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 CHST4 10164 broad.mit.edu 37 16 71571103 71571103 + Missense_Mutation SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr16:71571103G>C ENST00000338482.5 + 3 866 c.523G>C c.(523-525)Gtg>Ctg p.V175L ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 175 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CAGCCACGTGGTGCTCAAGGA 0.617000 3 68 0 0 0.000602214 0 0 ZNF318 24149 broad.mit.edu 37 6 43305058 43305058 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:43305058A>G ENST00000361428.2 - 10 6755 c.6678T>C c.(6676-6678)gaT>gaC p.D2226D ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2226 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CACTGTCATCATCTACTTGCA 0.493000 16 37 0 0 0.00400662 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998716 120998716 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:120998716A>G ENST00000273666.6 + 19 2294 c.2023A>G c.(2023-2025)Agc>Ggc p.S675G STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 675 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGTACTGTTAAGCATGGGGAC 0.398000 27 46 0 0 0.000878237 0 0 CIITA 4261 broad.mit.edu 37 16 11016081 11016081 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr16:11016081G>A ENST00000324288.8 + 17 3340 c.3207G>A c.(3205-3207)ccG>ccA p.P1069P CIITA_ENST00000381835.5_Silent_p.P485P NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1069 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GTGTGCTTCCGGACATGGTGT 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 36 138 0 0 0.00111076 0 0 CFHR4 10877 broad.mit.edu 37 1 196876014 196876014 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:196876014G>A ENST00000367416.2 + 4 597 c.460G>A c.(460-462)Gag>Aag p.E154K CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GCCTGTTTTTGAGAATTCCAG 0.373000 8 23 0 0 0.000442599 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26236921 26236921 + RNA SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr8:26236921C>T ENST00000519902.1 - 0 3027 TTCTTTTTCTCTTTTCAAAAG 0.368000 4 8 0 0 0.00024832 0 0 RGAG4 340526 broad.mit.edu 37 X 71350448 71350448 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chrX:71350448T>C ENST00000545866.1 - 1 1310 c.943A>G c.(943-945)Aag>Gag p.K315E NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 315 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GGGATAGGCTTGGGAACGCGC 0.468000 3 87 0 0 6.4e-05 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935540 151935540 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chrX:151935540G>A ENST00000393902.3 - 3 1194 c.627C>T c.(625-627)atC>atT p.I209I MAGEA3_ENST00000370278.3_Silent_p.I209I P43357 MAGA3_HUMAN melanoma antigen family A, 3 209 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTCTTGCGATTATGGCCA 0.562000 13 169 0 0 0.00316338 0 0 LTK 4058 broad.mit.edu 37 15 41797503 41797503 + Splice_Site SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr15:41797503C>T ENST00000263800.6 - 15 1924 c.1827_splice c.e15-1 p.G610_splice LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 610 Protein kinase. apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GATGGCTGGCCCTGGGTCAGG 0.597000 TSP Lung(18;0.14) 5 44 0 0 0.000602214 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912208 102912208 + RNA SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:102912208C>T ENST00000312132.4 - 0 2371 CGTTTTACTGCATTAATTACA 0.333000 5 62 0 0 0.000602214 0 0 LILRB1 10859 broad.mit.edu 37 19 55144664 55144664 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:55144664C>T ENST00000396331.1 + 8 1513 c.1156C>T c.(1156-1158)Cct>Tct p.P386S LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 386 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCCATGGGTCCTGTGACCTC 0.567000 HNSCC(37;0.09) 32 105 0 0 0.00178596 0 0 KIF19 124602 broad.mit.edu 37 17 72341019 72341019 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:72341019C>T ENST00000389916.4 + 7 840 c.702C>T c.(700-702)gtC>gtT p.V234V NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 234 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCAGCCGGGTCAAGAACATCT 0.697000 10 26 0 0 0.000673444 0 0 KIF17 57576 broad.mit.edu 37 1 21013938 21013938 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:21013938G>A ENST00000247986.2 - 8 2191 c.1881C>T c.(1879-1881)tcC>tcT p.S627S KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S|KIF17_ENST00000490034.1_Intron Q9P2E2 KIF17_HUMAN kinesin family member 17 627 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCACGGTGGAGGAGAGTCTGG 0.637000 34 72 0 0 0.00428921 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158957 18158957 + Missense_Mutation SNP G G A rs145864519 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:18158957G>A ENST00000396275.2 + 3 569 c.208G>A c.(208-210)Gcg>Acg p.A70T NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 70 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CAACCTGGTCGCGGCCGACTT 0.567000 44 76 0 0 0.0025221 0 0 TRIM51 84767 broad.mit.edu 37 11 55653151 55653151 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:55653151C>T ENST00000449290.2 + 2 339 c.247C>T c.(247-249)Cgg>Tgg p.R83W NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 83 intracellular zinc ion binding AGCCAGCCTCCGGCAATTCCT 0.483000 7 14 0 0 0.00198382 0 0 DOT1L 84444 broad.mit.edu 37 19 2214510 2214510 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:2214510C>T ENST00000398665.3 + 19 1874 c.1838C>T c.(1837-1839)aCg>aTg p.T613M DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 613 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACTGGGCCACGCTGTCGCTG 0.647000 14 25 0 0 0.00316338 0 0 TECPR2 9895 broad.mit.edu 37 14 102874944 102874944 + Silent SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr14:102874944G>C ENST00000359520.7 + 4 694 c.468G>C c.(466-468)ctG>ctC p.L156L TECPR2_ENST00000558678.1_Silent_p.L156L|TECPR2_ENST00000561228.1_3'UTR NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 156 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ATTCTTCTCTGGATCTAGACC 0.338000 19 48 0 0 0.00121646 0 0 PTGR2 145482 broad.mit.edu 37 14 74327274 74327274 + Nonsense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr14:74327274C>T ENST00000555661.1 + 3 215 c.70C>T c.(70-72)Cga>Tga p.R24* RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000554885.1_5'UTR Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 24 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 AGAGAATTTCCGAATGGAAGA 0.284000 22 38 0 0 0.00278032 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963629 88963629 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:88963629C>G ENST00000333190.4 + 4 1942 c.1333C>G c.(1333-1335)Cac>Gac p.H445D NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 445 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACCTTTTCTCCACGTTCAAAG 0.398000 HNSCC(36;0.09) 3 59 0 0 0.00024832 0 0 FSIP2 401024 broad.mit.edu 37 2 186670771 186670771 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr2:186670771G>A ENST00000343098.5 + 17 17005 c.17005G>A c.(17005-17007)Gat>Aat p.D5669N FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AGGGAAAGATGATGAGATATA 0.274000 38 80 0 0 0.00148497 0 0 ZNF124 7678 broad.mit.edu 37 1 247320151 247320151 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:247320151C>G ENST00000340684.6 - 4 725 c.587G>C c.(586-588)gGt>gCt p.G196A ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A NM_003431.2 NP_003422.2 Q15973 ZN124_HUMAN zinc finger protein 124 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) GGGTTCTTCACCAGCATGAGC 0.438000 32 68 0 0 0.00178596 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887399 155887399 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:155887399T>G ENST00000368320.3 - 11 1356 c.1331A>C c.(1330-1332)cAg>cCg p.Q444P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P Q7Z7F0 K0907_HUMAN KIAA0907 444 Pro-rich. p.Q444P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggGCCAGC 0.562000 4 13 0 0 0.00024832 0 0 SOAT2 8435 broad.mit.edu 37 12 53509227 53509227 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:53509227C>T ENST00000301466.3 + 6 557 c.497C>T c.(496-498)gCg>gTg p.A166V NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 166 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 CTGCCATTGGCGCTGGTGACC 0.612000 14 29 0 0 0.00400662 0 0 ZNF525 170958 broad.mit.edu 37 19 53884457 53884457 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:53884457C>T ENST00000467003.1 + 4 718 c.517C>T c.(517-519)Cgc>Tgc p.R173C ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 ACAGGAAGTACGCATGAGAGA 0.348000 23 55 0 0 0.00278032 0 0 PRMT6 55170 broad.mit.edu 37 1 107600207 107600207 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:107600207C>G ENST00000361318.5 + 1 941 c.693C>G c.(691-693)atC>atG p.I231M PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 290 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GCTTTGCCATCTGGTTCCAGG 0.662000 15 36 0 0 0.00316338 0 0 WDR60 55112 broad.mit.edu 37 7 158695196 158695196 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:158695196A>T ENST00000407559.3 + 10 1425 c.1267A>T c.(1267-1269)Att>Ttt p.I423F NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 423 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TCAAAGAGCTATTAATGCAGA 0.368000 19 67 0 0 0.000958276 0 0 NCOA1 8648 broad.mit.edu 37 2 24929972 24929972 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr2:24929972A>G ENST00000405141.1 + 14 2344 c.1633A>G c.(1633-1635)Aat>Gat p.N545D NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 545 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGGTATGAATGAAGGACC 0.423000 T PAX3 alveolar rhadomyosarcoma 9 38 0 0 0.00448238 0 0 DDC 1644 broad.mit.edu 37 7 50605594 50605594 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:50605594C>G ENST00000444124.2 - 4 599 c.399G>C c.(397-399)ttG>ttC p.L133F DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 133 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CTTTCTCATTCAAAAATGCCT 0.572000 22 64 0 0 0.00152264 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256564 140256564 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr5:140256564G>A ENST00000398631.2 + 1 1507 c.1507G>A c.(1507-1509)Gca>Aca p.A503T PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGCACGCACTGTCGAG 0.677000 8 87 0 0 0.000442599 0 0 CDYL2 124359 broad.mit.edu 37 16 80718469 80718469 + Silent SNP G G A rs149647231 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr16:80718469G>A ENST00000299564.8 - 2 737 c.582C>T c.(580-582)gaC>gaT p.D194D CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 194 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CGTGATTCACGTCACATTCAC 0.527000 15 59 0 0 0.000566183 0 0 HDAC4 9759 broad.mit.edu 37 2 239988450 239988450 + Nonsense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr2:239988450C>A ENST00000345617.3 - 24 3747 c.2956G>T c.(2956-2958)Gaa>Taa p.E986* HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570* NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 986 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACACATGCTTCCGAGGCGTCG 0.642000 32 45 6.00712e-18 1.74207e-17 0.0024448 1 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 53 0 0 0.00024832 0 0 ZNF708 7562 broad.mit.edu 37 19 21476934 21476934 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:21476934T>G ENST00000356929.3 - 4 1031 c.834A>C c.(832-834)aaA>aaC p.K278N NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 ATTTGTAGGGTTTCTCTCCAG 0.373000 23 54 0 0 0.00395357 0 0 FLG 2312 broad.mit.edu 37 1 152279921 152279921 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:152279921A>G ENST00000368799.1 - 3 7476 c.7441T>C c.(7441-7443)Ttg>Ctg p.L2481L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2481 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTATCTACCAATTGCTCGTAG 0.567000 Ichthyosis 5 534 0 0 0.000602214 0 0 MPZL3 196264 broad.mit.edu 37 11 118107898 118107898 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:118107898T>C ENST00000278949.4 - 3 373 c.318A>G c.(316-318)gtA>gtG p.V106V MPZL3_ENST00000527472.1_Silent_p.V94V|MPZL3_ENST00000525386.1_Intron Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 106 Ig-like V-type. cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCCCTTTGTATACATTTCCAA 0.428000 61 71 0 0 0.00361006 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 6 162 0 0 0.00307968 0 0 CBR4 84869 broad.mit.edu 37 4 169927998 169927998 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:169927998T>C ENST00000306193.3 - 3 476 c.308A>G c.(307-309)cAg>cGg p.Q103R CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 103 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) AGTATGAAGCTGAGATACCAT 0.368000 6 151 0 0 0.00307968 0 0 NAA15 80155 broad.mit.edu 37 4 140265372 140265372 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:140265372T>C ENST00000296543.5 + 6 893 c.570T>C c.(568-570)agT>agC p.S190S NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.S190S NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 190 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 ATGAATATAGTGAACTACTCT 0.333000 3 43 0 0 6.4e-05 0 0 DPPA2 151871 broad.mit.edu 37 3 109028057 109028057 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:109028057C>T ENST00000478945.1 - 4 548 c.302G>A c.(301-303)cGg>cAg p.R101Q NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 101 SAP. nucleus nucleic acid binding p.R101L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACACCAGTCCCGCAAAGTGTC 0.453000 42 182 0 0 0.00195071 0 0 OR52E2 119678 broad.mit.edu 37 11 5080067 5080067 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:5080067C>T ENST00000321522.2 - 1 790 c.791G>A c.(790-792)cGc>cAc p.R264H NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 264 R -> C (in dbSNP:rs2500052). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCGGCCAAAGCGATGAGTCAT 0.473000 6 75 0 0 0.00116845 0 0 MUC17 140453 broad.mit.edu 37 7 100677784 100677784 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:100677784T>C ENST00000306151.4 + 3 3151 c.3087T>C c.(3085-3087)ggT>ggC p.G1029G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1029 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGCTGAAGGTACCAGCATGC 0.502000 178 464 0 0 0.00361006 0 0 OR52N1 79473 broad.mit.edu 37 11 5809698 5809698 + Missense_Mutation SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:5809698G>C ENST00000317078.1 - 1 348 c.349C>G c.(349-351)Ctc>Gtc p.L117V TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATGAGCATGAGCACCCCAGAC 0.498000 22 77 0 0 0.00332997 0 0 ANO8 57719 broad.mit.edu 37 19 17436103 17436103 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:17436103G>A ENST00000159087.4 - 17 2912 c.2754C>T c.(2752-2754)gcC>gcT p.A918A NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 918 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GCTCCCGCCGGGCATGGTGCT 0.697000 15 32 0 0 0.000566183 0 0 COX7A2 1347 broad.mit.edu 37 6 75947582 75947582 + Nonstop_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:75947582T>C ENST00000472311.2 - 3 281 c.231A>G c.(229-231)tgA>tgG p.*77W COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000230459.4_3'UTR P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 CGGTTATTTATCAGATTACTG 0.418000 6 15 0 0 0.00116845 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634710 156634710 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:156634710A>T ENST00000296518.7 + 7 1756 c.1547A>T c.(1546-1548)cAg>cTg p.Q516L GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 516 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTCGACCAGCAGTGTGGAGAG 0.522000 6 37 0 0 0.00198382 0 0 RFX6 222546 broad.mit.edu 37 6 117237221 117237221 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:117237221C>A ENST00000332958.2 + 8 847 c.831C>A c.(829-831)gaC>gaA p.D277E RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 277 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GTATCCTGGACAATGCAATTA 0.343000 13 52 5.50884e-06 1.4861e-05 0.00136819 1 0 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:8307709A>G ENST00000307358.2 + 9 1412 c.1208A>G c.(1207-1209)cAa>cGa p.Q403R NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCGGCATCCAAGATGGTGAC 0.647000 4 75 0 0 0.000602214 0 0 T 6862 broad.mit.edu 37 6 166571825 166571825 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:166571825G>T ENST00000296946.2 - 9 1754 c.1286C>A c.(1285-1287)cCt>cAt p.P429H T_ENST00000366871.3_Missense_Mutation_p.P371H NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 429 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGGCGACACAGGTGTCCATGA 0.612000 Chordoma, Familial Clustering of 14 158 1.05317e-09 2.93203e-09 0.00244969 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074702 76074702 + RNA SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr15:76074702G>C ENST00000395215.3 + 0 774 CCGGTGGCAGGAGAGGATGTG 0.488000 4 120 0 0 0.000602214 0 0 BTLA 151888 broad.mit.edu 37 3 112198458 112198458 + Nonsense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:112198458C>A ENST00000334529.5 - 2 449 c.247G>T c.(247-249)Gaa>Taa p.E83* BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83* NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 83 Ig-like V-type. T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TGTCTATCTTCAAGTTTTACA 0.408000 21 96 1.50039e-11 4.24501e-11 0.00188189 1 0 SMAD4 4089 broad.mit.edu 37 18 48603080 48603080 + Nonsense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr18:48603080C>T ENST00000342988.3 + 11 1919 c.1381C>T c.(1381-1383)Cag>Tag p.Q461* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 461 MH2.|Poly-Ala. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) AGCAGCTGCCCAGGCAGCAGC 0.468000 12 23 0 0 0.00136819 0 0 KCNMB1 3779 broad.mit.edu 37 5 169810824 169810824 + Silent SNP C C A rs143181866 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr5:169810824C>A ENST00000274629.4 - 3 607 c.165G>T c.(163-165)ctG>ctT p.L55L KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 55 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TGGTCTCAATCAGGTGGCACT 0.567000 8 16 5.18039e-06 1.40842e-05 0.00307968 1 0 JADE1 79960 broad.mit.edu 37 4 129776938 129776938 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:129776938C>T ENST00000226319.6 + 7 1130 c.850C>T c.(850-852)Ctg>Ttg p.L284L PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L|PHF17_ENST00000413543.2_Silent_p.L284L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 284 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TAGCTGTGCTCTGTGGATCCC 0.512000 8 32 0 0 0.00307968 0 0 ODF2 4957 broad.mit.edu 37 9 131233667 131233667 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr9:131233667C>T ENST00000303890.5 + 8 1014 c.429C>T c.(427-429)caC>caT p.H143H ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000535026.1_Intron NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 167 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AGGTGGCCCACGAACTGGCTG 0.577000 32 41 0 0 0.00209593 0 0 ZRSR2 8233 broad.mit.edu 37 X 15809058 15809058 + Splice_Site SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chrX:15809058C>A ENST00000307771.7 + 2 67 c.41_splice c.e2-1 p.H15_splice ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 15 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) ATCTTCCAGCCACAAAAAGTA 0.512000 """F, S, Mis""" """MDS, CLL""" 12 18 3.07112e-06 8.41535e-06 0.000978159 1 0 HSD3B1 3283 broad.mit.edu 37 1 120050217 120050217 + Missense_Mutation SNP G G A rs141328314 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:120050217G>A ENST00000235547.6 + 2 263 c.124G>A c.(124-126)Gga>Aga p.G42R HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 40 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.G40I(1)|p.G40R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CAAGGCCTTCGGACCAGAATT 0.507000 23 71 0 0 0.00395357 0 0 HTR1F 3355 broad.mit.edu 37 3 88040372 88040372 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:88040372C>T ENST00000319595.4 + 1 527 c.473C>T c.(472-474)cCt>cTt p.P158L NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 158 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCTATGCCTCCTCTATTCTGG 0.408000 23 23 0 0 0.00188189 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 3 49 0 0 6.4e-05 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 3 57 0 0 6.4e-05 0 0 IGHM 3507 broad.mit.edu 37 14 106320515 106320515 + RNA SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr14:106320515G>A ENST00000390559.2 - 0 1294 TTTACCGGTGGACTTGTCCAC 0.642000 6 94 0 0 0.00198382 0 0 BCAS3 54828 broad.mit.edu 37 17 59115269 59115269 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:59115269A>G ENST00000589222.1 + 18 1850 c.1782A>G c.(1780-1782)gtA>gtG p.V594V BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000408905.3_Silent_p.V594V|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588874.1_Silent_p.V365V Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 609 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AACAAGTTGTAGTTGAGTCCC 0.428000 4 267 0 0 0.00024832 0 0 OR51B2 79345 broad.mit.edu 37 11 5345445 5345445 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:5345445G>A ENST00000328813.2 - 1 137 c.83C>T c.(82-84)cCc>cTc p.P28L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P28L(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCAAAGAAGGGGATGGAGAT 0.502000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 37 0 0 0.00136819 0 0 MCM3AP 8888 broad.mit.edu 37 21 47660924 47660924 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr21:47660924T>C ENST00000397708.1 - 27 5688 c.5434A>G c.(5434-5436)Ata>Gta p.I1812V MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1812 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAAGGCTTTATTGCCAAACTG 0.388000 46 86 0 0 0.00361006 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347632 38347632 + Missense_Mutation SNP C C T rs142344011 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:38347632C>T ENST00000273173.4 + 1 206 c.115C>T c.(115-117)Cgc>Tgc p.R39C SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 39 integral to plasma membrane organic cation transmembrane transporter activity p.R39C(1) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GATGCTGTTACGCAGATTGAG 0.537000 10 80 0 0 0.000673444 0 0 CPNE4 131034 broad.mit.edu 37 3 131254048 131254048 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:131254048T>C ENST00000512055.1 - 20 3791 c.1665A>G c.(1663-1665)ctA>ctG p.L555L CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000511604.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L Q96A23 CPNE4_HUMAN copine IV 555 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTCATGGTGCTAGTGTTCTGG 0.368000 16 47 0 0 0.000566183 0 0 MYH2 4620 broad.mit.edu 37 17 10440764 10440764 + Silent SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:10440764G>C ENST00000245503.5 - 16 2067 c.1683C>G c.(1681-1683)ggC>ggG p.G561G CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.G561G NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 561 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGGCAGACTTGCCCAGGTGCT 0.517000 7 127 0 0 0.00448238 0 0 DACT1 51339 broad.mit.edu 37 14 59112758 59112758 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr14:59112758G>A ENST00000395153.3 + 4 1453 c.1306G>A c.(1306-1308)Gag>Aag p.E436K DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K|DACT1_ENST00000335867.4_Missense_Mutation_p.E473K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 473 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TGGGACAGGGGAGTCCCCTAA 0.612000 26 68 0 0 0.00395357 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 36 0 0 0.000602214 0 0 VEZT 55591 broad.mit.edu 37 12 95645720 95645720 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:95645720C>A ENST00000436874.1 + 2 146 c.41C>A c.(40-42)tCt>tAt p.S14Y VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 14 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTTCAGAATTCTCCACTTTAC 0.363000 19 58 1.01871e-10 2.85897e-10 0.00121646 1 0 IL26 55801 broad.mit.edu 37 12 68595690 68595690 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:68595690T>G ENST00000229134.4 - 5 515 c.451A>C c.(451-453)Aaa>Caa p.K151Q IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 151 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) CTGATGGCTTTGTAGATTCCT 0.274000 9 37 0 0 0.000442599 0 0 SERBP1 26135 broad.mit.edu 37 1 67889975 67889975 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:67889975T>C ENST00000370995.2 - 5 811 c.726A>G c.(724-726)atA>atG p.I242M SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000370994.4_Intron Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 242 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 AATTATAAGATATTTGTTTCT 0.363000 21 46 0 0 0.00188189 0 0 SMAD1 4086 broad.mit.edu 37 4 146435852 146435852 + Nonsense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:146435852G>A ENST00000515385.1 + 2 629 c.87G>A c.(85-87)tgG>tgA p.W29* SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR Q15797 SMAD1_HUMAN SMAD family member 1 29 MH1. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) AAGAAAAATGGGCAGAGAAAG 0.443000 4 49 0 0 0.000602214 0 0 ARNT 405 broad.mit.edu 37 1 150795676 150795676 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:150795676T>C ENST00000358595.5 - 14 1588 c.1388A>G c.(1387-1389)aAt>aGt p.N463S ARNT_ENST00000515192.1_Missense_Mutation_p.N449S|ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 463 PAC. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) ATACTTCACATTGGTGTTGGT 0.408000 T ETV6 AML 4 52 0 0 0.000602214 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 4 57 0 0 0.000602214 0 0 SPRYD3 84926 broad.mit.edu 37 12 53460181 53460181 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:53460181C>T ENST00000301463.4 - 10 1197 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 371 Glu-rich. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 tcttccccttcctGGTGCAGG 0.572000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 54 0 0 0.000442599 0 0 ZNF728 388523 broad.mit.edu 37 19 23159583 23159583 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:23159583A>T ENST00000594710.1 - 4 701 c.556T>A c.(556-558)Tca>Aca p.S186T NM_001267716.1 NP_001254645.1 zinc finger protein 728 GATAGGTGTGAAAGCATGCAA 0.318000 10 31 0 0 0.000442599 0 0 LGR6 59352 broad.mit.edu 37 1 202249913 202249913 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:202249913T>G ENST00000367278.3 + 6 738 c.649T>G c.(649-651)Ttg>Gtg p.L217V LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 217 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGCAGGCATTTGCATAACAA 0.562000 30 64 0 0 0.00178596 0 0 XCR1 2829 broad.mit.edu 37 3 46062445 46062445 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:46062445A>G ENST00000309285.3 - 2 1351 c.995T>C c.(994-996)tTc>tCc p.F332S XCR1_ENST00000542109.1_Missense_Mutation_p.F332S NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 332 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCCTCAGTAGAAGGAGGCGCC 0.642000 12 5 0 0 0.00185496 0 0 C1orf168 199920 broad.mit.edu 37 1 57257788 57257788 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:57257788C>T ENST00000343433.6 - 2 778 c.698G>A c.(697-699)aGc>aAc p.S233N C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 233 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GCTTGCCGGGCTCCTCTCAGG 0.532000 38 80 0 0 0.000953801 0 0 DMRT3 58524 broad.mit.edu 37 9 990054 990054 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr9:990054A>G ENST00000190165.2 + 2 506 c.468A>G c.(466-468)gaA>gaG p.E156E NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 156 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TGACTGAAGAACGACTTGGAG 0.478000 10 79 0 0 0.000978159 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8388253 8388253 + RNA SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:8388253G>A ENST00000304751.9 + 0 243 FAM86FP_ENST00000427893.2_RNA AGAGGGTGGCGTCCCATGTGA 0.622000 9 28 0 0 0.000442599 0 0 DONSON 29980 broad.mit.edu 37 21 34958441 34958441 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr21:34958441C>T ENST00000453626.1 - 3 453 c.449G>A c.(448-450)aGt>aAt p.S150N DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N Q9NYP3 DONS_HUMAN downstream neighbor of SON 150 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TAACTCAGTACTTTTTGAGGA 0.398000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 39 0 0 0.00448238 0 0 AMY2B 280 broad.mit.edu 37 1 104115755 104115755 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:104115755C>T ENST00000361355.4 + 5 1002 c.386C>T c.(385-387)aCc>aTc p.T129I AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 129 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) ACAAGCAGTACCTGTGGAAGT 0.403000 117 411 0 0 0.00361006 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777690 43777690 + Nonsense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:43777690G>A ENST00000389420.3 - 30 4542 c.4543C>T c.(4543-4545)Cag>Tag p.Q1515* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1515 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding p.Q1515*(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CGGGTGGACTGATCACACATT 0.507000 22 64 0 0 0.00152264 0 0 BRCA1 672 broad.mit.edu 37 17 41228515 41228515 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:41228515C>T ENST00000309486.4 - 12 4613 c.3586G>A c.(3586-3588)Gga>Aga p.G1196R BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1492 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTTTCCACTCCTGGTTCTTTA 0.358000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 17 49 0 0 0.000566183 0 0 ACAD10 80724 broad.mit.edu 37 12 112165809 112165809 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:112165809C>G ENST00000455480.2 + 10 1375 c.1198C>G c.(1198-1200)Ctc>Gtc p.L400V ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 369 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CTGCCCAGGTCTCATCTACAA 0.522000 45 141 0 0 0.00222228 0 0 ZNF224 7767 broad.mit.edu 37 19 44610697 44610697 + Silent SNP T T A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:44610697T>A ENST00000336976.6 + 6 638 c.384T>A c.(382-384)ggT>ggA p.G128G AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 128 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CCAAAGAAGGTGATTTCCCCT 0.433000 10 63 0 0 0.000978159 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507261 71507261 + Missense_Mutation SNP A A G rs111708284 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:71507261A>G ENST00000528685.1 + 3 358 c.358A>G c.(358-360)Aca>Gca p.T120A FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 AGCTGTCCCTACAGGACTCCA 0.627000 3 97 0 0 6.4e-05 0 0 HMGB2 3148 broad.mit.edu 37 4 174254247 174254247 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:174254247T>C ENST00000296503.5 - 3 1142 c.269A>G c.(268-270)aAg>aGg p.K90R HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R P26583 HMGB2_HUMAN high mobility group box 2 90 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.K90R(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) ATTGGGGTCCTTTTTCTTCCC 0.398000 3 166 0 0 6.4e-05 0 0 NCR2 9436 broad.mit.edu 37 6 41309847 41309847 + Missense_Mutation SNP G G A rs149275592 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:41309847G>A ENST00000373083.4 + 4 826 c.604G>A c.(604-606)Gta>Ata p.V202I NCR2_ENST00000373086.3_Missense_Mutation_p.V214I|NCR2_ENST00000373089.5_Missense_Mutation_p.V202I NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 202 cellular defense response integral to plasma membrane transmembrane receptor activity p.V202I(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) TGGACTCCTCGTAGCCAAGAG 0.622000 41 93 0 0 0.00148497 0 0 CBR4 84869 broad.mit.edu 37 4 169927999 169927999 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:169927999G>T ENST00000306193.3 - 3 475 c.307C>A c.(307-309)Cag>Aag p.Q103K CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 103 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) GTATGAAGCTGAGATACCATA 0.368000 7 148 0.000274275 0.000734213 0.00448238 1 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 57 0 0 0.000602214 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 3 111 0 0 0.00024832 0 0 HUS1B 135458 broad.mit.edu 37 6 656505 656505 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:656505G>A ENST00000380907.2 - 1 458 c.440C>T c.(439-441)cCg>cTg p.P147L EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 147 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CAGGCTGGGCGGCAGGCAGTC 0.716000 22 40 0 0 0.00229938 0 0 FBXO8 26269 broad.mit.edu 37 4 175162340 175162340 + Silent SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:175162340G>T ENST00000393674.2 - 4 1348 c.486C>A c.(484-486)atC>atA p.I162I FBXO8_ENST00000503293.1_Silent_p.I121I NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 162 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) AATCATCCAGGATACCCTTGG 0.323000 17 37 6.49762e-13 1.85342e-12 0.00074312 1 0 RBPJL 11317 broad.mit.edu 37 20 43945404 43945404 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr20:43945404C>A ENST00000372741.3 + 12 1441 c.1369C>A c.(1369-1371)Cac>Aac p.H457N RBPJL_ENST00000343694.3_Silent_p.I453I|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 0 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCGCTCCCATCACAATCCCCA 0.697000 30 39 2.36697e-06 6.53735e-06 0.00127121 1 0 PEAR1 375033 broad.mit.edu 37 1 156874633 156874633 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:156874633C>T ENST00000338302.3 + 4 420 c.195C>T c.(193-195)tgC>tgT p.C65C PEAR1_ENST00000292357.7_Silent_p.C65C Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 65 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCATACTTGCCCCCAGCCCA 0.657000 12 54 0 0 0.00136819 0 0 BMP8B 656 broad.mit.edu 37 1 40228830 40228830 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:40228830C>A ENST00000372827.3 - 6 1368 c.993G>T c.(991-993)gaG>gaT p.E331D PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 331 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCACTCCCCCTCACAGTAAT 0.632000 6 83 0.00198382 0.00526999 0.00198382 1 0 DCN 1634 broad.mit.edu 37 12 91550936 91550936 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:91550936C>G ENST00000052754.5 - 5 1069 c.568G>C c.(568-570)Gga>Cga p.G190R DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 190 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TTTTCAATTCCTGAGCTCTTC 0.413000 9 96 0 0 0.000673444 0 0 IFNA13 3447 broad.mit.edu 37 9 21367983 21367983 + Silent SNP C C T rs147549496 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr9:21367983C>T ENST00000449498.1 - 1 92 c.27G>A c.(25-27)ctG>ctA p.L9L NM_006900.3 NP_008831.3 P01562 IFNA1_HUMAN interferon, alpha 13 8 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) CCAGGGCCATCAGTAAAGCAA 0.547000 78 49 0 0 0.00361006 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771407 90771407 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr15:90771407A>T ENST00000411539.2 + 14 2306 c.2046A>T c.(2044-2046)caA>caT p.Q682H SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TGGCAGACCAAACAGATGAGG 0.607000 5 17 0 0 0.00116845 0 0 CBR4 84869 broad.mit.edu 37 4 169928000 169928000 + Silent SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr4:169928000A>T ENST00000306193.3 - 3 474 c.306T>A c.(304-306)tcT>tcA p.S102S CBR4_ENST00000504480.1_Silent_p.S102S NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 102 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) TATGAAGCTGAGATACCATAT 0.368000 8 146 0 0 0.00448238 0 0 DNAH6 1768 broad.mit.edu 37 2 84784958 84784958 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr2:84784958A>G ENST00000389394.3 + 11 1839 c.1702A>G c.(1702-1704)Att>Gtt p.I568V DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V|DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 568 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 CAGCCCTTATATTAACAACAA 0.368000 21 79 0 0 0.00152264 0 0 RIMS4 140730 broad.mit.edu 37 20 43386376 43386376 + Missense_Mutation SNP T T A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr20:43386376T>A ENST00000372851.3 - 4 452 c.386A>T c.(385-387)cAg>cTg p.Q129L RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 129 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CACCTCCAACTGACCGTTCCG 0.592000 73 68 0 0 0.00361006 0 0 NOL3 8996 broad.mit.edu 37 16 67208838 67208838 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr16:67208838G>A ENST00000432069.2 + 5 1182 c.610G>A c.(610-612)Gag>Aag p.E204K NOL3_ENST00000568146.1_Silent_p.T200T|NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 0 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGAAAGGGACGAGTCCGAAGG 0.657000 22 36 0 0 0.00278032 0 0 DCAF7 10238 broad.mit.edu 37 17 61661062 61661062 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:61661062G>A ENST00000310827.4 + 6 944 c.727G>A c.(727-729)Gat>Aat p.D243N DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 243 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 CATGGCCATGGATGGAATGGA 0.537000 13 38 0 0 0.00136819 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917064 32917064 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:32917064C>T ENST00000374843.4 - 4 850 c.765G>A c.(763-765)cgG>cgA p.R255R HLA-DMA_ENST00000395305.3_Silent_p.R160R|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.R221R|HLA-DMA_ENST00000464392.1_5'UTR NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 255 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 AGCAAGGCTTCCGGAAGTAGA 0.567000 20 44 0 0 0.00121646 0 0 DNAH10 196385 broad.mit.edu 37 12 124416356 124416356 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:124416356G>T ENST00000409039.3 + 74 12761 c.12736G>T c.(12736-12738)Gtg>Ttg p.V4246L DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4246 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAACAAGCTTGTGGTCCGGAT 0.542000 33 84 7.72975e-29 2.26046e-28 0.00283554 1 0 PLXND1 23129 broad.mit.edu 37 3 129324754 129324754 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:129324754C>T ENST00000393239.1 - 1 907 c.729G>A c.(727-729)ctG>ctA p.L243L PLXND1_ENST00000324093.4_Silent_p.L243L Q9Y4D7 PLXD1_HUMAN plexin D1 243 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CGCGCGTGTCCAGGGAGCGGA 0.647000 12 18 0 0 0.00185496 0 0 CHST6 4166 broad.mit.edu 37 16 75513153 75513153 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr16:75513153C>T ENST00000332272.4 - 3 753 c.574G>A c.(574-576)Gcg>Acg p.A192T RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A192T NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 192 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGGTTGAGCGCGGGGTCGCTG 0.692000 13 49 0 0 0.00185496 0 0 TRAF5 7188 broad.mit.edu 37 1 211534067 211534067 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr1:211534067T>C ENST00000261464.5 + 6 621 c.567T>C c.(565-567)ccT>ccC p.P189P TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Silent_p.P189P NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 189 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ACTTGTGTCCTGAATACCCAG 0.373000 3 40 0 0 0.00024832 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018469 101018469 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:101018469C>T ENST00000537247.1 + 10 2528 c.1574C>T c.(1573-1575)cCg>cTg p.P525L GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 629 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CAAACTGCACCGAAGTCAGCA 0.527000 20 56 0 0 0.00121646 0 0 TRPV6 55503 broad.mit.edu 37 7 142569486 142569486 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:142569486C>T ENST00000359396.3 - 15 2397 c.2152G>A c.(2152-2154)Ggg>Agg p.G718R NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 718 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CAGCTCTCCCCGTCCTCCAGA 0.527000 26 76 0 0 0.000878237 0 0 CNTRL 11064 broad.mit.edu 37 9 123904513 123904513 + Silent SNP A A C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr9:123904513A>C ENST00000373855.1 + 19 3096 c.2836A>C c.(2836-2838)Aga>Cga p.R946R CNTRL_ENST00000373850.1_Silent_p.R394R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000238341.5_Silent_p.R946R Q7Z7A1 CNTRL_HUMAN centriolin 946 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGAGAAGGAGAGAATTCTGGC 0.438000 8 28 0 0 0.00307968 0 0 RPH3A 22895 broad.mit.edu 37 12 113307745 113307745 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr12:113307745G>A ENST00000389385.4 + 10 1194 c.697G>A c.(697-699)Gtg>Atg p.V233M RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 233 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGGGCCTCCCGTGCGCAGGGC 0.612000 24 63 0 0 0.00332997 0 0 TTN 7273 broad.mit.edu 37 2 179595727 179595727 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr2:179595727C>T ENST00000589042.1 - 60 17889 c.17665G>A c.(17665-17667)Gat>Aat p.D5889N TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5572 Ig-like 40. 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) TCTCCACTATCTTTCTTTTCT 0.378000 87 179 0 0 0.00361006 0 0 CHST4 10164 broad.mit.edu 37 16 71571103 71571103 + Missense_Mutation SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:71571103G>C ENST00000338482.5 + 3 866 c.523G>C c.(523-525)Gtg>Ctg p.V175L RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V175L|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.V175L Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 175 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CAGCCACGTGGTGCTCAAGGA 0.617000 3 68 0 0 0.000602214 0 0 ZNF318 24149 broad.mit.edu 37 6 43305058 43305058 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:43305058A>G ENST00000361428.2 - 10 6755 c.6678T>C c.(6676-6678)gaT>gaC p.D2226D ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2226 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CACTGTCATCATCTACTTGCA 0.493000 16 37 0 0 0.00400662 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998716 120998716 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:120998716A>G ENST00000273666.6 + 19 2294 c.2023A>G c.(2023-2025)Agc>Ggc p.S675G STXBP5L_ENST00000471454.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S675G|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S675G NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 675 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGTACTGTTAAGCATGGGGAC 0.398000 27 46 0 0 0.000878237 0 0 CIITA 4261 broad.mit.edu 37 16 11016081 11016081 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:11016081G>A ENST00000324288.8 + 17 3340 c.3207G>A c.(3205-3207)ccG>ccA p.P1069P CIITA_ENST00000381835.5_Silent_p.P485P NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1069 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GTGTGCTTCCGGACATGGTGT 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 36 138 0 0 0.00111076 0 0 SMAD4 4089 broad.mit.edu 37 18 48603080 48603080 + Nonsense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr18:48603080C>T ENST00000342988.3 + 11 1919 c.1381C>T c.(1381-1383)Cag>Tag p.Q461* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q365*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q461* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 461 MH2.|Poly-Ala. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) AGCAGCTGCCCAGGCAGCAGC 0.468000 12 23 0 0 0.00136819 0 0 CFHR4 10877 broad.mit.edu 37 1 196876014 196876014 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:196876014G>A ENST00000367416.2 + 4 597 c.460G>A c.(460-462)Gag>Aag p.E154K CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GCCTGTTTTTGAGAATTCCAG 0.373000 8 23 0 0 0.000442599 0 0 RGAG4 340526 broad.mit.edu 37 X 71350448 71350448 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chrX:71350448T>C ENST00000545866.1 - 1 1310 c.943A>G c.(943-945)Aag>Gag p.K315E RGAG4_ENST00000479991.1_Missense_Mutation_p.K315E|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 315 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GGGATAGGCTTGGGAACGCGC 0.468000 3 87 0 0 6.4e-05 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935540 151935540 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chrX:151935540G>A ENST00000393902.3 - 3 1194 c.627C>T c.(625-627)atC>atT p.I209I MAGEA3_ENST00000370278.3_Silent_p.I209I P43357 MAGA3_HUMAN melanoma antigen family A, 3 209 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTCTTGCGATTATGGCCA 0.562000 13 169 0 0 0.00316338 0 0 CHST6 4166 broad.mit.edu 37 16 75513153 75513153 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:75513153C>T ENST00000332272.4 - 3 753 c.574G>A c.(574-576)Gcg>Acg p.A192T CHST6_ENST00000390664.2_Missense_Mutation_p.A192T|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 192 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGGTTGAGCGCGGGGTCGCTG 0.692000 13 49 0 0 0.00185496 0 0 LTK 4058 broad.mit.edu 37 15 41797503 41797503 + Splice_Site SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr15:41797503C>T ENST00000263800.6 - 15 1924 c.1827_splice c.e15-1 p.G610_splice LTK_ENST00000453182.2_Splice_Site_p.G480_splice|LTK_ENST00000561619.1_Splice_Site_p.G308_splice|LTK_ENST00000355166.5_Splice_Site_p.G549_splice NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 610 Protein kinase. apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GATGGCTGGCCCTGGGTCAGG 0.597000 TSP Lung(18;0.14) 5 44 0 0 0.000602214 0 0 LILRB1 10859 broad.mit.edu 37 19 55144664 55144664 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:55144664C>T ENST00000396331.1 + 8 1513 c.1156C>T c.(1156-1158)Cct>Tct p.P386S LILRB1_ENST00000427581.2_Missense_Mutation_p.P422S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P386S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P386S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P386S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P386S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P386S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P386S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P386S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 386 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCCATGGGTCCTGTGACCTC 0.567000 HNSCC(37;0.09) 32 105 0 0 0.00178596 0 0 KIF19 124602 broad.mit.edu 37 17 72341019 72341019 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:72341019C>T ENST00000389916.4 + 7 840 c.702C>T c.(700-702)gtC>gtT p.V234V NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 234 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCAGCCGGGTCAAGAACATCT 0.697000 10 26 0 0 0.000673444 0 0 ZNF728 388523 broad.mit.edu 37 19 23159583 23159583 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:23159583A>T ENST00000594710.1 - 4 701 c.556T>A c.(556-558)Tca>Aca p.S186T NM_001267716.1 NP_001254645.1 zinc finger protein 728 GATAGGTGTGAAAGCATGCAA 0.318000 10 31 0 0 0.000442599 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158957 18158957 + Missense_Mutation SNP G G A rs145864519 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:18158957G>A ENST00000396275.2 + 3 569 c.208G>A c.(208-210)Gcg>Acg p.A70T NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 70 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CAACCTGGTCGCGGCCGACTT 0.567000 44 76 0 0 0.0025221 0 0 TRIM51 84767 broad.mit.edu 37 11 55653151 55653151 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:55653151C>T ENST00000449290.2 + 2 339 c.247C>T c.(247-249)Cgg>Tgg p.R83W NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 83 intracellular zinc ion binding AGCCAGCCTCCGGCAATTCCT 0.483000 7 14 0 0 0.00198382 0 0 DOT1L 84444 broad.mit.edu 37 19 2214510 2214510 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:2214510C>T ENST00000398665.3 + 19 1874 c.1838C>T c.(1837-1839)aCg>aTg p.T613M DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 613 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACTGGGCCACGCTGTCGCTG 0.647000 14 25 0 0 0.00316338 0 0 ARNT 405 broad.mit.edu 37 1 150795676 150795676 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:150795676T>C ENST00000358595.5 - 14 1588 c.1388A>G c.(1387-1389)aAt>aGt p.N463S ARNT_ENST00000505755.1_Missense_Mutation_p.N448S|ARNT_ENST00000354396.2_Missense_Mutation_p.N463S|ARNT_ENST00000515192.1_Missense_Mutation_p.N449S NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 463 PAC. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) ATACTTCACATTGGTGTTGGT 0.408000 T ETV6 AML 4 52 0 0 0.000602214 0 0 ZNF124 7678 broad.mit.edu 37 1 247320151 247320151 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:247320151C>G ENST00000340684.6 - 4 725 c.587G>C c.(586-588)gGt>gCt p.G196A ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.G258A NM_003431.2 NP_003422.2 Q15973 ZN124_HUMAN zinc finger protein 124 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) GGGTTCTTCACCAGCATGAGC 0.438000 32 68 0 0 0.00178596 0 0 TECPR2 9895 broad.mit.edu 37 14 102874944 102874944 + Silent SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr14:102874944G>C ENST00000359520.7 + 4 694 c.468G>C c.(466-468)ctG>ctC p.L156L TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.L156L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 156 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ATTCTTCTCTGGATCTAGACC 0.338000 19 48 0 0 0.00121646 0 0 PTGR2 145482 broad.mit.edu 37 14 74327274 74327274 + Nonsense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr14:74327274C>T ENST00000555661.1 + 3 215 c.70C>T c.(70-72)Cga>Tga p.R24* PTGR2_ENST00000267568.4_Nonsense_Mutation_p.R24*|PTGR2_ENST00000554885.1_5'UTR|RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000553326.1_3'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.R24* Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 24 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 AGAGAATTTCCGAATGGAAGA 0.284000 22 38 0 0 0.00278032 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963629 88963629 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:88963629C>G ENST00000333190.4 + 4 1942 c.1333C>G c.(1333-1335)Cac>Gac p.H445D NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 445 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACCTTTTCTCCACGTTCAAAG 0.398000 HNSCC(36;0.09) 3 59 0 0 0.00024832 0 0 FSIP2 401024 broad.mit.edu 37 2 186670771 186670771 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:186670771G>A ENST00000343098.5 + 17 17005 c.17005G>A c.(17005-17007)Gat>Aat p.D5669N FSIP2_ENST00000424728.1_Missense_Mutation_p.D5580N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AGGGAAAGATGATGAGATATA 0.274000 38 80 0 0 0.00148497 0 0 MUC17 140453 broad.mit.edu 37 7 100683020 100683020 + Missense_Mutation SNP G G C rs150509322 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:100683020G>C ENST00000306151.4 + 3 8387 c.8323G>C c.(8323-8325)Gct>Cct p.A2775P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2775 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCAACAACTGCTGTTGACAC 0.488000 4 514 0 0 0.000602214 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 84 0 0 6.4e-05 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887399 155887399 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:155887399T>G ENST00000368320.3 - 11 1356 c.1331A>C c.(1330-1332)cAg>cCg p.Q444P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P Q7Z7F0 K0907_HUMAN KIAA0907 444 Pro-rich. p.Q444P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggGCCAGC 0.562000 4 13 0 0 0.00024832 0 0 SOAT2 8435 broad.mit.edu 37 12 53509227 53509227 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:53509227C>T ENST00000301466.3 + 6 557 c.497C>T c.(496-498)gCg>gTg p.A166V NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 166 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 CTGCCATTGGCGCTGGTGACC 0.612000 14 29 0 0 0.00400662 0 0 ZNF525 170958 broad.mit.edu 37 19 53884457 53884457 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:53884457C>T ENST00000467003.1 + 4 718 c.517C>T c.(517-519)Cgc>Tgc p.R173C ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R209C zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 ACAGGAAGTACGCATGAGAGA 0.348000 23 55 0 0 0.00278032 0 0 PRMT6 55170 broad.mit.edu 37 1 107600207 107600207 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:107600207C>G ENST00000361318.5 + 1 941 c.693C>G c.(691-693)atC>atG p.I231M PRMT6_ENST00000370078.1_Missense_Mutation_p.I290M NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 290 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GCTTTGCCATCTGGTTCCAGG 0.662000 15 36 0 0 0.00316338 0 0 WDR60 55112 broad.mit.edu 37 7 158695196 158695196 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:158695196A>T ENST00000407559.3 + 10 1425 c.1267A>T c.(1267-1269)Att>Ttt p.I423F NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 423 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TCAAAGAGCTATTAATGCAGA 0.368000 19 67 0 0 0.000958276 0 0 NCOA1 8648 broad.mit.edu 37 2 24929972 24929972 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:24929972A>G ENST00000405141.1 + 14 2344 c.1633A>G c.(1633-1635)Aat>Gat p.N545D NCOA1_ENST00000348332.3_Missense_Mutation_p.N545D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N545D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N545D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N545D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N394D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N545D Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 545 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGGTATGAATGAAGGACC 0.423000 T PAX3 alveolar rhadomyosarcoma 9 38 0 0 0.00448238 0 0 DDC 1644 broad.mit.edu 37 7 50605594 50605594 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:50605594C>G ENST00000444124.2 - 4 599 c.399G>C c.(397-399)ttG>ttC p.L133F DDC_ENST00000431062.1_Missense_Mutation_p.L133F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.L133F|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.L133F|DDC_ENST00000489162.1_5'UTR NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 133 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CTTTCTCATTCAAAAATGCCT 0.572000 22 64 0 0 0.00152264 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256564 140256564 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr5:140256564G>A ENST00000398631.2 + 1 1507 c.1507G>A c.(1507-1509)Gca>Aca p.A503T PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGCACGCACTGTCGAG 0.677000 8 87 0 0 0.000442599 0 0 DRD5 1816 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 4 50 0 0 0.00024832 0 0 CDYL2 124359 broad.mit.edu 37 16 80718469 80718469 + Silent SNP G G A rs149647231 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:80718469G>A ENST00000299564.8 - 2 737 c.582C>T c.(580-582)gaC>gaT p.D194D CDYL2_ENST00000563890.1_Silent_p.D194D|CDYL2_ENST00000566173.1_Silent_p.D194D|CDYL2_ENST00000562812.1_Silent_p.D194D NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 194 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CGTGATTCACGTCACATTCAC 0.527000 15 59 0 0 0.000566183 0 0 HDAC4 9759 broad.mit.edu 37 2 239988450 239988450 + Nonsense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:239988450C>A ENST00000345617.3 - 24 3747 c.2956G>T c.(2956-2958)Gaa>Taa p.E986* HDAC4_ENST00000543185.1_Nonsense_Mutation_p.E570* NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 986 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACACATGCTTCCGAGGCGTCG 0.642000 32 45 6.00712e-18 2.59954e-17 0.0024448 1 0 BRCA1 672 broad.mit.edu 37 17 41228515 41228515 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:41228515C>T ENST00000309486.4 - 12 4613 c.3586G>A c.(3586-3588)Gga>Aga p.G1196R BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.G309R|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1445R|BRCA1_ENST00000491747.2_Missense_Mutation_p.G388R|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1513R|BRCA1_ENST00000468300.1_Missense_Mutation_p.G388R|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.G350R|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1492R NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1492 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTTTCCACTCCTGGTTCTTTA 0.358000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 17 49 0 0 0.000566183 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 53 0 0 0.00024832 0 0 ZNF708 7562 broad.mit.edu 37 19 21476934 21476934 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:21476934T>G ENST00000356929.3 - 4 1031 c.834A>C c.(832-834)aaA>aaC p.K278N NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 ATTTGTAGGGTTTCTCTCCAG 0.373000 23 54 0 0 0.00395357 0 0 FLG 2312 broad.mit.edu 37 1 152279921 152279921 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:152279921A>G ENST00000368799.1 - 3 7476 c.7441T>C c.(7441-7443)Ttg>Ctg p.L2481L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2481 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTATCTACCAATTGCTCGTAG 0.567000 Ichthyosis 5 534 0 0 0.000602214 0 0 ACAD10 80724 broad.mit.edu 37 12 112165809 112165809 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:112165809C>G ENST00000455480.2 + 10 1375 c.1198C>G c.(1198-1200)Ctc>Gtc p.L400V ACAD10_ENST00000549590.1_Missense_Mutation_p.L369V|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.L369V|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 369 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CTGCCCAGGTCTCATCTACAA 0.522000 45 141 0 0 0.00222228 0 0 HSD3B1 3283 broad.mit.edu 37 1 120050217 120050217 + Missense_Mutation SNP G G A rs141328314 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:120050217G>A ENST00000235547.6 + 2 263 c.124G>A c.(124-126)Gga>Aga p.G42R HSD3B1_ENST00000369413.3_Missense_Mutation_p.G40R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40R NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 40 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.G40I(1)|p.G40R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CAAGGCCTTCGGACCAGAATT 0.507000 23 71 0 0 0.00395357 0 0 MPZL3 196264 broad.mit.edu 37 11 118107898 118107898 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:118107898T>C ENST00000278949.4 - 3 373 c.318A>G c.(316-318)gtA>gtG p.V106V MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Silent_p.V94V Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 106 Ig-like V-type. cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCCCTTTGTATACATTTCCAA 0.428000 61 71 0 0 0.00361006 0 0 CBR4 84869 broad.mit.edu 37 4 169927998 169927998 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:169927998T>C ENST00000306193.3 - 3 476 c.308A>G c.(307-309)cAg>cGg p.Q103R CBR4_ENST00000504480.1_Missense_Mutation_p.Q103R NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 103 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) AGTATGAAGCTGAGATACCAT 0.368000 6 151 0 0 0.00307968 0 0 NAA15 80155 broad.mit.edu 37 4 140265372 140265372 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:140265372T>C ENST00000296543.5 + 6 893 c.570T>C c.(568-570)agT>agC p.S190S NAA15_ENST00000398947.1_Silent_p.S190S|NAA15_ENST00000480277.2_3'UTR NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 190 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 ATGAATATAGTGAACTACTCT 0.333000 3 43 0 0 6.4e-05 0 0 DPPA2 151871 broad.mit.edu 37 3 109028057 109028057 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:109028057C>T ENST00000478945.1 - 4 548 c.302G>A c.(301-303)cGg>cAg p.R101Q NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 101 SAP. nucleus nucleic acid binding p.R101L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACACCAGTCCCGCAAAGTGTC 0.453000 42 182 0 0 0.00195071 0 0 OR52E2 119678 broad.mit.edu 37 11 5080067 5080067 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:5080067C>T ENST00000321522.2 - 1 790 c.791G>A c.(790-792)cGc>cAc p.R264H NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 264 R -> C (in dbSNP:rs2500052). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCGGCCAAAGCGATGAGTCAT 0.473000 6 75 0 0 0.00116845 0 0 MUC17 140453 broad.mit.edu 37 7 100677784 100677784 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:100677784T>C ENST00000306151.4 + 3 3151 c.3087T>C c.(3085-3087)ggT>ggC p.G1029G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1029 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGCTGAAGGTACCAGCATGC 0.502000 178 464 0 0 0.00361006 0 0 BIRC5 332 broad.mit.edu 37 17 76219780 76219780 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:76219780C>T ENST00000600484.1 - 5 499 c.500G>A c.(499-501)aGc>aAc p.S167N BIRC5_ENST00000374948.2_3'UTR|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000301633.4_3'UTR TTCAACTGTGCTCTTGTTTTG 0.493000 3 5 0 0 6.4e-05 0 0 OR52N1 79473 broad.mit.edu 37 11 5809698 5809698 + Missense_Mutation SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:5809698G>C ENST00000317078.1 - 1 348 c.349C>G c.(349-351)Ctc>Gtc p.L117V TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATGAGCATGAGCACCCCAGAC 0.498000 22 77 0 0 0.00332997 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77310547 77310547 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr15:77310547G>A ENST00000558012.1 + 2 584 c.95G>A c.(94-96)gGc>gAc p.G32D PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G32D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G31D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G32D NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 32 FCH. cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CTTCTGGATGGCAGGAAGATG 0.627000 4 6 0 0 0.00024832 0 0 COX7A2 1347 broad.mit.edu 37 6 75947582 75947582 + Nonstop_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:75947582T>C ENST00000472311.2 - 3 281 c.231A>G c.(229-231)tgA>tgG p.*77W COX7A2_ENST00000370089.2_3'UTR|COX7A2_ENST00000460985.1_3'UTR|COX7A2_ENST00000230459.4_3'UTR|COX7A2_ENST00000370081.2_3'UTR|COX7A2_ENST00000509698.1_3'UTR P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 CGGTTATTTATCAGATTACTG 0.418000 6 15 0 0 0.00116845 0 0 RFX6 222546 broad.mit.edu 37 6 117237221 117237221 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:117237221C>A ENST00000332958.2 + 8 847 c.831C>A c.(829-831)gaC>gaA p.D277E RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 277 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GTATCCTGGACAATGCAATTA 0.343000 13 52 5.50884e-06 2.20805e-05 0.00136819 1 0 T 6862 broad.mit.edu 37 6 166571825 166571825 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:166571825G>T ENST00000296946.2 - 9 1754 c.1286C>A c.(1285-1287)cCt>cAt p.P429H T_ENST00000366871.3_Missense_Mutation_p.P371H NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 429 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGGCGACACAGGTGTCCATGA 0.612000 Chordoma, Familial Clustering of 14 158 1.05317e-09 4.36441e-09 0.00244969 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074702 76074702 + RNA SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr15:76074702G>C ENST00000395215.3 + 0 774 CCGGTGGCAGGAGAGGATGTG 0.488000 4 120 0 0 0.000602214 0 0 BTLA 151888 broad.mit.edu 37 3 112198458 112198458 + Nonsense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:112198458C>A ENST00000334529.5 - 2 449 c.247G>T c.(247-249)Gaa>Taa p.E83* BTLA_ENST00000383680.4_Nonsense_Mutation_p.E83* NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 83 Ig-like V-type. T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TGTCTATCTTCAAGTTTTACA 0.408000 21 96 1.50039e-11 6.32492e-11 0.00188189 1 0 KCNMB1 3779 broad.mit.edu 37 5 169810824 169810824 + Silent SNP C C A rs143181866 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr5:169810824C>A ENST00000274629.4 - 3 607 c.165G>T c.(163-165)ctG>ctT p.L55L KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Silent_p.L55L|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 55 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TGGTCTCAATCAGGTGGCACT 0.567000 8 16 5.18039e-06 2.09356e-05 0.00307968 1 0 JADE1 79960 broad.mit.edu 37 4 129776938 129776938 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:129776938C>T ENST00000226319.6 + 7 1130 c.850C>T c.(850-852)Ctg>Ttg p.L284L PHF17_ENST00000413543.2_Silent_p.L284L|PHF17_ENST00000511647.1_Silent_p.L284L|PHF17_ENST00000452328.2_Silent_p.L272L|PHF17_ENST00000512960.1_Silent_p.L284L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 284 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TAGCTGTGCTCTGTGGATCCC 0.512000 8 32 0 0 0.00307968 0 0 LCNL1 401562 broad.mit.edu 37 9 139879316 139879316 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr9:139879316C>T ENST00000408973.2 + 3 942 c.348C>T c.(346-348)ttC>ttT p.F116F LCNL1_ENST00000432827.1_Intron NM_207510.3 NP_997393.3 Q6ZST4 LCNL1_HUMAN lipocalin-like 1 116 binding ACCCCCGCTTCGGGTCTGGGA 0.692000 4 1 0 0 0.00024832 0 0 ODF2 4957 broad.mit.edu 37 9 131233667 131233667 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr9:131233667C>T ENST00000303890.5 + 8 1014 c.429C>T c.(427-429)caC>caT p.H143H RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000351030.3_Silent_p.H162H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Silent_p.H167H|ODF2_ENST00000372814.3_Silent_p.H211H|ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000434106.2_Silent_p.H167H|ODF2_ENST00000372807.5_Silent_p.H162H NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 167 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AGGTGGCCCACGAACTGGCTG 0.577000 32 41 0 0 0.00209593 0 0 LOC653786 653786 broad.mit.edu 37 16 22588015 22588015 + RNA SNP A A G rs460493 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:22588015A>G ENST00000550753.1 + 0 2490 NR_003676.2 TGGCCTGAGCACATCGTCCTG 0.557000 4 110 0 0 0.000978159 0 0 ZRSR2 8233 broad.mit.edu 37 X 15809058 15809058 + Splice_Site SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chrX:15809058C>A ENST00000307771.7 + 2 67 c.41_splice c.e2-1 p.H15_splice ZRSR2_ENST00000380308.3_Splice_Site_p.H15_splice|ZRSR2_ENST00000468028.1_3'UTR NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 15 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) ATCTTCCAGCCACAAAAAGTA 0.512000 """F, S, Mis""" """MDS, CLL""" 12 18 3.07112e-06 1.25148e-05 0.000978159 1 0 ANO8 57719 broad.mit.edu 37 19 17436103 17436103 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:17436103G>A ENST00000159087.4 - 17 2912 c.2754C>T c.(2752-2754)gcC>gcT p.A918A NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 918 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GCTCCCGCCGGGCATGGTGCT 0.697000 15 32 0 0 0.000566183 0 0 HTR1F 3355 broad.mit.edu 37 3 88040372 88040372 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:88040372C>T ENST00000319595.4 + 1 527 c.473C>T c.(472-474)cCt>cTt p.P158L NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 158 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCTATGCCTCCTCTATTCTGG 0.408000 23 23 0 0 0.00188189 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 3 49 0 0 6.4e-05 0 0 IGHM 3507 broad.mit.edu 37 14 106320515 106320515 + RNA SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr14:106320515G>A ENST00000390559.2 - 0 1294 TTTACCGGTGGACTTGTCCAC 0.642000 6 94 0 0 0.00198382 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 3 57 0 0 6.4e-05 0 0 BCAS3 54828 broad.mit.edu 37 17 59115269 59115269 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:59115269A>G ENST00000589222.1 + 18 1850 c.1782A>G c.(1780-1782)gtA>gtG p.V594V BCAS3_ENST00000407086.3_Silent_p.V594V|BCAS3_ENST00000408905.3_Silent_p.V594V|BCAS3_ENST00000390652.5_Silent_p.V609V|BCAS3_ENST00000585744.1_Silent_p.V380V|BCAS3_ENST00000588462.1_Silent_p.V609V|BCAS3_ENST00000588874.1_Silent_p.V365V|RP11-264B14.1_ENST00000588604.1_RNA Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 609 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AACAAGTTGTAGTTGAGTCCC 0.428000 4 267 0 0 0.00024832 0 0 C1orf168 199920 broad.mit.edu 37 1 57257788 57257788 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:57257788C>T ENST00000343433.6 - 2 778 c.698G>A c.(697-699)aGc>aAc p.S233N C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 233 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GCTTGCCGGGCTCCTCTCAGG 0.532000 38 80 0 0 0.000953801 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347632 38347632 + Missense_Mutation SNP C C T rs142344011 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:38347632C>T ENST00000273173.4 + 1 206 c.115C>T c.(115-117)Cgc>Tgc p.R39C SLC22A14_ENST00000448498.1_Missense_Mutation_p.R39C NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 39 integral to plasma membrane organic cation transmembrane transporter activity p.R39C(1) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GATGCTGTTACGCAGATTGAG 0.537000 10 80 0 0 0.000673444 0 0 CPNE4 131034 broad.mit.edu 37 3 131254048 131254048 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:131254048T>C ENST00000512055.1 - 20 3791 c.1665A>G c.(1663-1665)ctA>ctG p.L555L CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000502818.1_Silent_p.L573L|CPNE4_ENST00000429747.1_Silent_p.L555L|CPNE4_ENST00000512332.1_Silent_p.L573L|CPNE4_ENST00000511604.1_Silent_p.L555L Q96A23 CPNE4_HUMAN copine IV 555 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTCATGGTGCTAGTGTTCTGG 0.368000 16 47 0 0 0.000566183 0 0 MYH2 4620 broad.mit.edu 37 17 10440764 10440764 + Silent SNP G G C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:10440764G>C ENST00000245503.5 - 16 2067 c.1683C>G c.(1681-1683)ggC>ggG p.G561G CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.G561G|MYH2_ENST00000532183.1_Silent_p.G561G|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 561 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGGCAGACTTGCCCAGGTGCT 0.517000 7 127 0 0 0.00448238 0 0 DACT1 51339 broad.mit.edu 37 14 59112758 59112758 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr14:59112758G>A ENST00000395153.3 + 4 1453 c.1306G>A c.(1306-1308)Gag>Aag p.E436K DACT1_ENST00000335867.4_Missense_Mutation_p.E473K|DACT1_ENST00000556859.1_Missense_Mutation_p.E192K|DACT1_ENST00000395151.3_Missense_Mutation_p.E192K|DACT1_ENST00000541264.2_Missense_Mutation_p.E192K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 473 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TGGGACAGGGGAGTCCCCTAA 0.612000 26 68 0 0 0.00395357 0 0 VEZT 55591 broad.mit.edu 37 12 95645720 95645720 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:95645720C>A ENST00000436874.1 + 2 146 c.41C>A c.(40-42)tCt>tAt p.S14Y VEZT_ENST00000356859.4_Intron|VEZT_ENST00000261219.6_5'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 14 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTTCAGAATTCTCCACTTTAC 0.363000 19 58 1.01871e-10 4.2577e-10 0.00121646 1 0 IL26 55801 broad.mit.edu 37 12 68595690 68595690 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:68595690T>G ENST00000229134.4 - 5 515 c.451A>C c.(451-453)Aaa>Caa p.K151Q IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 151 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) CTGATGGCTTTGTAGATTCCT 0.274000 9 37 0 0 0.000442599 0 0 SERBP1 26135 broad.mit.edu 37 1 67889975 67889975 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:67889975T>C ENST00000370995.2 - 5 811 c.726A>G c.(724-726)atA>atG p.I242M SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000370990.5_Missense_Mutation_p.I236M|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 242 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 AATTATAAGATATTTGTTTCT 0.363000 21 46 0 0 0.00188189 0 0 SMAD1 4086 broad.mit.edu 37 4 146435852 146435852 + Nonsense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:146435852G>A ENST00000515385.1 + 2 629 c.87G>A c.(85-87)tgG>tgA p.W29* SMAD1_ENST00000394092.2_Nonsense_Mutation_p.W29*|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.W29*|SMAD1_ENST00000515527.1_3'UTR Q15797 SMAD1_HUMAN SMAD family member 1 29 MH1. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) AAGAAAAATGGGCAGAGAAAG 0.443000 4 49 0 0 0.000602214 0 0 OR51B2 79345 broad.mit.edu 37 11 5345445 5345445 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr11:5345445G>A ENST00000328813.2 - 1 137 c.83C>T c.(82-84)cCc>cTc p.P28L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P28L(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCAAAGAAGGGGATGGAGAT 0.502000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 37 0 0 0.00136819 0 0 SPRYD3 84926 broad.mit.edu 37 12 53460181 53460181 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:53460181C>T ENST00000301463.4 - 10 1197 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K SPRYD3_ENST00000547837.1_Missense_Mutation_p.E408K NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 371 Glu-rich. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 tcttccccttcctGGTGCAGG 0.572000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 54 0 0 0.000442599 0 0 KIF17 57576 broad.mit.edu 37 1 21013938 21013938 + Silent SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:21013938G>A ENST00000247986.2 - 8 2191 c.1881C>T c.(1879-1881)tcC>tcT p.S627S KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Silent_p.S527S|KIF17_ENST00000400463.3_Silent_p.S627S Q9P2E2 KIF17_HUMAN kinesin family member 17 627 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCACGGTGGAGGAGAGTCTGG 0.637000 34 72 0 0 0.00428921 0 0 LGR6 59352 broad.mit.edu 37 1 202249913 202249913 + Missense_Mutation SNP T T G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:202249913T>G ENST00000367278.3 + 6 738 c.649T>G c.(649-651)Ttg>Gtg p.L217V LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.L165V|LGR6_ENST00000308543.3_3'UTR NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 217 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGCAGGCATTTGCATAACAA 0.562000 30 64 0 0 0.00178596 0 0 XCR1 2829 broad.mit.edu 37 3 46062445 46062445 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:46062445A>G ENST00000309285.3 - 2 1351 c.995T>C c.(994-996)tTc>tCc p.F332S XCR1_ENST00000542109.1_Missense_Mutation_p.F332S NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 332 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCCTCAGTAGAAGGAGGCGCC 0.642000 12 5 0 0 0.00185496 0 0 MCM3AP 8888 broad.mit.edu 37 21 47660924 47660924 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr21:47660924T>C ENST00000397708.1 - 27 5688 c.5434A>G c.(5434-5436)Ata>Gta p.I1812V MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.I1812V|MCM3AP-AS1_ENST00000590829.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1812 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAAGGCTTTATTGCCAAACTG 0.388000 46 86 0 0 0.00361006 0 0 DMRT3 58524 broad.mit.edu 37 9 990054 990054 + Silent SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr9:990054A>G ENST00000190165.2 + 2 506 c.468A>G c.(466-468)gaA>gaG p.E156E NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 156 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TGACTGAAGAACGACTTGGAG 0.478000 10 79 0 0 0.000978159 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8388253 8388253 + RNA SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:8388253G>A ENST00000304751.9 + 0 243 FAM86FP_ENST00000427893.2_RNA AGAGGGTGGCGTCCCATGTGA 0.622000 9 28 0 0 0.000442599 0 0 DONSON 29980 broad.mit.edu 37 21 34958441 34958441 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr21:34958441C>T ENST00000453626.1 - 3 453 c.449G>A c.(448-450)aGt>aAt p.S150N DONSON_ENST00000432378.1_Missense_Mutation_p.S150N|AP000304.12_ENST00000429238.1_Silent_p.K111K|DONSON_ENST00000303071.5_Missense_Mutation_p.S150N|DONSON_ENST00000303113.6_Missense_Mutation_p.S150N Q9NYP3 DONS_HUMAN downstream neighbor of SON 150 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TAACTCAGTACTTTTTGAGGA 0.398000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 39 0 0 0.00448238 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634710 156634710 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:156634710A>T ENST00000296518.7 + 7 1756 c.1547A>T c.(1546-1548)cAg>cTg p.Q516L GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q258L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q516L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q516L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 516 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTCGACCAGCAGTGTGGAGAG 0.522000 6 37 0 0 0.00198382 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777690 43777690 + Nonsense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:43777690G>A ENST00000389420.3 - 30 4542 c.4543C>T c.(4543-4545)Cag>Tag p.Q1515* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1515 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding p.Q1515*(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CGGGTGGACTGATCACACATT 0.507000 22 64 0 0 0.00152264 0 0 ZNF224 7767 broad.mit.edu 37 19 44610697 44610697 + Silent SNP T T A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:44610697T>A ENST00000336976.6 + 6 638 c.384T>A c.(382-384)ggT>ggA p.G128G AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 128 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CCAAAGAAGGTGATTTCCCCT 0.433000 10 63 0 0 0.000978159 0 0 FIGN 55137 broad.mit.edu 37 2 164466120 164466120 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:164466120G>A ENST00000333129.3 - 3 2536 c.2222C>T c.(2221-2223)tCt>tTt p.S741F FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 741 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CTCCTTTTGAGATATGCTAGG 0.393000 42 64 0 0 0.00222228 0 0 HMGB2 3148 broad.mit.edu 37 4 174254247 174254247 + Missense_Mutation SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:174254247T>C ENST00000296503.5 - 3 1142 c.269A>G c.(268-270)aAg>aGg p.K90R HMGB2_ENST00000446922.2_Missense_Mutation_p.K90R|HMGB2_ENST00000438704.2_Missense_Mutation_p.K90R P26583 HMGB2_HUMAN high mobility group box 2 90 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.K90R(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) ATTGGGGTCCTTTTTCTTCCC 0.398000 3 166 0 0 6.4e-05 0 0 NCR2 9436 broad.mit.edu 37 6 41309847 41309847 + Missense_Mutation SNP G G A rs149275592 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:41309847G>A ENST00000373083.4 + 4 826 c.604G>A c.(604-606)Gta>Ata p.V202I NCR2_ENST00000373089.5_Missense_Mutation_p.V202I|NCR2_ENST00000373086.3_Missense_Mutation_p.V214I NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 202 cellular defense response integral to plasma membrane transmembrane receptor activity p.V202I(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) TGGACTCCTCGTAGCCAAGAG 0.622000 41 93 0 0 0.00148497 0 0 CBR4 84869 broad.mit.edu 37 4 169927999 169927999 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:169927999G>T ENST00000306193.3 - 3 475 c.307C>A c.(307-309)Cag>Aag p.Q103K CBR4_ENST00000504480.1_Missense_Mutation_p.Q103K NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 103 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) GTATGAAGCTGAGATACCATA 0.368000 7 148 0.000274275 0.00108162 0.00448238 1 0 HUS1B 135458 broad.mit.edu 37 6 656505 656505 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:656505G>A ENST00000380907.2 - 1 458 c.440C>T c.(439-441)cCg>cTg p.P147L EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 147 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CAGGCTGGGCGGCAGGCAGTC 0.716000 22 40 0 0 0.00229938 0 0 FBXO8 26269 broad.mit.edu 37 4 175162340 175162340 + Silent SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:175162340G>T ENST00000393674.2 - 4 1348 c.486C>A c.(484-486)atC>atA p.I162I FBXO8_ENST00000503293.1_Silent_p.I121I NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 162 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) AATCATCCAGGATACCCTTGG 0.323000 17 37 6.49762e-13 2.7629e-12 0.00074312 1 0 RBPJL 11317 broad.mit.edu 37 20 43945404 43945404 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr20:43945404C>A ENST00000372741.3 + 12 1441 c.1369C>A c.(1369-1371)Cac>Aac p.H457N RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.I452I|RBPJL_ENST00000343694.3_Silent_p.I453I Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 0 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCGCTCCCATCACAATCCCCA 0.697000 30 39 2.36697e-06 9.72647e-06 0.00127121 1 0 PEAR1 375033 broad.mit.edu 37 1 156874633 156874633 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:156874633C>T ENST00000338302.3 + 4 420 c.195C>T c.(193-195)tgC>tgT p.C65C PEAR1_ENST00000292357.7_Silent_p.C65C Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 65 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCATACTTGCCCCCAGCCCA 0.657000 12 54 0 0 0.00136819 0 0 BMP8B 656 broad.mit.edu 37 1 40228830 40228830 + Missense_Mutation SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:40228830C>A ENST00000372827.3 - 6 1368 c.993G>T c.(991-993)gaG>gaT p.E331D PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 331 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCACTCCCCCTCACAGTAAT 0.632000 6 83 0.00198382 0.0077607 0.00198382 1 0 TTN 7273 broad.mit.edu 37 2 179595727 179595727 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:179595727C>T ENST00000589042.1 - 60 17889 c.17665G>A c.(17665-17667)Gat>Aat p.D5889N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4645N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5572N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5572 Ig-like 40. 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) TCTCCACTATCTTTCTTTTCT 0.378000 87 179 0 0 0.00361006 0 0 IFNA13 3447 broad.mit.edu 37 9 21367983 21367983 + Silent SNP C C T rs147549496 byFrequency TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr9:21367983C>T ENST00000449498.1 - 1 92 c.27G>A c.(25-27)ctG>ctA p.L9L NM_006900.3 NP_008831.3 P01562 IFNA1_HUMAN interferon, alpha 13 8 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) CCAGGGCCATCAGTAAAGCAA 0.547000 78 49 0 0 0.00361006 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771407 90771407 + Missense_Mutation SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr15:90771407A>T ENST00000411539.2 + 14 2306 c.2046A>T c.(2044-2046)caA>caT p.Q682H SEMA4B_ENST00000332496.6_Missense_Mutation_p.Q682H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.Q677H NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TGGCAGACCAAACAGATGAGG 0.607000 5 17 0 0 0.00116845 0 0 CBR4 84869 broad.mit.edu 37 4 169928000 169928000 + Silent SNP A A T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr4:169928000A>T ENST00000306193.3 - 3 474 c.306T>A c.(304-306)tcT>tcA p.S102S CBR4_ENST00000504480.1_Silent_p.S102S NM_032783.4 NP_116172.2 Q8N4T8 CBR4_HUMAN carbonyl reductase 4 102 fatty acid biosynthetic process|protein homotetramerization mitochondrial matrix NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding kidney(1)|large_intestine(2)|lung(2) 5 Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123) GBM - Glioblastoma multiforme(119;0.0321) TATGAAGCTGAGATACCATAT 0.368000 8 146 0 0 0.00448238 0 0 DNAH6 1768 broad.mit.edu 37 2 84784958 84784958 + Missense_Mutation SNP A A G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr2:84784958A>G ENST00000389394.3 + 11 1839 c.1702A>G c.(1702-1704)Att>Gtt p.I568V DNAH6_ENST00000398278.2_Missense_Mutation_p.I568V|DNAH6_ENST00000237449.6_Missense_Mutation_p.I568V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 568 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 CAGCCCTTATATTAACAACAA 0.368000 21 79 0 0 0.00152264 0 0 RIMS4 140730 broad.mit.edu 37 20 43386376 43386376 + Missense_Mutation SNP T T A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr20:43386376T>A ENST00000372851.3 - 4 452 c.386A>T c.(385-387)cAg>cTg p.Q129L RIMS4_ENST00000541604.2_Missense_Mutation_p.Q130L NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 129 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CACCTCCAACTGACCGTTCCG 0.592000 73 68 0 0 0.00361006 0 0 SLC17A9 63910 broad.mit.edu 37 20 61598792 61598792 + Silent SNP C C A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr20:61598792C>A ENST00000370349.3 + 14 1437 c.1233C>A c.(1231-1233)acC>acA p.T411T SLC17A9_ENST00000370351.4_Silent_p.T417T|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 417 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGCTGTGCACCTTCCTGGTGT 0.607000 50 152 4.01344e-20 1.7523e-19 0.00361006 1 0 NOL3 8996 broad.mit.edu 37 16 67208838 67208838 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr16:67208838G>A ENST00000432069.2 + 5 1182 c.610G>A c.(610-612)Gag>Aag p.E204K NOL3_ENST00000564053.1_Missense_Mutation_p.E266K|NOL3_ENST00000268605.7_Missense_Mutation_p.E204K|NOL3_ENST00000568146.1_Silent_p.T200T NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 0 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGAAAGGGACGAGTCCGAAGG 0.657000 22 36 0 0 0.00278032 0 0 DCAF7 10238 broad.mit.edu 37 17 61661062 61661062 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:61661062G>A ENST00000310827.4 + 6 944 c.727G>A c.(727-729)Gat>Aat p.D243N DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 243 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 CATGGCCATGGATGGAATGGA 0.537000 13 38 0 0 0.00136819 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917064 32917064 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:32917064C>T ENST00000374843.4 - 4 850 c.765G>A c.(763-765)cgG>cgA p.R255R XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Silent_p.R160R|HLA-DMA_ENST00000395303.3_Silent_p.R221R NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 255 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 AGCAAGGCTTCCGGAAGTAGA 0.567000 20 44 0 0 0.00121646 0 0 DNAH10 196385 broad.mit.edu 37 12 124416356 124416356 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:124416356G>T ENST00000409039.3 + 74 12761 c.12736G>T c.(12736-12738)Gtg>Ttg p.V4246L DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4246 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAACAAGCTTGTGGTCCGGAT 0.542000 33 84 7.72975e-29 3.40527e-28 0.00283554 1 0 PLXND1 23129 broad.mit.edu 37 3 129324754 129324754 + Silent SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:129324754C>T ENST00000393239.1 - 1 907 c.729G>A c.(727-729)ctG>ctA p.L243L PLXND1_ENST00000324093.4_Silent_p.L243L Q9Y4D7 PLXD1_HUMAN plexin D1 243 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CGCGCGTGTCCAGGGAGCGGA 0.647000 12 18 0 0 0.00185496 0 0 TRAF5 7188 broad.mit.edu 37 1 211534067 211534067 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr1:211534067T>C ENST00000336184.2 + 6 627 c.567T>C c.(565-567)ccT>ccC p.P189P TRAF5_ENST00000367004.3_Silent_p.P189P|TRAF5_ENST00000261464.5_Silent_p.P189P|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron NM_004619.3 NP_004610.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 189 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ACTTGTGTCCTGAATACCCAG 0.373000 3 40 0 0 0.00024832 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018469 101018469 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:101018469C>T ENST00000537247.1 + 10 2528 c.1574C>T c.(1573-1575)cCg>cTg p.P525L GAS2L3_ENST00000266754.5_Missense_Mutation_p.P629L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P629L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P629L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 629 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CAAACTGCACCGAAGTCAGCA 0.527000 20 56 0 0 0.00121646 0 0 TRPV6 55503 broad.mit.edu 37 7 142569486 142569486 + Missense_Mutation SNP C C T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr7:142569486C>T ENST00000359396.3 - 15 2397 c.2152G>A c.(2152-2154)Ggg>Agg p.G718R NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 718 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CAGCTCTCCCCGTCCTCCAGA 0.527000 26 76 0 0 0.000878237 0 0 CNTRL 11064 broad.mit.edu 37 9 123904513 123904513 + Silent SNP A A C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr9:123904513A>C ENST00000373855.1 + 19 3096 c.2836A>C c.(2836-2838)Aga>Cga p.R946R CNTRL_ENST00000238341.5_Silent_p.R946R|CNTRL_ENST00000373847.1_Silent_p.R394R|CNTRL_ENST00000373850.1_Silent_p.R394R Q7Z7A1 CNTRL_HUMAN centriolin 946 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGAGAAGGAGAGAATTCTGGC 0.438000 8 28 0 0 0.00307968 0 0 RPH3A 22895 broad.mit.edu 37 12 113307745 113307745 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:113307745G>A ENST00000389385.4 + 10 1194 c.697G>A c.(697-699)Gtg>Atg p.V233M RPH3A_ENST00000420983.2_Missense_Mutation_p.V233M|RPH3A_ENST00000543106.2_Missense_Mutation_p.V233M|RPH3A_ENST00000447659.2_Missense_Mutation_p.V184M|RPH3A_ENST00000415485.3_Missense_Mutation_p.V233M|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.V229M|RPH3A_ENST00000548866.1_Missense_Mutation_p.V184M NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 233 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGGGCCTCCCGTGCGCAGGGC 0.612000 24 63 0 0 0.00332997 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42137429 42137429 + Missense_Mutation SNP G G T TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr15:42137429G>T ENST00000382448.4 + 19 1970 c.1961G>T c.(1960-1962)cGg>cTg p.R654L JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R423L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R423L|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R654L NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 423 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 TCAGATCAACGGGAGGCCCTG 0.592000 4 34 0.00024832 0.000987223 0.00024832 1 0 DCN 1634 broad.mit.edu 37 12 91550936 91550936 + Missense_Mutation SNP C C G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr12:91550936C>G ENST00000052754.5 - 5 1069 c.568G>C c.(568-570)Gga>Cga p.G190R DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G190R|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G190R|DCN_ENST00000228329.5_Missense_Mutation_p.G81R|DCN_ENST00000420120.2_Missense_Mutation_p.G81R|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 190 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TTTTCAATTCCTGAGCTCTTC 0.413000 9 96 0 0 0.000673444 0 0 PLD1 5337 broad.mit.edu 37 3 171379875 171379875 + Frame_Shift_Del DEL T T - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr3:171379875delT ENST00000356327.5 - 19 2271 c.2201delA c.(2200-2202)acfs p.N734fs PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000342215.6_3'UTR NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 772 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGCCTGCTGTTCTCTATCAC 0.458 16 77 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30551996 30551997 + Frame_Shift_Ins INS - - C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:30551996_30551997insC ENST00000326195.8 + 13 1242_1243 c.1130_1131insC c.(1129-1131)gcafs p.A377fs ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 377 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 ACACCAGCAGTCCAGGCTGTTC 0.550 17 52 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158517350 158517350 + Frame_Shift_Del DEL A A - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr6:158517350delA ENST00000355585.4 + 27 4520 c.4445delA c.(4444-4446)gafs p.E1482fs SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1482 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGTGACCAAGAAAAGAGGACA 0.507 19 43 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 2 4 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 5 3 --- --- --- --- WBSCR17 64409 broad.mit.edu 37 7 70597919 70597920 + Frame_Shift_Del DEL CG CG - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr7:70597919_70597920delCG ENST00000333538.5 + 1 765_766 c.131_132delCG c.(130-132)cfs p.P44fs NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 44 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAGATCCGGCCGCGCGCCGAGG 0.678 16 32 --- --- --- --- TSPAN14 81619 broad.mit.edu 37 10 82249069 82249069 + Splice_Site DEL G G - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr10:82249069delG ENST00000429989.2 + 2 303 c.81_splice c.e2+1 p.W27_splice TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 27 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) ATCATCTTCTGGGTAAGTGGA 0.428 2 4 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 4 4 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576840 7576851 + Splice_Site DEL CAAGACTTAGTA CAAGACTTAGTA - rs1800899 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:7576840_7576851delCAAGACTTAGTA ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(14)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT 0.472 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 40 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751864 + In_Frame_Del DEL CACCAC CACCAC - rs59627144 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr17:7751859_7751864delCACCAC ENST00000254846.5 + 11 2642_2647 c.2253_2258delCACCAC c.(2251-2259)gtc>gt p.VTT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VTT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccaccacc 0.650 7 39 --- --- --- --- PAF1 54623 broad.mit.edu 37 19 39876966 39876966 + Frame_Shift_Del DEL C C - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:39876966delC ENST00000221265.3 - 14 1591 c.1261delG c.(1261-1263)agfs p.E422fs PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 422 Glu-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCACCTTCCTCCCGTTCACTC 0.602 35 239 --- --- --- --- NAPA 8775 broad.mit.edu 37 19 47996389 47996390 + Frame_Shift_Ins INS - - G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr19:47996389_47996390insG ENST00000263354.3 - 6 761_762 c.462_463insC c.(460-465)ggaggafs p.G155fs NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA NM_003827.3 NP_003818.2 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment protein, alpha 155 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) TTGGACTCCTCGCCTTTGTAGT 0.649 20 45 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47855521 47855530 + Frame_Shift_Del DEL ATGGAGAAAG ATGGAGAAAG - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr20:47855521_47855530delATGGAGAAAG ENST00000371754.4 - 15 4187_4196 c.3734_3743delCTTTCTCCAT c.(3733-3744)ttfs p.SFSI1245fs ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|DDX27_ENST00000484427.1_3'UTR Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 0 metal ion binding p.M606I(1)|p.E607*(1) cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GATTGAGAAAATGGAGAAAGATGTGTATGC 0.486 14 45 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 9f8bd5fe-ec7e-40e0-ba9d-063b2696aa1a g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- --- PLD1 5337 broad.mit.edu 37 3 171379875 171379875 + Frame_Shift_Del DEL T T - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr3:171379875delT ENST00000356327.5 - 19 2271 c.2201delA c.(2200-2202)acfs p.N734fs PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Frame_Shift_Del_p.N772fs|PLD1_ENST00000351298.4_Frame_Shift_Del_p.N772fs NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 772 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTGCCTGCTGTTCTCTATCAC 0.458 16 77 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30551996 30551997 + Frame_Shift_Ins INS - - C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:30551996_30551997insC ENST00000326195.8 + 13 1242_1243 c.1130_1131insC c.(1129-1131)gcafs p.A377fs ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Ins_p.A339fs NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 377 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 ACACCAGCAGTCCAGGCTGTTC 0.550 17 52 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158517350 158517350 + Frame_Shift_Del DEL A A - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr6:158517350delA ENST00000355585.4 + 27 4520 c.4445delA c.(4444-4446)gafs p.E1482fs SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.E1437fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.E567fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1482 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGTGACCAAGAAAAGAGGACA 0.507 19 43 --- --- --- --- TSPAN14 81619 broad.mit.edu 37 10 82249069 82249069 + Splice_Site DEL G G - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr10:82249069delG ENST00000429989.2 + 2 303 c.81_splice c.e2+1 p.W27_splice TSPAN14_ENST00000341863.6_Splice_Site_p.W27_splice|TSPAN14_ENST00000372164.3_Splice_Site_p.W27_splice|TSPAN14_ENST00000372158.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000481124.1_Splice_Site_p.W27_splice|TSPAN14_ENST00000372156.1_Splice_Site_p.W27_splice NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 27 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) ATCATCTTCTGGGTAAGTGGA 0.428 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576840 7576851 + Splice_Site DEL CAAGACTTAGTA CAAGACTTAGTA - rs1800899 by1000genomes TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr17:7576840_7576851delCAAGACTTAGTA ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(14)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TAAGAGGTCCCAAGACTTAGTACCTGAAGGGT 0.472 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 40 --- --- --- --- PAF1 54623 broad.mit.edu 37 19 39876966 39876966 + Frame_Shift_Del DEL C C - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:39876966delC ENST00000221265.3 - 14 1591 c.1261delG c.(1261-1263)agfs p.E422fs PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 422 Glu-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCACCTTCCTCCCGTTCACTC 0.602 35 239 --- --- --- --- NAPA 8775 broad.mit.edu 37 19 47996389 47996390 + Frame_Shift_Ins INS - - G TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr19:47996389_47996390insG ENST00000263354.3 - 6 761_762 c.462_463insC c.(460-465)ggaggafs p.G155fs NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Frame_Shift_Ins_p.G116fs|NAPA-AS1_ENST00000593284.1_RNA NM_003827.3 NP_003818.2 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment protein, alpha 155 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) TTGGACTCCTCGCCTTTGTAGT 0.649 20 45 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47855521 47855530 + Frame_Shift_Del DEL ATGGAGAAAG ATGGAGAAAG - TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr20:47855521_47855530delATGGAGAAAG ENST00000371754.4 - 15 4187_4196 c.3734_3743delCTTTCTCCAT c.(3733-3744)ttfs p.SFSI1245fs DDX27_ENST00000371764.4_Frame_Shift_Del_p.MEKD606fs|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 0 metal ion binding p.M606I(1)|p.E607*(1) cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GATTGAGAAAATGGAGAAAGATGTGTATGC 0.486 14 45 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23336d44-bb79-4361-b661-ce26eae06692 30516b25-d2b1-44e1-8414-4b37a66167eb g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- ---