25 chr1 156100489 156100489 1 + C T rs80356805 156100494 + 156100474 156100514 41 GAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGA GAACTCCAAGGAGGCTGCACTGAGCACTGCTCTCAGTGAGA < 41bp 1 0.269995862528153 1 0.0722552537918091 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156100494 chr1:156100489 synonymous SNV . 0 16 Nm_associated_SNPs_27 2 other not specified RCV000041349.7
25 chr1 156100489 156100489 1 + C T rs80356805 156100494 + 156100474 156100514 41 GAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGA GAACTCCAAGGAGGCTGCACTGAGCACTGCTCTCAGTGAGA < 41bp 1 0.269995862528153 1 0.0722552537918091 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156100494 chr1:156100489 synonymous SNV . 0 16 Nm_associated_SNPs_27 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000461263.1
25 chr3 128445114 128445114 1 + C G rs141622970 128445117 + 128445097 128445137 41 TGGAACCAGAACTTGGACCTTCTCGCTTCTGTCCTCCGTTT TGGAACCAGAACTTGGAGCTTCTCGCTTCTGTCCTCCGTTT < 41bp 1 0.679060135788141 1 0.935334503650665 experiment 0.641879728423719 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445117 chr3:128445114 . . 0 18 Nm_associated_SNPs_38 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000330009.1
25 chr6 129498852 129498852 1 + T G rs41285286 129498865 + 129498845 129498885 41 CTTTAGGTTTGGCACCTGGATCCTGTCATTGCAAAACTGGT CTTTAGGGTTGGCACCTGGATCCTGTCATTGCAAAACTGGT < 41bp 1 0.181486333501581 1 0.0117796063423157 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control LAMA2 ENSG00000196569 CDS Human protein_coding chr6:129498865 chr6:129498852 synonymous SNV . 0 8 Nm_associated_SNPs_50 2 Likely benign not specified RCV000194438.2
25 chr6 129498852 129498852 1 + T G rs41285286 129498865 + 129498845 129498885 41 CTTTAGGTTTGGCACCTGGATCCTGTCATTGCAAAACTGGT CTTTAGGGTTGGCACCTGGATCCTGTCATTGCAAAACTGGT < 41bp 1 0.181486333501581 1 0.0117796063423157 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control LAMA2 ENSG00000196569 CDS Human protein_coding chr6:129498865 chr6:129498852 synonymous SNV . 0 8 Nm_associated_SNPs_50 2 Uncertain significance Congenital Muscular Dystrophy, LAMA2-related RCV000364705.1
25 chr15 89848390 89848390 1 + C T rs34462132 89848385 + 89848365 89848405 41 GAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATA GAGCTTGATGAACTTGCTCTTCAGCTTGCATGTTTCGTATA < 41bp 1 0.796407218934589 1 0.990591883659363 experiment 0.407185562130821 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control FANCI ENSG00000140525 CDS Human protein_coding chr15:89848385 chr15:89848390 synonymous SNV . 0 26 Nm_associated_SNPs_80 1 Uncertain significance Fanconi anemia RCV000317528.1
25 chr19 39207742 39207742 1 + G A rs112545413 39207744 + 39207724 39207764 41 AGCTCCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAG AGCTCCTGGAGTGGATCCAGCGCACCATCCCCTGGCTGGAG < 41bp 1 0.115717538155833 1 0.0169442594051361 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39207744 chr19:39207742 nonsynonymous SNV 1.000 1 19 Nm_associated_SNPs_103 1 Benign not specified RCV000242813.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Pathogenic McCune-Albright syndrome RCV000017290.4
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Pathogenic Somatotroph adenoma RCV000017291.4
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Pathogenic Cushing's syndrome RCV000017292.4
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Pathogenic Sex cord-stromal tumor RCV000017293.4
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000418739.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Adenocarcinoma of stomach RCV000419515.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Adrenocortical carcinoma RCV000421581.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Colorectal Neoplasms RCV000426918.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Hepatocellular carcinoma RCV000428995.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Pancreatic adenocarcinoma RCV000429798.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Neoplasm RCV000430768.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Malignant melanoma of skin RCV000436559.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Uterine cervical neoplasms RCV000437187.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Adenocarcinoma of lung RCV000439229.1
25 chr20 57484421 57484421 1 + G A BRCA 57484441 + 57484421 57484461 41 GTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG ATGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTG < 41bp 1 0.263660986237661 1 0.937743663787842 experiment 1 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57484441 chr20:57484421 nonsynonymous SNV 0.934 5 1 Nm_associated_SNPs_152 15 Likely pathogenic Neoplasm of the breast RCV000443822.1
25 chr11 67379389 67379389 1 + G A COAD 67379378 + 67379358 67379398 41 CGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCA CGTCACCCAGACGGACATCGTGAAAGCCATCACCCGCCTCA < 41bp 1 0.530251390426863 1 0.986665368080139 experiment 0.939497219146275 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control|28504680;GSE90165;Nm-seq;HEK293T;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379378 chr11:67379389 nonsynonymous SNV 0.997 2 32 Nm_associated_SNPs_226 3 Uncertain significance not specified RCV000195640.2
25 chr11 67379389 67379389 1 + G A COAD 67379378 + 67379358 67379398 41 CGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCA CGTCACCCAGACGGACATCGTGAAAGCCATCACCCGCCTCA < 41bp 1 0.530251390426863 1 0.986665368080139 experiment 0.939497219146275 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control|28504680;GSE90165;Nm-seq;HEK293T;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379378 chr11:67379389 nonsynonymous SNV 0.997 2 32 Nm_associated_SNPs_226 3 Uncertain significance Leigh syndrome RCV000327027.1
25 chr11 67379389 67379389 1 + G A COAD 67379378 + 67379358 67379398 41 CGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCA CGTCACCCAGACGGACATCGTGAAAGCCATCACCCGCCTCA < 41bp 1 0.530251390426863 1 0.986665368080139 experiment 0.939497219146275 Functional Loss 28504680;GSE90164;Nm-seq;HeLa;Control|28504680;GSE90165;Nm-seq;HEK293T;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379378 chr11:67379389 nonsynonymous SNV 0.997 2 32 Nm_associated_SNPs_226 3 Uncertain significance Mitochondrial complex I deficiency RCV000388550.1