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 SLC22A7 10864 broad.mit.edu 37 6 43267656 43267656 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr6:43267656G>C ENST00000372585.5 + 5 774 c.679G>C c.(679-681)Gag>Cag p.E227Q SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 227 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GCTGGATGTGGAGCACCGCAC 0.607000 17 42 0 0 0.007413 0 0 KPTN 11133 broad.mit.edu 37 19 47984035 47984035 + Missense_Mutation SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:47984035A>G ENST00000338134.3 - 6 688 c.581T>C c.(580-582)cTg>cCg p.L194P KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 194 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) CAGGTTCGTCAGCTCTGGGAA 0.587000 25 101 0 0 0.004656 0 0 ORAI1 84876 broad.mit.edu 37 12 122079507 122079507 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:122079507C>G ENST00000330079.7 + 2 1063 c.870C>G c.(868-870)caC>caG p.H290Q NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 288 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) AGCTGGACCACAGAGGGGACC 0.612000 19 62 0 0 0.007413 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959603 16959603 + RNA SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:16959603G>A ENST00000412962.1 - 0 74 CTGCAGTGACGCCTGCCTCAT 0.602000 3 23 0 0 0.004672 0 0 CASZ1 54897 broad.mit.edu 37 1 10699678 10699678 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:10699678C>T ENST00000377022.3 - 21 4918 c.4601G>A c.(4600-4602)cGc>cAc p.R1534H RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1534 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTGGTGCTTGCGATGCGCCGT 0.662000 5 7 0 0 0.000602 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187182 140187182 + Missense_Mutation SNP A A C rs144914662 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:140187182A>C ENST00000530339.1 + 1 410 c.410A>C c.(409-411)cAa>cCa p.Q137P PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCAACACAAAAGAACCTG 0.572000 4 82 0 0 0.009096 0 0 OR9K2 441639 broad.mit.edu 37 12 55523868 55523868 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:55523868G>T ENST00000305377.5 + 1 404 c.316G>T c.(316-318)Gct>Tct p.A106S NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGAACCCAAGGCTATGATCAA 0.423000 19 70 2.35188e-11 2.56145e-11 0.006122 1 0 RYR1 6261 broad.mit.edu 37 19 38948883 38948883 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:38948883C>T ENST00000355481.4 + 18 2249 c.2118C>T c.(2116-2118)gtC>gtT p.V706V RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000359596.3_Silent_p.V706V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 706 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAACGGGGTCGGCGATGACC 0.657000 24 51 0 0 0.002780 0 0 FBXO11 80204 broad.mit.edu 37 2 48066041 48066041 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:48066041C>T ENST00000403359.3 - 4 616 c.544G>A c.(544-546)Gta>Ata p.V182I FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 182 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGTTTACATACACAAGCTGCT 0.378000 """Mis, F, D""" DLBCL 3 40 0 0 0.004672 0 0 PFDN2 5202 broad.mit.edu 37 1 161071851 161071851 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:161071851T>C ENST00000368010.3 - 3 359 c.275A>G c.(274-276)aAc>aGc p.N92S PFDN2_ENST00000468311.1_Intron NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 92 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTCCTTGTTGTTCTCCAAAGC 0.522000 6 22 0 0 0.003080 0 0 HERC2 8924 broad.mit.edu 37 15 28517376 28517376 + Silent SNP G G A rs141677977 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:28517376G>A ENST00000261609.7 - 9 1176 c.1068C>T c.(1066-1068)tcC>tcT p.S356S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 356 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGTCGCCCTCGGAGTGGGGTG 0.527000 3 24 0 0 0.004672 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553693 135553693 + Silent SNP G G A rs138509726 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr9:135553693G>A ENST00000372146.4 + 2 1251 c.687G>A c.(685-687)ccG>ccA p.P229P GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 229 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ATGAGGCCCCGGAAGGAAATC 0.517000 37 29 0 0 0.004878 0 0 CECR1 51816 broad.mit.edu 37 22 17670900 17670900 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:17670900C>T ENST00000399839.1 - 6 1174 c.904G>A c.(904-906)Gca>Aca p.A302T CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T|CECR1_ENST00000449907.2_Missense_Mutation_p.A260T|CECR1_ENST00000330232.4_Missense_Mutation_p.A61T Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 302 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGGATTCTGCGATGACAGCC 0.577000 10 37 0 0 0.010729 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110441662 110441662 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr8:110441662C>T ENST00000378402.5 + 26 3198 c.3094C>T c.(3094-3096)Cta>Tta p.L1032L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1032 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACTTGGAGACCTACTTCGTAC 0.323000 HNSCC(38;0.096) 4 8 0 0 0.009096 0 0 ZNF667 63934 broad.mit.edu 37 19 56952582 56952582 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:56952582C>A ENST00000504904.3 - 7 2501 c.1782G>T c.(1780-1782)cgG>cgT p.R594R ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000292069.6_Silent_p.R594R|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGGATGAACTCCGACTATATG 0.388000 21 42 7.87624e-14 8.66387e-14 0.002780 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 49 0 0 0.013537 0 0 UBR4 23352 broad.mit.edu 37 1 19487581 19487581 + Nonsense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:19487581G>A ENST00000375267.2 - 38 5239 c.5236C>T c.(5236-5238)Cag>Tag p.Q1746* UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746* Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1746 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTTCACTCTGAAATGCCGAC 0.512000 3 23 0 0 0.004672 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317939 30317939 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:30317939C>A ENST00000375377.1 - 3 1239 c.1138G>T c.(1138-1140)Gct>Tct p.A380S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 380 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTGGCCCCAGCCTTCTCGGTC 0.632000 7 90 8.12818e-05 8.76569e-05 0.001984 1 0 ZNF493 284443 broad.mit.edu 37 19 21607093 21607093 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:21607093C>A ENST00000392288.2 + 4 1741 c.1632C>A c.(1630-1632)ccC>ccA p.P544P ZNF493_ENST00000355504.4_Silent_p.P416P|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GAGAAAAACCCTACAAATGTG 0.358000 4 11 0.00909568 0.00943891 0.009096 1 0 MYH15 22989 broad.mit.edu 37 3 108117636 108117636 + Nonsense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:108117636C>A ENST00000273353.3 - 36 5097 c.5041G>T c.(5041-5043)Gag>Tag p.E1681* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1681 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCACCTGCTCCTTCAGATCA 0.537000 9 163 0.000673444 0.000712297 0.008291 1 0 KANSL1L 151050 broad.mit.edu 37 2 211018847 211018847 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:211018847C>A ENST00000281772.9 - 2 723 c.460G>T c.(460-462)Gat>Tat p.D154Y KANSL1L_ENST00000418791.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000457374.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.D154Y NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 154 ATATTTGAATCCAGAATAATT 0.348000 8 23 0.000274275 0.000292915 0.004482 1 0 NKD2 85409 broad.mit.edu 37 5 1032273 1032273 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:1032273C>T ENST00000296849.5 + 4 377 c.148C>T c.(148-150)Ccc>Tcc p.P50S NKD2_ENST00000537972.1_Missense_Mutation_p.P50S|NKD2_ENST00000274150.4_Missense_Mutation_p.P50S NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 50 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCAGGAGCTGCCCAATGGGGA 0.662000 22 204 0 0 0.003330 0 0 POLA1 5422 broad.mit.edu 37 X 24745918 24745918 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:24745918C>G ENST00000379068.3 + 15 1594 c.1551C>G c.(1549-1551)gtC>gtG p.V517V POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379059.3_Silent_p.V511V P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 511 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATCAGCCAGTCAGTTGGTGTA 0.388000 8 46 0 0 0.004482 0 0 MSH4 4438 broad.mit.edu 37 1 76269464 76269464 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:76269464C>T ENST00000263187.3 + 2 397 c.293C>T c.(292-294)tCa>tTa p.S98L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 98 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ACAGTTGCATCAAATTTTACT 0.328000 Mismatch excision repair (MMR) 5 39 0 0 0.000602 0 0 COL4A4 1286 broad.mit.edu 37 2 227945173 227945173 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:227945173C>G ENST00000396625.3 - 24 1996 c.1789G>C c.(1789-1791)Gat>Cat p.D597H COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 597 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGTCCTGGATCCCCTTTTTCT 0.463000 15 54 0 0 0.002450 0 0 CXCR2 3579 broad.mit.edu 37 2 219000421 219000421 + Silent SNP C C T rs13306439 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:219000421C>T ENST00000318507.2 + 3 1324 c.897C>T c.(895-897)acC>acT p.T299T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 299 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.T299T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TGGATGCCACCGAGATTCTGG 0.567000 9 60 0 0 0.006214 0 0 FLNC 2318 broad.mit.edu 37 7 128497288 128497288 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:128497288G>A ENST00000325888.8 + 46 7939 c.7678G>A c.(7678-7680)Gtg>Atg p.V2560M FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2560 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGAGGGCCATGTGGTCACTTA 0.607000 16 71 0 0 0.003163 0 0 MARVELD2 153562 broad.mit.edu 37 5 68716051 68716051 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:68716051G>A ENST00000325631.5 + 2 913 c.839G>A c.(838-840)cGg>cAg p.R280Q MARVELD2_ENST00000413223.2_Intron NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 280 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATGTATTACCGGACCATTCTT 0.433000 15 55 0 0 0.004007 0 0 POU3F4 5456 broad.mit.edu 37 X 82763808 82763808 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:82763808C>T ENST00000373200.2 + 1 540 c.476C>T c.(475-477)gCa>gTa p.A159V RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 159 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GCCGCCTCTGCACAGAGCCTG 0.657000 6 63 0 0 0.001168 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 10 44 0 0 0.001855 0 0 FBXO18 84893 broad.mit.edu 37 10 5951214 5951214 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:5951214C>T ENST00000379999.5 + 6 1234 c.1130C>T c.(1129-1131)gCg>gTg p.A377V FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A326V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A63V NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 326 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GAGGCTGAGGCGTGTGTGCGG 0.612000 11 19 0 0 0.013537 0 0 SOX13 9580 broad.mit.edu 37 1 204085788 204085788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:204085788C>T ENST00000367204.1 + 5 681 c.572C>T c.(571-573)gCc>gTc p.A191V SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 191 Gln-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) ATGGAGCTTGCCCGGCAGCAG 0.587000 3 38 0 0 0.004672 0 0 MTTP 4547 broad.mit.edu 37 4 100543978 100543978 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr4:100543978G>A ENST00000457717.1 + 19 2914 c.2658G>A c.(2656-2658)ccG>ccA p.P886P MTTP_ENST00000265517.5_Silent_p.P886P|MTTP_ENST00000511045.1_Silent_p.P913P|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 886 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCCCTCAGCCGGATAGTACTT 0.443000 24 55 0 0 0.003954 0 0 WDFY1 57590 broad.mit.edu 37 2 224743419 224743419 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:224743419C>T ENST00000233055.4 - 12 1304 c.1202G>A c.(1201-1203)tGc>tAc p.C401Y NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 401 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) CGCCAGACTGCAGCCCACCAC 0.542000 4 15 0 0 0.000602 0 0 ZC4H2 55906 broad.mit.edu 37 X 64196325 64196325 + Translation_Start_Site SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:64196325C>T ENST00000374839.3 - 0 39 ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Intron|ZC4H2_ENST00000545618.1_De_novo_Start_InFrame NM_018684.3 NP_061154.1 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACAATAGACACAATGTAGCCA 0.527000 10 20 0 0 0.006214 0 0 C15orf27 123591 broad.mit.edu 37 15 76496314 76496314 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:76496314G>A ENST00000388942.3 + 11 1530 c.1254G>A c.(1252-1254)ccG>ccA p.P418P NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 418 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GCGAGGAGCCGTCCTCTGAGC 0.701000 10 28 0 0 0.006214 0 0 ZFAND3 60685 broad.mit.edu 37 6 38084407 38084407 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr6:38084407G>C ENST00000287218.4 + 5 868 c.421G>C c.(421-423)Gaa>Caa p.E141Q ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 141 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 TGAGAATACGGAACGGTCCGA 0.498000 14 33 0 0 0.002450 0 0 IQSEC3 440073 broad.mit.edu 37 12 247432 247432 + Splice_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:247432G>A ENST00000538872.1 + 4 1021 c.e4-1 IQSEC3_ENST00000382841.2_Splice_Site|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Splice_Site Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGTCCTTGCAGATTGAAATGC 0.612000 3 28 0 0 0.009096 0 0 C15orf32 145858 broad.mit.edu 37 15 93016181 93016181 + Splice_Site SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:93016181A>G ENST00000333334.2 + 2 869 c.e2-1 C15orf32_ENST00000556865.1_Splice_Site NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) TGTTTTCCACAGACACATCCT 0.493000 21 68 0 0 0.014323 0 0 OR8H3 390152 broad.mit.edu 37 11 55890111 55890111 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:55890111C>T ENST00000313472.3 + 1 263 c.263C>T c.(262-264)aCt>aTt p.T88I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AACTTACTGACTTCCAACTAT 0.423000 69 290 0 0 0.014410 0 0 UBR1 197131 broad.mit.edu 37 15 43330042 43330042 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:43330042G>A ENST00000290650.4 - 17 2029 c.1951C>T c.(1951-1953)Cgt>Tgt p.R651C UBR1_ENST00000382177.2_Missense_Mutation_p.R651C NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 651 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCAGACAACGTAAAGGATAT 0.393000 4 22 0 0 0.001168 0 0 AUTS2 26053 broad.mit.edu 37 7 70254942 70254942 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:70254942G>A ENST00000342771.4 + 19 3061 c.2740G>A c.(2740-2742)Ggc>Agc p.G914S AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 914 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCGAAAGAGGGCCACCTGCC 0.687000 3 15 0 0 0.009096 0 0 DCLK3 85443 broad.mit.edu 37 3 36779850 36779850 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:36779850C>T ENST00000416516.2 - 2 791 c.301G>A c.(301-303)Gag>Aag p.E101K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 101 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.E101*(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGTTCTGGCTCCCATTTCCCC 0.592000 46 85 0 0 0.014410 0 0 HTATIP2 10553 broad.mit.edu 37 11 20404742 20404742 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:20404742C>G ENST00000451739.2 + 5 1161 c.720C>G c.(718-720)ctC>ctG p.L240L HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000443524.2_Silent_p.L240L|HTATIP2_ENST00000421577.2_Silent_p.L240L|HTATIP2_ENST00000419348.2_Silent_p.L274L NM_001098522.1 NP_001091992.1 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa 240 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATGGCTCTCTCAAGCCATGAC 0.443000 4 5 0 0 0.009096 0 0 BRWD3 254065 broad.mit.edu 37 X 80001189 80001189 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:80001189C>T ENST00000373275.4 - 7 686 c.470G>A c.(469-471)cGc>cAc p.R157H NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 157 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATGACCAAAGCGACTACAGCC 0.373000 184 15 0 0 0.014410 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 11 220 0 0 0.003330 0 0 KIF19 124602 broad.mit.edu 37 17 72322500 72322500 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:72322500C>T ENST00000389916.4 + 1 150 c.12C>T c.(10-12)agC>agT p.S4S NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 4 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 TGAAGGACAGCGGGGACTCCA 0.672000 11 51 0 0 0.013537 0 0 KCNC1 3746 broad.mit.edu 37 11 17793574 17793574 + Silent SNP C C T rs76882721 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:17793574C>T ENST00000379472.3 + 2 963 c.933C>T c.(931-933)cgC>cgT p.R311R KCNC1_ENST00000265969.6_Silent_p.R311R NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 311 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCTTCCTGCGCGTCGTCCGCT 0.627000 3 19 0 0 0.004672 0 0 CCDC33 80125 broad.mit.edu 37 15 74610933 74610933 + Translation_Start_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:74610933G>A ENST00000268082.4 + 1 23 c.3G>A c.(1-3)atG>atA p.M1I CCDC33_ENST00000558821.1_Start_Codon_SNP_p.M1I|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000398814.3_Intron Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 0 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGTAAAGATGGGGGAGCCAG 0.632000 10 17 0 0 0.013537 0 0 NRXN3 9369 broad.mit.edu 37 14 80164200 80164200 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr14:80164200A>C ENST00000281127.7 + 4 1708 c.829A>C c.(829-831)Atg>Ctg p.M277L NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.M277L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L|NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|RP11-242P2.1_ENST00000553322.1_RNA NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 277 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCCACCAGAAATGTCTACTAC 0.453000 8 47 0 0 0.003080 0 0 ITGA11 22801 broad.mit.edu 37 15 68624774 68624774 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:68624774C>T ENST00000423218.2 - 13 1563 c.1468G>A c.(1468-1470)Gac>Aac p.D490N ITGA11_ENST00000315757.7_Missense_Mutation_p.D490N Q9UKX5 ITA11_HUMAN integrin, alpha 11 490 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCGTCGCCGTCGATGTCCACC 0.602000 6 9 0 0 0.001168 0 0 CCDC40 55036 broad.mit.edu 37 17 78073373 78073373 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:78073373G>A ENST00000397545.4 + 20 3255 c.3228G>A c.(3226-3228)caG>caA p.Q1076Q NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1076 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCACCTGCAGGCTGTGAAGG 0.572000 13 41 0 0 0.013537 0 0 ADAM12 8038 broad.mit.edu 37 10 127786990 127786990 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:127786990C>A ENST00000368679.4 - 10 1309 c.1000G>T c.(1000-1002)Gtc>Ttc p.V334F ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 334 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTTACCATGACAATTCCCCCA 0.483000 43 75 2.01872e-29 2.2659e-29 0.014410 1 0 RXFP3 51289 broad.mit.edu 37 5 33937016 33937016 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:33937016G>A ENST00000330120.3 + 1 526 c.171G>A c.(169-171)ccG>ccA p.P57P NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 57 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGGAGTTGCCGGACGGCGCGC 0.687000 14 153 0 0 0.004007 0 0 TAOK1 57551 broad.mit.edu 37 17 27849481 27849481 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:27849481C>T ENST00000261716.3 + 17 2611 c.2092C>T c.(2092-2094)Cga>Tga p.R698* TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 698 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GCGAAGAGAACGAGAACTAAG 0.428000 12 48 0 0 0.013537 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995293 140995293 + Silent SNP A A T rs147024850 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:140995293A>T ENST00000285879.4 + 4 2389 c.2103A>T c.(2101-2103)ggA>ggT p.G701G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 701 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTGAGGGAGAGGACTCCC 0.567000 HNSCC(15;0.026) 19 43 0 0 0.006122 0 0 DGKH 160851 broad.mit.edu 37 13 42761205 42761205 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr13:42761205A>C ENST00000379274.2 + 14 1580 c.1151A>C c.(1150-1152)aAg>aCg p.K384T DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.K520T|DGKH_ENST00000261491.4_Missense_Mutation_p.K520T|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 520 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAAACTGTAAAGGACTTCGTT 0.373000 14 51 0 0 0.004990 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 26 21 0 0 0.013726 0 0 COL17A1 1308 broad.mit.edu 37 10 105812854 105812854 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:105812854C>T ENST00000353479.5 - 23 2164 c.1874G>A c.(1873-1875)cGa>cAa p.R625Q COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 625 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGGCCTTCTCGCCCTCTCTG 0.597000 34 50 0 0 0.013726 0 0 ZNF329 79673 broad.mit.edu 37 19 58639326 58639326 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:58639326C>T ENST00000598312.1 - 4 1778 c.1545G>A c.(1543-1545)caG>caA p.Q515Q ZNF329_ENST00000358067.4_Silent_p.Q515Q NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTTTTCCACACTGAGGACACC 0.512000 29 72 0 0 0.003271 0 0 TEX13A 56157 broad.mit.edu 37 X 104463741 104463741 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:104463741C>T ENST00000413579.1 - 5 1246 c.1135G>A c.(1135-1137)Gac>Aac p.D379N TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 379 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CAGTCCCAGTCCCCTGGCCTG 0.532000 11 83 0 0 0.010729 0 0 TMEM161A 54929 broad.mit.edu 37 19 19231608 19231608 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:19231608G>A ENST00000450333.2 - 9 880 c.843C>T c.(841-843)ctC>ctT p.L281L TMEM161A_ENST00000587583.2_Silent_p.L359L|TMEM161A_ENST00000162044.9_Silent_p.L384L NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 384 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) AGTTGAGGGTGAGGATGAGCG 0.612000 7 46 0 0 0.008291 0 0 KRT24 192666 broad.mit.edu 37 17 38855898 38855898 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:38855898C>T ENST00000264651.2 - 6 1215 c.1159G>A c.(1159-1161)Gga>Aga p.G387R NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 387 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GCCAGGGTTCCCTCCAGGGAG 0.423000 29 55 0 0 0.005443 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26233291 26233291 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:26233291C>T ENST00000354667.4 - 9 949 c.781G>A c.(781-783)Ggt>Agt p.G261S HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 261 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCTCCATAACCGGGGCTACCT 0.448000 T ETV1 prostate 20 55 0 0 0.010504 0 0 OR51I1 390063 broad.mit.edu 37 11 5461808 5461808 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:5461808G>C ENST00000380211.1 - 1 936 c.937C>G c.(937-939)Cag>Gag p.Q313E HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCAGGCCTGGGATTTATGG 0.463000 7 34 0 0 0.003080 0 0 PGA5 5222 broad.mit.edu 37 11 61018663 61018663 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:61018663G>T ENST00000312403.5 + 9 1262 c.1077G>T c.(1075-1077)gaG>gaT p.E359D PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 359 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 AATCTGGAGAGCTTTGGATCC 0.552000 31 139 4.62619e-21 5.14021e-21 0.004289 1 0 SCAPER 49855 broad.mit.edu 37 15 76957999 76957999 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:76957999G>C ENST00000538941.2 - 21 2841 c.1902C>G c.(1900-1902)aaC>aaG p.N634K SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K|SCAPER_ENST00000563290.1_Missense_Mutation_p.N880K NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 879 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 GGTACCTGAAGTTCATCCGGG 0.328000 2 3 0 0 0.004672 0 0 CHST6 4166 broad.mit.edu 37 16 75512907 75512907 + Missense_Mutation SNP C C T rs72547538 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:75512907C>T ENST00000332272.4 - 3 999 c.820G>A c.(820-822)Gag>Aag p.E274K CHST6_ENST00000390664.2_Missense_Mutation_p.E274K|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 274 E -> K (in MCD; abolishes ability to sulfate keratan). 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 GCCAGGTCCTCGAAGCGCACC 0.672000 5 60 0 0 0.001984 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 7 33 0 0 0.008291 0 0 IGHG2 3501 broad.mit.edu 37 14 106109804 106109804 + RNA SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr14:106109804C>T ENST00000390545.2 - 0 716 TGACCTGGTTCTTGGTCATCT 0.617000 17 167 0 0 0.009535 0 0 DCLK3 85443 broad.mit.edu 37 3 36779895 36779895 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:36779895C>G ENST00000416516.2 - 2 746 c.256G>C c.(256-258)Gat>Cat p.D86H NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 86 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTCTGTCATCTAGTGAAAGC 0.622000 51 100 0 0 0.014410 0 0 FAM155B 27112 broad.mit.edu 37 X 68749788 68749788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:68749788C>T ENST00000252338.4 + 3 1450 c.1408C>T c.(1408-1410)Cgg>Tgg p.R470W NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 471 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 GGGCCTGACACGGGAAGAGTG 0.632000 3 21 0 0 0.004672 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513352 76513352 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:76513352G>A ENST00000307431.8 + 13 2181 c.1796G>A c.(1795-1797)aGa>aAa p.R599K CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R603K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 600 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TATAAGCACAGAGGAAATACT 0.343000 16 81 0 0 0.007413 0 0 SEMA5B 54437 broad.mit.edu 37 3 122647874 122647874 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:122647874C>T ENST00000195173.4 - 6 809 c.506G>A c.(505-507)cGc>cAc p.R169H SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R169H Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 169 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCAGGAGCGGCGCGTGTCCTC 0.617000 8 30 0 0 0.006214 0 0 WIPF1 7456 broad.mit.edu 37 2 175431842 175431842 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:175431842G>A ENST00000392547.2 - 7 1511 c.1412C>T c.(1411-1413)aCg>aTg p.T471M AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M|WIPF1_ENST00000467149.1_5'UTR NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 471 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ACTTTTGGTCGTTTGTACATA 0.458000 14 33 0 0 0.004007 0 0 IL16 3603 broad.mit.edu 37 15 81598782 81598782 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:81598782C>T ENST00000394660.2 + 18 4058 c.3698C>T c.(3697-3699)aCg>aTg p.T1233M IL16_ENST00000394652.2_Missense_Mutation_p.T533M|IL16_ENST00000302987.4_Missense_Mutation_p.T1234M|RP11-761I4.4_ENST00000607019.1_RNA NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1234 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 ACAGTCTGCACGGTGACACTG 0.577000 5 100 0 0 0.000602 0 0 KHK 3795 broad.mit.edu 37 2 27317367 27317367 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:27317367C>T ENST00000260599.6 + 3 745 c.232C>T c.(232-234)Cgc>Tgc p.R78C KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 78 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACCTCCGCCGCTATTCTGT 0.597000 20 51 0 0 0.007413 0 0 GJA9 81025 broad.mit.edu 37 1 39341347 39341347 + Silent SNP T T G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:39341347T>G ENST00000454994.2 - 2 700 c.424A>C c.(424-426)Agg>Cgg p.R142R GJA9_ENST00000360786.3_Silent_p.R142R|GJA9_ENST00000357771.3_Silent_p.R142R|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 142 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTTAGTTTCCTTTTCTCCAGC 0.433000 26 51 0 0 0.004656 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712271 70712271 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:70712271C>T ENST00000338779.6 - 8 782 c.508G>A c.(508-510)Gac>Aac p.D170N NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 170 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCGTTGACGTCCTGCAGGGCA 0.662000 12 46 0 0 0.002450 0 0 KMT2C 58508 broad.mit.edu 37 7 151879181 151879181 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:151879181G>C ENST00000355193.2 - 36 5982 c.5764C>G c.(5764-5766)Cca>Gca p.P1922A KMT2C_ENST00000262189.6_Missense_Mutation_p.P1922A lysine (K)-specific methyltransferase 2C TTTTCCACTGGTGCAGCAGAA 0.463000 17 56 0 0 0.004007 0 0 TBR1 10716 broad.mit.edu 37 2 162273105 162273105 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:162273105C>T ENST00000389554.3 + 1 501 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GATGACGAATCAGTCAGATAC 0.493000 13 38 0 0 0.004990 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52722988 52722988 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:52722988G>A ENST00000322088.6 + 10 1231 c.1173G>A c.(1171-1173)gtG>gtA p.V391V PPP2R1A_ENST00000462990.1_Silent_p.V212V|PPP2R1A_ENST00000444322.2_Silent_p.V336V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 391 PP2A subunit B binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGACTGTGTGAACGAGGTGA 0.577000 Mis clear cell ovarian carcinoma 11 22 0 0 0.010729 0 0 IGSF8 93185 broad.mit.edu 37 1 160062266 160062266 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:160062266C>T ENST00000368086.1 - 5 1748 c.1532G>A c.(1531-1533)cGg>cAg p.R511Q IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 511 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCCAGGCCGGACTCCCAG 0.662000 5 19 0 0 0.000602 0 0 BRWD3 254065 broad.mit.edu 37 X 79960224 79960224 + Nonsense_Mutation SNP T T A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:79960224T>A ENST00000373275.4 - 23 2890 c.2674A>T c.(2674-2676)Aag>Tag p.K892* BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 892 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCTAGGGACTTCAAATTTTCC 0.348000 16 444 0 0 0.004007 0 0 PADI4 23569 broad.mit.edu 37 1 17682852 17682852 + Splice_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:17682852G>A ENST00000375448.4 + 13 1482 c.1455_splice c.e13-1 p.G486_splice PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 486 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CTGCCTCCAGGGCTTCCGGCT 0.607000 3 21 0 0 0.004672 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50402370 50402370 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:50402370C>T ENST00000435965.1 - 38 3443 c.3270G>A c.(3268-3270)caG>caA p.Q1090Q CACNA2D2_ENST00000479441.1_Silent_p.Q1087Q|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 1087 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ATCGCGGTCTCTGCACTAGCT 0.721000 8 30 0 0 0.008291 0 0 DBP 1628 broad.mit.edu 37 19 49134221 49134221 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:49134221G>A ENST00000222122.5 - 4 1294 c.851C>T c.(850-852)tCg>tTg p.S284L DBP_ENST00000593500.1_Missense_Mutation_p.S82L|DBP_ENST00000599385.1_Missense_Mutation_p.S82L NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 284 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CGCCCGCACCGATATCTGGTT 0.647000 3 8 0 0 0.009096 0 0 GNB1L 54584 broad.mit.edu 37 22 19789706 19789706 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:19789706C>T ENST00000329517.6 - 7 786 c.550G>A c.(550-552)Ggc>Agc p.G184S GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 184 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) TCCTCATAGCCGGCCAGAAGG 0.622000 12 31 0 0 0.010729 0 0 POLR1A 25885 broad.mit.edu 37 2 86279995 86279995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:86279995G>A ENST00000263857.6 - 16 2715 c.2337C>T c.(2335-2337)acC>acT p.T779T POLR1A_ENST00000409681.1_Silent_p.T779T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 779 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGGCCAGGCAGGTTAGAACCT 0.642000 11 19 0 0 0.013537 0 0 PLCD1 5333 broad.mit.edu 37 3 38050888 38050888 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:38050888T>C ENST00000463876.1 - 10 1897 c.1544A>G c.(1543-1545)gAc>gGc p.D515G PLCD1_ENST00000334661.4_Missense_Mutation_p.D494G NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 494 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AATGACCATGTCAGAGAGCTC 0.577000 17 14 0 0 0.008871 0 0 COL18A1 80781 broad.mit.edu 37 21 46899995 46899995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr21:46899995G>A ENST00000359759.4 + 10 2589 c.2568G>A c.(2566-2568)ggG>ggA p.G856G COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 856 Triple-helical region 2 (COL2). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGACCCTGGGGTTGGAGAGA 0.657000 3 47 0 0 0.009096 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267656 43267656 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr6:43267656G>C ENST00000372585.5 + 5 774 c.679G>C c.(679-681)Gag>Cag p.E227Q SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 227 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GCTGGATGTGGAGCACCGCAC 0.607000 17 42 0 0 0.007413 0 0 KPTN 11133 broad.mit.edu 37 19 47984035 47984035 + Missense_Mutation SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:47984035A>G ENST00000338134.3 - 6 688 c.581T>C c.(580-582)cTg>cCg p.L194P KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 194 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) CAGGTTCGTCAGCTCTGGGAA 0.587000 25 101 0 0 0.004656 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317939 30317939 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr10:30317939C>A ENST00000375377.1 - 3 1239 c.1138G>T c.(1138-1140)Gct>Tct p.A380S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 380 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTGGCCCCAGCCTTCTCGGTC 0.632000 7 90 8.12818e-05 8.79171e-05 0.001984 1 0 CASZ1 54897 broad.mit.edu 37 1 10699678 10699678 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:10699678C>T ENST00000377022.3 - 21 4918 c.4601G>A c.(4600-4602)cGc>cAc p.R1534H RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1534 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTGGTGCTTGCGATGCGCCGT 0.662000 5 7 0 0 0.000602 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187182 140187182 + Missense_Mutation SNP A A C rs144914662 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr5:140187182A>C ENST00000530339.1 + 1 410 c.410A>C c.(409-411)cAa>cCa p.Q137P PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCAACACAAAAGAACCTG 0.572000 4 82 0 0 0.009096 0 0 OR9K2 441639 broad.mit.edu 37 12 55523868 55523868 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr12:55523868G>T ENST00000305377.5 + 1 404 c.316G>T c.(316-318)Gct>Tct p.A106S NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGAACCCAAGGCTATGATCAA 0.423000 19 70 2.35188e-11 2.59687e-11 0.006122 1 0 RYR1 6261 broad.mit.edu 37 19 38948883 38948883 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:38948883C>T ENST00000355481.4 + 18 2249 c.2118C>T c.(2116-2118)gtC>gtT p.V706V RYR1_ENST00000359596.3_Silent_p.V706V|RYR1_ENST00000360985.3_Silent_p.V706V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 706 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAACGGGGTCGGCGATGACC 0.657000 24 51 0 0 0.002780 0 0 FBXO11 80204 broad.mit.edu 37 2 48066041 48066041 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:48066041C>T ENST00000403359.3 - 4 616 c.544G>A c.(544-546)Gta>Ata p.V182I FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 182 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGTTTACATACACAAGCTGCT 0.378000 """Mis, F, D""" DLBCL 3 40 0 0 0.004672 0 0 PFDN2 5202 broad.mit.edu 37 1 161071851 161071851 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:161071851T>C ENST00000368010.3 - 3 359 c.275A>G c.(274-276)aAc>aGc p.N92S PFDN2_ENST00000468311.1_Intron NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 92 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTCCTTGTTGTTCTCCAAAGC 0.522000 6 22 0 0 0.003080 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553693 135553693 + Silent SNP G G A rs138509726 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr9:135553693G>A ENST00000372146.4 + 2 1251 c.687G>A c.(685-687)ccG>ccA p.P229P GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 229 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ATGAGGCCCCGGAAGGAAATC 0.517000 37 29 0 0 0.004878 0 0 CECR1 51816 broad.mit.edu 37 22 17670900 17670900 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr22:17670900C>T ENST00000399839.1 - 6 1174 c.904G>A c.(904-906)Gca>Aca p.A302T CECR1_ENST00000449907.2_Missense_Mutation_p.A260T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000330232.4_Missense_Mutation_p.A61T|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 302 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGGATTCTGCGATGACAGCC 0.577000 10 37 0 0 0.010729 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110441662 110441662 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr8:110441662C>T ENST00000378402.5 + 26 3198 c.3094C>T c.(3094-3096)Cta>Tta p.L1032L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1032 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACTTGGAGACCTACTTCGTAC 0.323000 HNSCC(38;0.096) 4 8 0 0 0.009096 0 0 ZNF667 63934 broad.mit.edu 37 19 56952582 56952582 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:56952582C>A ENST00000504904.3 - 7 2501 c.1782G>T c.(1780-1782)cgG>cgT p.R594R ZNF667_ENST00000292069.6_Silent_p.R594R|ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGGATGAACTCCGACTATATG 0.388000 21 42 7.87624e-14 8.78823e-14 0.002780 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 49 0 0 0.013537 0 0 UBR4 23352 broad.mit.edu 37 1 19487581 19487581 + Nonsense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:19487581G>A ENST00000375267.2 - 38 5239 c.5236C>T c.(5236-5238)Cag>Tag p.Q1746* UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746* Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1746 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTTCACTCTGAAATGCCGAC 0.512000 3 23 0 0 0.004672 0 0 ORAI1 84876 broad.mit.edu 37 12 122079507 122079507 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr12:122079507C>G ENST00000330079.7 + 2 1063 c.870C>G c.(868-870)caC>caG p.H290Q NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 288 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) AGCTGGACCACAGAGGGGACC 0.612000 19 62 0 0 0.007413 0 0 ZNF493 284443 broad.mit.edu 37 19 21607093 21607093 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:21607093C>A ENST00000392288.2 + 4 1741 c.1632C>A c.(1630-1632)ccC>ccA p.P544P CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.P416P NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GAGAAAAACCCTACAAATGTG 0.358000 4 11 0.00909568 0.0093606 0.009096 1 0 MYH15 22989 broad.mit.edu 37 3 108117636 108117636 + Nonsense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:108117636C>A ENST00000273353.3 - 36 5097 c.5041G>T c.(5041-5043)Gag>Tag p.E1681* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1681 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCACCTGCTCCTTCAGATCA 0.537000 9 163 0.000673444 0.000713851 0.008291 1 0 KANSL1L 151050 broad.mit.edu 37 2 211018847 211018847 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:211018847C>A ENST00000281772.9 - 2 723 c.460G>T c.(460-462)Gat>Tat p.D154Y KANSL1L_ENST00000418791.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000457374.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.D154Y NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 154 ATATTTGAATCCAGAATAATT 0.348000 8 23 0.000274275 0.000293668 0.004482 1 0 POLA1 5422 broad.mit.edu 37 X 24745918 24745918 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:24745918C>G ENST00000379068.3 + 15 1594 c.1551C>G c.(1549-1551)gtC>gtG p.V517V POLA1_ENST00000379059.3_Silent_p.V511V|POLA1_ENST00000493342.1_3'UTR P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 511 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATCAGCCAGTCAGTTGGTGTA 0.388000 8 46 0 0 0.004482 0 0 MSH4 4438 broad.mit.edu 37 1 76269464 76269464 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:76269464C>T ENST00000263187.3 + 2 397 c.293C>T c.(292-294)tCa>tTa p.S98L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 98 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ACAGTTGCATCAAATTTTACT 0.328000 Mismatch excision repair (MMR) 5 39 0 0 0.000602 0 0 KIF19 124602 broad.mit.edu 37 17 72322500 72322500 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:72322500C>T ENST00000389916.4 + 1 150 c.12C>T c.(10-12)agC>agT p.S4S NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 4 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 TGAAGGACAGCGGGGACTCCA 0.672000 11 51 0 0 0.013537 0 0 COL4A4 1286 broad.mit.edu 37 2 227945173 227945173 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:227945173C>G ENST00000396625.3 - 24 1996 c.1789G>C c.(1789-1791)Gat>Cat p.D597H COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 597 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGTCCTGGATCCCCTTTTTCT 0.463000 15 54 0 0 0.002450 0 0 CXCR2 3579 broad.mit.edu 37 2 219000421 219000421 + Silent SNP C C T rs13306439 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:219000421C>T ENST00000318507.2 + 3 1324 c.897C>T c.(895-897)acC>acT p.T299T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 299 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.T299T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TGGATGCCACCGAGATTCTGG 0.567000 9 60 0 0 0.006214 0 0 FLNC 2318 broad.mit.edu 37 7 128497288 128497288 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr7:128497288G>A ENST00000325888.8 + 46 7939 c.7678G>A c.(7678-7680)Gtg>Atg p.V2560M RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2560 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGAGGGCCATGTGGTCACTTA 0.607000 16 71 0 0 0.003163 0 0 MARVELD2 153562 broad.mit.edu 37 5 68716051 68716051 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr5:68716051G>A ENST00000325631.5 + 2 913 c.839G>A c.(838-840)cGg>cAg p.R280Q MARVELD2_ENST00000413223.2_Intron NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 280 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATGTATTACCGGACCATTCTT 0.433000 15 55 0 0 0.004007 0 0 POU3F4 5456 broad.mit.edu 37 X 82763808 82763808 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:82763808C>T ENST00000373200.2 + 1 540 c.476C>T c.(475-477)gCa>gTa p.A159V RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 159 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GCCGCCTCTGCACAGAGCCTG 0.657000 6 63 0 0 0.001168 0 0 FBXO18 84893 broad.mit.edu 37 10 5951214 5951214 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr10:5951214C>T ENST00000379999.5 + 6 1234 c.1130C>T c.(1129-1131)gCg>gTg p.A377V FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A63V|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A326V NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 326 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GAGGCTGAGGCGTGTGTGCGG 0.612000 11 19 0 0 0.013537 0 0 SOX13 9580 broad.mit.edu 37 1 204085788 204085788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:204085788C>T ENST00000367204.1 + 5 681 c.572C>T c.(571-573)gCc>gTc p.A191V SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 191 Gln-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) ATGGAGCTTGCCCGGCAGCAG 0.587000 3 38 0 0 0.004672 0 0 MTTP 4547 broad.mit.edu 37 4 100543978 100543978 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr4:100543978G>A ENST00000457717.1 + 19 2914 c.2658G>A c.(2656-2658)ccG>ccA p.P886P MTTP_ENST00000511045.1_Silent_p.P913P|MTTP_ENST00000265517.5_Silent_p.P886P|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 886 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCCCTCAGCCGGATAGTACTT 0.443000 24 55 0 0 0.003954 0 0 WDFY1 57590 broad.mit.edu 37 2 224743419 224743419 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:224743419C>T ENST00000233055.4 - 12 1304 c.1202G>A c.(1201-1203)tGc>tAc p.C401Y NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 401 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) CGCCAGACTGCAGCCCACCAC 0.542000 4 15 0 0 0.000602 0 0 ZC4H2 55906 broad.mit.edu 37 X 64196325 64196325 + Translation_Start_Site SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:64196325C>T ENST00000374839.3 - 0 39 ZC4H2_ENST00000545618.1_De_novo_Start_InFrame|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_De_novo_Start_OutOfFrame|ZC4H2_ENST00000337990.2_Intron NM_018684.3 NP_061154.1 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACAATAGACACAATGTAGCCA 0.527000 10 20 0 0 0.006214 0 0 C15orf27 123591 broad.mit.edu 37 15 76496314 76496314 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:76496314G>A ENST00000388942.3 + 11 1530 c.1254G>A c.(1252-1254)ccG>ccA p.P418P NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 418 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GCGAGGAGCCGTCCTCTGAGC 0.701000 10 28 0 0 0.006214 0 0 ZFAND3 60685 broad.mit.edu 37 6 38084407 38084407 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr6:38084407G>C ENST00000287218.4 + 5 868 c.421G>C c.(421-423)Gaa>Caa p.E141Q ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 141 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 TGAGAATACGGAACGGTCCGA 0.498000 14 33 0 0 0.002450 0 0 IQSEC3 440073 broad.mit.edu 37 12 247432 247432 + Splice_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr12:247432G>A ENST00000538872.1 + 4 1021 c.e4-1 RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Splice_Site|IQSEC3_ENST00000382841.2_Splice_Site Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGTCCTTGCAGATTGAAATGC 0.612000 3 28 0 0 0.009096 0 0 C15orf32 145858 broad.mit.edu 37 15 93016181 93016181 + Splice_Site SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:93016181A>G ENST00000333334.2 + 2 869 c.e2-1 C15orf32_ENST00000556865.1_Splice_Site NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) TGTTTTCCACAGACACATCCT 0.493000 21 68 0 0 0.014323 0 0 OR8H3 390152 broad.mit.edu 37 11 55890111 55890111 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr11:55890111C>T ENST00000313472.3 + 1 263 c.263C>T c.(262-264)aCt>aTt p.T88I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AACTTACTGACTTCCAACTAT 0.423000 69 290 0 0 0.014410 0 0 UBR1 197131 broad.mit.edu 37 15 43330042 43330042 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:43330042G>A ENST00000290650.4 - 17 2029 c.1951C>T c.(1951-1953)Cgt>Tgt p.R651C UBR1_ENST00000382177.2_Missense_Mutation_p.R651C NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 651 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCAGACAACGTAAAGGATAT 0.393000 4 22 0 0 0.001168 0 0 AUTS2 26053 broad.mit.edu 37 7 70254942 70254942 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr7:70254942G>A ENST00000342771.4 + 19 3061 c.2740G>A c.(2740-2742)Ggc>Agc p.G914S AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 914 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCGAAAGAGGGCCACCTGCC 0.687000 3 15 0 0 0.009096 0 0 DCLK3 85443 broad.mit.edu 37 3 36779850 36779850 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:36779850C>T ENST00000416516.2 - 2 791 c.301G>A c.(301-303)Gag>Aag p.E101K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 101 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.E101*(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGTTCTGGCTCCCATTTCCCC 0.592000 46 85 0 0 0.014410 0 0 HTATIP2 10553 broad.mit.edu 37 11 20404742 20404742 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr11:20404742C>G ENST00000451739.2 + 5 1161 c.720C>G c.(718-720)ctC>ctG p.L240L HTATIP2_ENST00000421577.2_Silent_p.L240L|HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000443524.2_Silent_p.L240L|HTATIP2_ENST00000419348.2_Silent_p.L274L NM_001098522.1 NP_001091992.1 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa 240 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ATGGCTCTCTCAAGCCATGAC 0.443000 4 5 0 0 0.009096 0 0 BRWD3 254065 broad.mit.edu 37 X 80001189 80001189 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:80001189C>T ENST00000373275.4 - 7 686 c.470G>A c.(469-471)cGc>cAc p.R157H NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 157 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATGACCAAAGCGACTACAGCC 0.373000 184 15 0 0 0.014410 0 0 NKD2 85409 broad.mit.edu 37 5 1032273 1032273 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr5:1032273C>T ENST00000296849.5 + 4 377 c.148C>T c.(148-150)Ccc>Tcc p.P50S NKD2_ENST00000274150.4_Missense_Mutation_p.P50S|NKD2_ENST00000537972.1_Missense_Mutation_p.P50S NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 50 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCAGGAGCTGCCCAATGGGGA 0.662000 22 204 0 0 0.003330 0 0 KCNC1 3746 broad.mit.edu 37 11 17793574 17793574 + Silent SNP C C T rs76882721 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr11:17793574C>T ENST00000379472.3 + 2 963 c.933C>T c.(931-933)cgC>cgT p.R311R KCNC1_ENST00000265969.6_Silent_p.R311R NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 311 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCTTCCTGCGCGTCGTCCGCT 0.627000 3 19 0 0 0.004672 0 0 CCDC33 80125 broad.mit.edu 37 15 74610933 74610933 + Translation_Start_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:74610933G>A ENST00000268082.4 + 1 23 c.3G>A c.(1-3)atG>atA p.M1I CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Start_Codon_SNP_p.M1I|CCDC33_ENST00000398814.3_Intron Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 0 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGTAAAGATGGGGGAGCCAG 0.632000 10 17 0 0 0.013537 0 0 NRXN3 9369 broad.mit.edu 37 14 80164200 80164200 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr14:80164200A>C ENST00000281127.7 + 4 1708 c.829A>C c.(829-831)Atg>Ctg p.M277L NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.M277L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 277 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCCACCAGAAATGTCTACTAC 0.453000 8 47 0 0 0.003080 0 0 ITGA11 22801 broad.mit.edu 37 15 68624774 68624774 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:68624774C>T ENST00000423218.2 - 13 1563 c.1468G>A c.(1468-1470)Gac>Aac p.D490N ITGA11_ENST00000315757.7_Missense_Mutation_p.D490N Q9UKX5 ITA11_HUMAN integrin, alpha 11 490 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCGTCGCCGTCGATGTCCACC 0.602000 6 9 0 0 0.001168 0 0 CCDC40 55036 broad.mit.edu 37 17 78073373 78073373 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:78073373G>A ENST00000397545.4 + 20 3255 c.3228G>A c.(3226-3228)caG>caA p.Q1076Q NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1076 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCACCTGCAGGCTGTGAAGG 0.572000 13 41 0 0 0.013537 0 0 ADAM12 8038 broad.mit.edu 37 10 127786990 127786990 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr10:127786990C>A ENST00000368679.4 - 10 1309 c.1000G>T c.(1000-1002)Gtc>Ttc p.V334F ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 334 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTTACCATGACAATTCCCCCA 0.483000 43 75 2.01872e-29 2.32591e-29 0.014410 1 0 RXFP3 51289 broad.mit.edu 37 5 33937016 33937016 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr5:33937016G>A ENST00000330120.3 + 1 526 c.171G>A c.(169-171)ccG>ccA p.P57P NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 57 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGGAGTTGCCGGACGGCGCGC 0.687000 14 153 0 0 0.004007 0 0 TAOK1 57551 broad.mit.edu 37 17 27849481 27849481 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:27849481C>T ENST00000261716.3 + 17 2611 c.2092C>T c.(2092-2094)Cga>Tga p.R698* TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 698 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GCGAAGAGAACGAGAACTAAG 0.428000 12 48 0 0 0.013537 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995293 140995293 + Silent SNP A A T rs147024850 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:140995293A>T ENST00000285879.4 + 4 2389 c.2103A>T c.(2101-2103)ggA>ggT p.G701G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 701 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTGAGGGAGAGGACTCCC 0.567000 HNSCC(15;0.026) 19 43 0 0 0.006122 0 0 DGKH 160851 broad.mit.edu 37 13 42761205 42761205 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr13:42761205A>C ENST00000379274.2 + 14 1580 c.1151A>C c.(1150-1152)aAg>aCg p.K384T DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.K520T|DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T|DGKH_ENST00000261491.4_Missense_Mutation_p.K520T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 520 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAAACTGTAAAGGACTTCGTT 0.373000 14 51 0 0 0.004990 0 0 HERC2 8924 broad.mit.edu 37 15 28517376 28517376 + Silent SNP G G A rs141677977 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:28517376G>A ENST00000261609.7 - 9 1176 c.1068C>T c.(1066-1068)tcC>tcT p.S356S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 356 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGTCGCCCTCGGAGTGGGGTG 0.527000 3 24 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 26 21 0 0 0.013726 0 0 COL17A1 1308 broad.mit.edu 37 10 105812854 105812854 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr10:105812854C>T ENST00000353479.5 - 23 2164 c.1874G>A c.(1873-1875)cGa>cAa p.R625Q COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 625 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGGCCTTCTCGCCCTCTCTG 0.597000 34 50 0 0 0.013726 0 0 ZNF329 79673 broad.mit.edu 37 19 58639326 58639326 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:58639326C>T ENST00000598312.1 - 4 1778 c.1545G>A c.(1543-1545)caG>caA p.Q515Q ZNF329_ENST00000358067.4_Silent_p.Q515Q NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTTTTCCACACTGAGGACACC 0.512000 29 72 0 0 0.003271 0 0 TEX13A 56157 broad.mit.edu 37 X 104463741 104463741 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:104463741C>T ENST00000413579.1 - 5 1246 c.1135G>A c.(1135-1137)Gac>Aac p.D379N IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 379 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CAGTCCCAGTCCCCTGGCCTG 0.532000 11 83 0 0 0.010729 0 0 TMEM161A 54929 broad.mit.edu 37 19 19231608 19231608 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:19231608G>A ENST00000450333.2 - 9 880 c.843C>T c.(841-843)ctC>ctT p.L281L TMEM161A_ENST00000587583.2_Silent_p.L359L|TMEM161A_ENST00000162044.9_Silent_p.L384L NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 384 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) AGTTGAGGGTGAGGATGAGCG 0.612000 7 46 0 0 0.008291 0 0 KRT24 192666 broad.mit.edu 37 17 38855898 38855898 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:38855898C>T ENST00000264651.2 - 6 1215 c.1159G>A c.(1159-1161)Gga>Aga p.G387R NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 387 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GCCAGGGTTCCCTCCAGGGAG 0.423000 29 55 0 0 0.005443 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26233291 26233291 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr7:26233291C>T ENST00000354667.4 - 9 949 c.781G>A c.(781-783)Ggt>Agt p.G261S HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 261 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCTCCATAACCGGGGCTACCT 0.448000 T ETV1 prostate 20 55 0 0 0.010504 0 0 OR51I1 390063 broad.mit.edu 37 11 5461808 5461808 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr11:5461808G>C ENST00000380211.1 - 1 936 c.937C>G c.(937-939)Cag>Gag p.Q313E HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCAGGCCTGGGATTTATGG 0.463000 7 34 0 0 0.003080 0 0 PGA5 5222 broad.mit.edu 37 11 61018663 61018663 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr11:61018663G>T ENST00000312403.5 + 9 1262 c.1077G>T c.(1075-1077)gaG>gaT p.E359D PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 359 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 AATCTGGAGAGCTTTGGATCC 0.552000 31 139 4.62619e-21 5.27286e-21 0.004289 1 0 SCAPER 49855 broad.mit.edu 37 15 76957999 76957999 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:76957999G>C ENST00000538941.2 - 21 2841 c.1902C>G c.(1900-1902)aaC>aaG p.N634K SCAPER_ENST00000563290.1_Missense_Mutation_p.N880K|SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 879 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 GGTACCTGAAGTTCATCCGGG 0.328000 2 3 0 0 0.004672 0 0 CHST6 4166 broad.mit.edu 37 16 75512907 75512907 + Missense_Mutation SNP C C T rs72547538 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr16:75512907C>T ENST00000332272.4 - 3 999 c.820G>A c.(820-822)Gag>Aag p.E274K CHST6_ENST00000390664.2_Missense_Mutation_p.E274K|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 274 E -> K (in MCD; abolishes ability to sulfate keratan). 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 GCCAGGTCCTCGAAGCGCACC 0.672000 5 60 0 0 0.001984 0 0 IGHG2 3501 broad.mit.edu 37 14 106109804 106109804 + RNA SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr14:106109804C>T ENST00000390545.2 - 0 716 TGACCTGGTTCTTGGTCATCT 0.617000 17 167 0 0 0.009535 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 3 39 0 0 0.009096 0 0 DCLK3 85443 broad.mit.edu 37 3 36779895 36779895 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:36779895C>G ENST00000416516.2 - 2 746 c.256G>C c.(256-258)Gat>Cat p.D86H NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 86 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTCTGTCATCTAGTGAAAGC 0.622000 51 100 0 0 0.014410 0 0 FAM155B 27112 broad.mit.edu 37 X 68749788 68749788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:68749788C>T ENST00000252338.4 + 3 1450 c.1408C>T c.(1408-1410)Cgg>Tgg p.R470W NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 471 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 GGGCCTGACACGGGAAGAGTG 0.632000 3 21 0 0 0.004672 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513352 76513352 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr16:76513352G>A ENST00000307431.8 + 13 2181 c.1796G>A c.(1795-1797)aGa>aAa p.R599K CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R603K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 600 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TATAAGCACAGAGGAAATACT 0.343000 16 81 0 0 0.007413 0 0 SEMA5B 54437 broad.mit.edu 37 3 122647874 122647874 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:122647874C>T ENST00000195173.4 - 6 809 c.506G>A c.(505-507)cGc>cAc p.R169H SEMA5B_ENST00000357599.3_Missense_Mutation_p.R169H|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 169 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCAGGAGCGGCGCGTGTCCTC 0.617000 8 30 0 0 0.006214 0 0 WIPF1 7456 broad.mit.edu 37 2 175431842 175431842 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:175431842G>A ENST00000392547.2 - 7 1511 c.1412C>T c.(1411-1413)aCg>aTg p.T471M WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 471 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ACTTTTGGTCGTTTGTACATA 0.458000 14 33 0 0 0.004007 0 0 IL16 3603 broad.mit.edu 37 15 81598782 81598782 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr15:81598782C>T ENST00000394660.2 + 18 4058 c.3698C>T c.(3697-3699)aCg>aTg p.T1233M IL16_ENST00000302987.4_Missense_Mutation_p.T1234M|IL16_ENST00000394652.2_Missense_Mutation_p.T533M|RP11-761I4.4_ENST00000607019.1_RNA NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1234 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 ACAGTCTGCACGGTGACACTG 0.577000 5 100 0 0 0.000602 0 0 KHK 3795 broad.mit.edu 37 2 27317367 27317367 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:27317367C>T ENST00000260599.6 + 3 745 c.232C>T c.(232-234)Cgc>Tgc p.R78C KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 78 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACCTCCGCCGCTATTCTGT 0.597000 20 51 0 0 0.007413 0 0 GJA9 81025 broad.mit.edu 37 1 39341347 39341347 + Silent SNP T T G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:39341347T>G ENST00000454994.2 - 2 700 c.424A>C c.(424-426)Agg>Cgg p.R142R RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.R142R|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.R142R P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 142 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTTAGTTTCCTTTTCTCCAGC 0.433000 26 51 0 0 0.004656 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712271 70712271 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr16:70712271C>T ENST00000338779.6 - 8 782 c.508G>A c.(508-510)Gac>Aac p.D170N NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 170 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCGTTGACGTCCTGCAGGGCA 0.662000 12 46 0 0 0.002450 0 0 KMT2C 58508 broad.mit.edu 37 7 151879181 151879181 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr7:151879181G>C ENST00000355193.2 - 36 5982 c.5764C>G c.(5764-5766)Cca>Gca p.P1922A KMT2C_ENST00000262189.6_Missense_Mutation_p.P1922A lysine (K)-specific methyltransferase 2C TTTTCCACTGGTGCAGCAGAA 0.463000 17 56 0 0 0.004007 0 0 TBR1 10716 broad.mit.edu 37 2 162273105 162273105 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:162273105C>T ENST00000389554.3 + 1 501 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GATGACGAATCAGTCAGATAC 0.493000 13 38 0 0 0.004990 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52722988 52722988 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:52722988G>A ENST00000322088.6 + 10 1231 c.1173G>A c.(1171-1173)gtG>gtA p.V391V PPP2R1A_ENST00000462990.1_Silent_p.V212V|PPP2R1A_ENST00000444322.2_Silent_p.V336V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 391 PP2A subunit B binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGACTGTGTGAACGAGGTGA 0.577000 Mis clear cell ovarian carcinoma 11 22 0 0 0.010729 0 0 IGSF8 93185 broad.mit.edu 37 1 160062266 160062266 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:160062266C>T ENST00000368086.1 - 5 1748 c.1532G>A c.(1531-1533)cGg>cAg p.R511Q IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 511 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCCAGGCCGGACTCCCAG 0.662000 5 19 0 0 0.000602 0 0 BRWD3 254065 broad.mit.edu 37 X 79960224 79960224 + Nonsense_Mutation SNP T T A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chrX:79960224T>A ENST00000373275.4 - 23 2890 c.2674A>T c.(2674-2676)Aag>Tag p.K892* BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 892 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCTAGGGACTTCAAATTTTCC 0.348000 16 444 0 0 0.004007 0 0 PADI4 23569 broad.mit.edu 37 1 17682852 17682852 + Splice_Site SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr1:17682852G>A ENST00000375448.4 + 13 1482 c.1455_splice c.e13-1 p.G486_splice PADI4_ENST00000487048.1_3'UTR NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 486 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CTGCCTCCAGGGCTTCCGGCT 0.607000 3 21 0 0 0.004672 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50402370 50402370 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:50402370C>T ENST00000435965.1 - 38 3443 c.3270G>A c.(3268-3270)caG>caA p.Q1090Q CACNA2D2_ENST00000479441.1_Silent_p.Q1087Q|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 1087 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ATCGCGGTCTCTGCACTAGCT 0.721000 8 30 0 0 0.008291 0 0 DBP 1628 broad.mit.edu 37 19 49134221 49134221 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:49134221G>A ENST00000222122.5 - 4 1294 c.851C>T c.(850-852)tCg>tTg p.S284L DBP_ENST00000593500.1_Missense_Mutation_p.S82L|DBP_ENST00000599385.1_Missense_Mutation_p.S82L NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 284 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CGCCCGCACCGATATCTGGTT 0.647000 3 8 0 0 0.009096 0 0 GNB1L 54584 broad.mit.edu 37 22 19789706 19789706 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr22:19789706C>T ENST00000329517.6 - 7 786 c.550G>A c.(550-552)Ggc>Agc p.G184S GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 184 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) TCCTCATAGCCGGCCAGAAGG 0.622000 12 31 0 0 0.010729 0 0 POLR1A 25885 broad.mit.edu 37 2 86279995 86279995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr2:86279995G>A ENST00000263857.6 - 16 2715 c.2337C>T c.(2335-2337)acC>acT p.T779T POLR1A_ENST00000409681.1_Silent_p.T779T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 779 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGGCCAGGCAGGTTAGAACCT 0.642000 11 19 0 0 0.013537 0 0 PLCD1 5333 broad.mit.edu 37 3 38050888 38050888 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr3:38050888T>C ENST00000463876.1 - 10 1897 c.1544A>G c.(1543-1545)gAc>gGc p.D515G PLCD1_ENST00000334661.4_Missense_Mutation_p.D494G NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 494 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AATGACCATGTCAGAGAGCTC 0.577000 17 14 0 0 0.008871 0 0 COL18A1 80781 broad.mit.edu 37 21 46899995 46899995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr21:46899995G>A ENST00000359759.4 + 10 2589 c.2568G>A c.(2566-2568)ggG>ggA p.G856G COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 856 Triple-helical region 2 (COL2). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGACCCTGGGGTTGGAGAGA 0.657000 3 47 0 0 0.009096 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995395 1995405 + Frame_Shift_Del DEL GATATTAATGA GATATTAATGA - rs10735005 by1000genomes TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:1995395_1995405delGATATTAATGA ENST00000382722.5 - 8 1339_1349 c.977_987delTCATTAATATC c.(976-987)tfs p.FINI326fs CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 326 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.F326F(1) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TTACCGCTATGATATTAATGAAGTCATTCTC 0.498 8 38 --- --- --- --- TRMT5 57570 broad.mit.edu 37 14 61442681 61442696 + Frame_Shift_Del DEL TTCTTTGCTACTGGAA TTCTTTGCTACTGGAA - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr14:61442681_61442696delTTCTTTGCTACTGGAA ENST00000261249.6 - 4 1325_1340 c.941_956delTTCCAGTAGCAAAGAA c.(940-957)aafs p.IPVAKK314fs RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 314 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG 0.417 7 117 --- --- --- --- OR1D2 4991 broad.mit.edu 37 17 2995956 2995966 + Frame_Shift_Del DEL TTGTCCAGGGC TTGTCCAGGGC - rs138671819 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:2995956_2995966delTTGTCCAGGGC ENST00000331459.1 - 1 324_334 c.325_335delGCCCTGGACAA c.(325-336)cfs p.ALDN109fs NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 109 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.A109T(1)|p.A109A(1) kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CAGGATGAGGTTGTCCAGGGCCACCAAGGAG 0.540 22 73 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41086523 41086527 + Frame_Shift_Del DEL GGATC GGATC - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:41086523_41086527delGGATC ENST00000291842.5 + 8 663_667 c.614_618delGGATC c.(613-618)tfs p.WI205fs SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 205 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCATAATTGGATCGCTGTGGCCT 0.595 8 41 --- --- --- --- ZNF702P 79986 broad.mit.edu 37 19 53473566 53473566 + RNA DEL T T - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:53473566delT ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTATCTGACATTTTTTTAACA 0.348 8 19 --- --- --- --- SAMHD1 25939 broad.mit.edu 37 20 35580031 35580032 + In_Frame_Ins INS - - ATC TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr20:35580031_35580032insATC ENST00000262878.4 - 1 214_215 c.15_16insGAT c.(13-18)gaccga>gaGATccga p.5_5D>EI SAMHD1_ENST00000373694.5_De_novo_Start_InFrame NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 5 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) GGCTGCTCGGAATCGGCTCGCT 0.693 42 281 --- --- --- --- MCAT 27349 broad.mit.edu 37 22 43539128 43539128 + Frame_Shift_Del DEL C C - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:43539128delC ENST00000290429.5 - 1 272 c.227delG c.(226-228)gcfs p.G76fs MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs NM_173467.4 NP_775738.3 Q8IVS2 FABD_HUMAN malonyl CoA:ACP acyltransferase (mitochondrial) 76 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) GCGGCCCATGCCCACCACCTG 0.746 2 4 --- --- --- --- CACNA2D4 93589 broad.mit.edu 37 12 1995395 1995405 + Frame_Shift_Del DEL GATATTAATGA GATATTAATGA - rs10735005 by1000genomes TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr12:1995395_1995405delGATATTAATGA ENST00000382722.5 - 8 1339_1349 c.977_987delTCATTAATATC c.(976-987)tfs p.FINI326fs CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 326 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.F326F(1) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TTACCGCTATGATATTAATGAAGTCATTCTC 0.498 8 38 --- --- --- --- TRMT5 57570 broad.mit.edu 37 14 61442681 61442696 + Frame_Shift_Del DEL TTCTTTGCTACTGGAA TTCTTTGCTACTGGAA - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr14:61442681_61442696delTTCTTTGCTACTGGAA ENST00000261249.6 - 4 1325_1340 c.941_956delTTCCAGTAGCAAAGAA c.(940-957)aafs p.IPVAKK314fs RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 314 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG 0.417 7 117 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 9 0 --- --- --- --- OR1D2 4991 broad.mit.edu 37 17 2995956 2995966 + Frame_Shift_Del DEL TTGTCCAGGGC TTGTCCAGGGC - rs138671819 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr17:2995956_2995966delTTGTCCAGGGC ENST00000331459.1 - 1 324_334 c.325_335delGCCCTGGACAA c.(325-336)cfs p.ALDN109fs NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 109 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.A109T(1)|p.A109A(1) kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CAGGATGAGGTTGTCCAGGGCCACCAAGGAG 0.540 22 73 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41086523 41086527 + Frame_Shift_Del DEL GGATC GGATC - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:41086523_41086527delGGATC ENST00000291842.5 + 8 663_667 c.614_618delGGATC c.(613-618)tfs p.WI205fs SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 205 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCATAATTGGATCGCTGTGGCCT 0.595 8 41 --- --- --- --- ZNF702P 79986 broad.mit.edu 37 19 53473566 53473566 + RNA DEL T T - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr19:53473566delT ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTATCTGACATTTTTTTAACA 0.348 8 19 --- --- --- --- SAMHD1 25939 broad.mit.edu 37 20 35580031 35580032 + In_Frame_Ins INS - - ATC TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr20:35580031_35580032insATC ENST00000262878.4 - 1 214_215 c.15_16insGAT c.(13-18)gaccga>gaGATccga p.5_5D>EI SAMHD1_ENST00000373694.5_De_novo_Start_InFrame NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 5 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) GGCTGCTCGGAATCGGCTCGCT 0.693 42 281 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 11 71 --- --- --- --- MCAT 27349 broad.mit.edu 37 22 43539128 43539128 + Frame_Shift_Del DEL C C - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80c86be4-ccbe-4bf5-afcf-644cd337d37a 89cc9e5d-d447-4b1c-9681-4d30a631ec53 g.chr22:43539128delC ENST00000290429.5 - 1 272 c.227delG c.(226-228)gcfs p.G76fs MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs|MCAT_ENST00000464244.1_5'UTR NM_173467.4 NP_775738.3 Q8IVS2 FABD_HUMAN malonyl CoA:ACP acyltransferase (mitochondrial) 76 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) GCGGCCCATGCCCACCACCTG 0.746 2 4 --- --- --- ---