Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SERPINA10 51156 broad.mit.edu 37 14 94756943 94756943 + Silent SNP G G C rs45505795 by1000genomes TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr14:94756943G>C ENST00000554723.1 - 2 526 c.108C>G c.(106-108)tcC>tcG p.S36S SERPINA10_ENST00000393096.1_5'UTR|SERPINA10_ENST00000554173.1_5'UTR|SERPINA10_ENST00000261994.4_5'UTR Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 0 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GATCGGCTGCGGAGGCCAAGG 0.562000 3 22 0 0 1 0 0 RP11-813I20.2 0 broad.mit.edu 37 14 56233069 56233069 + RNA SNP G G T rs10144431 by1000genomes TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr14:56233069G>T ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA GGCTTTCCTCGGCAAGCGGAT 0.562000 3 30 0.115264 0.118219 1 1 0 RP11-813I20.2 0 broad.mit.edu 37 14 56232970 56232970 + RNA SNP T T C rs2184557 by1000genomes TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr14:56232970T>C ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA CGTGGCTAAGTAGTTACTGCT 0.587000 3 24 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72093914 72093914 + RNA SNP C C A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr7:72093914C>A ENST00000438125.1 - 0 1188 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ACACGAGCTGCGCGTAGGCCT 0.527000 3 19 1 1 1 1 0 TRAV6 0 broad.mit.edu 37 14 22236771 22236771 + RNA SNP C C T rs11623408 by1000genomes TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr14:22236771C>T ENST00000390428.3 + 0 43 GTCTACATTTCAGGCCACATT 0.468000 6 149 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28846948 28846948 + Missense_Mutation SNP A A C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr16:28846948A>C ENST00000336783.4 + 21 2931 c.2764A>C c.(2764-2766)Acg>Ccg p.T922P ATXN2L_ENST00000340394.8_Missense_Mutation_p.T922P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T928P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T922P|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T922P|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T922P|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T922P NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 922 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCTGACAGGCACGCCGCCCTC 0.672000 15 34 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 57 63 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156255560 156255560 + Silent SNP G G A rs140033065 byFrequency TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr1:156255560G>A ENST00000405535.2 + 2 714 c.543G>A c.(541-543)ccG>ccA p.P181P TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Silent_p.P181P|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 181 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) TGGTGAGGCCGCCTGGCTGTT 0.682000 8 76 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33501967 33501967 + Nonsense_Mutation SNP C C T TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr20:33501967C>T ENST00000360596.2 + 6 923 c.712C>T c.(712-714)Cag>Tag p.Q238* ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q238*|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q188* NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 238 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCAGAAGTGTCAGGAGAAGTA 0.537000 3 31 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788151 3788151 + Missense_Mutation SNP T T C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr12:3788151T>C ENST00000440314.2 - 6 927 c.454A>G c.(454-456)Atg>Gtg p.M152V EFCAB4B_ENST00000444507.1_Missense_Mutation_p.M152V|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.M152V NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 152 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCTTCGCCCATGTCGCCCAGA 0.532000 48 74 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541435 32541435 + Missense_Mutation SNP G G A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr9:32541435G>A ENST00000360538.2 - 3 3204 c.3088C>T c.(3088-3090)Cgg>Tgg p.R1030W TOPORS_ENST00000379858.1_Missense_Mutation_p.R965W NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 1030 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AATGATGTCCGTGGCGATGGC 0.393000 4 62 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118362606 118362606 + Missense_Mutation SNP A A C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr11:118362606A>C ENST00000534358.1 + 15 4990 c.4967A>C c.(4966-4968)aAt>aCt p.N1656T KMT2A_ENST00000389506.5_Missense_Mutation_p.N1653T|KMT2A_ENST00000354520.4_Missense_Mutation_p.N1615T NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCTTTGTTGAATTCTCGGACT 0.473000 5 51 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62543326 62543326 + Missense_Mutation SNP C C T rs76769410 byFrequency TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr11:62543326C>T ENST00000294168.3 + 2 272 c.71C>T c.(70-72)aCg>aTg p.T24M TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 24 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GCGGAGAGCACGGGCCTGGAG 0.637000 4 57 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445518 128445518 + Missense_Mutation SNP G G T TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr7:128445518G>T ENST00000297788.4 + 6 1255 c.888G>T c.(886-888)atG>atT p.M296I CCDC136_ENST00000487361.1_Missense_Mutation_p.M296I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M334I|CCDC136_ENST00000464832.1_Missense_Mutation_p.M346I NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 296 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 ATCCTGAAATGCAGTTGTTAC 0.502000 38 66 1.90571e-15 2.00601e-15 1 1 0 MED15 51586 broad.mit.edu 37 22 20909296 20909296 + Silent SNP G G C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr22:20909296G>C ENST00000263205.7 + 5 381 c.312G>C c.(310-312)cgG>cgC p.R104R MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Silent_p.R104R|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Silent_p.R78R|MED15_ENST00000406969.1_Silent_p.R78R NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 104 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TGCCTCCTCGGGGCCCGGGAC 0.647000 5 50 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60885869 60885869 + Missense_Mutation SNP T T C rs142251832 TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr11:60885869T>C ENST00000347785.3 + 3 483 c.317T>C c.(316-318)aTc>aCc p.I106T NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 106 SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) AGCTCAATCATCTGCTACGGA 0.562000 10 191 0 0 1 0 0 BRCC3 79184 broad.mit.edu 37 X 154305462 154305462 + Silent SNP T T A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chrX:154305462T>A ENST00000369462.1 + 4 238 c.213T>A c.(211-213)atT>atA p.I71I BRCC3_ENST00000330045.7_Silent_p.I71I|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Silent_p.I71I|BRCC3_ENST00000369459.2_Silent_p.I71I|BRCC3_ENST00000340647.4_Silent_p.I72I NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 71 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCGTCAGAATTGTTCACATTC 0.413000 20 30 0 0 1 0 0 CTC-457E21.3 0 broad.mit.edu 37 19 22785299 22785299 + RNA SNP T T G rs11670278 by1000genomes TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr19:22785299T>G ENST00000600260.1 + 0 1475 NR_033899.1 CCCTGCAGGGTGCCATGGAGA 0.632000 4 25 0 0 1 0 0 FAM131C 348487 broad.mit.edu 37 1 16388993 16388993 + Splice_Site SNP C C T TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr1:16388993C>T ENST00000375662.4 - 3 358 c.e3+1 FAM131C_ENST00000494078.1_Splice_Site NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCACTGACCTGCCAAGGA 0.607000 3 5 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65894933 65894934 + RNA DEL AA AA - TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr2:65894933_65894934delAA ENST00000377977.3 + 0 862 TCAGAGGTTTAAAAAAAAAAAA 0.520 2 4 --- --- --- ---