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 EFNA3 1944 broad.mit.edu 37 1 155057707 155057707 + Missense_Mutation SNP T T C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr1:155057707T>C ENST00000368408.3 + 2 339 c.269T>C c.(268-270)aTg>aCg p.M90T EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T NM_004952.4 NP_004943.1 P52797 EFNA3_HUMAN ephrin-A3 90 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) GTGCTGTACATGGTGAGCCGC 0.677 5 19 --- --- --- --- STAT1 6772 broad.mit.edu 37 2 191851586 191851586 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr2:191851586C>T ENST00000361099.3 - 14 1602 c.1215G>A c.(1213-1215)cgG>cgA p.R405R STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000392322.3_Silent_p.R405R NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 405 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CTACCAGGTGCCGAAATTCAG 0.458 4 214 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210560413 210560413 + Missense_Mutation SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr2:210560413A>G ENST00000360351.4 + 7 4025 c.3519A>G c.(3517-3519)atA>atG p.I1173M MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1173 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAGTGGAAATACCTTGCCCAC 0.443 21 33 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14545076 14545076 + RNA SNP C C A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:14545076C>A ENST00000273083.3 - 0 2741 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCCATACCTCCAGTTCCCTC 0.617 5 12 --- --- --- --- ATP2C1 27032 broad.mit.edu 37 3 130698121 130698121 + Silent SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:130698121G>T ENST00000510168.1 + 19 2149 c.1599G>T c.(1597-1599)ctG>ctT p.L533L ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000359644.3_Silent_p.L533L P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 533 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GTCCTGAACTGGGACAGCTGA 0.383 Hailey-Hailey disease 17 111 --- --- --- --- ZBBX 79740 broad.mit.edu 37 3 167045902 167045902 + Silent SNP T T C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr3:167045902T>C ENST00000392766.2 - 11 1030 c.690A>G c.(688-690)gtA>gtG p.V230V ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 230 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGTAATTTCTACCTAATTAA 0.323 34 86 --- --- --- --- SORCS2 57537 broad.mit.edu 37 4 7741958 7741958 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr4:7741958C>T ENST00000507866.2 + 27 3556 c.3447C>T c.(3445-3447)aaC>aaT p.N1149N SORCS2_ENST00000329016.9_Silent_p.N992N NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1149 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TGAGCATCAACTCCCGAGAGA 0.612 7 9 --- --- --- --- GZMK 3003 broad.mit.edu 37 5 54327292 54327292 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr5:54327292G>A ENST00000231009.2 + 4 534 c.464G>A c.(463-465)gGa>gAa p.G155E CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 155 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ACTGGCTGGGGAGCCACCGAT 0.443 22 49 --- --- --- --- FTMT 94033 broad.mit.edu 37 5 121187964 121187964 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr5:121187964C>T ENST00000321339.1 + 1 315 c.306C>T c.(304-306)tcC>tcT p.S102S NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 102 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) ATTACTTCTCCCGGGATGACG 0.577 4 47 --- --- --- --- AMZ1 155185 broad.mit.edu 37 7 2752291 2752291 + Missense_Mutation SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr7:2752291G>T ENST00000312371.4 + 7 1644 c.1276G>T c.(1276-1278)Gac>Tac p.D426Y AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 426 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GGCAGAGGAGGACCTGGTGCA 0.697 20 6 --- --- --- --- CA9 768 broad.mit.edu 37 9 35676348 35676348 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr9:35676348C>T ENST00000378357.4 + 5 906 c.802C>T c.(802-804)Cgc>Tgc p.R268C CA9_ENST00000493245.1_Intron NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 268 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCCTTGGGGCGCCCGGGAGG 0.647 5 151 --- --- --- --- IFIT2 3433 broad.mit.edu 37 10 91066938 91066938 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr10:91066938G>A ENST00000371826.3 + 2 1394 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 409 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) AAGGGAGAAAGAAAAGATGAA 0.408 30 60 --- --- --- --- NELL1 4745 broad.mit.edu 37 11 20869195 20869195 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:20869195G>A ENST00000298925.5 + 5 639 c.486G>A c.(484-486)aaG>aaA p.K162K NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.K134K|NELL1_ENST00000532434.1_Silent_p.K134K Q92832 NELL1_HUMAN NEL-like 1 (chicken) 134 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACAATGGGAAGCCAAGGACAG 0.463 13 24 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65310638 65310638 + Missense_Mutation SNP T T G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:65310638T>G ENST00000301873.5 - 18 2802 c.2534A>C c.(2533-2535)aAt>aCt p.N845T LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 845 Cys-rich.|EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GTAGGAGCCATTGGTATTGAT 0.577 5 74 --- --- --- --- PDGFD 80310 broad.mit.edu 37 11 103870820 103870820 + Missense_Mutation SNP G G T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr11:103870820G>T ENST00000302251.5 - 2 721 c.270C>A c.(268-270)gaC>gaA p.D90E PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 96 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAAACTGATTGTCAAACACTA 0.418 34 55 --- --- --- --- CD163 9332 broad.mit.edu 37 12 7653874 7653874 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:7653874G>A ENST00000359156.4 - 3 520 c.318C>T c.(316-318)tcC>tcT p.S106S CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 106 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AACCTGCACTGGAATTAGCCC 0.483 50 56 --- --- --- --- KRT86 3892 broad.mit.edu 37 12 52700020 52700020 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:52700020C>T ENST00000293525.5 + 7 1255 c.1203C>T c.(1201-1203)atC>atT p.I401I KRT86_ENST00000423955.2_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 401 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTGGACATCGAGATCGCCA 0.627 OREG0021845 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 60 --- --- --- --- WIF1 11197 broad.mit.edu 37 12 65461530 65461530 + Silent SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr12:65461530A>G ENST00000286574.4 - 5 953 c.579T>C c.(577-579)aaT>aaC p.N193N NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 193 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TGCGTCTTTCATTACAAAAGC 0.493 T HMGA2 pleomorphic salivary gland adenoma 17 30 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57731273 57731273 + Missense_Mutation SNP A A C TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr15:57731273A>C ENST00000281282.5 + 2 1154 c.1076A>C c.(1075-1077)aAa>aCa p.K359T NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 359 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTAATTGAAAAATTTGATCAA 0.433 22 34 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65621731 65621731 + Silent SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr15:65621731G>A ENST00000327987.4 - 13 2453 c.2202C>T c.(2200-2202)ccC>ccT p.P734P NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 734 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACTCACTGTGGGTCTGGGGT 0.642 6 112 --- --- --- --- KIAA0753 9851 broad.mit.edu 37 17 6513363 6513363 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:6513363C>T ENST00000361413.3 - 9 2021 c.1663G>A c.(1663-1665)Gca>Aca p.A555T KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 555 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) ATCCATGGTGCCTTGCGGTCT 0.483 11 108 --- --- --- --- CCDC144CP 348254 broad.mit.edu 37 17 20224905 20224905 + RNA SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:20224905C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA GGTCGGGCGACGTCCCTGGGG 0.652 6 209 --- --- --- --- RAD51D 5892 broad.mit.edu 37 17 33430506 33430506 + Missense_Mutation SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:33430506C>T ENST00000345365.6 - 7 889 c.634G>A c.(634-636)Gtt>Att p.V212I RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 212 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 AGTGGGGAAACCACCGCAGTG 0.582 Direct reversal of damage 13 22 --- --- --- --- ZNF652 22834 broad.mit.edu 37 17 47394509 47394509 + Missense_Mutation SNP C C G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr17:47394509C>G ENST00000362063.2 - 2 897 c.579G>C c.(577-579)agG>agC p.R193S ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) AGGCAGCTCTCCTGGTTCTCC 0.493 4 85 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9046680 9046680 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:9046680G>A ENST00000397910.4 - 5 35154 c.34951C>T c.(34951-34953)Cct>Tct p.P11651S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11653 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGAGAAGGAGTCAAAGTT 0.512 9 116 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 30935474 30935474 + Silent SNP C C T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:30935474C>T ENST00000355537.3 + 2 1152 c.1005C>T c.(1003-1005)aaC>aaT p.N335N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGGGCCCCAACGGCGGTGGCG 0.657 6 137 --- --- --- --- EPN1 29924 broad.mit.edu 37 19 56206217 56206217 + Missense_Mutation SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr19:56206217A>G ENST00000411543.2 + 10 2195 c.1648A>G c.(1648-1650)Acg>Gcg p.T550A EPN1_ENST00000270460.6_Missense_Mutation_p.T464A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 464 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) ACCAACTCCCACGCCCCCCAC 0.716 10 11 --- --- --- --- VAPB 9217 broad.mit.edu 37 20 56993284 56993284 + Missense_Mutation SNP G G A TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chr20:56993284G>A ENST00000475243.1 + 2 414 c.76G>A c.(76-78)Gtc>Atc p.V26I VAPB_ENST00000395802.3_Missense_Mutation_p.V26I|VAPB_ENST00000265619.2_3'UTR NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 26 MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) CACCGATGTTGTCACCACCAA 0.473 4 116 --- --- --- --- FMR1NB 158521 broad.mit.edu 37 X 147084823 147084824 + Frame_Shift_Ins INS - - T TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ff7f1d-b776-4a67-9927-4071226f30f4 2cacf700-84ab-4917-8c2e-0f38205063dd g.chrX:147084823_147084824insT ENST00000370467.3 + 2 454_455 c.380_381insT c.(379-384)aattttfs p.NF127fs NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 127 P-type. integral to membrane p.F130fs*17(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCTTTGCTGAATTTTTTCTTTC 0.371 8 53 --- --- --- ---