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 SERBP1 26135 broad.mit.edu 37 1 67895763 67895763 + Missense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr1:67895763G>A ENST00000370994.4 - 1 335 c.221C>T c.(220-222)tCc>tTc p.S74F SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 74 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 GTCTTTCTGGGACTCCTTGCG 0.667 14 86 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94526101 94526101 + Missense_Mutation SNP A A G TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr1:94526101A>G ENST00000370225.3 - 14 2238 c.2152T>C c.(2152-2154)Ttc>Ctc p.F718L ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 718 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACCATGATGAATATCGTCAGG 0.468 9 54 --- --- --- --- PRKD3 23683 broad.mit.edu 37 2 37516516 37516516 + Missense_Mutation SNP C C A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr2:37516516C>A ENST00000379066.1 - 5 1462 c.700G>T c.(700-702)Gcc>Tcc p.A234S PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S O94806 KPCD3_HUMAN protein kinase D3 234 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) CTGGGAAGGGCTACATATTCA 0.418 3 68 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39053767 39053767 + Missense_Mutation SNP G G C TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr2:39053767G>C ENST00000295373.6 - 15 2830 c.2704C>G c.(2704-2706)Cct>Gct p.P902A NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 902 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CCTGCAGGAGGTTTTACAAAC 0.383 3 55 --- --- --- --- IGKV1D-16 28901 broad.mit.edu 37 2 90139131 90139131 + RNA SNP C C T TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr2:90139131C>T ENST00000492446.1 + 0 54 TCGCTCAGCTCCTGGGGCTCC 0.522 4 269 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179592402 179592402 + Missense_Mutation SNP A A C TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr2:179592402A>C ENST00000589042.1 - 68 20127 c.19903T>G c.(19903-19905)Tca>Gca p.S6635A TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6318 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCATCCACTGAGTAGAGATTT 0.403 13 220 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219735816 219735816 + Missense_Mutation SNP C C T TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr2:219735816C>T ENST00000233948.3 + 2 365 c.148C>T c.(148-150)Cgg>Tgg p.R50W WNT6_ENST00000486233.1_Intron NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 50 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGGCCGGGCGGCAGGCCGA 0.667 6 123 --- --- --- --- CNOT10 25904 broad.mit.edu 37 3 32800949 32800949 + Splice_Site SNP G G C TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr3:32800949G>C ENST00000328834.5 + 14 1911 c.e14-1 CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 TTGTGTTATAGGTGCTCCATA 0.428 18 491 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71096126 71096126 + Nonsense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr3:71096126G>A ENST00000318789.4 - 10 1156 c.631C>T c.(631-633)Cag>Tag p.Q211* FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211* NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 211 Gln-rich. GQP -> ARA (in Ref. 1; AAK69408). cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) AGGGCAGGCTGCCCGGGCTGA 0.532 T PAX5 ALL 24 262 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71096127 71096127 + Silent SNP C C A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr3:71096127C>A ENST00000318789.4 - 10 1155 c.630G>T c.(628-630)ggG>ggT p.G210G FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000468577.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 210 Gln-rich. GQP -> ARA (in Ref. 1; AAK69408). cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGGCAGGCTGCCCGGGCTGAA 0.532 T PAX5 ALL 25 258 --- --- --- --- EVC 2121 broad.mit.edu 37 4 5735120 5735120 + Silent SNP C C T TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr4:5735120C>T ENST00000382674.2 + 5 844 c.660C>T c.(658-660)gaC>gaT p.D220D EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D P57679 EVC_HUMAN Ellis van Creveld syndrome 220 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ACTTAAAAGACCTGCTGCATT 0.468 63 281 --- --- --- --- PPM1K 152926 broad.mit.edu 37 4 89183862 89183862 + Missense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr4:89183862G>A ENST00000608933.1 - 7 1393 c.1004C>T c.(1003-1005)aCt>aTt p.T335I PPM1K_ENST00000508256.1_Missense_Mutation_p.T116I|PPM1K_ENST00000295908.7_Missense_Mutation_p.T290I NM_152542.4 NP_689755.3 Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GTTATCCTCAGTACCGTACTG 0.423 10 39 --- --- --- --- ATOH1 474 broad.mit.edu 37 4 94750937 94750937 + Missense_Mutation SNP T T A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr4:94750937T>A ENST00000306011.3 + 1 896 c.860T>A c.(859-861)gTg>gAg p.V287E NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 287 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GGGTACTCGGTGCAGCTGGAC 0.647 7 89 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126242060 126242060 + Silent SNP C C G TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr4:126242060C>G ENST00000394329.3 + 1 4507 c.4494C>G c.(4492-4494)gcC>gcG p.A1498A NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1498 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGTAAAAGCCAATGATCAAG 0.383 22 99 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32010244 32010244 + Silent SNP C C G rs149810124 byFrequency TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr6:32010244C>G ENST00000375244.3 - 40 12399 c.12198G>C c.(12196-12198)ggG>ggC p.G4066G TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G P22105 TENX_HUMAN tenascin XB 4111 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCAGCCGCCCCCATCAGTCT 0.652 5 71 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72409217 72409217 + Missense_Mutation SNP T T G TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr7:72409217T>G ENST00000395270.1 + 9 1610 c.569T>G c.(568-570)aTa>aGa p.I190R POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 455 Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCAAAGAAAATAAGGTACTTG 0.537 14 111 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84607230 84607230 + Silent SNP T T C TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr9:84607230T>C ENST00000344803.2 + 4 1892 c.1845T>C c.(1843-1845)tcT>tcC p.S615S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGGCACGGTCTCTTTTGCCAT 0.478 4 81 --- --- --- --- DPP7 29952 broad.mit.edu 37 9 140007905 140007905 + Missense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr9:140007905G>A ENST00000371579.2 - 5 533 c.529C>T c.(529-531)Cac>Tac p.H177Y NM_013379.2 NP_037511.2 Q9UHL4 DPP2_HUMAN dipeptidyl-peptidase 7 177 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) GCCACCAGGTGGGGATACTTC 0.642 3 37 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57506220 57506220 + Missense_Mutation SNP A A G TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr11:57506220A>G ENST00000278422.4 + 5 538 c.526A>G c.(526-528)Atc>Gtc p.I176V TMX2_ENST00000378312.4_Missense_Mutation_p.I138V|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 176 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 ATTTGCCCCTATCTATGCTGA 0.473 32 155 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92088411 92088411 + Missense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr11:92088411G>A ENST00000298047.6 + 1 3150 c.3133G>A c.(3133-3135)Gac>Aac p.D1045N FAT3_ENST00000525166.1_Missense_Mutation_p.D895N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1045 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTATTTCCCAGACTTTGCTGT 0.498 TCGA Ovarian(4;0.039) 4 53 --- --- --- --- SLC12A4 6560 broad.mit.edu 37 16 67988583 67988583 + Missense_Mutation SNP G G C TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr16:67988583G>C ENST00000422611.2 - 5 683 c.644C>G c.(643-645)gCa>gGa p.A215G SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 213 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTACATGGCTGCTGCGAATGT 0.562 5 86 --- --- --- --- HPN 3249 broad.mit.edu 37 19 35556886 35556886 + Missense_Mutation SNP G G A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr19:35556886G>A ENST00000262626.2 + 12 1990 c.1165G>A c.(1165-1167)Gtc>Atc p.V389I HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 389 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GAAGCCAGGCGTCTACACCAA 0.587 4 169 --- --- --- --- ZNF610 162963 broad.mit.edu 37 19 52868989 52868989 + Missense_Mutation SNP C C A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr19:52868989C>A ENST00000601151.1 + 5 681 c.229C>A c.(229-231)Cct>Act p.P77T ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 120 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGAAAACAAGCCTATTAAAAA 0.403 5 148 --- --- --- --- FAM211B 388886 broad.mit.edu 37 22 24982300 24982300 + Missense_Mutation SNP C C A TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr22:24982300C>A ENST00000318753.8 - 4 525 c.502G>T c.(502-504)Gtg>Ttg p.V168L GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 168 ATGTGTTGCACGTCCTGTGTC 0.617 7 355 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105615582 105615582 + Frame_Shift_Del DEL A A - TCGA-EJ-7797-01A-11D-2260-08 TCGA-EJ-7797-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4637e5f8-e2cb-48ac-8f87-ef89e3c37574 c5de444a-73e7-4ab5-a966-7865d0d139ec g.chr14:105615582delA ENST00000331782.3 - 13 2081 c.1678delT c.(1678-1680)tgcfs p.C560fs JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 560 EGF-like 9. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GGGCAGGCGCAGTAATAGTCA 0.662 62 334 --- --- --- ---