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 KIF17 57576 broad.mit.edu 37 1 21009246 21009246 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:21009246G>A uc001bdr.4 - 10 2481 c.2363C>T c.(2362-2364)tCg>tTg p.S788L KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 788 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GTCCTCATCCGAGTTCTGCAG 0.607 DNALI1 7802 broad.mit.edu 37 1 38025070 38025070 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:38025070C>T uc001cbj.3 + 2 446 c.436C>T c.(436-438)Cgc>Tgc p.R146C DNALI1_uc010oie.2_Intron NM_003462 NP_003453 O14645 IDLC_HUMAN Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA. 124 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGCCCTGTCCGCAGGGAACT 0.587 TIE1 7075 broad.mit.edu 37 1 43784978 43784978 + Missense_Mutation SNP G G T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:43784978G>T uc001ciu.3 + 17 3172 c.2995G>T c.(2995-2997)Ggc>Tgc p.G999C TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 999 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCAGACTTCGGCCTTTCTCG 0.577 FLG 2312 broad.mit.edu 37 1 152284263 152284263 + Silent SNP G G A rs146128865 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:152284263G>A uc001ezu.1 - 2 3135 c.3099C>T c.(3097-3099)caC>caT p.H1033H AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1033 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGGGATCCGTGTCTTTCTC 0.567 Ichthyosis LCE3A 353142 broad.mit.edu 37 1 152595450 152595450 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:152595450C>T uc010pdt.2 - 0 130 c.130G>A c.(130-132)Gag>Aag p.E44K NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN Homo sapiens late cornified envelope 3A (LCE3A), mRNA. 44 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTGCGCTCGGAGCTGGGC 0.657 HMCN1 83872 broad.mit.edu 37 1 186045741 186045741 + Silent SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:186045741A>G uc001grq.1 + 53 8701 c.8472A>G c.(8470-8472)gtA>gtG p.V2824V MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2824 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTGATAAAGTATTGATTTTGC 0.428 LEFTY2 7044 broad.mit.edu 37 1 226127598 226127598 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:226127598G>A uc001hpt.2 - 1 598 c.355C>T c.(355-357)Cgg>Tgg p.R119W LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron NM_003240 NP_003231 O00292 LFTY2_HUMAN Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA. 119 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) TGGAAGAGCCGCAGCACGGCC 0.741 OR2T1 26696 broad.mit.edu 37 1 248569915 248569915 + Missense_Mutation SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr1:248569915T>C uc010pzm.2 + 0 620 c.620T>C c.(619-621)tTc>tCc p.F207S NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGGATGGCTTCCTCCTAACC 0.537 OR51A7 119687 broad.mit.edu 37 11 4929295 4929295 + Missense_Mutation SNP G G T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:4929295G>T uc010qyq.2 + 0 696 c.696G>T c.(694-696)gaG>gaT p.E232D NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTTGGCAGAGAGGCTTAAGG 0.478 OR52B6 340980 broad.mit.edu 37 11 5602633 5602633 + Missense_Mutation SNP T T A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:5602633T>A uc010qzi.2 + 0 527 c.527T>A c.(526-528)tTt>tAt p.F176Y HBG1_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCATTATGTTTCCATCCATC 0.498 PIK3C2A 5286 broad.mit.edu 37 11 17111388 17111388 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:17111388C>T uc001mmq.4 - 31 5023 c.4958G>A c.(4957-4959)cGg>cAg p.R1653Q PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 1653 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) AAAATTCTCCCGCAGAGATTC 0.413 MS4A14 84689 broad.mit.edu 37 11 60184370 60184370 + Silent SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:60184370T>C uc001npj.3 + 4 2494 c.1929T>C c.(1927-1929)gaT>gaC p.D643D MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D NM_032597 NP_115986 Q96JA4 M4A14_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA. 643 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TATGCCAAGATTCAGAATCCC 0.473 RBM14 5936 broad.mit.edu 37 11 66411465 66411465 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:66411465C>T uc009yrj.3 + 2 1445 c.957C>T c.(955-957)ccC>ccT p.P319P RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P NM_002896 NP_002887 Q96PK6 RBM14_HUMAN Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA. 510 Ala-rich.|TRBP-interacting domain. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCCCAGTCCCCACTGTTGGAG 0.622 POU2AF1 5450 broad.mit.edu 37 11 111229596 111229596 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:111229596C>T uc001plg.4 - 1 319 c.64G>A c.(64-66)Gtc>Atc p.V22I NM_006235 NP_006226 Q16633 OBF1_HUMAN Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA. 22 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TTCACACGGACGCCCTGGTAT 0.647 T BCL6 NHL CD3E 916 broad.mit.edu 37 11 118183512 118183512 + Missense_Mutation SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:118183512T>C uc001psq.4 + 5 539 c.283T>C c.(283-285)Tat>Cat p.Y95H CD3E_uc010rya.2_Missense_Mutation_p.Y95H NM_000733 NP_000724 P07766 CD3E_HUMAN Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA. 95 Ig-like. G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GCAAAGTGGTTATTATGTCTG 0.443 C1QTNF5 83552 broad.mit.edu 37 11 119215663 119215663 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:119215663G>A uc010rzg.1 - 5 853 c.693C>T c.(691-693)ctC>ctT p.L231L C1QTNF5_uc001pwj.2_5'UTR Q9BY79 MFRP_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA. 231 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGACCACCAGGAGGTGGCTGG 0.617 OR10G7 390265 broad.mit.edu 37 11 123909127 123909127 + Silent SNP G G A rs147011748 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr11:123909127G>A uc001pzq.1 - 0 582 c.582C>T c.(580-582)aaC>aaT p.N194N NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N194N(2)|p.N194K(2) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGACCATCTCGTTGGCTGAGG 0.537 ACSM4 341392 broad.mit.edu 37 12 7456944 7456944 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:7456944G>A uc001qsx.1 + 0 17 c.17G>A c.(16-18)cGc>cAc p.R6H NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 6 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ATTTTTTTCCGCTACCAGACA 0.468 SLCO1B3 28234 broad.mit.edu 37 12 21036410 21036410 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:21036410C>T uc010sil.2 + 10 1621 c.1556C>T c.(1555-1557)gCa>gTa p.A519V SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 519 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AATTACTCAGCACACTTGGGT 0.338 ABCC9 10060 broad.mit.edu 37 12 21997448 21997448 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:21997448C>T uc001rfh.3 - 25 3304 c.3284G>A c.(3283-3285)cGc>cAc p.R1095H ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1095 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGCTGAAAAGCGATTGAGAAT 0.353 STK38L 23012 broad.mit.edu 37 12 27467499 27467499 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:27467499A>G uc001rhr.3 + 6 779 c.580A>G c.(580-582)Att>Gtt p.I194V STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA. 194 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) ACAGTTCTACATTTCAGAGAC 0.378 CACNB3 784 broad.mit.edu 37 12 49218455 49218455 + Silent SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr12:49218455A>G uc001rsl.2 + 4 870 c.411A>G c.(409-411)agA>agG p.R137R CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 137 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) TTCTCAGGAGATCTGGGAACC 0.483 RNF17 56163 broad.mit.edu 37 13 25444863 25444863 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr13:25444863C>T uc001upr.3 + 31 4474 c.4433C>T c.(4432-4434)aCg>aTg p.T1478M RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1478 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCTCCTCTGACGGATTTTAGA 0.423 PCDH20 64881 broad.mit.edu 37 13 61985634 61985634 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr13:61985634C>T uc001vid.4 - 1 2962 c.2598G>A c.(2596-2598)gaG>gaA p.E866E PCDH20_uc010thj.2_Silent_p.E866E NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 839 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GTTCTTTCTCCTCTATATTAA 0.393 OR4K17 390436 broad.mit.edu 37 14 20586156 20586156 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:20586156G>A uc001vwo.1 + 0 591 c.591G>A c.(589-591)ttG>ttA p.L197L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGTGAACTTGCCCTTTTGTG 0.428 CLEC14A 161198 broad.mit.edu 37 14 38724256 38724256 + Missense_Mutation SNP G G T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:38724256G>T uc001wum.1 - 0 1319 c.972C>A c.(970-972)gaC>gaA p.D324E NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 324 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCAGCTTCTCGTCGACCCTGA 0.602 PLEKHG3 26030 broad.mit.edu 37 14 65208951 65208951 + Missense_Mutation SNP C C G rs150120531 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:65208951C>G uc001xhp.2 + 15 3118 c.3079C>G c.(3079-3081)Cgc>Ggc p.R1027G PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 906 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.P1027Q(1) endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) ACTGCACCCCCGCATCGTGCA 0.662 AK7 122481 broad.mit.edu 37 14 96864516 96864516 + Missense_Mutation SNP A A T rs17853407 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:96864516A>T uc001yfn.2 + 1 254 c.210A>T c.(208-210)aaA>aaT p.K70N AK7_uc001yfm.1_Missense_Mutation_p.K70N NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 70 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CCTCAACCAAAGTGAAGGAAG 0.507 JAG2 3714 broad.mit.edu 37 14 105609273 105609273 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr14:105609273C>T uc001yqg.3 - 25 3880 c.3476G>A c.(3475-3477)cGc>cAc p.R1159H JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H NM_002226 NP_002217 Q9Y219 JAG2_HUMAN Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA. 1159 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) gtccgccctgcgcggcggcgg 0.721 PIF1 80119 broad.mit.edu 37 15 65110455 65110455 + Splice_Site DEL C C - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr15:65110455delC uc002ant.2 - 10 1594 c.1528_splice c.e10+1 p.G510_splice PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 510 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CCAACACTTACCTCTCCCTTC 0.582 LRRK1 79705 broad.mit.edu 37 15 101595366 101595366 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr15:101595366G>A uc002bwr.3 + 26 4589 c.4270G>A c.(4270-4272)Gtg>Atg p.V1424M LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1424 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGCCCTAGGCGTGGAGGGCAC 0.567 APOBR 55911 broad.mit.edu 37 16 28507939 28507939 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:28507939C>T uc002dqb.2 + 1 1610 c.1577C>T c.(1576-1578)gCc>gTc p.A526V NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A55V NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 517 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 ACTCCAGAGGCCAGGCCTGAG 0.652 SLC5A2 6524 broad.mit.edu 37 16 31500623 31500623 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:31500623G>A uc002ecf.4 + 11 1648 c.1629G>A c.(1627-1629)acG>acA p.T543T SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 543 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.L542F(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCACCCTCACGGTCTCCCTGT 0.637 NOL3 8996 broad.mit.edu 37 16 67208819 67208819 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:67208819C>T uc010vjd.2 + 2 774 c.581C>T c.(580-582)cCg>cTg p.P194L NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P NM_001185057 NP_001171986 O60936 NOL3_HUMAN Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA. 194 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) agcccgagcccgacttcgaGG 0.672 FOXL1 2300 broad.mit.edu 37 16 86613224 86613224 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr16:86613224G>A uc002fjr.3 + 0 1110 c.895G>A c.(895-897)Gcc>Acc p.A299T NM_005250 NP_005241 Q12952 FOXL1_HUMAN Homo sapiens forkhead box L1 (FOXL1), mRNA. 299 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 CTCGCTCCTGGCCGCCTCCTC 0.672 TRPV1 7442 broad.mit.edu 37 17 3493599 3493599 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr17:3493599G>A uc010vro.2 - 3 725 c.692C>T c.(691-693)gCg>gTg p.A231V TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA. 231 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CCCATGGGCCGCAGCCTGGAC 0.572 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr17:39274424G>C uc002hvz.3 - 0 183 c.144C>G c.(142-144)agC>agG p.S48R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(4) 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 0.672 POTEC 388468 broad.mit.edu 37 18 14542809 14542809 + Missense_Mutation SNP C C T rs113041483 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr18:14542809C>T uc010dln.3 - 0 791 c.337G>A c.(337-339)Ggc>Agc p.G113S POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 113 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGCTCTTGCCGCTCCCCCTG 0.597 ABCA7 10347 broad.mit.edu 37 19 1056425 1056425 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:1056425C>T uc002lqw.4 + 32 4744 c.4513C>T c.(4513-4515)Cgc>Tgc p.R1505C ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1505 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity p.A1504V(1)|p.R1505L(1) NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCCGGCCCGCCACGCCCA 0.612 EMR1 2015 broad.mit.edu 37 19 6906478 6906478 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:6906478C>T uc002mfw.3 + 8 1022 c.984C>T c.(982-984)ccC>ccT p.P328P EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 328 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ATGTGATACCCGATAATAAGC 0.388 RAVER1 125950 broad.mit.edu 37 19 10434234 10434234 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:10434234G>A uc002moa.3 - 3 896 c.816C>T c.(814-816)tgC>tgT p.C272C NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA. 255 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CATCCTGGCCGCACGCCAGCT 0.667 ZNF676 163223 broad.mit.edu 37 19 22364159 22364159 + Missense_Mutation SNP G G C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:22364159G>C uc002nqs.1 - 2 678 c.360C>G c.(358-360)aaC>aaG p.N120K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TATGAAAGACGTTTGCATATT 0.328 PSG7 5676 broad.mit.edu 37 19 43441294 43441294 + Translation_Start_Site SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:43441294C>T uc002ovl.4 - 0 PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_5'UTR NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. female pregnancy extracellular region Prostate(69;0.00682) TTCCTGAGCACGGCTGTCAGC 0.617 C5AR1 728 broad.mit.edu 37 19 47823567 47823567 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:47823567G>A uc002pgj.1 + 1 582 c.533G>A c.(532-534)cGg>cAg p.R178Q NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 178 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CGGGTGGTCCGGGAGGAGTAC 0.637 SPHK2 56848 broad.mit.edu 37 19 49132307 49132307 + Silent SNP A A C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:49132307A>C uc002pjw.3 + 4 2125 c.1428A>C c.(1426-1428)tcA>tcC p.S476S SPHK2_uc010xzt.2_Silent_p.S355S|SPHK2_uc002pjt.3_Silent_p.S208S|SPHK2_uc002pjr.3_Silent_p.S414S|SPHK2_uc002pjs.3_Silent_p.S414S|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.S378S NM_001204160 NP_001191089 Q9NRA0 SPHK2_HUMAN Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA. 414 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) tggcccactcacccctgcatc 0.677 POLD1 5424 broad.mit.edu 37 19 50918754 50918754 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr19:50918754G>A uc010eny.3 + 19 2703 c.2702G>A c.(2701-2703)cGc>cAc p.R901H POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 875 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CTGTGCAACCGCATCGATATC 0.657 DNA polymerases (catalytic subunits) CCDC148 130940 broad.mit.edu 37 2 159215014 159215015 + Frame_Shift_Ins INS - - T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:159215014_159215015insT uc002tzq.3 - 1 407_408 c.93_94insA c.(91-96)caattgfs p.Q31fs CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs NM_138803 NP_620158 Q8NFR7 CC148_HUMAN Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA. 31 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AATGCACGCAATTGTTGATAGT 0.322 ITGB6 3694 broad.mit.edu 37 2 160993973 160993973 + Silent SNP G G A rs61737765 byFrequency TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:160993973G>A uc002ubh.2 - 9 1647 c.1632C>T c.(1630-1632)tgC>tgT p.C544C ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 544 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGTGTCTCACGCAGGAGAAAT 0.527 COL6A3 1293 broad.mit.edu 37 2 238275681 238275681 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr2:238275681C>T uc002vwl.2 - 10 5434 c.5149G>A c.(5149-5151)Gcc>Acc p.A1717T COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1717 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTAGTGTTGGCGTGTCTTCCC 0.542 SNX5 27131 broad.mit.edu 37 20 17929612 17929612 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr20:17929612C>T uc002wqc.3 - 9 926 c.840G>A c.(838-840)gaG>gaA p.E280E SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E NM_014426 NP_689413 Q9Y5X3 SNX5_HUMAN Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA. 280 BAR. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding p.E280D(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 11 AAACTCGACCCTCTACTTTCT 0.383 NCOA3 8202 broad.mit.edu 37 20 46264906 46264906 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr20:46264906C>T uc002xtk.3 + 11 2037 c.1776C>T c.(1774-1776)caC>caT p.H592H NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 592 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCAGAGATCACCTCAGTGACA 0.423 DSCAM 1826 broad.mit.edu 37 21 41455893 41455893 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr21:41455893C>T uc002yyq.1 - 23 4625 c.4173G>A c.(4171-4173)acG>acA p.T1391T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1391 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAGGAAGACGTGGTCTTGG 0.433 CDC45 8318 broad.mit.edu 37 22 19504408 19504408 + Missense_Mutation SNP A A C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:19504408A>C uc011aha.2 + 17 1802 c.1724A>C c.(1723-1725)gAc>gCc p.D575A CDC45_uc002zpr.3_Missense_Mutation_p.D543A|CDC45_uc002zpt.3_Missense_Mutation_p.D497A NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 543 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|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 centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AACCATTTTGACCTCTCAGGT 0.572 MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:20920814_20920816delCAG uc002zsp.3 + 6 831_833 c.751_753delCAG c.(751-753)cagdel p.Q262del MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.3_In_Frame_Del_p.Q262del|MED15_uc010gso.3_In_Frame_Del_p.Q262del|MED15_uc002zsr.3_In_Frame_Del_p.Q236del|MED15_uc011ahs.2_In_Frame_Del_p.Q236del|MED15_uc002zss.3_In_Frame_Del_p.Q181del|MED15_uc011ahu.2_5'UTR NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA. 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 abParts 96610 broad.mit.edu 37 22 22994945 22994950 + Splice_Site DEL ATGTGA ATGTGA - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr22:22994945_22994950delATGTGA uc021wml.1 + abParts_uc021wmm.1_Intron Parts of antibodies, mostly variable regions. gtgtgtgggtatgtgagtgtgagtgt 0.549 BSN 8927 broad.mit.edu 37 3 49689184 49689184 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:49689184G>A uc003cxe.4 + 4 2309 c.2195G>A c.(2194-2196)cGg>cAg p.R732Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 732 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCAGCATGCGGCCTTTGCTG 0.667 SEMA3G 56920 broad.mit.edu 37 3 52475289 52475289 + Silent SNP G G A rs138050174 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:52475289G>A uc003dea.1 - 6 804 c.804C>T c.(802-804)cgC>cgT p.R268R NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 268 Sema. multicellular organismal development extracellular region|membrane receptor activity p.R268C(1) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CCACGCAGACGCGGCCCACGC 0.612 PLXNA1 5361 broad.mit.edu 37 3 126733439 126733439 + Missense_Mutation SNP G G A rs138171477 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr3:126733439G>A uc003ejg.3 + 11 2723 c.2723G>A c.(2722-2724)aGc>aAc p.S908N NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 908 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GTGCTGTGCAGCCCTGTGGAG 0.701 D4S234E 27065 broad.mit.edu 37 4 4411320 4411320 + Silent SNP C C T rs143847165 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:4411320C>T uc011bvz.2 + 6 1548 c.267C>T c.(265-267)ttC>ttT p.F89F D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F NM_014392 NP_055207 P42857 NSG1_HUMAN Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA. 89 dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) TGGTCCTCTTCGCCCTGGCCT 0.617 UGT2A3 79799 broad.mit.edu 37 4 69795715 69795715 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:69795715C>T uc003hef.2 - 5 1431 c.1400G>A c.(1399-1401)cGc>cAc p.R467H UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 467 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCCTTTGTGGCGCATGACAAA 0.488 EGF 1950 broad.mit.edu 37 4 110864421 110864421 + Silent SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:110864421T>C uc003hzy.4 + 2 791 c.339T>C c.(337-339)aaT>aaC p.N113N EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 113 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GAGTATGTAATATAGAGAAAA 0.254 FAT4 79633 broad.mit.edu 37 4 126241369 126241369 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:126241369C>T uc003ifj.4 + 0 3803 c.3803C>T c.(3802-3804)aCa>aTa p.T1268I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1268 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGTCAGGTAACACTAATTGGC 0.373 INPP4B 8821 broad.mit.edu 37 4 143159105 143159105 + Nonsense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:143159105G>A uc003iix.4 - 12 1343 c.748C>T c.(748-750)Cga>Tga p.R250* INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121* NM_003866 NP_003857 O15327 INP4B_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA. 250 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.R250Q(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TCTCGAATTCGCATCCACTTA 0.318 SH3RF1 57630 broad.mit.edu 37 4 170043337 170043337 + Silent SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr4:170043337A>G uc003isa.1 - 6 1595 c.1260T>C c.(1258-1260)gcT>gcC p.A420A SH3RF1_uc010irc.1_Silent_p.A120A NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 420 Poly-Ala. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CAGCAGCAGCAGCGGCGGTGG 0.582 DNAH5 1767 broad.mit.edu 37 5 13719110 13719110 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:13719110C>T uc003jfd.2 - 71 12422 c.12380G>A c.(12379-12381)cGc>cAc p.R4127H DNAH5_uc003jfc.2_Missense_Mutation_p.R295H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4127 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATCCAGAGGCGGAACGCATC 0.493 Kartagener syndrome TRIO 7204 broad.mit.edu 37 5 14462975 14462975 + Missense_Mutation SNP C C G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:14462975C>G uc003jff.3 + 35 5614 c.5608C>G c.(5608-5610)Ccg>Gcg p.P1870A TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 1870 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CGTGCCCCTGCCGCCACCCAT 0.652 GDNF 2668 broad.mit.edu 37 5 37816010 37816010 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:37816010C>T uc011cpi.2 - 2 579 c.379G>A c.(379-381)Gtc>Atc p.V127I GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I NM_000514 NP_000505 P39905 GDNF_HUMAN Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA. 127 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) AAGTCAGTGACATTTAAATGT 0.493 PIK3R1 5295 broad.mit.edu 37 5 67589199 67589213 + In_Frame_Del DEL TAACCTTCAGTTCTG TAACCTTCAGTTCTG - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:67589199_67589213delTAACCTTCAGTTCTG uc003jva.3 + 9 1767_1781 c.1187_1201delTAACCTTCAGTTCTG c.(1186-1203)ttaaccttcagttctgtg>ttg p.TFSSV397del PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 397 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT 0.326 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) PCDHAC2 56142 broad.mit.edu 37 5 140208958 140208958 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:140208958C>T uc003lho.2 + 0 1309 c.1282C>T c.(1282-1284)Cgg>Tgg p.R428W PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 442 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTAACCGCGCGGGACGGGGG 0.617 PCDHGC5 56111 broad.mit.edu 37 5 140735359 140735359 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:140735359C>T uc003ljq.2 + 0 592 c.592C>T c.(592-594)Cgc>Tgc p.R198C PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 198 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTGGAACGCGCTCTAGA 0.562 PPARGC1B 133522 broad.mit.edu 37 5 149219665 149219665 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr5:149219665C>T uc003lrc.3 + 8 2771 c.2680C>T c.(2680-2682)Cgg>Tgg p.R894W PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 894 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGGAAGCGGCGGGAAAAGGC 0.577 NRN1 51299 broad.mit.edu 37 6 5999377 5999377 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr6:5999377C>T uc003mwu.3 - 2 912 c.261G>A c.(259-261)gcG>gcA p.A87A NRN1_uc021ykx.1_Non-coding_Transcript NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN Homo sapiens neuritin 1 (NRN1), mRNA. 87 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) ACATATCTTTCGCCCCTTCCT 0.527 DSP 1832 broad.mit.edu 37 6 7584664 7584664 + Missense_Mutation SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr6:7584664T>C uc003mxp.1 + 23 7448 c.7169T>C c.(7168-7170)aTa>aCa p.I2390T DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2390 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCAGTTGACATAGCATATAAG 0.443 GPR146 115330 broad.mit.edu 37 7 1098107 1098107 + Frame_Shift_Del DEL G G - rs147446123 TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:1098107delG uc003sjx.4 + 1 1155 c.956delG c.(955-957)cggfs p.R319fs C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs NM_138445 NP_612454 Q96CH1 GP146_HUMAN Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA. 319 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1) 8 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) TGCGGGGACCGGCACTGCTCC 0.617 PDE1C 5137 broad.mit.edu 37 7 31855673 31855673 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:31855673C>T uc003tcm.2 - 14 2139 c.1678G>A c.(1678-1680)Gca>Aca p.A560T PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 560 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTGCCAGATGCGCCTTCTTCA 0.502 CD36 948 broad.mit.edu 37 7 80295787 80295787 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:80295787G>A uc003uhc.3 + 10 1414 c.730G>A c.(730-732)Gac>Aac p.D244N CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N NM_001127444 NP_001120916 P16671 CD36_HUMAN Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA. 244 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 AAGTCACTGCGACATGATTAA 0.348 DPY19L2P2 349152 broad.mit.edu 37 7 102898149 102898149 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:102898149C>T uc003vbh.4 - 7 2232 c.41G>A c.(40-42)cGc>cAc p.R14H DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA. CATGAATGTGCGATACCAGGA 0.308 SLC26A4 5172 broad.mit.edu 37 7 107303838 107303838 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:107303838G>A uc003vep.3 + 2 486 c.262G>A c.(262-264)Gtc>Atc p.V88I LOC286002_uc003veo.3_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 88 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GCTTAGTGACGTCATTTCGGG 0.502 Pendred syndrome WDR91 29062 broad.mit.edu 37 7 134874110 134874110 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:134874110A>G uc003vsp.2 - 11 1816 c.1754T>C c.(1753-1755)gTc>gCc p.V585A WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A NM_014149 NP_054868 A4D1P6 WDR91_HUMAN Homo sapiens WD repeat domain 91 (WDR91), mRNA. 585 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CAGCCGGATGACGCCATCAGC 0.488 OR2F2 135948 broad.mit.edu 37 7 143632553 143632553 + Silent SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:143632553C>T uc011ktv.2 + 0 228 c.228C>T c.(226-228)agC>agT p.S76S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T75R(1)|p.T75T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ATGCCACAAGCGTAGTCCCCC 0.517 NOBOX 135935 broad.mit.edu 37 7 144098293 144098293 + Missense_Mutation SNP G G T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr7:144098293G>T uc022aoj.1 - 3 690 c.690C>A c.(688-690)caC>caA p.H230Q NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 230 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GCACTGGGTTGTGTGTGGCAC 0.617 ADAM28 10863 broad.mit.edu 37 8 24167473 24167473 + Frame_Shift_Del DEL A A - TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:24167473delA uc003xdy.3 + 2 300 c.217delA c.(217-219)aaafs p.K73fs ADAM28_uc003xdx.3_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 73 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.N75fs*15(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCTTTATTTGAAAAAAAACAA 0.333 DOCK5 80005 broad.mit.edu 37 8 25246735 25246735 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:25246735G>A uc003xeg.3 + 40 4397 c.4260G>A c.(4258-4260)tcG>tcA p.S1420S DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 1420 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ACATCAAGTCGTCCCCCAAGC 0.567 BRF2 55290 broad.mit.edu 37 8 37704528 37704528 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:37704528C>T uc003xkk.3 - 2 510 c.380G>A c.(379-381)cGa>cAa p.R127Q NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA. 127 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GTTATGCTGTCGGCAGGTGAT 0.527 SOX17 64321 broad.mit.edu 37 8 55371633 55371633 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:55371633C>T uc003xsb.4 + 1 527 c.323C>T c.(322-324)gCg>gTg p.A108V NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA. 108 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) TCGTGGAAGGCGCTGACGCTG 0.701 WDR67 93594 broad.mit.edu 37 8 124113069 124113069 + Missense_Mutation SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:124113069A>G uc003ypp.2 + 6 944 c.854A>G c.(853-855)gAt>gGt p.D285G WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript NM_145647 NP_663622 Q96DN5 WDR67_HUMAN Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA. 285 centrosome Rab GTPase activator activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTAAGTCAAGATGGTATTATG 0.353 ADCY8 114 broad.mit.edu 37 8 131896832 131896832 + Missense_Mutation SNP T T G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr8:131896832T>G uc003ytd.4 - 7 2343 c.2087A>C c.(2086-2088)aAa>aCa p.K696T ADCY8_uc010mds.3_Missense_Mutation_p.K696T NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 696 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCTGGAGTCTTTAAACATCAG 0.468 HNSCC(32;0.087) KIF24 347240 broad.mit.edu 37 9 34257897 34257897 + Nonsense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:34257897G>A uc003zua.4 - 10 1828 c.1708C>T c.(1708-1710)Cga>Tga p.R570* KIF24_uc010mkb.3_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN Homo sapiens kinesin family member 24 (KIF24), mRNA. 570 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCTGAATTCGTTTTGGAGAG 0.448 COL15A1 1306 broad.mit.edu 37 9 101810265 101810265 + Missense_Mutation SNP C C A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:101810265C>A uc004azb.1 + 27 2982 c.2776C>A c.(2776-2778)Cca>Aca p.P926T NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 926 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAAAGGAGATCCAGGGGTCAT 0.617 C9orf86 55684 broad.mit.edu 37 9 139726289 139726289 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chr9:139726289G>A uc004cjj.1 + 5 1032 c.575G>A c.(574-576)cGt>cAt p.R192H C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 192 Small GTPase-like. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GACGACGTGCGTGACTTCATC 0.677 ARSH 347527 broad.mit.edu 37 X 2931164 2931164 + Silent SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:2931164G>A uc011mhj.2 + 2 291 c.291G>A c.(289-291)acG>acA p.T97T NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 97 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCAATGAAACGACTTTTGCCA 0.552 ELK1 2002 broad.mit.edu 37 X 47496310 47496310 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:47496310C>T uc004dik.4 - 6 1527 c.1205G>A c.(1204-1206)aGc>aAc p.S402N ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript NM_001114123 NP_005220 P19419 ELK1_HUMAN Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA. 402 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CACCTGGGCGCTGCCACTGGA 0.597 ZNF182 7569 broad.mit.edu 37 X 47842806 47842806 + Silent SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:47842806T>C uc004dir.3 - 4 424 c.78A>G c.(76-78)ctA>ctG p.L26L ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript NM_006962 NP_008893 P17025 ZN182_HUMAN Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA. 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 CAAATGTCACTAGCCCCTGTA 0.463 WAS 7454 broad.mit.edu 37 X 48545194 48545194 + Missense_Mutation SNP T T G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:48545194T>G uc004dkm.4 + 6 641 c.584T>G c.(583-585)cTg>cGg p.L195R NM_000377 NP_000368 P42768 WASP_HUMAN Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA. 195 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCGCTCTCCCTGGGGCTGGCG 0.582 """Mis, N, F, S""" lymphoma SHROOM4 57477 broad.mit.edu 37 X 50377938 50377938 + Missense_Mutation SNP C C T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:50377938C>T uc004dpe.2 - 3 1161 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 379 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TTGGAATCCACGCTGGAAGCT 0.542 ERCC6L 54821 broad.mit.edu 37 X 71425657 71425657 + Missense_Mutation SNP T T C TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:71425657T>C uc004eaq.1 - 1 3057 c.2960A>G c.(2959-2961)aAt>aGt p.N987S PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 987 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TGCTCTGGAATTAGGTGCAGA 0.393 AMOT 154796 broad.mit.edu 37 X 112025789 112025789 + Missense_Mutation SNP C C A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:112025789C>A uc004epr.3 - 7 2237 c.2219G>T c.(2218-2220)cGt>cTt p.R740L AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 740 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GTCAAGGCAACGCTTATTGGC 0.453 FAM70A 55026 broad.mit.edu 37 X 119410875 119410875 + Nonsense_Mutation SNP G G T TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:119410875G>T uc004eso.4 - 7 839 c.612C>A c.(610-612)taC>taA p.Y204* FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA. 204 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2) 19 CGATGTATTCGTAGTACCCAC 0.582 GDI1 2664 broad.mit.edu 37 X 153666947 153666947 + Missense_Mutation SNP G G A TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57cf584c-8c95-42ec-9cb0-707228b70010 0de1bd85-87e3-4189-9c82-206b20e4428f g.chrX:153666947G>A uc004fli.4 + 1 466 c.124G>A c.(124-126)Gag>Aag p.E42K GDI1_uc011mzo.1_Missense_Mutation_p.E42K NM_001493 NP_001484 P31150 GDIA_HUMAN Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA. 42 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTACGGGGGCGAGAGCTCCTC 0.617