0.96459180361386 Functional Gain - ACAN ENSG00000157766 CDS Human protein_coding chr15:89392802 chr15:89392802 synonymous SNV . 0 21 hm6Am_associated_SNPs_6154 1 Benign not specified RCV000381232.1
402 chr4 108852763 108852763 1 + G A rs112053024 108852763 + 108852743 108852783 41 TGCGTGCGCGTCTCCTCCAGGCAGCAAGGGGAACCCGAGGC TGCGTGCGCGTCTCCTCCAGACAGCAAGGGGAACCCGAGGC Direct Gain 0 0.981970082996111 NA NA prediction 0.963940165992221 Functional Gain - LOC101929595 ENSG00000245293 ncRNA_intronic Human antisense chr4:108852763 chr4:108852763 . . 0 21 hm6Am_associated_SNPs_6229 1 Benign not specified RCV000424711.1
402 chr19 45682920 45682920 1 + C T rs571269735 45682920 - 45682900 45682940 41 CTCACGGCGGCCGCCACGTCGTGGTCCAGCCGCGCCTGGCT CTCACGGCGGCCGCCACGTCATGGTCCAGCCGCGCCTGGCT Direct Gain 0 0.98176801348851 NA NA prediction 0.96353602697702 Functional Gain - BLOC1S3 ENSG00000189114 CDS Human protein_coding chr19:45682920 chr19:45682920 synonymous SNV . 0 21 hm6Am_associated_SNPs_6276 2 other not specified RCV000150192.3
402 chr19 45682920 45682920 1 + C T rs571269735 45682920 - 45682900 45682940 41 CTCACGGCGGCCGCCACGTCGTGGTCCAGCCGCGCCTGGCT CTCACGGCGGCCGCCACGTCATGGTCCAGCCGCGCCTGGCT Direct Gain 0 0.98176801348851 NA NA prediction 0.96353602697702 Functional Gain - BLOC1S3 ENSG00000189114 CDS Human protein_coding chr19:45682920 chr19:45682920 synonymous SNV . 0 21 hm6Am_associated_SNPs_6276 2 Uncertain significance Hermansky-Pudlak syndrome RCV000320201.1
402 chr17 48243394 48243394 1 + G A rs149296410 48243394 + 48243374 48243414 41 CTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACAC CTCACCGGGCGGGCCAGGCCAGGCAGCCATGGCTGAGACAC Direct Gain 0 0.981588437502262 NA NA prediction 0.963176875004523 Functional Gain - SGCA ENSG00000108823 UTR5 Human protein_coding chr17:48243394 chr17:48243394 . . 0 21 hm6Am_associated_SNPs_6322 2 Likely benign Limb-girdle muscular dystrophy, type 2D RCV000293268.1
402 chr17 48243394 48243394 1 + G A rs149296410 48243394 + 48243374 48243414 41 CTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACAC CTCACCGGGCGGGCCAGGCCAGGCAGCCATGGCTGAGACAC Direct Gain 0 0.981588437502262 NA NA prediction 0.963176875004523 Functional Gain - SGCA ENSG00000108823 UTR5 Human protein_coding chr17:48243394 chr17:48243394 . . 0 21 hm6Am_associated_SNPs_6322 2 Benign not specified RCV000359009.2
402 chrX 70443125 70443125 1 + G A rs190676487 70443125 + 70443105 70443145 41 GCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGG GCCCAGGGACCACTCCCCCTACACAGACATGAGACCATAGG Direct Gain 0 0.981288683113918 NA NA prediction 0.962577366227836 Functional Gain - BCYRN1 ENSG00000169562 UTR5 Human protein_coding chrX:70443125 chrX:70443125 . . 0 21 hm6Am_associated_SNPs_6381 1 Benign not specified RCV000428344.1
402 chr8 48873650 48873650 1 + C T rs577633841 48873650 - 48873630 48873670 41 CGGGCCGGGCCCGCCTCCCGGCTTCCCTGCCCTGCTCCGCA CGGGCCGGGCCCGCCTCCCGACTTCCCTGCCCTGCTCCGCA Direct Gain 0 0.981039301197173 NA NA prediction 0.962078602394346 Functional Gain - MCM4 ENSG00000104738 UTR5 Human protein_coding chr8:48873650 chr8:48873650 . . 0 21 hm6Am_associated_SNPs_6434 1 Likely benign Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000402170.1
402 chr6 157528243 157528243 1 + C T COAD 157528243 - 157528223 157528263 41 CTCATAGGTCTGCGGTGCTCGCTTTCTCTCTGGATGCTCGT CTCATAGGTCTGCGGTGCTCACTTTCTCTCTGGATGCTCGT Direct Gain 0 0.981023808912419 NA NA prediction 0.962047617824837 Functional Gain - ARID1B ENSG00000049618 CDS Human protein_coding chr6:157528243 chr6:157528243 stopgain 0.996 1 21 hm6Am_associated_SNPs_6439 1 Pathogenic Mental retardation, autosomal dominant 12 RCV000194737.1
402 chr14 102430976 102430976 1 + G A rs2273436 102430976 + 102430956 102430996 41 TGTCTCTTGCTGGCTGTCTCGCTGAGTCGCGGCCGCCTTCT TGTCTCTTGCTGGCTGTCTCACTGAGTCGCGGCCGCCTTCT Direct Gain 0 0.980965432091499 NA NA prediction 0.961930864182998 Functional Gain - DYNC1H1 ENSG00000197102 UTR5 Human protein_coding chr14:102430976 chr14:102430976 . . 0 21 hm6Am_associated_SNPs_6454 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000307087.1
402 chr14 102430976 102430976 1 + G A rs2273436 102430976 + 102430956 102430996 41 TGTCTCTTGCTGGCTGTCTCGCTGAGTCGCGGCCGCCTTCT TGTCTCTTGCTGGCTGTCTCACTGAGTCGCGGCCGCCTTCT Direct Gain 0 0.980965432091499 NA NA prediction 0.961930864182998 Functional Gain - DYNC1H1 ENSG00000197102 UTR5 Human protein_coding chr14:102430976 chr14:102430976 . . 0 21 hm6Am_associated_SNPs_6454 3 Likely benign Intellectual Disability, Dominant RCV000345548.1
402 chr14 102430976 102430976 1 + G A rs2273436 102430976 + 102430956 102430996 41 TGTCTCTTGCTGGCTGTCTCGCTGAGTCGCGGCCGCCTTCT TGTCTCTTGCTGGCTGTCTCACTGAGTCGCGGCCGCCTTCT Direct Gain 0 0.980965432091499 NA NA prediction 0.961930864182998 Functional Gain - DYNC1H1 ENSG00000197102 UTR5 Human protein_coding chr14:102430976 chr14:102430976 . . 0 21 hm6Am_associated_SNPs_6454 3 Likely benign Spinocerebellar Ataxia, Dominant RCV000403559.1
402 chr10 85954453 85954453 1 + G A rs531194884 85954453 + 85954433 85954473 41 GCCCTCCCCGCGGGCCCAGGGCATGCTCCGTGCCCCTGCGC GCCCTCCCCGCGGGCCCAGGACATGCTCCGTGCCCCTGCGC Direct Gain 0 0.980734494768694 NA NA prediction 0.961468989537388 Functional Gain - CDHR1 ENSG00000148600 UTR5 Human protein_coding chr10:85954453 chr10:85954453 . . 0 21 hm6Am_associated_SNPs_6505 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000395514.1
402 chr17 18061142 18061142 1 + C T rs200926400 18061142 - 18061122 18061162 41 GCCACGGCGGCTGCTCGGCCGCGGCCTGGCTCCGTTGGCAG GCCACGGCGGCTGCTCGGCCACGGCCTGGCTCCGTTGGCAG Direct Gain 0 0.980270769158914 NA NA prediction 0.960541538317829 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18061142 chr17:18061142 synonymous SNV . 0 21 hm6Am_associated_SNPs_6616 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000354137.1
402 chr2 45169423 45169423 1 + C T STAD 45169423 - 45169403 45169443 41 CCGCCGCCGCCGCCTGCTCCGCCAGCACCGCCGCCTCCCGC CCGCCGCCGCCGCCTGCTCCACCAGCACCGCCGCCTCCCGC Direct Gain 0 0.98026286824597 NA NA prediction 0.96052573649194 Functional Gain - SIX3 ENSG00000138083 CDS Human protein_coding chr2:45169423 chr2:45169423 synonymous SNV . 0 21 hm6Am_associated_SNPs_6619 1 Uncertain significance not specified RCV000274505.1
402 chr1 33283282 33283282 1 + C T rs537314587 33283282 - 33283262 33283302 41 CCCGCTCTTCACCTCCGGAAGCCGGGCCAAAGCCTGGGCGA CCCGCTCTTCACCTCCGGAAACCGGGCCAAAGCCTGGGCGA Direct Gain 0 0.980177106726397 NA NA prediction 0.960354213452793 Functional Gain - S100PBP;YARS ENSG00000116497;ENSG00000134684 UTR5 Human other chr1:33283282 chr1:33283282 . . 0 21 hm6Am_associated_SNPs_6640 1 Likely benign Charcot-Marie-Tooth, Intermediate RCV000370475.1
402 chr3 10183503 10183503 1 + C A rs558788270 10183503 + 10183483 10183523 41 CCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCG CCCGCGGATCCCGCGGCGTCAGGCCCGGGTGGTCTGGATCG Direct Gain 0 0.980115778116083 NA NA prediction 0.960231556232165 Functional Gain - VHL ENSG00000134086 UTR5 Human protein_coding chr3:10183503 chr3:10183503 . . 0 21 hm6Am_associated_SNPs_6660 1 Likely benign not specified RCV000444723.1
402 chr22 30091999 30091999 1 + C T rs2530680 30091999 - 30091979 30092019 41 GCCGTGGGGGTGGTTCTGTGGCCCTCTGTTGCCTGGCATGG GCCGTGGGGGTGGTTCTGTGACCCTCTGTTGCCTGGCATGG Direct Gain 0 0.980104678847076 NA NA prediction 0.960209357694152 Functional Gain - NF2 ENSG00000186575 UTR3 Human protein_coding chr22:30091999 chr22:30091999 . . 0 21 hm6Am_associated_SNPs_6664 1 Benign Neurofibromatosis, type 2 RCV000348126.1
402 chr21 47545973 47545973 1 + C T STAD 47545973 - 47545953 47545993 41 GTCACTGTGACGTCGCGGTCGCACAGCGCCCGCAAGTTGAG GTCACTGTGACGTCGCGGTCACACAGCGCCCGCAAGTTGAG Direct Gain 0 0.980021475410673 NA NA prediction 0.960042950821346 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545973 chr21:47545973 synonymous SNV . 0 21 hm6Am_associated_SNPs_6687 1 Uncertain significance not specified RCV000316159.1
402 chr10 27793216 27793216 1 + C A rs115326586 27793216 + 27793196 27793236 41 GTGGCAGACGTGGAGCGGCGCGCATGCGCAGCAGCTCACTC GTGGCAGACGTGGAGCGGCGAGCATGCGCAGCAGCTCACTC Direct Gain 0 0.979938134920234 NA NA prediction 0.959876269840467 Functional Gain - RAB18 ENSG00000099246 UTR5 Human protein_coding chr10:27793216 chr10:27793216 . . 0 21 hm6Am_associated_SNPs_6702 1 Uncertain significance Warburg micro syndrome RCV000391458.1
402 chr17 43971937 43971937 1 + C A rs62056779 43971937 + 43971917 43971957 41 CTCGCAGTCACCGCCACCCACCAGCTCCGGCACCAACAGCA CTCGCAGTCACCGCCACCCAACAGCTCCGGCACCAACAGCA Direct Gain 0 0.979859165551689 NA NA prediction 0.959718331103378 Functional Gain - MAPT-AS1 ENSG00000264589 ncRNA_intronic Human antisense chr17:43971937 chr17:43971937 . . 0 21 hm6Am_associated_SNPs_6720 1 Benign MAPT-Related Spectrum Disorders RCV000345385.1
402 chr4 140374987 140374987 1 + G A rs535498698 140374987 + 140374967 140375007 41 TCCAGAGGGCGGGAACCTTGGACGTGGCGGGGCTGGGTCAG TCCAGAGGGCGGGAACCTTGAACGTGGCGGGGCTGGGTCAG Direct Gain 0 0.979405005767261 NA NA prediction 0.958810011534521 Functional Gain - RAB33B ENSG00000273247 ncRNA_exonic Human antisense chr4:140374987 chr4:140374987 . . 0 21 hm6Am_associated_SNPs_6845 1 Uncertain significance Smith-McCort dysplasia RCV000394880.1
402 chr9 133884676 133884676 1 + C T rs13286358 133884676 - 133884656 133884696 41 GGGCGCCCTGCGCCGTCATAGCACGCGCCCATGCCCGCGCC GGGCGCCCTGCGCCGTCATAACACGCGCCCATGCCCGCGCC Direct Gain 0 0.979258090833459 NA NA prediction 0.958516181666917 Functional Gain - LAMC3 ENSG00000050555 CDS Human protein_coding chr9:133884676 chr9:133884676 synonymous SNV . 0 21 hm6Am_associated_SNPs_6877 1 other not specified RCV000117479.4
402 chr5 131705587 131705587 1 + C T rs13180043 131705587 - 131705567 131705607 41 CGCGTGCGCGCGGGGCACCCGCCGCCGACCAGGCAAGCCAG CGCGTGCGCGCGGGGCACCCACCGCCGACCAGGCAAGCCAG Direct Gain 0 0.978801303759888 NA NA prediction 0.957602607519776 Functional Gain - MIR3936HG ENSG00000233006 ncRNA_exonic Human processed_transcript chr5:131705587 chr5:131705587 . . 0 21 hm6Am_associated_SNPs_7017 1 Likely benign Renal carnitine transport defect RCV000022288.3
402 chr6 33408564 33408564 1 + C T UCEC 33408564 - 33408544 33408584 41 TGCGATGTCCTCCCGGCCTCGCTCTGCGCAGCGCAGCCGCC TGCGATGTCCTCCCGGCCTCACTCTGCGCAGCGCAGCCGCC Direct Gain 0 0.978800747227153 NA NA prediction 0.957601494454306 Functional Gain - SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33408564 chr6:33408564 stopgain 1.000 1 21 hm6Am_associated_SNPs_7018 2 Pathogenic Mental retardation, autosomal dominant 5 RCV000006765.2
402 chr6 33408564 33408564 1 + C T UCEC 33408564 - 33408544 33408584 41 TGCGATGTCCTCCCGGCCTCGCTCTGCGCAGCGCAGCCGCC TGCGATGTCCTCCCGGCCTCACTCTGCGCAGCGCAGCCGCC Direct Gain 0 0.978800747227153 NA NA prediction 0.957601494454306 Functional Gain - SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33408564 chr6:33408564 stopgain 1.000 1 21 hm6Am_associated_SNPs_7018 2 Pathogenic not provided RCV000255371.1
402 chr2 98330052 98330052 1 + C A rs2276645 98330052 + 98330032 98330072 41 ATAGGTTAGTTTCAGACAAGCCTGCTTGCCGGAGCTCAGCA ATAGGTTAGTTTCAGACAAGACTGCTTGCCGGAGCTCAGCA Direct Gain 0 0.978706376799883 NA NA prediction 0.957412753599765 Functional Gain - ZAP70 ENSG00000115085 UTR5 Human protein_coding chr2:98330052 chr2:98330052 . . 0 21 hm6Am_associated_SNPs_7048 1 Benign Severe Combined Immune Deficiency RCV000357744.1
402 chr2 171673378 171673378 1 + G A rs576236119 171673378 + 171673358 171673398 41 GCCTACCCCGGAGCCGTGCAGCCGCCTCTCCGAATCTCTCT GCCTACCCCGGAGCCGTGCAACCGCCTCTCCGAATCTCTCT Direct Gain 0 0.978473228312112 NA NA prediction 0.956946456624225 Functional Gain - GAD1 ENSG00000235934 ncRNA_exonic Human antisense chr2:171673378 chr2:171673378 . . 0 21 hm6Am_associated_SNPs_7115 1 Uncertain significance Cerebral palsy spastic quadriplegic RCV000373052.1
402 chr14 104029378 104029378 1 + C A rs2274268 104029378 + 104029358 104029398 41 GGAAGAAGACCTTTCTCCCCCCTCTCTGCCGCGCCTTCGCC GGAAGAAGACCTTTCTCCCCACTCTCTGCCGCGCCTTCGCC Direct Gain 0 0.978371371676195 NA NA prediction 0.956742743352389 Functional Gain - APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104029378 chr14:104029378 nonsynonymous SNV 0.000 0 21 hm6Am_associated_SNPs_7144 1 Likely benign not specified RCV000431734.1
402 chr19 42364126 42364126 1 + G A rs142324259 42364126 + 42364106 42364146 41 GGGAGAAGGAAACGCGGGAGGAAACCCAGGCCTCCACGCGC GGGAGAAGGAAACGCGGGAGAAAACCCAGGCCTCCACGCGC Direct Gain 0 0.97831006814109 NA NA prediction 0.956620136282179 Functional Gain - RPS19 ENSG00000105372 UTR5 Human protein_coding chr19:42364126 chr19:42364126 . . 0 21 hm6Am_associated_SNPs_7160 1 Likely benign Diamond-Blackfan anemia RCV000289918.1
402 chr18 72998422 72998422 1 + C T STAD 72998422 - 72998402 72998442 41 CGCCAGGTCCTGAAGCGCCCGCTTTTTGGTGGAGGGGACCA CGCCAGGTCCTGAAGCGCCCACTTTTTGGTGGAGGGGACCA Direct Gain 0 0.978264521419613 NA NA prediction 0.956529042839226 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998422 chr18:72998422 nonsynonymous SNV 0.937 4 21 hm6Am_associated_SNPs_7179 1 Likely benign Aural atresia, congenital RCV000308146.1
402 chr17 42977124 42977124 1 + G A rs148582322 42977124 + 42977104 42977144 41 GGCGTGGTCTGCGCGGGGTTGCCCTCCTGTTCTGGTTTATC GGCGTGGTCTGCGCGGGGTTACCCTCCTGTTCTGGTTTATC Direct Gain 0 0.978209993139822 NA NA prediction 0.956419986279644 Functional Gain - CCDC103 ENSG00000167131 UTR5 Human protein_coding chr17:42977124 chr17:42977124 . . 0 21 hm6Am_associated_SNPs_7194 1 Uncertain significance Primary ciliary dyskinesia RCV000323149.1
402 chr6 43484844 43484844 1 + G A rs2231756 43484844 + 43484824 43484864 41 TCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGC TCTAGTCTCGTGGAGAGATTAAAGATGGCGGCTTCTCAGGC Direct Gain 0 0.978204648474095 NA NA prediction 0.95640929694819 Functional Gain - POLR1C ENSG00000171453 UTR5 Human protein_coding chr6:43484844 chr6:43484844 . . 0 21 hm6Am_associated_SNPs_7197 2 Uncertain significance Treacher Collins Syndrome, Recessive RCV000342022.1
402 chr6 43484844 43484844 1 + G A rs2231756 43484844 + 43484824 43484864 41 TCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGC TCTAGTCTCGTGGAGAGATTAAAGATGGCGGCTTCTCAGGC Direct Gain 0 0.978204648474095 NA NA prediction 0.95640929694819 Functional Gain - POLR1C ENSG00000171453 UTR5 Human protein_coding chr6:43484844 chr6:43484844 . . 0 21 hm6Am_associated_SNPs_7197 2 Likely benign not specified RCV000503567.1
402 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.97813289224118 NA NA prediction 0.956265784482361 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm6Am_associated_SNPs_7221 3 Benign not specified RCV000128167.3
402 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.97813289224118 NA NA prediction 0.956265784482361 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm6Am_associated_SNPs_7221 3 Benign Loeys-Dietz syndrome RCV000264993.1
402 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.97813289224118 NA NA prediction 0.956265784482361 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm6Am_associated_SNPs_7221 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000323863.1
402 chr4 88929329 88929329 1 + C T rs181704860 88929329 - 88929309 88929349 41 CGCCGCCTCCCGCTCGGGTGGCCCGCGCCGTGGTAGCCCCC CGCCGCCTCCCGCTCGGGTGACCCGCGCCGTGGTAGCCCCC Direct Gain 0 0.977909971462028 NA NA prediction 0.955819942924055 Functional Gain - PKD2 ENSG00000118762 CDS Human protein_coding chr4:88929329 chr4:88929329 synonymous SNV . 0 21 hm6Am_associated_SNPs_7280 1 other not specified RCV000245425.1
402 chr19 47259280 47259280 1 + C T PAAD 47259280 - 47259260 47259300 41 GCATCTCCGTCCAGGGCGTCGCAGCGGGGCGCGGCGGGGGC GCATCTCCGTCCAGGGCGTCACAGCGGGGCGCGGCGGGGGC Direct Gain 0 0.977894152796459 NA NA prediction 0.955788305592919 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259280 chr19:47259280 synonymous SNV . 0 21 hm6Am_associated_SNPs_7284 1 Likely benign not specified RCV000424811.1
402 chr3 46742941 46742941 1 + C A rs530579940 46742941 + 46742921 46742961 41 TGACCGGCGGCCGGCCCGTTCGTCCCTGGGCTCCGCAAGCG TGACCGGCGGCCGGCCCGTTAGTCCCTGGGCTCCGCAAGCG Direct Gain 0 0.977603412270339 NA NA prediction 0.955206824540679 Functional Gain - TMIE ENSG00000181585 UTR5 Human protein_coding chr3:46742941 chr3:46742941 . . 0 21 hm6Am_associated_SNPs_7371 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000358521.1
402 chr16 86547546 86547546 1 + C T rs182779285 86547546 - 86547526 86547566 41 GCCGTCCTAGTCCCTGCGTCGCGCTGTGTTCGGCTCGTTCT GCCGTCCTAGTCCCTGCGTCACGCTGTGTTCGGCTCGTTCT Direct Gain 0 0.977161511609204 NA NA prediction 0.954323023218408 Functional Gain - FOXF1 ENSG00000103241 UTR3 Human protein_coding chr16:86547546 chr16:86547546 . . 0 21 hm6Am_associated_SNPs_7511 1 Benign Alveolar capillary dysplasia with misalignment of pulmonary veins RCV000338840.1
402 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.97710081245202 NA NA prediction 0.95420162490404 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm6Am_associated_SNPs_7533 3 Uncertain significance not specified RCV000278464.1
402 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.97710081245202 NA NA prediction 0.95420162490404 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm6Am_associated_SNPs_7533 3 Likely benign Arterial calcification of infancy RCV000285163.1
402 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.97710081245202 NA NA prediction 0.95420162490404 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm6Am_associated_SNPs_7533 3 Likely benign Hypophosphatemic Rickets, Recessive RCV000342615.1
402 chr20 44519643 44519643 1 + G A rs2868362 44519643 + 44519623 44519663 41 GCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGG GCAGCCATCTCTCGGCCATAAGGCAGGCCAGCTGGCGCCGG Direct Gain 0 0.977029760326154 NA NA prediction 0.954059520652307 Functional Gain - CTSA;NEURL2 ENSG00000064601;ENSG00000124257 UTR5 Human other chr20:44519643 chr20:44519643 . . 0 21 hm6Am_associated_SNPs_7563 1 Benign Combined deficiency of sialidase AND beta galactosidase RCV000364953.1
402 chr16 83932743 83932743 1 + G A rs9930103 83932743 + 83932723 83932763 41 CCCCCTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGG CCCCCTCGGCAGCTGTTGTGAGGCACCATGCGAGGCTTCGG Direct Gain 0 0.976880186120871 NA NA prediction 0.953760372241742 Functional Gain - MLYCD ENSG00000103150 UTR5 Human protein_coding chr16:83932743 chr16:83932743 . . 0 21 hm6Am_associated_SNPs_7606 1 Likely benign not specified RCV000434031.1
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 Benign not specified RCV000079161.7
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 not provided not provided RCV000119684.1
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 Benign Central core disease RCV000303882.1
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 Benign Neuromuscular disease, congenital, with uniform type 1 fiber RCV000341260.1
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 Benign Malignant hyperthermia susceptibility RCV000365420.1
402 chr19 38990336 38990336 1 + C T rs2228071 38990336 - 38990316 38990356 41 CCCCGCAGGGCGGGTCCGAAGCACTCAGGCTTCCGGATGAG CCCCGCAGGGCGGGTCCGAAACACTCAGGCTTCCGGATGAG Direct Gain 0 0.976679557237019 NA NA prediction 0.953359114474039 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38990336 chr19:38990336 synonymous SNV . 0 21 hm6Am_associated_SNPs_7684 6 Benign Multiminicore Disease RCV000393391.1
402 chr9 133884600 133884600 1 + C T rs137883250 133884600 - 133884580 133884620 41 GAAGCGCAGCCGCCGCCATGGTCAAGGGCACCGACGCCGCG GAAGCGCAGCCGCCGCCATGATCAAGGGCACCGACGCCGCG Direct Gain 0 0.976663880060495 NA NA prediction 0.95332776012099 Functional Gain - LAMC3 ENSG00000050555 UTR5 Human protein_coding chr9:133884600 chr9:133884600 . . 0 21 hm6Am_associated_SNPs_7691 2 other not specified RCV000388002.2
402 chr9 133884600 133884600 1 + C T rs137883250 133884600 - 133884580 133884620 41 GAAGCGCAGCCGCCGCCATGGTCAAGGGCACCGACGCCGCG GAAGCGCAGCCGCCGCCATGATCAAGGGCACCGACGCCGCG Direct Gain 0 0.976663880060495 NA NA prediction 0.95332776012099 Functional Gain - LAMC3 ENSG00000050555 UTR5 Human protein_coding chr9:133884600 chr9:133884600 . . 0 21 hm6Am_associated_SNPs_7691 2 Uncertain significance not provided RCV000415912.2
402 chr18 20513376 20513376 1 + G A rs115479920 20513376 + 20513356 20513396 41 CCGGCCTTAAAGCGCGGGCTGTCCGGAGGGGTCGGCTTTCC CCGGCCTTAAAGCGCGGGCTATCCGGAGGGGTCGGCTTTCC Direct Gain 0 0.976210167260355 NA NA prediction 0.952420334520709 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513376 chr18:20513376 . . 0 21 hm6Am_associated_SNPs_7822 2 Uncertain significance Seckel syndrome RCV000305459.1
402 chr18 20513376 20513376 1 + G A rs115479920 20513376 + 20513356 20513396 41 CCGGCCTTAAAGCGCGGGCTGTCCGGAGGGGTCGGCTTTCC CCGGCCTTAAAGCGCGGGCTATCCGGAGGGGTCGGCTTTCC Direct Gain 0 0.976210167260355 NA NA prediction 0.952420334520709 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513376 chr18:20513376 . . 0 21 hm6Am_associated_SNPs_7822 2 Uncertain significance Microcephaly with mental retardation and digital anomalies RCV000341654.1
402 chr1 26758773 26758773 1 + G A rs6656196 26758773 + 26758753 26758793 41 GGTGACGGAAGGGGCGTGTCGCAGCGCCCAAAGATGACGTG GGTGACGGAAGGGGCGTGTCACAGCGCCCAAAGATGACGTG Direct Gain 0 0.976059253678394 NA NA prediction 0.952118507356789 Functional Gain - DHDDS ENSG00000117682 UTR5 Human protein_coding chr1:26758773 chr1:26758773 . . 0 21 hm6Am_associated_SNPs_7860 1 Likely benign Retinitis Pigmentosa, Recessive RCV000270561.1
402 chr4 110834390 110834390 1 + G A rs11568848 110834390 + 110834370 110834410 41 GCCCCAGGGCTGAGGCCTCCGCTCAGGCAGCCGCATCTGGG GCCCCAGGGCTGAGGCCTCCACTCAGGCAGCCGCATCTGGG Direct Gain 0 0.97583203743828 NA NA prediction 0.95166407487656 Functional Gain - EGF ENSG00000138798 UTR5 Human protein_coding chr4:110834390 chr4:110834390 . . 0 21 hm6Am_associated_SNPs_7937 1 Uncertain significance Renal Hypomagnesemia, Recessive RCV000306711.1
402 chr1 55518370 55518370 1 + C T rs7552471 55518370 - 55518350 55518390 41 GCCACGCCGGCATCCCGGCCGCTGACCACCCCTGCCAGGTG GCCACGCCGGCATCCCGGCCACTGACCACCCCTGCCAGGTG Direct Gain 0 0.975580561998485 NA NA prediction 0.95116112399697 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518370 chr1:55518370 synonymous SNV . 0 21 hm6Am_associated_SNPs_8026 3 other Familial hypercholesterolemia RCV000256235.2
402 chr1 55518370 55518370 1 + C T rs7552471 55518370 - 55518350 55518390 41 GCCACGCCGGCATCCCGGCCGCTGACCACCCCTGCCAGGTG GCCACGCCGGCATCCCGGCCACTGACCACCCCTGCCAGGTG Direct Gain 0 0.975580561998485 NA NA prediction 0.95116112399697 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518370 chr1:55518370 synonymous SNV . 0 21 hm6Am_associated_SNPs_8026 3 Likely benign Familial hypobetalipoproteinemia RCV000260499.1
402 chr1 55518370 55518370 1 + C T rs7552471 55518370 - 55518350 55518390 41 GCCACGCCGGCATCCCGGCCGCTGACCACCCCTGCCAGGTG GCCACGCCGGCATCCCGGCCACTGACCACCCCTGCCAGGTG Direct Gain 0 0.975580561998485 NA NA prediction 0.95116112399697 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518370 chr1:55518370 synonymous SNV . 0 21 hm6Am_associated_SNPs_8026 3 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000469042.1
402 chr4 56212464 56212464 1 + G A rs111568566 56212464 + 56212444 56212484 41 TCTTCCGCGGGCTAGCGGGCGGTGGGGGCGCCAGCAGCGCG TCTTCCGCGGGCTAGCGGGCAGTGGGGGCGCCAGCAGCGCG Direct Gain 0 0.975491178740278 NA NA prediction 0.950982357480556 Functional Gain - SRD5A3 ENSG00000128039 UTR5 Human protein_coding chr4:56212464 chr4:56212464 . . 0 21 hm6Am_associated_SNPs_8056 2 Likely benign Congenital disorder of glycosylation RCV000282157.1
402 chr4 56212464 56212464 1 + G A rs111568566 56212464 + 56212444 56212484 41 TCTTCCGCGGGCTAGCGGGCGGTGGGGGCGCCAGCAGCGCG TCTTCCGCGGGCTAGCGGGCAGTGGGGGCGCCAGCAGCGCG Direct Gain 0 0.975491178740278 NA NA prediction 0.950982357480556 Functional Gain - SRD5A3 ENSG00000128039 UTR5 Human protein_coding chr4:56212464 chr4:56212464 . . 0 21 hm6Am_associated_SNPs_8056 2 Likely benign not specified RCV000426350.1
402 chr16 72056285 72056285 1 + C T COAD 72056285 - 72056265 72056305 41 TGCCGGCCTGTGCACTCTCCGCAAGCCATCCCTCTCCTGCA TGCCGGCCTGTGCACTCTCCACAAGCCATCCCTCTCCTGCA Direct Gain 0 0.975369175231027 NA NA prediction 0.950738350462055 Functional Gain - DHODH ENSG00000102967 CDS Human protein_coding chr16:72056285 chr16:72056285 nonsynonymous SNV 0.018 3 21 hm6Am_associated_SNPs_8103 1 Pathogenic Miller syndrome RCV000018297.23
402 chr1 227174408 227174408 1 + C T rs56043893 227174408 - 227174388 227174428 41 GCCTGCCTCTTGCAGTAGTTGCTGTAGGCCTCCTCGAACAT GCCTGCCTCTTGCAGTAGTTACTGTAGGCCTCCTCGAACAT Direct Gain 0 0.975262074714356 NA NA prediction 0.950524149428712 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hm6Am_associated_SNPs_8122 3 Benign not specified RCV000198439.1
402 chr1 227174408 227174408 1 + C T rs56043893 227174408 - 227174388 227174428 41 GCCTGCCTCTTGCAGTAGTTGCTGTAGGCCTCCTCGAACAT GCCTGCCTCTTGCAGTAGTTACTGTAGGCCTCCTCGAACAT Direct Gain 0 0.975262074714356 NA NA prediction 0.950524149428712 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hm6Am_associated_SNPs_8122 3 Likely benign Spinocerebellar Ataxia, Recessive RCV000279570.1
402 chr1 227174408 227174408 1 + C T rs56043893 227174408 - 227174388 227174428 41 GCCTGCCTCTTGCAGTAGTTGCTGTAGGCCTCCTCGAACAT GCCTGCCTCTTGCAGTAGTTACTGTAGGCCTCCTCGAACAT Direct Gain 0 0.975262074714356 NA NA prediction 0.950524149428712 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hm6Am_associated_SNPs_8122 3 Likely benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type RCV000372202.1
402 chr22 38153696 38153696 1 + C T rs183941928 38153696 - 38153676 38153716 41 GATGACCTCAGAGCCCGCCCGCTGCTCCCCTGCCTTCAGGG GATGACCTCAGAGCCCGCCCACTGCTCCCCTGCCTTCAGGG Direct Gain 0 0.975208289174121 NA NA prediction 0.950416578348243 Functional Gain - TRIOBP ENSG00000100106 CDS Human protein_coding chr22:38153696 chr22:38153696 nonsynonymous SNV 0.861 3 21 hm6Am_associated_SNPs_8147 1 Likely benign not specified RCV000252969.1
402 chr12 110719355 110719355 1 + G A rs577127824 110719355 + 110719335 110719375 41 CTTCTGGCGAGGGGAGGGAGGGTGGGTCAGGAGCCCCCAAC CTTCTGGCGAGGGGAGGGAGAGTGGGTCAGGAGCCCCCAAC Direct Gain 0 0.975101196446992 NA NA prediction 0.950202392893985 Functional Gain - ATP2A2 ENSG00000174437 UTR5 Human protein_coding chr12:110719355 chr12:110719355 . . 0 21 hm6Am_associated_SNPs_8178 1 Likely benign Keratosis follicularis RCV000377914.1
402 chr5 76506728 76506728 1 + G T rs574193520 76506728 - 76506708 76506748 41 CTCGGCCGGGCTCCCCCGCGCGCCCGCCCGCGCCCGCGGCC CTCGGCCGGGCTCCCCCGCGAGCCCGCCCGCGCCCGCGGCC Direct Gain 0 0.974961186430498 NA NA prediction 0.949922372860996 Functional Gain - PDE8B ENSG00000113231 UTR5 Human protein_coding chr5:76506728 chr5:76506728 . . 0 21 hm6Am_associated_SNPs_8223 1 Likely benign Striatal Degeneration RCV000387760.1
402 chr5 131705547 131705547 1 + G A rs538643468 131705547 + 131705527 131705567 41 CGAGCCTACCCTCCGCGGACGGTCTTGGGTCGCCTGCTGCC CGAGCCTACCCTCCGCGGACAGTCTTGGGTCGCCTGCTGCC Direct Gain 0 0.974543876578251 NA NA prediction 0.949087753156502 Functional Gain - MIR3936HG ENSG00000233006 ncRNA_exonic Human processed_transcript chr5:131705547 chr5:131705547 . . 0 21 hm6Am_associated_SNPs_8352 1 Uncertain significance Renal carnitine transport defect RCV000381602.1
402 chr17 78083804 78083804 1 + C T COAD 78083804 - 78083784 78083824 41 GGTGATGAAAACCCCCCTCCGCAGACCCTCGTCGTAGGGCC GGTGATGAAAACCCCCCTCCACAGACCCTCGTCGTAGGGCC Direct Gain 0 0.974474855386196 NA NA prediction 0.948949710772392 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78083804 chr17:78083804 nonsynonymous SNV 0.879 4 21 hm6Am_associated_SNPs_8380 1 Uncertain significance not specified RCV000261064.1
402 chrX 48370320 48370320 1 + C T COAD 48370320 - 48370300 48370340 41 GGGGCAGGGCTACCTACCTCGCATCTTGTGCCATGTCACGG GGGGCAGGGCTACCTACCTCACATCTTGTGCCATGTCACGG Direct Gain 0 0.97445963459356 NA NA prediction 0.948919269187121 Functional Gain - PORCN ENSG00000102312 CDS Human protein_coding chrX:48370320 chrX:48370320 stopgain 0.999 1 21 hm6Am_associated_SNPs_8384 1 Pathogenic Focal dermal hypoplasia RCV000011448.3
402 chr16 88504618 88504618 1 + C T rs527707590 88504618 - 88504598 88504638 41 GGGCTGCCTGGGGAAGCCTCGTTCTCTGGCCTCTCCAGGGC GGGCTGCCTGGGGAAGCCTCATTCTCTGGCCTCTCCAGGGC Direct Gain 0 0.97441171905305 NA NA prediction 0.948823438106099 Functional Gain - ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88504618 chr16:88504618 synonymous SNV . 0 21 hm6Am_associated_SNPs_8402 1 Uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000345986.1
402 chr2 189839136 189839136 1 + G A rs41265575 189839136 + 189839116 189839156 41 GGCCCGGTGCTGAAGGGCAGGGAACAACTTGATGGTGCTAC GGCCCGGTGCTGAAGGGCAGAGAACAACTTGATGGTGCTAC Direct Gain 0 0.974249964034852 NA NA prediction 0.948499928069703 Functional Gain - COL3A1 ENSG00000168542 UTR5 Human protein_coding chr2:189839136 chr2:189839136 . . 0 21 hm6Am_associated_SNPs_8464 1 Likely benign Ehlers-Danlos syndrome, type 4 RCV000259386.1
402 chr7 66103980 66103980 1 + C T UCEC 66103980 - 66103960 66104000 41 ACTCTCACTCCGCTCAAATCGCAGGGAGTTGAGGAGCGGAC ACTCTCACTCCGCTCAAATCACAGGGAGTTGAGGAGCGGAC Direct Gain 0 0.974221231081569 NA NA prediction 0.948442462163138 Functional Gain - KCTD7 ENSG00000243335 CDS Human protein_coding chr7:66103980 chr7:66103980 stopgain 0.970 0 21 hm6Am_associated_SNPs_8477 1 Pathogenic not provided RCV000426305.1
402 chr22 21213394 21213394 1 + G A rs139884576 21213394 + 21213374 21213414 41 CCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTA CCAGACCGAGAGCCGCGCCGACACCATGTCAGCTTACCCTA Direct Gain 0 0.974065597802562 NA NA prediction 0.948131195605124 Functional Gain - SNAP29 ENSG00000099940 UTR5 Human protein_coding chr22:21213394 chr22:21213394 . . 0 21 hm6Am_associated_SNPs_8533 1 Likely benign Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000377736.1
402 chr10 52834320 52834320 1 + C T rs41274080 52834320 - 52834300 52834340 41 GCTGCCGGGGGCTCCTTCCTGCCGCTGCTCCGCGTCTTGAG GCTGCCGGGGGCTCCTTCCTACCGCTGCTCCGCGTCTTGAG Direct Gain 0 0.973920509490533 NA NA prediction 0.947841018981067 Functional Gain - PRKG1 ENSG00000185532 UTR5 Human protein_coding chr10:52834320 chr10:52834320 . . 0 21 hm6Am_associated_SNPs_8586 1 Benign not specified RCV000422806.1
402 chr11 6413332 6413332 1 + C T COAD 6413332 - 6413312 6413352 41 GCTCCCAAGCCTTGGCCATCGCTTCATAGAGCCAGCGGGAG GCTCCCAAGCCTTGGCCATCACTTCATAGAGCCAGCGGGAG Direct Gain 0 0.97366778690879 NA NA prediction 0.94733557381758 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6413332 chr11:6413332 nonsynonymous SNV 0.935 4 21 hm6Am_associated_SNPs_8656 1 Uncertain significance not specified RCV000337275.1
402 chr10 23481621 23481621 1 + C T rs117678424 23481621 - 23481601 23481641 41 CAGTACTCGTGGAGCTGGTGGCTAAGGAACTCCACCTCGGC CAGTACTCGTGGAGCTGGTGACTAAGGAACTCCACCTCGGC Direct Gain 0 0.973509476587424 NA NA prediction 0.947018953174848 Functional Gain - PTF1A ENSG00000168267 CDS Human protein_coding chr10:23481621 chr10:23481621 synonymous SNV . 0 21 hm6Am_associated_SNPs_8714 1 Likely benign Permanent neonatal diabetes mellitus (PNDM) RCV000365135.1
402 chr4 140375186 140375186 1 + G A rs76593161 140375186 + 140375166 140375206 41 CCACACCTGTGCGGGCAAGGGCGGGGCGGGAAGGTGCGCAG CCACACCTGTGCGGGCAAGGACGGGGCGGGAAGGTGCGCAG Direct Gain 0 0.973475290538103 NA NA prediction 0.946950581076205 Functional Gain - RAB33B ENSG00000273247 ncRNA_exonic Human antisense chr4:140375186 chr4:140375186 . . 0 21 hm6Am_associated_SNPs_8730 1 Likely benign Smith-McCort dysplasia RCV000311411.1
402 chr2 178257552 178257552 1 + G A rs557931141 178257552 + 178257532 178257572 41 GGCTGCAGCGGGTGGGACTGGCTTGGGCGCGGGCGCGAGCT GGCTGCAGCGGGTGGGACTGACTTGGGCGCGGGCGCGAGCT Direct Gain 0 0.973318839619443 NA NA prediction 0.946637679238887 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257552 chr2:178257552 nonsynonymous SNV 0.032 1 21 hm6Am_associated_SNPs_8796 2 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000348540.1
402 chr2 178257552 178257552 1 + G A rs557931141 178257552 + 178257532 178257572 41 GGCTGCAGCGGGTGGGACTGGCTTGGGCGCGGGCGCGAGCT GGCTGCAGCGGGTGGGACTGACTTGGGCGCGGGCGCGAGCT Direct Gain 0 0.973318839619443 NA NA prediction 0.946637679238887 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257552 chr2:178257552 nonsynonymous SNV 0.032 1 21 hm6Am_associated_SNPs_8796 2 Likely benign not specified RCV000423931.1
402 chr17 78178893 78178893 1 + C T rs11652075 78178893 - 78178873 78178913 41 CCGGGCGGGTCGATGGGGCCGCACCAGGGTATAGGGCACCA CCGGGCGGGTCGATGGGGCCACACCAGGGTATAGGGCACCA Direct Gain 0 0.973290008496219 NA NA prediction 0.946580016992438 Functional Gain - CARD14 ENSG00000141527 CDS Human protein_coding chr17:78178893 chr17:78178893 nonsynonymous SNV 0.297 1 21 hm6Am_associated_SNPs_8806 1 Benign not specified RCV000454417.1
402 chr15 42695111 42695111 1 + C T LUAD 42695111 - 42695091 42695131 41 GAGGGCACGATGACGTACTCGCTGGGAGGCAGGCGGAAGCG GAGGGCACGATGACGTACTCACTGGGAGGCAGGCGGAAGCG Direct Gain 0 0.973267198648696 NA NA prediction 0.946534397297392 Functional Gain - CAPN3 ENSG00000092529 CDS Human protein_coding chr15:42695111 chr15:42695111 synonymous SNV . 0 21 hm6Am_associated_SNPs_8809 1 Uncertain significance not specified RCV000345342.1
402 chr2 112656279 112656279 1 + G A rs141412373 112656279 + 112656259 112656299 41 GGACGTCCATCTGTCCATCCGTCCGGAGAGAAATTACAGAT GGACGTCCATCTGTCCATCCATCCGGAGAGAAATTACAGAT Direct Gain 0 0.973150354948218 NA NA prediction 0.946300709896436 Functional Gain - MERTK ENSG00000153208 UTR5 Human protein_coding chr2:112656279 chr2:112656279 . . 0 21 hm6Am_associated_SNPs_8846 1 Likely benign Retinitis Pigmentosa, Recessive RCV000390424.1
402 chr4 55524168 55524168 1 + T A rs140909964 55524168 + 55524148 55524188 41 GGACCAGAGCTCGGATCCCATCGCAGCTACCGCGATGAGAG GGACCAGAGCTCGGATCCCAACGCAGCTACCGCGATGAGAG Direct Gain 0 0.973133357492316 NA NA prediction 0.946266714984632 Functional Gain - KIT ENSG00000157404 UTR5 Human protein_coding chr4:55524168 chr4:55524168 . . 0 21 hm6Am_associated_SNPs_8853 4 Likely benign not specified RCV000244072.1
402 chr4 55524168 55524168 1 + T A rs140909964 55524168 + 55524148 55524188 41 GGACCAGAGCTCGGATCCCATCGCAGCTACCGCGATGAGAG GGACCAGAGCTCGGATCCCAACGCAGCTACCGCGATGAGAG Direct Gain 0 0.973133357492316 NA NA prediction 0.946266714984632 Functional Gain - KIT ENSG00000157404 UTR5 Human protein_coding chr4:55524168 chr4:55524168 . . 0 21 hm6Am_associated_SNPs_8853 4 Uncertain significance Mastocytosis RCV000295737.1
402 chr4 55524168 55524168 1 + T A rs140909964 55524168 + 55524148 55524188 41 GGACCAGAGCTCGGATCCCATCGCAGCTACCGCGATGAGAG GGACCAGAGCTCGGATCCCAACGCAGCTACCGCGATGAGAG Direct Gain 0 0.973133357492316 NA NA prediction 0.946266714984632 Functional Gain - KIT ENSG00000157404 UTR5 Human protein_coding chr4:55524168 chr4:55524168 . . 0 21 hm6Am_associated_SNPs_8853 4 Uncertain significance Partial albinism RCV000330786.1
402 chr4 55524168 55524168 1 + T A rs140909964 55524168 + 55524148 55524188 41 GGACCAGAGCTCGGATCCCATCGCAGCTACCGCGATGAGAG GGACCAGAGCTCGGATCCCAACGCAGCTACCGCGATGAGAG Direct Gain 0 0.973133357492316 NA NA prediction 0.946266714984632 Functional Gain - KIT ENSG00000157404 UTR5 Human protein_coding chr4:55524168 chr4:55524168 . . 0 21 hm6Am_associated_SNPs_8853 4 Uncertain significance Gastrointestinal stromal tumor RCV000385308.1
402 chr8 15397667 15397667 1 + G A rs3810773 15397667 + 15397647 15397687 41 GGAAAGGCAAGCTCCGGGCGGGAGCGCACGCCGCGCCCCCG GGAAAGGCAAGCTCCGGGCGAGAGCGCACGCCGCGCCCCCG Direct Gain 0 0.972490047693045 NA NA prediction 0.94498009538609 Functional Gain - TUSC3 ENSG00000104723 upstream Human protein_coding chr8:15397667 chr8:15397667 . . 0 21 hm6Am_associated_SNPs_9086 1 Uncertain significance Congenital disorder of glycosylation RCV000360183.1
402 chr8 48873515 48873515 1 + C T rs559247482 48873515 - 48873495 48873535 41 CCGAGTCCACCTGGCGAGTAGCGCTCCCAAACCGCGAGACC CCGAGTCCACCTGGCGAGTAACGCTCCCAAACCGCGAGACC Direct Gain 0 0.972419587974093 NA NA prediction 0.944839175948185 Functional Gain - MCM4 ENSG00000104738 UTR5 Human protein_coding chr8:48873515 chr8:48873515 . . 0 21 hm6Am_associated_SNPs_9122 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000289770.1
402 chr16 81348649 81348649 1 + C T rs558816909 81348649 - 81348629 81348669 41 CCGGACCCCTCGAGCGGCCCGAGTCCTGCGCGCGCGCCCGC CCGGACCCCTCGAGCGGCCCAAGTCCTGCGCGCGCGCCCGC Direct Gain 0 0.972255062474908 NA NA prediction 0.944510124949817 Functional Gain - GAN ENSG00000261609 UTR5 Human protein_coding chr16:81348649 chr16:81348649 . . 0 21 hm6Am_associated_SNPs_9181 1 Uncertain significance Giant axonal neuropathy RCV000373298.1
402 chr2 171673452 171673452 1 + G A rs561714411 171673452 + 171673432 171673472 41 GCGAGAACGAGGAAGCAGCTGGAGGTGACGCCGGGCAGATT GCGAGAACGAGGAAGCAGCTAGAGGTGACGCCGGGCAGATT Direct Gain 0 0.972171147682259 NA NA prediction 0.944342295364518 Functional Gain - GAD1 ENSG00000235934 ncRNA_exonic Human antisense chr2:171673452 chr2:171673452 . . 0 21 hm6Am_associated_SNPs_9207 1 Uncertain significance Cerebral palsy spastic quadriplegic RCV000320858.1
402 chr17 61555472 61555472 1 + C T rs3729660 61555472 - 61555452 61555492 41 CGCCCCCGAGCTCTGCCTCAGCCCTCAGCCCACCTGCTGCC CGCCCCCGAGCTCTGCCTCAACCCTCAGCCCACCTGCTGCC Direct Gain 0 0.972055373826107 NA NA prediction 0.944110747652213 Functional Gain - ACE ENSG00000159640 intronic Human protein_coding chr17:61555472 chr17:61555472 . . 0 21 hm6Am_associated_SNPs_9251 1 Uncertain significance Renal dysplasia RCV000398352.1
402 chr10 85954516 85954516 1 + C T rs114273269 85954516 - 85954496 85954536 41 GCCCACCGGCAGCGCCTCATGTCTCCGCCGGCGCGGAGTGT GCCCACCGGCAGCGCCTCATATCTCCGCCGGCGCGGAGTGT Direct Gain 0 0.971927933585869 NA NA prediction 0.943855867171739 Functional Gain - CDHR1 ENSG00000148600 UTR5 Human protein_coding chr10:85954516 chr10:85954516 . . 0 21 hm6Am_associated_SNPs_9307 2 Benign not specified RCV000173547.1
402 chr10 85954516 85954516 1 + C T rs114273269 85954516 - 85954496 85954536 41 GCCCACCGGCAGCGCCTCATGTCTCCGCCGGCGCGGAGTGT GCCCACCGGCAGCGCCTCATATCTCCGCCGGCGCGGAGTGT Direct Gain 0 0.971927933585869 NA NA prediction 0.943855867171739 Functional Gain - CDHR1 ENSG00000148600 UTR5 Human protein_coding chr10:85954516 chr10:85954516 . . 0 21 hm6Am_associated_SNPs_9307 2 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000355055.1
402 chr17 71189242 71189242 1 + C T rs201263432 71189242 - 71189222 71189262 41 AGGGTCGCGCAGATCCAGCCGCTTCAGCGCGGGTGAGGTTG AGGGTCGCGCAGATCCAGCCACTTCAGCGCGGGTGAGGTTG Direct Gain 0 0.971821905002209 NA NA prediction 0.943643810004418 Functional Gain - COG1 ENSG00000166685 CDS Human protein_coding chr17:71189242 chr17:71189242 nonsynonymous SNV 0.940 3 21 hm6Am_associated_SNPs_9337 1 Uncertain significance not specified RCV000173467.1
402 chr2 198570877 198570877 1 + C T rs61749522 198570877 - 198570857 198570897 41 AGACACGGACAGGTCGGGCAGCTCCTCGTCCAGCCACTGAA AGACACGGACAGGTCGGGCAACTCCTCGTCCAGCCACTGAA Direct Gain 0 0.971690914425102 NA NA prediction 0.943381828850204 Functional Gain - MARS2 ENSG00000247626 CDS Human protein_coding chr2:198570877 chr2:198570877 synonymous SNV . 0 21 hm6Am_associated_SNPs_9390 1 Benign not specified RCV000442956.1
402 chr11 118175439 118175439 1 + G A rs2231440 118175439 + 118175419 118175459 41 GCCTCTCTACTTCCTGTGTGGGGTTCAGAAACCCTCCTCCC GCCTCTCTACTTCCTGTGTGAGGTTCAGAAACCCTCCTCCC Direct Gain 0 0.971510081527724 NA NA prediction 0.943020163055449 Functional Gain - CD3E ENSG00000198851 UTR5 Human protein_coding chr11:118175439 chr11:118175439 . . 0 21 hm6Am_associated_SNPs_9443 1 Benign Severe Combined Immune Deficiency RCV000370695.1
402 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.971498674034482 NA NA prediction 0.942997348068964 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm6Am_associated_SNPs_9448 3 other not specified RCV000177136.3
402 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.971498674034482 NA NA prediction 0.942997348068964 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm6Am_associated_SNPs_9448 3 Likely benign Myosclerosis RCV000295895.1
402 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.971498674034482 NA NA prediction 0.942997348068964 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm6Am_associated_SNPs_9448 3 Likely benign Collagen VI-related myopathy RCV000387780.1
402 chr5 86564564 86564564 1 + C T rs111840875 86564564 - 86564544 86564584 41 CAGCACCGGCCACGCCAGCAGCAGCACCAGCTACGCCAGCA CAGCACCGGCCACGCCAGCAACAGCACCAGCTACGCCAGCA Direct Gain 0 0.971055359895659 NA NA prediction 0.942110719791318 Functional Gain - RASA1 ENSG00000145715 CDS Human protein_coding chr5:86564564 chr5:86564564 nonsynonymous SNV 0.997 0 21 hm6Am_associated_SNPs_9609 3 Benign not specified RCV000199589.2
402 chr5 86564564 86564564 1 + C T rs111840875 86564564 - 86564544 86564584 41 CAGCACCGGCCACGCCAGCAGCAGCACCAGCTACGCCAGCA CAGCACCGGCCACGCCAGCAACAGCACCAGCTACGCCAGCA Direct Gain 0 0.971055359895659 NA NA prediction 0.942110719791318 Functional Gain - RASA1 ENSG00000145715 CDS Human protein_coding chr5:86564564 chr5:86564564 nonsynonymous SNV 0.997 0 21 hm6Am_associated_SNPs_9609 3 Likely benign Parkes Weber syndrome RCV000279612.1
402 chr5 86564564 86564564 1 + C T rs111840875 86564564 - 86564544 86564584 41 CAGCACCGGCCACGCCAGCAGCAGCACCAGCTACGCCAGCA CAGCACCGGCCACGCCAGCAACAGCACCAGCTACGCCAGCA Direct Gain 0 0.971055359895659 NA NA prediction 0.942110719791318 Functional Gain - RASA1 ENSG00000145715 CDS Human protein_coding chr5:86564564 chr5:86564564 nonsynonymous SNV 0.997 0 21 hm6Am_associated_SNPs_9609 3 other Capillary malformation-arteriovenous malformation RCV000351057.1
402 chr20 47538400 47538400 1 + G A rs550163684 47538400 + 47538380 47538420 41 TCACGCCGCCCGCCCGCGGGGCCGTCAGCCCCCGCCGGGCC TCACGCCGCCCGCCCGCGGGACCGTCAGCCCCCGCCGGGCC Direct Gain 0 0.970892906268512 NA NA prediction 0.941785812537025 Functional Gain - ARFGEF2 ENSG00000124198 upstream Human protein_coding chr20:47538400 chr20:47538400 . . 0 21 hm6Am_associated_SNPs_9673 1 Likely benign not specified RCV000421438.1
402 chr1 156108383 156108383 1 + C T HNSC 156108383 - 156108363 156108403 41 CCCACCTGGGCTCCTGAGCCGCTGGCAGATGCCTTGTCGGC CCCACCTGGGCTCCTGAGCCACTGGCAGATGCCTTGTCGGC Direct Gain 0 0.9708235542869 NA NA prediction 0.9416471085738 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156108383 chr1:156108383 synonymous SNV . 0 21 hm6Am_associated_SNPs_9706 1 not provided not provided RCV000057360.1
402 chr17 15903090 15903090 1 + G A rs149555498 15903090 + 15903070 15903110 41 CGTCAGGGCCCGGCCAATCCGGAGGGCGCTCGGCGCGTGGT CGTCAGGGCCCGGCCAATCCAGAGGGCGCTCGGCGCGTGGT Direct Gain 0 0.970701687550523 NA NA prediction 0.941403375101046 Functional Gain - TTC19 ENSG00000011295 CDS Human protein_coding chr17:15903090 chr17:15903090 synonymous SNV . 0 21 hm6Am_associated_SNPs_9761 2 Uncertain significance Mitochondrial complex III deficiency RCV000305832.1
402 chr17 15903090 15903090 1 + G A rs149555498 15903090 + 15903070 15903110 41 CGTCAGGGCCCGGCCAATCCGGAGGGCGCTCGGCGCGTGGT CGTCAGGGCCCGGCCAATCCAGAGGGCGCTCGGCGCGTGGT Direct Gain 0 0.970701687550523 NA NA prediction 0.941403375101046 Functional Gain - TTC19 ENSG00000011295 CDS Human protein_coding chr17:15903090 chr17:15903090 synonymous SNV . 0 21 hm6Am_associated_SNPs_9761 2 Uncertain significance not specified RCV000328517.1
402 chr15 38545294 38545294 1 + C T rs192699510 38545294 - 38545274 38545314 41 GGCAGGAGGCAGCGGCGGCCGGGGGGGCGCGGGGGCAGCGG GGCAGGAGGCAGCGGCGGCCAGGGGGGCGCGGGGGCAGCGG Direct Gain 0 0.970651453425958 NA NA prediction 0.941302906851917 Functional Gain - SPRED1 ENSG00000166068 UTR5 Human protein_coding chr15:38545294 chr15:38545294 . . 0 21 hm6Am_associated_SNPs_9785 1 Likely benign Legius syndrome RCV000271573.1
402 chr7 30634313 30634313 1 + G A rs148593022 30634313 + 30634293 30634333 41 CTGTGCAAATCTGTTCGCTCGCAACCCTACCTACCTCTCTC CTGTGCAAATCTGTTCGCTCACAACCCTACCTACCTCTCTC Direct Gain 0 0.970614980370979 NA NA prediction 0.941229960741958 Functional Gain - GARS ENSG00000196295 ncRNA_intronic Human processed_transcript chr7:30634313 chr7:30634313 . . 0 21 hm6Am_associated_SNPs_9796 3 Likely benign Distal spinal muscular atrophy RCV000276196.1
402 chr7 30634313 30634313 1 + G A rs148593022 30634313 + 30634293 30634333 41 CTGTGCAAATCTGTTCGCTCGCAACCCTACCTACCTCTCTC CTGTGCAAATCTGTTCGCTCACAACCCTACCTACCTCTCTC Direct Gain 0 0.970614980370979 NA NA prediction 0.941229960741958 Functional Gain - GARS ENSG00000196295 ncRNA_intronic Human processed_transcript chr7:30634313 chr7:30634313 . . 0 21 hm6Am_associated_SNPs_9796 3 Likely benign Peripheral axonal neuropathy RCV000326537.1
402 chr7 30634313 30634313 1 + G A rs148593022 30634313 + 30634293 30634333 41 CTGTGCAAATCTGTTCGCTCGCAACCCTACCTACCTCTCTC CTGTGCAAATCTGTTCGCTCACAACCCTACCTACCTCTCTC Direct Gain 0 0.970614980370979 NA NA prediction 0.941229960741958 Functional Gain - GARS ENSG00000196295 ncRNA_intronic Human processed_transcript chr7:30634313 chr7:30634313 . . 0 21 hm6Am_associated_SNPs_9796 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000362552.1
402 chr22 44319681 44319681 1 + G A rs548897706 44319681 + 44319661 44319701 41 CTGGCCGAGACACTGAGGCAGGGTAGAGAGCGCTTGCGGGC CTGGCCGAGACACTGAGGCAAGGTAGAGAGCGCTTGCGGGC Direct Gain 0 0.970343454202298 NA NA prediction 0.940686908404595 Functional Gain - PNPLA3 ENSG00000100344 UTR5 Human protein_coding chr22:44319681 chr22:44319681 . . 0 21 hm6Am_associated_SNPs_9914 1 Likely benign Susceptibility to Nonalcoholic Fatty Liver Disease RCV000270244.1
402 chr1 65886400 65886400 1 + C T rs189950527 65886400 - 65886380 65886420 41 TAACGCCCGCCATGTCTCCCGAACTGGGGCCGCGGCTGCTT TAACGCCCGCCATGTCTCCCAAACTGGGGCCGCGGCTGCTT Direct Gain 0 0.970289808716991 NA NA prediction 0.940579617433981 Functional Gain - LEPR;LEPROT ENSG00000116678;ENSG00000213625 UTR5 Human other chr1:65886400 chr1:65886400 . . 0 21 hm6Am_associated_SNPs_9936 2 Uncertain significance Monogenic Non-Syndromic Obesity RCV000311543.1
402 chr1 65886400 65886400 1 + C T rs189950527 65886400 - 65886380 65886420 41 TAACGCCCGCCATGTCTCCCGAACTGGGGCCGCGGCTGCTT TAACGCCCGCCATGTCTCCCAAACTGGGGCCGCGGCTGCTT Direct Gain 0 0.970289808716991 NA NA prediction 0.940579617433981 Functional Gain - LEPR;LEPROT ENSG00000116678;ENSG00000213625 UTR5 Human other chr1:65886400 chr1:65886400 . . 0 21 hm6Am_associated_SNPs_9936 2 Uncertain significance Leptin receptor deficiency RCV000350019.1
402 chr15 65369395 65369395 1 + C T rs2919358 65369395 - 65369375 65369415 41 GGAAGGCGGCGCACTCCACGGCCTGCAGCAGCTCGTCCTCC GGAAGGCGGCGCACTCCACGACCTGCAGCAGCTCGTCCTCC Direct Gain 0 0.970274729232702 NA NA prediction 0.940549458465405 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369395 chr15:65369395 nonsynonymous SNV 0.734 0 21 hm6Am_associated_SNPs_9946 2 Benign not specified RCV000117309.2
402 chr15 65369395 65369395 1 + C T rs2919358 65369395 - 65369375 65369415 41 GGAAGGCGGCGCACTCCACGGCCTGCAGCAGCTCGTCCTCC GGAAGGCGGCGCACTCCACGACCTGCAGCAGCTCGTCCTCC Direct Gain 0 0.970274729232702 NA NA prediction 0.940549458465405 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369395 chr15:65369395 nonsynonymous SNV 0.734 0 21 hm6Am_associated_SNPs_9946 2 Benign Nemaline Myopathy, Dominant RCV000368854.1
402 chr1 8021807 8021807 1 + C T rs11121064 8021807 - 8021787 8021827 41 CGCGGCGCCCCGGCCCGTTGGGTACCACTCACCCCACACCA CGCGGCGCCCCGGCCCGTTGAGTACCACTCACCCCACACCA Direct Gain 0 0.970244296356776 NA NA prediction 0.940488592713553 Functional Gain - PARK7 ENSG00000116288 UTR5 Human protein_coding chr1:8021807 chr1:8021807 . . 0 21 hm6Am_associated_SNPs_9963 1 Likely benign Parkinson Disease, Recessive RCV000347071.1
402 chr9 71650692 71650692 1 + G A rs145006100 71650692 + 71650672 71650712 41 CGGAGCGGGCGGCAGACCCGGAGCAGCATGTGGACTCTCGG CGGAGCGGGCGGCAGACCCGAAGCAGCATGTGGACTCTCGG Direct Gain 0 0.970141435684666 NA NA prediction 0.940282871369332 Functional Gain - FXN ENSG00000165060 UTR5 Human protein_coding chr9:71650692 chr9:71650692 . . 0 21 hm6Am_associated_SNPs_10007 1 Benign not specified RCV000173069.1
402 chr10 27444130 27444130 1 + G A rs566954562 27444130 + 27444110 27444150 41 CATGAGGAATGATGTCAGTGGGGCCGCGGTCGCCGCCCACG CATGAGGAATGATGTCAGTGAGGCCGCGGTCGCCGCCCACG Direct Gain 0 0.969905185919455 NA NA prediction 0.939810371838909 Functional Gain - MASTL ENSG00000120539;ENSG00000136758 UTR5 Human other chr10:27444130 chr10:27444130 . . 0 21 hm6Am_associated_SNPs_10110 1 Uncertain significance Thrombocytopenia RCV000350832.1
402 chr10 102747363 102747363 1 + G T rs3740484 102747363 - 102747343 102747383 41 AGCCCCAGGTTACCACTTTTCTCTCTCCCACTTCGCCGGCA AGCCCCAGGTTACCACTTTTATCTCTCCCACTTCGCCGGCA Direct Gain 0 0.969828093186033 NA NA prediction 0.939656186372065 Functional Gain - TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747363 chr10:102747363 . . 0 21 hm6Am_associated_SNPs_10138 5 Benign not specified RCV000124045.1
402 chr10 102747363 102747363 1 + G T rs3740484 102747363 - 102747343 102747383 41 AGCCCCAGGTTACCACTTTTCTCTCTCCCACTTCGCCGGCA AGCCCCAGGTTACCACTTTTATCTCTCCCACTTCGCCGGCA Direct Gain 0 0.969828093186033 NA NA prediction 0.939656186372065 Functional Gain - TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747363 chr10:102747363 . . 0 21 hm6Am_associated_SNPs_10138 5 Benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000269417.1
402 chr10 102747363 102747363 1 + G T rs3740484 102747363 - 102747343 102747383 41 AGCCCCAGGTTACCACTTTTCTCTCTCCCACTTCGCCGGCA AGCCCCAGGTTACCACTTTTATCTCTCCCACTTCGCCGGCA Direct Gain 0 0.969828093186033 NA NA prediction 0.939656186372065 Functional Gain - TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747363 chr10:102747363 . . 0 21 hm6Am_associated_SNPs_10138 5 Benign Mitochondrial DNA depletion syndrome RCV000304511.1
402 chr10 102747363 102747363 1 + G T rs3740484 102747363 - 102747343 102747383 41 AGCCCCAGGTTACCACTTTTCTCTCTCCCACTTCGCCGGCA AGCCCCAGGTTACCACTTTTATCTCTCCCACTTCGCCGGCA Direct Gain 0 0.969828093186033 NA NA prediction 0.939656186372065 Functional Gain - TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747363 chr10:102747363 . . 0 21 hm6Am_associated_SNPs_10138 5 Benign Ataxia Neuropathy Spectrum Disorders RCV000326884.1
402 chr10 102747363 102747363 1 + G T rs3740484 102747363 - 102747343 102747383 41 AGCCCCAGGTTACCACTTTTCTCTCTCCCACTTCGCCGGCA AGCCCCAGGTTACCACTTTTATCTCTCCCACTTCGCCGGCA Direct Gain 0 0.969828093186033 NA NA prediction 0.939656186372065 Functional Gain - TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747363 chr10:102747363 . . 0 21 hm6Am_associated_SNPs_10138 5 Benign Spinocerebellar Ataxia, Recessive RCV000361730.1
402 chr10 70748569 70748569 1 + G A rs199849981 70748569 + 70748549 70748589 41 GACTGCAAACATTGAGGAAAGCCAGGCAGTAGAGGCCGCTA GACTGCAAACATTGAGGAAAACCAGGCAGTAGAGGCCGCTA Direct Gain 0 0.969745297764797 NA NA prediction 0.939490595529594 Functional Gain - KIF1BP ENSG00000198954 UTR5 Human protein_coding chr10:70748569 chr10:70748569 . . 0 21 hm6Am_associated_SNPs_10168 1 Likely benign not specified RCV000442692.1
402 chr7 193245 193245 1 + G T rs150401144 193245 - 193225 193265 41 CGCGCAGGCCACCAGGAACACCATCAGGATGAGCACGCGGA CGCGCAGGCCACCAGGAACAACATCAGGATGAGCACGCGGA Direct Gain 0 0.969651975504486 NA NA prediction 0.939303951008973 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:193245 chr7:193245 nonsynonymous SNV 0.945 1 21 hm6Am_associated_SNPs_10215 2 Benign not specified RCV000173495.1
402 chr7 193245 193245 1 + G T rs150401144 193245 - 193225 193265 41 CGCGCAGGCCACCAGGAACACCATCAGGATGAGCACGCGGA CGCGCAGGCCACCAGGAACAACATCAGGATGAGCACGCGGA Direct Gain 0 0.969651975504486 NA NA prediction 0.939303951008973 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:193245 chr7:193245 nonsynonymous SNV 0.945 1 21 hm6Am_associated_SNPs_10215 2 Benign not provided RCV000224610.1
402 chr19 50804977 50804977 1 + C T rs12610591 50804977 - 50804957 50804997 41 CGTTCCAGCTGCTGCCGCCCGCTCTCTGCCTTGGCTGAGAA CGTTCCAGCTGCTGCCGCCCACTCTCTGCCTTGGCTGAGAA Direct Gain 0 0.969645958079492 NA NA prediction 0.939291916158984 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50804977 chr19:50804977 synonymous SNV . 0 21 hm6Am_associated_SNPs_10217 2 Benign not specified RCV000216542.1
402 chr19 50804977 50804977 1 + C T rs12610591 50804977 - 50804957 50804997 41 CGTTCCAGCTGCTGCCGCCCGCTCTCTGCCTTGGCTGAGAA CGTTCCAGCTGCTGCCGCCCACTCTCTGCCTTGGCTGAGAA Direct Gain 0 0.969645958079492 NA NA prediction 0.939291916158984 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50804977 chr19:50804977 synonymous SNV . 0 21 hm6Am_associated_SNPs_10217 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000373366.1
402 chr10 112327501 112327501 1 + C A rs376252081 112327501 + 112327481 112327521 41 TGGGGGAGGGGTCGCGTAGGCGCCTCACCTGACCCTGCGGC TGGGGGAGGGGTCGCGTAGGAGCCTCACCTGACCCTGCGGC Direct Gain 0 0.969632799441425 NA NA prediction 0.939265598882851 Functional Gain - SMC3 ENSG00000108055 UTR5 Human protein_coding chr10:112327501 chr10:112327501 . . 0 21 hm6Am_associated_SNPs_10223 1 Likely benign Cornelia de Lange Syndrome RCV000357941.1
402 chr19 853278 853278 1 + C T COAD 853278 - 853258 853298 41 ATGGGCTCCCAGGACCACCCGCACCGCGCGGACGTTTCTGC ATGGGCTCCCAGGACCACCCACACCGCGCGGACGTTTCTGC Direct Gain 0 0.969408855741965 NA NA prediction 0.93881771148393 Functional Gain - ELANE ENSG00000197561 CDS Human protein_coding chr19:853278 chr19:853278 nonsynonymous SNV 0.002 3 21 hm6Am_associated_SNPs_10312 1 Uncertain significance not specified RCV000493843.1
402 chr20 47538333 47538333 1 + C T rs2273101 47538333 - 47538313 47538353 41 CCGGCGTCCCGGCCGGCACCGGCCGCGTCCGTCCGCGCCGC CCGGCGTCCCGGCCGGCACCAGCCGCGTCCGTCCGCGCCGC Direct Gain 0 0.969396968991359 NA NA prediction 0.938793937982717 Functional Gain - ARFGEF2 ENSG00000124198 upstream Human protein_coding chr20:47538333 chr20:47538333 . . 0 21 hm6Am_associated_SNPs_10321 1 Likely benign Periventricular Heterotopia RCV000303102.1
402 chr17 18030426 18030426 1 + C T rs146245515 18030426 - 18030406 18030446 41 GGCCAGGTAGCGCAGAATCAGCTTGGTGGCCTCAGTTTTGC GGCCAGGTAGCGCAGAATCAACTTGGTGGCCTCAGTTTTGC Direct Gain 0 0.969183633362421 NA NA prediction 0.938367266724843 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18030426 chr17:18030426 synonymous SNV . 0 21 hm6Am_associated_SNPs_10396 1 Likely benign not specified RCV000038968.3
402 chr2 203241529 203241529 1 + G A rs115604088 203241529 + 203241509 203241549 41 CCTACCTCTCCTCAGCCTTCGCCAGGGCCTCCCCAACCCTC CCTACCTCTCCTCAGCCTTCACCAGGGCCTCCCCAACCCTC Direct Gain 0 0.969041661779928 NA NA prediction 0.938083323559856 Functional Gain - BMPR2 ENSG00000204217 upstream Human protein_coding chr2:203241529 chr2:203241529 . . 0 21 hm6Am_associated_SNPs_10455 1 other Primary pulmonary hypertension RCV000383967.1
402 chr14 89291027 89291027 1 + G A rs7145692 89291027 + 89291007 89291047 41 CCTCTCTCCTGGAGCGCTGGGCCTTCGCTGGCCGCACCGGC CCTCTCTCCTGGAGCGCTGGACCTTCGCTGGCCGCACCGGC Direct Gain 0 0.969020999184632 NA NA prediction 0.938041998369263 Functional Gain - TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291027 chr14:89291027 . . 0 21 hm6Am_associated_SNPs_10462 3 Likely benign not specified RCV000244627.1
402 chr14 89291027 89291027 1 + G A rs7145692 89291027 + 89291007 89291047 41 CCTCTCTCCTGGAGCGCTGGGCCTTCGCTGGCCGCACCGGC CCTCTCTCCTGGAGCGCTGGACCTTCGCTGGCCGCACCGGC Direct Gain 0 0.969020999184632 NA NA prediction 0.938041998369263 Functional Gain - TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291027 chr14:89291027 . . 0 21 hm6Am_associated_SNPs_10462 3 Uncertain significance Bardet-Biedl syndrome RCV000270079.1
402 chr14 89291027 89291027 1 + G A rs7145692 89291027 + 89291007 89291047 41 CCTCTCTCCTGGAGCGCTGGGCCTTCGCTGGCCGCACCGGC CCTCTCTCCTGGAGCGCTGGACCTTCGCTGGCCGCACCGGC Direct Gain 0 0.969020999184632 NA NA prediction 0.938041998369263 Functional Gain - TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291027 chr14:89291027 . . 0 21 hm6Am_associated_SNPs_10462 3 Uncertain significance Retinitis Pigmentosa, Recessive RCV000362261.1
402 chr3 39424924 39424924 1 + G A rs142441701 39424924 + 39424904 39424944 41 TCATCTCCTACGGTGCTGAAGCCTGCAGCAGGGCAGGATGG TCATCTCCTACGGTGCTGAAACCTGCAGCAGGGCAGGATGG Direct Gain 0 0.968811242039997 NA NA prediction 0.937622484079994 Functional Gain - SLC25A38 ENSG00000144659 UTR5 Human protein_coding chr3:39424924 chr3:39424924 . . 0 21 hm6Am_associated_SNPs_10552 2 Uncertain significance Hereditary sideroblastic anemia RCV000321473.1
402 chr3 39424924 39424924 1 + G A rs142441701 39424924 + 39424904 39424944 41 TCATCTCCTACGGTGCTGAAGCCTGCAGCAGGGCAGGATGG TCATCTCCTACGGTGCTGAAACCTGCAGCAGGGCAGGATGG Direct Gain 0 0.968811242039997 NA NA prediction 0.937622484079994 Functional Gain - SLC25A38 ENSG00000144659 UTR5 Human protein_coding chr3:39424924 chr3:39424924 . . 0 21 hm6Am_associated_SNPs_10552 2 Uncertain significance Refractory anemia with ringed sideroblasts (clinical) RCV000376142.1
402 chr9 136524000 136524000 1 + C T rs551208345 136524000 - 136523980 136524020 41 GAAATGTTTAAGCGGCACCCGCACCCGCTGCACACCGGGAG GAAATGTTTAAGCGGCACCCACACCCGCTGCACACCGGGAG Direct Gain 0 0.968734951838135 NA NA prediction 0.93746990367627 Functional Gain - DBH ENSG00000123454 UTR3 Human protein_coding chr9:136524000 chr9:136524000 . . 0 21 hm6Am_associated_SNPs_10596 1 Uncertain significance Dopamine beta hydroxylase deficiency RCV000326664.1
402 chr19 41133653 41133653 1 + C T rs115718556 41133653 - 41133633 41133673 41 GTGCAGCCGTCCAGGATCCCGCACTCCTCCGCCTCCAGCTC GTGCAGCCGTCCAGGATCCCACACTCCTCCGCCTCCAGCTC Direct Gain 0 0.968716680966048 NA NA prediction 0.937433361932095 Functional Gain - LTBP4 ENSG00000090006 CDS Human protein_coding chr19:41133653 chr19:41133653 synonymous SNV . 0 21 hm6Am_associated_SNPs_10605 1 Likely benign not specified RCV000438853.1
402 chr10 73464824 73464824 1 + C T STAD 73464824 - 73464804 73464844 41 TGCATCACTGGCCACCACCCGCAGCTGGTACTCCGCGATGC TGCATCACTGGCCACCACCCACAGCTGGTACTCCGCGATGC Direct Gain 0 0.968677173082619 NA NA prediction 0.937354346165238 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73464824 chr10:73464824 nonsynonymous SNV 0.998 3 21 hm6Am_associated_SNPs_10624 1 Uncertain significance not specified RCV000377715.1
402 chr17 7125311 7125311 1 + C T rs144255994 7125311 - 7125291 7125331 41 ATGGAGGCTGCATCTGACCCGCTTGAGGGCTCGGTTAGACA ATGGAGGCTGCATCTGACCCACTTGAGGGCTCGGTTAGACA Direct Gain 0 0.968674317339195 NA NA prediction 0.93734863467839 Functional Gain - ACADVL ENSG00000072778 CDS Human protein_coding chr17:7125311 chr17:7125311 synonymous SNV . 0 21 hm6Am_associated_SNPs_10626 1 Likely benign not specified RCV000436775.1
402 chrX 152960290 152960290 1 + C T UCS 152960290 - 152960270 152960310 41 CCCAGGAGGTGCAGCGGCACGCACAGCATGGAGGACAGGGC CCCAGGAGGTGCAGCGGCACACACAGCATGGAGGACAGGGC Direct Gain 0 0.968649584876627 NA NA prediction 0.937299169753254 Functional Gain - SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152960290 chrX:152960290 synonymous SNV . 0 21 hm6Am_associated_SNPs_10635 1 Benign Creatine deficiency, X-linked RCV000465469.1
402 chr11 68671393 68671393 1 + C A rs117368938 68671393 + 68671373 68671413 41 GCGCAGAAGCGGGACGTCGGCTTCTAGGGGCCCAGGCCGGC GCGCAGAAGCGGGACGTCGGATTCTAGGGGCCCAGGCCGGC Direct Gain 0 0.9685847804026 NA NA prediction 0.9371695608052 Functional Gain - IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671393 chr11:68671393 . . 0 21 hm6Am_associated_SNPs_10659 2 Likely benign Spinal muscular atrophy RCV000383947.1
402 chr11 68671393 68671393 1 + C A rs117368938 68671393 + 68671373 68671413 41 GCGCAGAAGCGGGACGTCGGCTTCTAGGGGCCCAGGCCGGC GCGCAGAAGCGGGACGTCGGATTCTAGGGGCCCAGGCCGGC Direct Gain 0 0.9685847804026 NA NA prediction 0.9371695608052 Functional Gain - IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671393 chr11:68671393 . . 0 21 hm6Am_associated_SNPs_10659 2 Benign not specified RCV000437926.1
402 chr14 31494988 31494988 1 + G A rs78648016 31494988 + 31494968 31495008 41 GGACCATCACAACCTGAGCAGCACAGGTAGGTTCCGCTCGG GGACCATCACAACCTGAGCAACACAGGTAGGTTCCGCTCGG Direct Gain 0 0.968500519509067 NA NA prediction 0.937001039018135 Functional Gain - AP4S1 ENSG00000100478 UTR5 Human protein_coding chr14:31494988 chr14:31494988 . . 0 21 hm6Am_associated_SNPs_10692 1 Benign not specified RCV000443961.1
402 chr18 42532866 42532866 1 + C T UCEC 42532866 - 42532846 42532886 41 TCTGCGCTACTCAGCCGCTCGCTCAGGATGTGGCTGGAGAA TCTGCGCTACTCAGCCGCTCACTCAGGATGTGGCTGGAGAA Direct Gain 0 0.968464505658827 NA NA prediction 0.936929011317653 Functional Gain - SETBP1 ENSG00000152217 CDS Human protein_coding chr18:42532866 chr18:42532866 synonymous SNV . 0 21 hm6Am_associated_SNPs_10708 1 Uncertain significance Schinzel-Giedion syndrome RCV000365507.1
402 chr1 116234707 116234707 1 + C T rs562969850 116234707 - 116234687 116234727 41 AGCCAGGTGGGGGCAGGATGGCATGGAGGCCAGGTGGGCAG AGCCAGGTGGGGGCAGGATGACATGGAGGCCAGGTGGGCAG Direct Gain 0 0.968406333489054 NA NA prediction 0.936812666978107 Functional Gain - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234707 chr1:116234707 . . 0 21 hm6Am_associated_SNPs_10740 2 Likely benign Caudal dysgenesis syndrome RCV000278992.1
402 chr1 116234707 116234707 1 + C T rs562969850 116234707 - 116234687 116234727 41 AGCCAGGTGGGGGCAGGATGGCATGGAGGCCAGGTGGGCAG AGCCAGGTGGGGGCAGGATGACATGGAGGCCAGGTGGGCAG Direct Gain 0 0.968406333489054 NA NA prediction 0.936812666978107 Functional Gain - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234707 chr1:116234707 . . 0 21 hm6Am_associated_SNPs_10740 2 Likely benign Neural tube defect RCV000352714.1
402 chr20 44520312 44520312 1 + C T rs150140984 44520312 - 44520292 44520332 41 GCCAGCCCGGGGAGGCGCTGGATCTCGTCCTGGTCGGGGGC GCCAGCCCGGGGAGGCGCTGAATCTCGTCCTGGTCGGGGGC Direct Gain 0 0.968313666549293 NA NA prediction 0.936627333098585 Functional Gain - CTSA ENSG00000064601 CDS Human protein_coding chr20:44520312 chr20:44520312 synonymous SNV . 0 21 hm6Am_associated_SNPs_10789 1 Uncertain significance Combined deficiency of sialidase AND beta galactosidase RCV000387873.1
402 chr12 108956449 108956449 1 + G A rs112552261 108956449 + 108956429 108956469 41 CGGGCGGCATCGGCTCTGCTGCTGCGGAGCCCCCGCCTGCC CGGGCGGCATCGGCTCTGCTACTGCGGAGCCCCCGCCTGCC Direct Gain 0 0.968272864614386 NA NA prediction 0.936545729228772 Functional Gain - ISCU ENSG00000136003 CDS Human protein_coding chr12:108956449 chr12:108956449 synonymous SNV . 0 21 hm6Am_associated_SNPs_10804 1 Benign not specified RCV000198723.1
402 chr1 201252745 201252745 1 + C A rs117651274 201252745 + 201252725 201252765 41 CGCTGAGAGCGAGAAGAGCACGCTCCTGCCCGCCCGCTGCA CGCTGAGAGCGAGAAGAGCAAGCTCCTGCCCGCCCGCTGCA Direct Gain 0 0.968256275911671 NA NA prediction 0.936512551823342 Functional Gain - PKP1 ENSG00000081277 UTR5 Human protein_coding chr1:201252745 chr1:201252745 . . 0 21 hm6Am_associated_SNPs_10811 1 Uncertain significance Ectodermal dysplasia skin fragility syndrome RCV000394595.1
402 chr11 62186530 62186530 1 + G A rs41364547 62186530 + 62186510 62186550 41 AGCCCACCAGACTCAGAGACGGAACCAGAGACGGGCCAGAG AGCCCACCAGACTCAGAGACAGAACCAGAGACGGGCCAGAG Direct Gain 0 0.968193694567921 NA NA prediction 0.936387389135843 Functional Gain - SCGB1A1 ENSG00000149021 UTR5 Human protein_coding chr11:62186530 chr11:62186530 . . 0 21 hm6Am_associated_SNPs_10841 1 Uncertain significance Asthma, susceptibility to RCV000013040.3
402 chr1 985377 985377 1 + C T rs113020870 985377 - 985357 985397 41 TCACGCCCCAGGGGGCACTCGCACTGAGCACCACCCTCGGG TCACGCCCCAGGGGGCACTCACACTGAGCACCACCCTCGGG Direct Gain 0 0.968142293163341 NA NA prediction 0.936284586326682 Functional Gain - AGRN ENSG00000188157 CDS Human protein_coding chr1:985377 chr1:985377 synonymous SNV . 0 21 hm6Am_associated_SNPs_10868 1 Likely benign not specified RCV000254107.1
402 chr1 33283287 33283287 1 + G A rs115959445 33283287 + 33283267 33283307 41 CAGGCTTTGGCCCGGCTTCCGGAGGTGAAGAGCGGGAGGGA CAGGCTTTGGCCCGGCTTCCAGAGGTGAAGAGCGGGAGGGA Direct Gain 0 0.967897001059118 NA NA prediction 0.935794002118236 Functional Gain - S100PBP;YARS ENSG00000116497;ENSG00000134684 UTR5 Human other chr1:33283287 chr1:33283287 . . 0 21 hm6Am_associated_SNPs_10969 1 Likely benign Charcot-Marie-Tooth, Intermediate RCV000268821.1
402 chr17 72308199 72308199 1 + C T UCEC 72308199 - 72308179 72308219 41 CTTACCCTTCTCCTTCAGCCGCATCTCCCGGTGCCTGGCCT CTTACCCTTCTCCTTCAGCCACATCTCCCGGTGCCTGGCCT Direct Gain 0 0.96783587261175 NA NA prediction 0.935671745223499 Functional Gain - DNAI2 ENSG00000171595 CDS Human protein_coding chr17:72308199 chr17:72308199 nonsynonymous SNV 0.998 4 21 hm6Am_associated_SNPs_10997 1 Uncertain significance Primary ciliary dyskinesia RCV000368299.1
402 chr4 114277028 114277028 1 + C T rs369910938 114277028 - 114277008 114277048 41 GCCACAGCGCTGAGGACTTCGCTATCTCGGCTAGGGAGTGC GCCACAGCGCTGAGGACTTCACTATCTCGGCTAGGGAGTGC Direct Gain 0 0.967776505329058 NA NA prediction 0.935553010658117 Functional Gain - ANK2 ENSG00000145362 CDS Human protein_coding chr4:114277028 chr4:114277028 synonymous SNV . 0 21 hm6Am_associated_SNPs_11023 1 Likely benign Long QT syndrome RCV000457317.1
402 chr17 13972814 13972814 1 + G A rs28680987 13972814 + 13972794 13972834 41 CCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGG CCCGCCCGCCGGAAGTGGCGACCCGGAACTACTCCCACAGG Direct Gain 0 0.967720229823606 NA NA prediction 0.935440459647212 Functional Gain - COX10 ENSG00000006695 UTR5 Human protein_coding chr17:13972814 chr17:13972814 . . 0 21 hm6Am_associated_SNPs_11045 2 Likely benign Cytochrome-c oxidase deficiency RCV000301058.1
402 chr17 13972814 13972814 1 + G A rs28680987 13972814 + 13972794 13972834 41 CCCGCCCGCCGGAAGTGGCGGCCCGGAACTACTCCCACAGG CCCGCCCGCCGGAAGTGGCGACCCGGAACTACTCCCACAGG Direct Gain 0 0.967720229823606 NA NA prediction 0.935440459647212 Functional Gain - COX10 ENSG00000006695 UTR5 Human protein_coding chr17:13972814 chr17:13972814 . . 0 21 hm6Am_associated_SNPs_11045 2 Likely benign Leigh syndrome RCV000367476.1
402 chr16 90001561 90001561 1 + C T rs147245174 90001561 - 90001541 90001581 41 CGCAAGGAGGTGGTGACTCCGCTCATGGTGGCCGATACCAG CGCAAGGAGGTGGTGACTCCACTCATGGTGGCCGATACCAG Direct Gain 0 0.967698996529277 NA NA prediction 0.935397993058553 Functional Gain - TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90001561 chr16:90001561 synonymous SNV . 0 21 hm6Am_associated_SNPs_11049 1 other not specified RCV000147855.2
402 chr10 43615013 43615013 1 + C T rs577929869 43615013 - 43614993 43615033 41 AGGAAGCCCCGCAGGGAGCCGTATTTGGCGTACTCCACGAT AGGAAGCCCCGCAGGGAGCCATATTTGGCGTACTCCACGAT Direct Gain 0 0.967666265732056 NA NA prediction 0.935332531464113 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43615013 chr10:43615013 synonymous SNV . 0 21 hm6Am_associated_SNPs_11059 1 Benign Multiple endocrine neoplasia, type 2 RCV000233277.2
402 chr9 87570373 87570373 1 + C T rs75380746 87570373 - 87570353 87570393 41 AAAGTCCCCGATTTTCACCAGCAAGTTCTCCCCGACCAGGC AAAGTCCCCGATTTTCACCAACAAGTTCTCCCCGACCAGGC Direct Gain 0 0.967607588918266 NA NA prediction 0.935215177836532 Functional Gain - NTRK2 ENSG00000148053 CDS Human protein_coding chr9:87570373 chr9:87570373 synonymous SNV . 0 21 hm6Am_associated_SNPs_11089 1 Benign not specified RCV000356508.1
402 chr14 20937588 20937588 1 + G A rs17881206 20937588 + 20937568 20937608 41 TGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTCAGCATAG TGTGCGAACCAGACCCGGCAACCTTGCTCAGTTCAGCATAG Direct Gain 0 0.967439492158256 NA NA prediction 0.934878984316513 Functional Gain - PNP ENSG00000198805 UTR5 Human protein_coding chr14:20937588 chr14:20937588 . . 0 21 hm6Am_associated_SNPs_11169 1 Uncertain significance Purine-nucleoside phosphorylase deficiency RCV000291266.1
402 chr21 47424229 47424229 1 + G T rs538359005 47424229 - 47424209 47424249 41 GGCCAGCTCAGGGCTGAGCCCCAGAGGGCCCTGCACAGGTG GGCCAGCTCAGGGCTGAGCCACAGAGGGCCCTGCACAGGTG Direct Gain 0 0.967278369910641 NA NA prediction 0.934556739821282 Functional Gain - COL6A1 ENSG00000142156 UTR3 Human protein_coding chr21:47424229 chr21:47424229 . . 0 21 hm6Am_associated_SNPs_11253 1 Likely benign Collagen VI-related myopathy RCV000373543.1
402 chr9 100840478 100840478 1 + G A rs140402727 100840478 + 100840458 100840498 41 GGTGCTGGATTACTCAGGTCGCCCAATGGTGATCTCCAGTG GGTGCTGGATTACTCAGGTCACCCAATGGTGATCTCCAGTG Direct Gain 0 0.967277219674894 NA NA prediction 0.934554439349788 Functional Gain - NANS ENSG00000095380 CDS Human protein_coding chr9:100840478 chr9:100840478 nonsynonymous SNV 0.940 1 21 hm6Am_associated_SNPs_11256 1 Pathogenic Spondyloepimetaphyseal dysplasia Genevieve type RCV000224301.2
402 chr17 26861804 26861804 1 + C T rs116778145 26861804 - 26861784 26861824 41 GGCCGGATGGGGCCTGAGCCGGACAGCCCAGGGGGCGGACA GGCCGGATGGGGCCTGAGCCAGACAGCCCAGGGGGCGGACA Direct Gain 0 0.967246407195485 NA NA prediction 0.934492814390969 Functional Gain - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26861804 chr17:26861804 synonymous SNV . 0 21 hm6Am_associated_SNPs_11270 1 Likely benign not specified RCV000420167.1
402 chr7 33944686 33944686 1 + G A rs112890951 33944686 + 33944666 33944706 41 CGGGTTCCGGGAGGCGCCCGGTGAGCCCACGTCTGTTGCGG CGGGTTCCGGGAGGCGCCCGATGAGCCCACGTCTGTTGCGG Direct Gain 0 0.967045919529909 NA NA prediction 0.934091839059817 Functional Gain - BMPER ENSG00000164619 UTR5 Human protein_coding chr7:33944686 chr7:33944686 . . 0 21 hm6Am_associated_SNPs_11355 1 Likely benign Diaphanospondylodysostosis RCV000296299.1
402 chr12 52200847 52200847 1 + C T rs185667241 52200847 - 52200827 52200867 41 CGCAGGATGTCCAACTCCCCGCTATCTCCCAGGACCCGCTT CGCAGGATGTCCAACTCCCCACTATCTCCCAGGACCCGCTT Direct Gain 0 0.967007228524061 NA NA prediction 0.934014457048123 Functional Gain - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52200847 chr12:52200847 synonymous SNV . 0 21 hm6Am_associated_SNPs_11371 1 other not specified RCV000362479.2
402 chr16 4382271 4382271 1 + G A rs28449480 4382271 + 4382251 4382291 41 TGCTGCCACCTCCAACTCCGGCCCCCTCACCATGCACTCCC TGCTGCCACCTCCAACTCCGACCCCCTCACCATGCACTCCC Direct Gain 0 0.966679276768845 NA NA prediction 0.93335855353769 Functional Gain - GLIS2 ENSG00000126603 UTR5 Human protein_coding chr16:4382271 chr16:4382271 . . 0 21 hm6Am_associated_SNPs_11516 2 Benign not specified RCV000250455.1
402 chr16 4382271 4382271 1 + G A rs28449480 4382271 + 4382251 4382291 41 TGCTGCCACCTCCAACTCCGGCCCCCTCACCATGCACTCCC TGCTGCCACCTCCAACTCCGACCCCCTCACCATGCACTCCC Direct Gain 0 0.966679276768845 NA NA prediction 0.93335855353769 Functional Gain - GLIS2 ENSG00000126603 UTR5 Human protein_coding chr16:4382271 chr16:4382271 . . 0 21 hm6Am_associated_SNPs_11516 2 Likely benign Nephronophthisis RCV000356057.1
402 chr17 59557580 59557580 1 + C T UCEC 59557580 - 59557560 59557600 41 GCGAGCTGTGAGTGTGCCCCGTTCTCGTGCTGGTAGTGCTG GCGAGCTGTGAGTGTGCCCCATTCTCGTGCTGGTAGTGCTG Direct Gain 0 0.966424402727895 NA NA prediction 0.93284880545579 Functional Gain - TBX4 ENSG00000121075 CDS Human protein_coding chr17:59557580 chr17:59557580 synonymous SNV . 0 21 hm6Am_associated_SNPs_11616 1 Likely benign Ischiopatellar dysplasia RCV000360546.1
402 chr1 150529772 150529772 1 + C T UCEC 150529772 - 150529752 150529792 41 GCATGCAGAGTGTCCCACTCGTTTCCAGTACGCAGCTGGAG GCATGCAGAGTGTCCCACTCATTTCCAGTACGCAGCTGGAG Direct Gain 0 0.966094228323727 NA NA prediction 0.932188456647454 Functional Gain - ADAMTSL4 ENSG00000143382 CDS Human protein_coding chr1:150529772 chr1:150529772 stopgain 0.988 0 21 hm6Am_associated_SNPs_11742 1 Pathogenic Ectopia lentis, isolated autosomal recessive RCV000032757.2
402 chr5 131705723 131705723 1 + T A rs144020613 131705723 + 131705703 131705743 41 GTGGGGGCCCTTCCAGCGCCTCATCTTCTTCCTGCTCAGCG GTGGGGGCCCTTCCAGCGCCACATCTTCTTCCTGCTCAGCG Direct Gain 0 0.966073100278712 NA NA prediction 0.932146200557425 Functional Gain - SLC22A5 ENSG00000197375 CDS Human protein_coding chr5:131705723 chr5:131705723 nonsynonymous SNV 1.000 2 21 hm6Am_associated_SNPs_11748 1 not provided Renal carnitine transport defect RCV000022299.2
402 chr13 32889682 32889682 1 + G A rs567110692 32889682 + 32889662 32889702 41 GGCACTGCTGCGCCTCTGCTGCGCCTCGGGTGTCTTTTGCG GGCACTGCTGCGCCTCTGCTACGCCTCGGGTGTCTTTTGCG Direct Gain 0 0.966055668168503 NA NA prediction 0.932111336337005 Functional Gain - BRCA2 ENSG00000139618 UTR5 Human protein_coding chr13:32889682 chr13:32889682 . . 0 21 hm6Am_associated_SNPs_11759 1 Benign Breast-ovarian cancer, familial 2 RCV000254931.1
402 chr6 80816473 80816473 1 + G T rs368345065 80816473 - 80816453 80816493 41 CCAGGAAGCCGACGCCAGTGCCCCTCAGCCCCTGCCGCCCT CCAGGAAGCCGACGCCAGTGACCCTCAGCCCCTGCCGCCCT Direct Gain 0 0.96605410697106 NA NA prediction 0.93210821394212 Functional Gain - BCKDHB ENSG00000083123 CDS Human protein_coding chr6:80816473 chr6:80816473 synonymous SNV . 0 21 hm6Am_associated_SNPs_11762 1 Uncertain significance Maple syrup urine disease RCV000385257.1
402 chr9 140002828 140002828 1 + G A rs76740252 140002828 + 140002808 140002848 41 CGTGTGGTGACGAGGCCCTGGCTGCTGCACAGGTCCCCTCG CGTGTGGTGACGAGGCCCTGACTGCTGCACAGGTCCCCTCG Direct Gain 0 0.965979201226874 NA NA prediction 0.931958402453749 Functional Gain - MAN1B1 ENSG00000177239 intronic Human protein_coding chr9:140002828 chr9:140002828 . . 0 21 hm6Am_associated_SNPs_11801 1 Uncertain significance Intellectual Disability, Recessive RCV000310106.1
402 chr10 112327476 112327476 1 + C A rs148267784 112327476 + 112327456 112327496 41 TGGCTGAGGGGAGCGAGCGGCGCTTTGGGGGAGGGGTCGCG TGGCTGAGGGGAGCGAGCGGAGCTTTGGGGGAGGGGTCGCG Direct Gain 0 0.965921134894145 NA NA prediction 0.93184226978829 Functional Gain - SMC3 ENSG00000108055 UTR5 Human protein_coding chr10:112327476 chr10:112327476 . . 0 21 hm6Am_associated_SNPs_11826 1 Likely benign Cornelia de Lange Syndrome RCV000407357.1
402 chr17 18024352 18024352 1 + G T rs79760961 18024352 - 18024332 18024372 41 GCCCCTCTCCGGCGGGAGCCCCTGAACGAGGGTCGGGGCCC GCCCCTCTCCGGCGGGAGCCACTGAACGAGGGTCGGGGCCC Direct Gain 0 0.965768575562803 NA NA prediction 0.931537151125607 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18024352 chr17:18024352 nonsynonymous SNV 0.077 2 21 hm6Am_associated_SNPs_11888 2 Benign not specified RCV000220411.2
402 chr17 18024352 18024352 1 + G T rs79760961 18024352 - 18024332 18024372 41 GCCCCTCTCCGGCGGGAGCCCCTGAACGAGGGTCGGGGCCC GCCCCTCTCCGGCGGGAGCCACTGAACGAGGGTCGGGGCCC Direct Gain 0 0.965768575562803 NA NA prediction 0.931537151125607 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18024352 chr17:18024352 nonsynonymous SNV 0.077 2 21 hm6Am_associated_SNPs_11888 2 Likely benign not provided RCV000428684.1
402 chr17 1665330 1665330 1 + C A rs9913583 1665330 + 1665310 1665350 41 TTAGAAGGCAGCAAAAAAAGCTCTGTGCTGGCTGGAGCCCC TTAGAAGGCAGCAAAAAAAGATCTGTGCTGGCTGGAGCCCC Direct Gain 0 0.96554838661263 NA NA prediction 0.93109677322526 Functional Gain - SERPINF1 ENSG00000132386 UTR5 Human protein_coding chr17:1665330 chr17:1665330 . . 0 21 hm6Am_associated_SNPs_11986 1 Likely benign Osteogenesis Imperfecta, Recessive RCV000365793.1
402 chr14 60977955 60977955 1 + C T COAD 60977955 - 60977935 60977975 41 GCAACTCAGATGTCGCACTCGCTGTCGCTGGACGTGATGGA GCAACTCAGATGTCGCACTCACTGTCGCTGGACGTGATGGA Direct Gain 0 0.965528597093276 NA NA prediction 0.931057194186552 Functional Gain - SIX6 ENSG00000184302 CDS Human protein_coding chr14:60977955 chr14:60977955 synonymous SNV . 0 21 hm6Am_associated_SNPs_11993 1 Uncertain significance Anophthalmia - microphthalmia RCV000287167.1
402 chr11 20622730 20622730 1 + C T HNSC 20622730 - 20622710 20622750 41 CCGGGTGGCCCTGCGCCGCCGCCGCCTCCGGGCTGTTGGCT CCGGGTGGCCCTGCGCCGCCACCGCCTCCGGGCTGTTGGCT Direct Gain 0 0.965488228593179 NA NA prediction 0.930976457186358 Functional Gain - SLC6A5 ENSG00000165970 CDS Human protein_coding chr11:20622730 chr11:20622730 nonsynonymous SNV 0.936 1 21 hm6Am_associated_SNPs_12014 1 Likely benign Hyperekplexia RCV000382839.1
402 chr12 124155786 124155786 1 + G A rs141768405 124155786 + 124155766 124155806 41 CCCGGCCCGCGAGGTCTAAGGCATGGGCTTCCAGCCTCCGG CCCGGCCCGCGAGGTCTAAGACATGGGCTTCCAGCCTCCGG Direct Gain 0 0.965385884832514 NA NA prediction 0.930771769665028 Functional Gain - TCTN2 ENSG00000168778 UTR5 Human protein_coding chr12:124155786 chr12:124155786 . . 0 21 hm6Am_associated_SNPs_12056 3 Uncertain significance not specified RCV000173530.1
402 chr12 124155786 124155786 1 + G A rs141768405 124155786 + 124155766 124155806 41 CCCGGCCCGCGAGGTCTAAGGCATGGGCTTCCAGCCTCCGG CCCGGCCCGCGAGGTCTAAGACATGGGCTTCCAGCCTCCGG Direct Gain 0 0.965385884832514 NA NA prediction 0.930771769665028 Functional Gain - TCTN2 ENSG00000168778 UTR5 Human protein_coding chr12:124155786 chr12:124155786 . . 0 21 hm6Am_associated_SNPs_12056 3 Benign Joubert syndrome RCV000200728.1
402 chr12 124155786 124155786 1 + G A rs141768405 124155786 + 124155766 124155806 41 CCCGGCCCGCGAGGTCTAAGGCATGGGCTTCCAGCCTCCGG CCCGGCCCGCGAGGTCTAAGACATGGGCTTCCAGCCTCCGG Direct Gain 0 0.965385884832514 NA NA prediction 0.930771769665028 Functional Gain - TCTN2 ENSG00000168778 UTR5 Human protein_coding chr12:124155786 chr12:124155786 . . 0 21 hm6Am_associated_SNPs_12056 3 Benign Meckel-Gruber syndrome RCV000200728.1
402 chr6 137143773 137143773 1 + G A rs115866467 137143773 + 137143753 137143793 41 TCGGAACGGCTTCCGCGGCCGGGGCAGCGAGGGCCGGGGGC TCGGAACGGCTTCCGCGGCCAGGGCAGCGAGGGCCGGGGGC Direct Gain 0 0.965359520465817 NA NA prediction 0.930719040931633 Functional Gain - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143773 chr6:137143773 . . 0 21 hm6Am_associated_SNPs_12073 3 Benign not specified RCV000242739.2
402 chr6 137143773 137143773 1 + G A rs115866467 137143773 + 137143753 137143793 41 TCGGAACGGCTTCCGCGGCCGGGGCAGCGAGGGCCGGGGGC TCGGAACGGCTTCCGCGGCCAGGGCAGCGAGGGCCGGGGGC Direct Gain 0 0.965359520465817 NA NA prediction 0.930719040931633 Functional Gain - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143773 chr6:137143773 . . 0 21 hm6Am_associated_SNPs_12073 3 Likely benign Phytanic acid storage disease RCV000275755.1
402 chr6 137143773 137143773 1 + G A rs115866467 137143773 + 137143753 137143793 41 TCGGAACGGCTTCCGCGGCCGGGGCAGCGAGGGCCGGGGGC TCGGAACGGCTTCCGCGGCCAGGGCAGCGAGGGCCGGGGGC Direct Gain 0 0.965359520465817 NA NA prediction 0.930719040931633 Functional Gain - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143773 chr6:137143773 . . 0 21 hm6Am_associated_SNPs_12073 3 Likely benign Rhizomelic chondrodysplasia punctata RCV000370255.1
402 chr9 103054739 103054739 1 + C T UCEC 103054739 - 103054719 103054759 41 GCCTTTCCCCTTTGCACACCGCTCATCGCCAGCTGTCTCAC GCCTTTCCCCTTTGCACACCACTCATCGCCAGCTGTCTCAC Direct Gain 0 0.965253248835798 NA NA prediction 0.930506497671596 Functional Gain - INVS ENSG00000119509 CDS Human protein_coding chr9:103054739 chr9:103054739 nonsynonymous SNV 0.012 2 21 hm6Am_associated_SNPs_12137 1 Uncertain significance not specified RCV000393475.1
402 chr12 132413815 132413815 1 + C T rs551126678 132413815 - 132413795 132413835 41 GCGACGCGGCTGACTGAGCCGGAGCCGGACCACGTGGGCGA GCGACGCGGCTGACTGAGCCAGAGCCGGACCACGTGGGCGA Direct Gain 0 0.965250629577794 NA NA prediction 0.930501259155589 Functional Gain - PUS1 ENSG00000255992 ncRNA_exonic Human lincRNA chr12:132413815 chr12:132413815 . . 0 21 hm6Am_associated_SNPs_12140 1 Uncertain significance Mitochondrial myopathy and sideroblastic anemia RCV000307185.1
402 chr12 52309891 52309891 1 + C T UCEC 52309891 - 52309871 52309911 41 CACCTCGGGTGCCATGTACCGCTTGGTGCCCACTCTCGGGT CACCTCGGGTGCCATGTACCACTTGGTGCCCACTCTCGGGT Direct Gain 0 0.965155629789231 NA NA prediction 0.930311259578462 Functional Gain - ACVRL1 ENSG00000139567 CDS Human protein_coding chr12:52309891 chr12:52309891 nonsynonymous SNV 0.993 4 21 hm6Am_associated_SNPs_12190 3 Pathogenic Hereditary hemorrhagic telangiectasia type 2 RCV000008733.2
402 chr12 52309891 52309891 1 + C T UCEC 52309891 - 52309871 52309911 41 CACCTCGGGTGCCATGTACCGCTTGGTGCCCACTCTCGGGT CACCTCGGGTGCCATGTACCACTTGGTGCCCACTCTCGGGT Direct Gain 0 0.965155629789231 NA NA prediction 0.930311259578462 Functional Gain - ACVRL1 ENSG00000139567 CDS Human protein_coding chr12:52309891 chr12:52309891 nonsynonymous SNV 0.993 4 21 hm6Am_associated_SNPs_12190 3 Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia RCV000008734.4
402 chr12 52309891 52309891 1 + C T UCEC 52309891 - 52309871 52309911 41 CACCTCGGGTGCCATGTACCGCTTGGTGCCCACTCTCGGGT CACCTCGGGTGCCATGTACCACTTGGTGCCCACTCTCGGGT Direct Gain 0 0.965155629789231 NA NA prediction 0.930311259578462 Functional Gain - ACVRL1 ENSG00000139567 CDS Human protein_coding chr12:52309891 chr12:52309891 nonsynonymous SNV 0.993 4 21 hm6Am_associated_SNPs_12190 3 Pathogenic not provided RCV000330901.1
402 chr19 45206677 45206677 1 + C T rs191552868 45206677 - 45206657 45206697 41 AGCGTGACGTTGTCCCCTTCGCTCGGCTGGGCAGGCTCCAG AGCGTGACGTTGTCCCCTTCACTCGGCTGGGCAGGCTCCAG Direct Gain 0 0.9648480373994 NA NA prediction 0.9296960747988 Functional Gain - CEACAM16 ENSG00000213892 CDS Human protein_coding chr19:45206677 chr19:45206677 synonymous SNV . 0 21 hm6Am_associated_SNPs_12323 1 Benign not specified RCV000213847.1
402 chr4 108910896 108910896 1 + G A rs10017687 108910896 + 108910876 108910916 41 TACCCGCTCAACGCTGGGACGTTACAGCCAGGGCCAATGGG TACCCGCTCAACGCTGGGACATTACAGCCAGGGCCAATGGG Direct Gain 0 0.964804057418831 NA NA prediction 0.929608114837663 Functional Gain - HADH ENSG00000138796 UTR5 Human protein_coding chr4:108910896 chr4:108910896 . . 0 21 hm6Am_associated_SNPs_12346 2 Likely benign Hyperinsulinism, Dominant/Recessive RCV000281233.1
402 chr4 108910896 108910896 1 + G A rs10017687 108910896 + 108910876 108910916 41 TACCCGCTCAACGCTGGGACGTTACAGCCAGGGCCAATGGG TACCCGCTCAACGCTGGGACATTACAGCCAGGGCCAATGGG Direct Gain 0 0.964804057418831 NA NA prediction 0.929608114837663 Functional Gain - HADH ENSG00000138796 UTR5 Human protein_coding chr4:108910896 chr4:108910896 . . 0 21 hm6Am_associated_SNPs_12346 2 Likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase RCV000336235.1
402 chr17 18082146 18082146 1 + C T UCEC 18082146 - 18082126 18082166 41 GCTGGGGGGCAATGTGAGCCGCTTCTCATGGGCACTGAGCA GCTGGGGGGCAATGTGAGCCACTTCTCATGGGCACTGAGCA Direct Gain 0 0.964571523361723 NA NA prediction 0.929143046723446 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18082146 chr17:18082146 nonsynonymous SNV 0.997 4 21 hm6Am_associated_SNPs_12462 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000405492.1
402 chr4 6303849 6303849 1 + A T rs56002719 6303849 - 6303829 6303869 41 ATGGCATGCCCACGGTAATCTCAAACTTGTAGCGGTCGAAC ATGGCATGCCCACGGTAATCACAAACTTGTAGCGGTCGAAC Direct Gain 0 0.964431681355177 NA NA prediction 0.928863362710354 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303849 chr4:6303849 nonsynonymous SNV 0.997 5 21 hm6Am_associated_SNPs_12538 2 other not specified RCV000152695.3
402 chr4 6303849 6303849 1 + A T rs56002719 6303849 - 6303829 6303869 41 ATGGCATGCCCACGGTAATCTCAAACTTGTAGCGGTCGAAC ATGGCATGCCCACGGTAATCACAAACTTGTAGCGGTCGAAC Direct Gain 0 0.964431681355177 NA NA prediction 0.928863362710354 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303849 chr4:6303849 nonsynonymous SNV 0.997 5 21 hm6Am_associated_SNPs_12538 2 Likely benign WFS1-Related Spectrum Disorders RCV000351538.1
402 chr14 96001411 96001411 1 + C T rs554961847 96001411 - 96001391 96001431 41 CTCATCTCCGCACGCAAGCCGGAGCCCACGACGGCCCGGGC CTCATCTCCGCACGCAAGCCAGAGCCCACGACGGCCCGGGC Direct Gain 0 0.964381894858801 NA NA prediction 0.928763789717602 Functional Gain - GLRX5 ENSG00000182512 UTR5 Human protein_coding chr14:96001411 chr14:96001411 . . 0 21 hm6Am_associated_SNPs_12561 1 Likely benign not specified RCV000433574.1
402 chr1 156108353 156108353 1 + C T UCEC 156108353 - 156108333 156108373 41 GCCTTGTCGGCAGGCTGCCCGCAGGTCCCGCACAGCACGGT GCCTTGTCGGCAGGCTGCCCACAGGTCCCGCACAGCACGGT Direct Gain 0 0.964302249324892 NA NA prediction 0.928604498649784 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156108353 chr1:156108353 synonymous SNV . 0 21 hm6Am_associated_SNPs_12596 1 other not specified RCV000041333.2
402 chr15 67358378 67358378 1 + C T rs556470157 67358378 - 67358358 67358398 41 GCCGCGGTCGCCCAAACTTCGCCTCAACTCTCGGCGAAGTT GCCGCGGTCGCCCAAACTTCACCTCAACTCTCGGCGAAGTT Direct Gain 0 0.964220919042001 NA NA prediction 0.928441838084002 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358378 chr15:67358378 . . 0 21 hm6Am_associated_SNPs_12639 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000276717.1
402 chr15 67358378 67358378 1 + C T rs556470157 67358378 - 67358358 67358398 41 GCCGCGGTCGCCCAAACTTCGCCTCAACTCTCGGCGAAGTT GCCGCGGTCGCCCAAACTTCACCTCAACTCTCGGCGAAGTT Direct Gain 0 0.964220919042001 NA NA prediction 0.928441838084002 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358378 chr15:67358378 . . 0 21 hm6Am_associated_SNPs_12639 2 Likely benign Loeys-Dietz syndrome RCV000299183.1
402 chr11 44117285 44117285 1 + G A rs115238130 44117285 + 44117265 44117305 41 TGCTCGCCAGCCCAGACTCGGCCCTGGCAGTGGCGGCTGGC TGCTCGCCAGCCCAGACTCGACCCTGGCAGTGGCGGCTGGC Direct Gain 0 0.964021391413535 NA NA prediction 0.92804278282707 Functional Gain - EXT2 ENSG00000151348 UTR5 Human protein_coding chr11:44117285 chr11:44117285 . . 0 21 hm6Am_associated_SNPs_12740 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000408028.1
402 chr11 111895625 111895625 1 + G A rs183456915 111895625 + 111895605 111895645 41 TCGGATGCGCAGAAGCAGAGGTCACCACGCCGGACCCCTCG TCGGATGCGCAGAAGCAGAGATCACCACGCCGGACCCCTCG Direct Gain 0 0.964007443628695 NA NA prediction 0.928014887257391 Functional Gain - DLAT ENSG00000150768 UTR5 Human protein_coding chr11:111895625 chr11:111895625 . . 0 21 hm6Am_associated_SNPs_12746 1 Uncertain significance Pyruvate dehydrogenase complex deficiency RCV000259447.1
402 chr1 55464835 55464835 1 + C T rs188418228 55464835 - 55464815 55464855 41 GCCTGGCCAGTCCCTGGCCTGCACACCCCCGGGAGAGGGGG GCCTGGCCAGTCCCTGGCCTACACACCCCCGGGAGAGGGGG Direct Gain 0 0.963889595724818 NA NA prediction 0.927779191449636 Functional Gain - BSND ENSG00000162399 UTR5 Human protein_coding chr1:55464835 chr1:55464835 . . 0 21 hm6Am_associated_SNPs_12812 1 Uncertain significance Bartter's syndrome RCV000271461.1
402 chr7 23145608 23145608 1 + G A rs200506606 23145608 + 23145588 23145628 41 AGAGTGCGACCCCTCGCCCGGCCCGGCGAGCCCCGGGCGTG AGAGTGCGACCCCTCGCCCGACCCGGCGAGCCCCGGGCGTG Direct Gain 0 0.963854359617234 NA NA prediction 0.927708719234468 Functional Gain - KLHL7 ENSG00000122550 UTR5 Human protein_coding chr7:23145608 chr7:23145608 . . 0 21 hm6Am_associated_SNPs_12832 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000319613.1
402 chr15 65369242 65369242 1 + G A rs138484272 65369242 + 65369222 65369262 41 CCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCC CCTGCTGGTGGAGCACTGTGACTTCTTCCGAGGCCTCTTCC Direct Gain 0 0.963840546223018 NA NA prediction 0.927681092446036 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369242 chr15:65369242 nonsynonymous SNV 0.996 0 21 hm6Am_associated_SNPs_12838 2 Benign not specified RCV000249562.2
402 chr15 65369242 65369242 1 + G A rs138484272 65369242 + 65369222 65369262 41 CCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCC CCTGCTGGTGGAGCACTGTGACTTCTTCCGAGGCCTCTTCC Direct Gain 0 0.963840546223018 NA NA prediction 0.927681092446036 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369242 chr15:65369242 nonsynonymous SNV 0.996 0 21 hm6Am_associated_SNPs_12838 2 Likely benign Nemaline Myopathy, Dominant RCV000347689.1
402 chr1 150459905 150459905 1 + G A rs201336268 150459905 + 150459885 150459925 41 GCGATAATCTGTTTGAGGATGTAGGCACTGGTGTGAAGGAA GCGATAATCTGTTTGAGGATATAGGCACTGGTGTGAAGGAA Direct Gain 0 0.963820398646859 NA NA prediction 0.927640797293719 Functional Gain - TARS2 ENSG00000143374 UTR5 Human protein_coding chr1:150459905 chr1:150459905 . . 0 21 hm6Am_associated_SNPs_12849 1 Likely benign not specified RCV000419756.1
402 chr9 140130470 140130470 1 + C T STAD 140130470 - 140130450 140130490 41 GGCCAGCGGGATGGGCAGCCGCAGTGCAGGCACCAGGTACC GGCCAGCGGGATGGGCAGCCACAGTGCAGGCACCAGGTACC Direct Gain 0 0.963514221297471 NA NA prediction 0.927028442594941 Functional Gain - SLC34A3 ENSG00000198569 CDS Human protein_coding chr9:140130470 chr9:140130470 nonsynonymous SNV 0.308 4 21 hm6Am_associated_SNPs_12983 1 Pathogenic Autosomal recessive hypophosphatemic bone disease RCV000001497.3
402 chr19 38985101 38985101 1 + C T rs75181912 38985101 - 38985081 38985121 41 AGCAGCTCACCCAGCCCGTCGTACTGCCGGTGCAGGAGGCT AGCAGCTCACCCAGCCCGTCATACTGCCGGTGCAGGAGGCT Direct Gain 0 0.963415648432378 NA NA prediction 0.926831296864757 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38985101 chr19:38985101 synonymous SNV . 0 21 hm6Am_associated_SNPs_13042 5 other not specified RCV000079158.6
402 chr19 38985101 38985101 1 + C T rs75181912 38985101 - 38985081 38985121 41 AGCAGCTCACCCAGCCCGTCGTACTGCCGGTGCAGGAGGCT AGCAGCTCACCCAGCCCGTCATACTGCCGGTGCAGGAGGCT Direct Gain 0 0.963415648432378 NA NA prediction 0.926831296864757 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38985101 chr19:38985101 synonymous SNV . 0 21 hm6Am_associated_SNPs_13042 5 Likely benign Central core disease RCV000269437.1
402 chr19 38985101 38985101 1 + C T rs75181912 38985101 - 38985081 38985121 41 AGCAGCTCACCCAGCCCGTCGTACTGCCGGTGCAGGAGGCT AGCAGCTCACCCAGCCCGTCATACTGCCGGTGCAGGAGGCT Direct Gain 0 0.963415648432378 NA NA prediction 0.926831296864757 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38985101 chr19:38985101 synonymous SNV . 0 21 hm6Am_associated_SNPs_13042 5 Likely benign Neuromuscular disease, congenital, with uniform type 1 fiber RCV000309361.1
402 chr19 38985101 38985101 1 + C T rs75181912 38985101 - 38985081 38985121 41 AGCAGCTCACCCAGCCCGTCGTACTGCCGGTGCAGGAGGCT AGCAGCTCACCCAGCCCGTCATACTGCCGGTGCAGGAGGCT Direct Gain 0 0.963415648432378 NA NA prediction 0.926831296864757 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38985101 chr19:38985101 synonymous SNV . 0 21 hm6Am_associated_SNPs_13042 5 Likely benign Multiminicore Disease RCV000334038.1
402 chr19 38985101 38985101 1 + C T rs75181912 38985101 - 38985081 38985121 41 AGCAGCTCACCCAGCCCGTCGTACTGCCGGTGCAGGAGGCT AGCAGCTCACCCAGCCCGTCATACTGCCGGTGCAGGAGGCT Direct Gain 0 0.963415648432378 NA NA prediction 0.926831296864757 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38985101 chr19:38985101 synonymous SNV . 0 21 hm6Am_associated_SNPs_13042 5 Likely benign Malignant hyperthermia susceptibility RCV000364035.1
402 chr1 33283128 33283128 1 + C T rs113748028 33283128 - 33283108 33283148 41 AGGAAACCGTCCCGCCTCTAGGAGGGTTGTGCCCCGCTCAG AGGAAACCGTCCCGCCTCTAAGAGGGTTGTGCCCCGCTCAG Direct Gain 0 0.963261957437399 NA NA prediction 0.926523914874798 Functional Gain - S100PBP;YARS ENSG00000116497;ENSG00000134684 UTR5 Human other chr1:33283128 chr1:33283128 . . 0 21 hm6Am_associated_SNPs_13141 1 Uncertain significance Charcot-Marie-Tooth, Intermediate RCV000274803.1
402 chr7 21582963 21582963 1 + G T rs2285943 21582963 - 21582943 21582983 41 CTCCTCCTCCTCCTCGAGCTCCACAGCGCCCACTGCCTCCA CTCCTCCTCCTCCTCGAGCTACACAGCGCCCACTGCCTCCA Direct Gain 0 0.963133189214515 NA NA prediction 0.926266378429029 Functional Gain - DNAH11 ENSG00000105877 CDS Human protein_coding chr7:21582963 chr7:21582963 stopgain 0.045 0 21 hm6Am_associated_SNPs_13212 2 Benign not specified RCV000079613.4
402 chr7 21582963 21582963 1 + G T rs2285943 21582963 - 21582943 21582983 41 CTCCTCCTCCTCCTCGAGCTCCACAGCGCCCACTGCCTCCA CTCCTCCTCCTCCTCGAGCTACACAGCGCCCACTGCCTCCA Direct Gain 0 0.963133189214515 NA NA prediction 0.926266378429029 Functional Gain - DNAH11 ENSG00000105877 CDS Human protein_coding chr7:21582963 chr7:21582963 stopgain 0.045 0 21 hm6Am_associated_SNPs_13212 2 Benign Primary ciliary dyskinesia RCV000371177.1
402 chr4 159593512 159593512 1 + G A rs183609368 159593512 + 159593492 159593532 41 GAGTTCTTGCTTTCCGGCAGGTGATGGCGCCCCCCGCGGCC GAGTTCTTGCTTTCCGGCAGATGATGGCGCCCCCCGCGGCC Direct Gain 0 0.96313060458365 NA NA prediction 0.926261209167299 Functional Gain - ETFDH ENSG00000171503 UTR5 Human protein_coding chr4:159593512 chr4:159593512 . . 0 21 hm6Am_associated_SNPs_13214 1 Uncertain significance Glutaric aciduria, type 2 RCV000398251.1