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 ABCC2 1244 broad.mit.edu 37 10 101559038 101559038 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr10:101559038G>A ENST00000370449.4 + 8 1055 c.942G>A c.(940-942)ctG>ctA p.L314L NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 314 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGAAGGCTCTGTTCAAAACTT 0.403000 8 251 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234975872 234975872 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:234975872C>T ENST00000168148.3 + 6 592 c.504C>T c.(502-504)ctC>ctT p.L168L SPP2_ENST00000373368.1_Silent_p.L168L NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 168 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) TTACAGGTCTCATTTCAGACG 0.393000 4 76 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587255 55587255 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr11:55587255C>G ENST00000333976.4 + 1 170 c.150C>G c.(148-150)atC>atG p.I50M NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTGTGATCATCAAAATCAACC 0.453000 15 127 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257698 16257698 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:16257698G>C ENST00000375759.3 + 11 5167 c.4963G>C c.(4963-4965)Gag>Cag p.E1655Q NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1655 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCAGCACTAGAGAAGACCAC 0.493000 7 148 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 37 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78263580 78263580 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr17:78263580G>A ENST00000582970.1 + 6 1199 c.1056G>A c.(1054-1056)gtG>gtA p.V352V RNF213_ENST00000456466.1_Silent_p.V352V|RNF213_ENST00000508628.2_Silent_p.V401V|RNF213_ENST00000319921.4_Silent_p.V352V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 352 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAGCTGCTGTGAAAAACGAGA 0.527000 3 24 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138699732 138699732 + Missense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chrX:138699732C>A ENST00000520602.1 - 11 1404 c.1119G>T c.(1117-1119)gaG>gaT p.E373D MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000536274.1_Missense_Mutation_p.E274D|MCF2_ENST00000370576.4_Missense_Mutation_p.E313D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 313 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTGCTTTTATCTCATTAACCA 0.393000 6 74 0.217242 0.217242 1 1 0 MMEL1 79258 broad.mit.edu 37 1 2538485 2538485 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:2538485G>C ENST00000288709.6 - 7 772 c.532C>G c.(532-534)Cag>Gag p.Q178E MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.Q187E NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 187 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) AGCAGGGGCTGAGAGCCTCGC 0.652000 3 36 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77407181 77407181 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr15:77407181C>G ENST00000560626.2 - 7 5033 c.4558G>C c.(4558-4560)Gag>Cag p.E1520Q PEAK1_ENST00000312493.4_Missense_Mutation_p.E1520Q Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1520 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AGCAGGTTCTCTAGGCGTAGA 0.542000 6 46 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190430213 190430213 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:190430213C>T ENST00000261024.2 - 6 1053 c.627G>A c.(625-627)tcG>tcA p.S209S NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 209 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) AGTTCCATCCCGAAATAAAGC 0.488000 4 53 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70595670 70595670 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:70595670C>G ENST00000302516.5 + 17 2482 c.2271C>G c.(2269-2271)atC>atG p.I757M NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 757 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TTGTGGCCATCTCCACCAACA 0.542000 6 59 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559562 140559562 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr5:140559562C>T ENST00000239444.2 + 1 2192 c.1947C>T c.(1945-1947)ggC>ggT p.G649G NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 649 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGACAATGGCGAGCCTCCGT 0.706000 4 42 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13481367 13481367 + Silent SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr10:13481367G>C ENST00000341083.3 - 9 1508 c.1212C>G c.(1210-1212)ctC>ctG p.L404L BEND7_ENST00000396900.2_Silent_p.L455L|BEND7_ENST00000486542.1_5'UTR NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 455 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TCAGGAGCACGAGATGCTGCT 0.527000 5 53 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91030272 91030272 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr15:91030272G>A ENST00000268182.5 + 32 4235 c.4111G>A c.(4111-4113)Gtg>Atg p.V1371M IQGAP1_ENST00000560738.1_Missense_Mutation_p.V799M NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1371 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CAAGTTCGACGTGCCTGGAGA 0.433000 7 66 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99931103 99931103 + Missense_Mutation SNP C C T rs143469082 byFrequency TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chrX:99931103C>T ENST00000455616.1 - 18 2284 c.1938G>A c.(1936-1938)atG>atA p.M646I SYTL4_ENST00000454200.2_Missense_Mutation_p.M648I|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.M646I|SYTL4_ENST00000263033.5_Missense_Mutation_p.M646I|SYTL4_ENST00000372989.1_Missense_Mutation_p.M646I Q96C24 SYTL4_HUMAN synaptotagmin-like 4 646 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTACTGTCGCATCTTCTGCC 0.547000 3 23 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158646059 158646059 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:158646059C>T ENST00000368148.3 - 8 1164 c.984G>A c.(982-984)gaG>gaA p.E328E SPTA1_ENST00000368147.3_Silent_p.E328E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 328 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.E328E(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTGTCAGCTTCTCTGCTTTAG 0.498000 6 146 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586940 42586940 + Nonsense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr8:42586940C>T ENST00000289957.2 + 5 618 c.490C>T c.(490-492)Cga>Tga p.R164* NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 164 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCCGTTCGACCGACAGAACTG 0.483000 3 30 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:49412905C>G ENST00000418115.1 - 2 502 c.118G>C c.(118-120)Gag>Cag p.E40Q RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 40 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.E40Q(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438000 8 84 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66641854 66641854 + Nonsense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:66641854C>G ENST00000261233.4 + 12 2115 c.1694C>G c.(1693-1695)tCa>tGa p.S565* IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504* NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 565 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GATCCTTCTTCAGAAGCTCCA 0.423000 12 108 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611665 50611665 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:50611665G>A ENST00000444124.2 - 2 319 c.119C>T c.(118-120)cCg>cTg p.P40L DDC_ENST00000380984.4_Missense_Mutation_p.P40L|DDC_ENST00000426377.1_Missense_Mutation_p.P40L|DDC_ENST00000357936.5_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 40 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) AGGGATCAGCGGCCGCAGGTA 0.572000 7 141 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138856034 138856034 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr5:138856034C>T ENST00000330794.4 - 8 1285 c.952G>A c.(952-954)Gca>Aca p.A318T NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 318 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGTCATCTGCAGGTTCTGGA 0.542000 5 26 0 0 1 0 0 UTP11L 51118 broad.mit.edu 37 1 38484759 38484759 + Missense_Mutation SNP A A T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:38484759A>T ENST00000373014.4 + 5 432 c.371A>T c.(370-372)cAt>cTt p.H124L UTP11L_ENST00000537711.1_Missense_Mutation_p.H124L|UTP11L_ENST00000488453.1_3'UTR NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 124 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCAGAGCTCCATCTGCTGGAT 0.363000 4 58 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 19 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109535433 109535433 + Silent SNP A A T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr13:109535433A>T ENST00000356711.2 + 13 1512 c.1386A>T c.(1384-1386)tcA>tcT p.S462S MYO16_ENST00000251041.5_Silent_p.S462S|MYO16_ENST00000357550.2_Silent_p.S462S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 462 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCAGCTCCTCAGGGAAGCTGT 0.542000 7 123 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50869453 50869453 + Missense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:50869453G>T ENST00000398473.2 + 16 2093 c.1981G>T c.(1981-1983)Gtt>Ttt p.V661F LARP4_ENST00000429001.3_Missense_Mutation_p.V667F|LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 661 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TGAGAACTCCGTTGAGAAACC 0.488000 8 115 0.000274275 0.000287132 1 1 0 DHRS7C 201140 broad.mit.edu 37 17 9684831 9684831 + Missense_Mutation SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr17:9684831C>G ENST00000330255.4 - 2 247 c.235G>C c.(235-237)Gat>Cat p.D79H DHRS7C_ENST00000571134.1_Missense_Mutation_p.D79H NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 79 extracellular region binding|oxidoreductase activity p.D79N(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 ATCAAGGCATCATATAGGTTC 0.547000 7 55 0 0 1 0 0 CEP57L1 285753 broad.mit.edu 37 6 109481812 109481812 + Nonsense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:109481812G>T ENST00000407272.1 + 12 1631 c.1054G>T c.(1054-1056)Gaa>Taa p.E352* CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.E299*|CEP57L1_ENST00000517392.1_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.E252*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.E369*|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.E355*|CEP57L1_ENST00000368968.2_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.E252* NM_001083535.1 NP_001077004.1 Q8IYX8 CE57L_HUMAN centrosomal protein 57kDa-like 1 352 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 GAAGGAAACTGAAAGTCATTC 0.328000 8 65 5.18039e-06 5.78477e-06 1 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68703725 68703725 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr11:68703725G>A ENST00000255078.3 + 13 1888 c.1777G>A c.(1777-1779)Gag>Aag p.E593K IGHMBP2_ENST00000541229.1_3'UTR NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 593 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTTCTTGCTGAGGACCGGAG 0.532000 11 136 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36175192 36175192 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:36175192C>T ENST00000357641.6 + 4 1961 c.1708C>T c.(1708-1710)Cgg>Tgg p.R570W BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 570 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TGAGCTGATTCGGAAGAGAGA 0.547000 5 27 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457885 159457885 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:159457885G>A ENST00000367066.3 - 10 1501 c.1170C>T c.(1168-1170)agC>agT p.S390S RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.S212S|RP1-111C20.4_ENST00000606466.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 390 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTGTCACCCGGCTCTCGAGGC 0.582000 4 50 0 0 1 0 0 SMR3B 10879 broad.mit.edu 37 4 71255552 71255552 + Missense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr4:71255552C>A ENST00000304915.3 + 3 376 c.227C>A c.(226-228)cCt>cAt p.P76H SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) CCACCACCCCCTCCTCAACCC 0.582000 7 70 8.12818e-05 8.92768e-05 1 1 0 CCDC171 203238 broad.mit.edu 37 9 15920328 15920328 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:15920328G>A ENST00000380701.3 + 25 3989 c.3661G>A c.(3661-3663)Gag>Aag p.E1221K CCDC171_ENST00000486641.2_3'UTR NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1221 CATGACATTAGAGAAGGAAAT 0.338000 6 47 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31598918 31598918 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:31598918G>A ENST00000376033.2 + 16 2702 c.2468G>A c.(2467-2469)aGc>aAc p.S823N PRRC2A_ENST00000376007.4_Missense_Mutation_p.S823N NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 823 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTCTTCAGGAGCGAGACTCCT 0.488000 8 69 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 51 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266071 3266071 + RNA SNP A A G rs2550401 by1000genomes TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:3266071A>G ENST00000576468.1 + 0 418 GCCAACTCGAATGCTCTGCTG 0.562000 4 42 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31683457 31683457 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:31683457G>A ENST00000319386.3 + 11 3022 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K CCDC129_ENST00000407970.3_Missense_Mutation_p.E825K|CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 825 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCCTGGCCCTGAACCCTCAGT 0.567000 6 69 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 7 13 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801363 67801363 + Missense_Mutation SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr13:67801363C>T ENST00000544246.1 - 2 1901 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 404 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACCTCTCTTTCAATAAAACAG 0.378000 7 103 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100868694 100868694 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:100868694G>A ENST00000369208.3 - 10 1921 c.1139C>T c.(1138-1140)tCa>tTa p.S380L SIM1_ENST00000262901.4_Missense_Mutation_p.S380L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 380 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCTGGATTTTGACTTTGAGCT 0.478000 4 43 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335797 127335797 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr3:127335797G>A ENST00000265056.7 + 10 1853 c.1609G>A c.(1609-1611)Gag>Aag p.E537K NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 537 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CAAGTATATTGAGAAAGTGTC 0.597000 8 105 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935293 30935293 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr19:30935293G>A ENST00000355537.3 + 2 971 c.824G>A c.(823-825)cGc>cAc p.R275H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCGGGCTTCCGCTGTACCTTC 0.667000 3 28 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140947 143140947 + Silent SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:143140947G>A ENST00000332690.1 + 1 402 c.402G>A c.(400-402)aaG>aaA p.K134K EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 134 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTGGCTAAAGCACAAGTTGT 0.478000 11 161 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997162 82997162 + Missense_Mutation SNP T T A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr7:82997162T>A ENST00000307792.3 - 17 2535 c.2068A>T c.(2068-2070)Agg>Tgg p.R690W SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 690 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CTGTGATGCCTGTCCTCCTCA 0.478000 6 80 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179635016 179635016 + Silent SNP C C G TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:179635016C>G ENST00000589042.1 - 36 8636 c.8412G>C c.(8410-8412)gtG>gtC p.V2804V TTN_ENST00000360870.5_Silent_p.V2804V|TTN_ENST00000591111.1_Silent_p.V2804V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000342175.6_Silent_p.V2758V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V2804V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2542 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) CCAAGGCTGTCACATCCTTTG 0.408000 6 99 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138869398 138869398 + Missense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chrX:138869398C>A ENST00000370557.1 - 15 2553 c.1526G>T c.(1525-1527)gGg>gTg p.G509V ATP11C_ENST00000359686.2_Missense_Mutation_p.G512V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G512V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G512V|ATP11C_ENST00000327569.3_Missense_Mutation_p.G512V Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 512 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AAATGTGAACCCGTACCTATC 0.308000 4 38 0.00024832 0.000264086 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117014887 117014887 + Missense_Mutation SNP G G A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr9:117014887G>A ENST00000356083.3 + 26 3439 c.3048G>A c.(3046-3048)atG>atA p.M1016I NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1016 Collagen-like 7.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATCGTGGCATGATGGGACCCC 0.612000 9 86 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85029046 85029046 + Missense_Mutation SNP G G T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr1:85029046G>T ENST00000370630.4 - 6 899 c.851C>A c.(850-852)gCt>gAt p.A284D CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 284 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) ACGTCCTGCAGCGTCACTACA 0.408000 4 38 0.00024832 0.000264086 1 1 0 POU4F1 5457 broad.mit.edu 37 13 79175606 79175606 + Missense_Mutation SNP A A C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr13:79175606A>C ENST00000377208.5 - 2 1415 c.1204T>G c.(1204-1206)Tgg>Ggg p.W402G RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 402 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TTGCAAAACCACACCCGCACC 0.607000 5 71 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73499573 73499573 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr17:73499573C>T ENST00000321617.3 - 17 2302 c.1716G>A c.(1714-1716)ctG>ctA p.L572L CASKIN2_ENST00000433559.2_Silent_p.L490L NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 572 SAM 2. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTACTGTGGCAGCCCCAGTG 0.637000 4 59 0 0 1 0 0 PRIMPOL 201973 broad.mit.edu 37 4 185593362 185593362 + Missense_Mutation SNP G G C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr4:185593362G>C ENST00000314970.6 + 7 1025 c.592G>C c.(592-594)Gac>Cac p.D198H CCDC111_ENST00000515774.1_Missense_Mutation_p.D69H|CCDC111_ENST00000512834.1_Missense_Mutation_p.D198H|CCDC111_ENST00000503752.1_Missense_Mutation_p.D198H NM_152683.2 NP_689896.1 Q96LW4 CC111_HUMAN 198 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) GCCTGCTCTTGACTTGCTTGG 0.423000 5 90 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179638098 179638098 + Splice_Site SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr2:179638098T>C ENST00000589042.1 - 33 7819 c.e33-2 TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 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) TTTTAATTTCTGGGGAAAAAA 0.348000 6 39 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241208 3241208 + Nonsense_Mutation SNP C C A TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chrX:3241208C>A ENST00000217939.6 - 5 2672 c.2518G>T c.(2518-2520)Gaa>Taa p.E840* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 840 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCTGAGGATTCTTCAGCACTG 0.488000 7 68 2.0095e-06 2.28197e-06 1 1 0 XYLT1 64131 broad.mit.edu 37 16 17211720 17211720 + Silent SNP C C T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr16:17211720C>T ENST00000261381.6 - 11 2424 c.2340G>A c.(2338-2340)gtG>gtA p.V780V NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 780 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AAATGACGGTCACGGTCACAT 0.552000 4 65 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70637839 70637839 + Missense_Mutation SNP T T C TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr6:70637839T>C ENST00000322773.4 + 5 407 c.305T>C c.(304-306)gTa>gCa p.V102A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 102 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GAGTACTCAGTAGCTGCCATG 0.418000 15 95 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746334 94746335 + Frame_Shift_Ins INS - - TG TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr8:94746334_94746335insTG ENST00000399300.2 - 3 2517_2518 c.2304_2305insCA c.(2302-2307)ccagcafs p.A769fs RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.A649fs NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 769 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CTGAAATGCTCTGGGGGTGGCC 0.673 13 81 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 7 346 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57919453 57919454 + Frame_Shift_Ins INS - - T TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:57919453_57919454insT ENST00000355673.3 + 6 1058_1059 c.702_703insT c.(700-705)agccagfs p.Q235fs MBD6_ENST00000431731.2_Frame_Shift_Ins_p.Q235fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 235 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTGCCCTCAGATCCAGCCTGGT 0.619 9 165 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 11 339 --- --- --- --- COL20A1 57642 broad.mit.edu 37 20 61947987 61947987 + Frame_Shift_Del DEL C C - TCGA-CV-7410-01A-21D-2078-08 TCGA-CV-7410-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx b89c4f94-b07c-485b-95ba-ffe815616d78 245ef417-846c-48c1-b0ad-f66c8ff88649 g.chr20:61947987delC ENST00000422202.1 + 20 2696 c.2628delC c.(2626-2628)ttfs p.F876fs COL20A1_ENST00000358894.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F876fs Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 869 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCTCTGCCTTCGGTGGGACCC 0.647 2 4 --- --- --- ---