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 KIAA1751 85452 broad.mit.edu 37 1 1888126 1888126 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:1888126G>A uc001aim.1 - 16 2105 c.1949C>T c.(1948-1950)aCg>aTg p.T650M KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 650 p.T650S(1) breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CTTGAAAGTCGTGCCCAAGCC 0.582 TAS1R2 80834 broad.mit.edu 37 1 19166593 19166593 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:19166593G>A uc001bba.1 - 5 2021 c.2020C>T c.(2020-2022)Cgc>Tgc p.R674C NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 674 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCCTGGTAGCGGACCCAGTAG 0.572 GRHL3 57822 broad.mit.edu 37 1 24657929 24657929 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:24657929C>T uc021oiw.1 + 1 261 c.31C>T c.(31-33)Cgg>Tgg p.R11W GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 11 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CAGGTCTGTGCGGCTGCTAAA 0.512 KPRP 448834 broad.mit.edu 37 1 152732729 152732729 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:152732729G>A uc001fal.1 + 1 723 c.665G>A c.(664-666)cGg>cAg p.R222Q KPRP_uc021ozf.1_Missense_Mutation_p.R222Q NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 222 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCAGTATCGGTCCCGGACT 0.582 OR2L8 391190 broad.mit.edu 37 1 248112496 248112496 + Missense_Mutation SNP C C A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:248112496C>A uc001idt.1 + 0 337 c.337C>A c.(337-339)Ctt>Att p.L113I OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGAAGCACTACTTTTGGCATC 0.443 SMC3 9126 broad.mit.edu 37 10 112328741 112328741 + Missense_Mutation SNP G G C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:112328741G>C uc001kze.3 + 1 187 c.61G>C c.(61-63)Gat>Cat p.D21H NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 21 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AACAATTGTAGATCCCTTCAG 0.308 SMC3 9126 broad.mit.edu 37 10 112341821 112341821 + Missense_Mutation SNP C C G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:112341821C>G uc001kze.3 + 8 814 c.688C>G c.(688-690)Cag>Gag p.Q230E NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 230 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CATTTACAATCAGGAACTTAA 0.343 NHLRC2 374354 broad.mit.edu 37 10 115668096 115668096 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:115668096G>A uc001lax.2 + 10 2223 c.1982G>A c.(1981-1983)aGt>aAt p.S661N NHLRC2_uc001lay.2_Non-coding_Transcript NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA. 661 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) AACATTTCCAGTCAACCAACA 0.348 DAGLA 747 broad.mit.edu 37 11 61490356 61490356 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:61490356C>T uc001nsa.3 + 3 449 c.333C>T c.(331-333)taC>taT p.Y111Y NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 111 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) AGTTCATCTACGCCATCGTGG 0.607 CPT1A 1374 broad.mit.edu 37 11 68579934 68579934 + Silent SNP A A G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:68579934A>G uc001oog.4 - 2 422 c.252T>C c.(250-252)atT>atC p.I84I CPT1A_uc001oof.4_Silent_p.I84I NM_001876 NP_001867 P50416 CPT1A_HUMAN Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 84 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TGATTTTTGCAATTATTCCTA 0.473 P2RY2 5029 broad.mit.edu 37 11 72945705 72945705 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:72945705C>T uc021qna.1 + 0 501 c.501C>T c.(499-501)ccC>ccT p.P167P P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 167 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GCCAGGCCCCCGTGCTCTACT 0.721 ST14 6768 broad.mit.edu 37 11 130069961 130069961 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:130069961C>T uc001qfw.3 + 15 2116 c.1923C>T c.(1921-1923)tgC>tgT p.C641C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 641 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCCACATCTGCGGTGCTTCCC 0.627 SLC38A2 54407 broad.mit.edu 37 12 46757576 46757576 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:46757576C>T uc001rpg.3 - 11 1427 c.987G>A c.(985-987)aaG>aaA p.K329K SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K NM_018976 NP_061849 Q96QD8 S38A2_HUMAN Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA. 329 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAAATGAAATCTTGGACACAT 0.353 BAZ2A 11176 broad.mit.edu 37 12 57005685 57005685 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:57005685G>A uc001slq.1 - 5 1681 c.1487C>T c.(1486-1488)tCt>tTt p.S496F BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 496 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 AGTTACGGGAGAGGCTTTTGG 0.542 ALDH1L2 160428 broad.mit.edu 37 12 105455479 105455479 + Missense_Mutation SNP G G T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:105455479G>T uc001tlc.3 - 7 1100 c.973C>A c.(973-975)Cag>Aag p.Q325K ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 325 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 GAAAAGTACTGAGAGGCAGGG 0.408 TRPV4 59341 broad.mit.edu 37 12 110230485 110230485 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:110230485G>A uc001tpj.2 - 9 1891 c.1796C>T c.(1795-1797)aCg>aTg p.T599M TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 599 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding p.T599T(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 ATAGGTCCCCGTCAGCTTCAG 0.582 DNAH10 196385 broad.mit.edu 37 12 124330629 124330629 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:124330629C>T uc001uft.4 + 30 5413 c.5388C>T c.(5386-5388)taC>taT p.Y1796Y NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1796 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTACGGCTACGAGTACATGG 0.587 NYNRIN 57523 broad.mit.edu 37 14 24878300 24878300 + Missense_Mutation SNP C C A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr14:24878300C>A uc001wpf.4 + 3 1618 c.1300C>A c.(1300-1302)Cca>Aca p.P434T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 434 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGCTGGTAGACCAGATGGGGG 0.552 PLEK2 26499 broad.mit.edu 37 14 67864439 67864439 + Silent SNP G G T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr14:67864439G>T uc001xjh.1 - 1 199 c.147C>A c.(145-147)ggC>ggA p.G49G NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN Homo sapiens pleckstrin 2 (PLEK2), mRNA. 49 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GGAGGATCCGGCCCTTGGGAG 0.592 PEAK1 79834 broad.mit.edu 37 15 77473255 77473255 + Silent SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:77473255T>C uc021sqy.1 - 4 1590 c.1014A>G c.(1012-1014)tcA>tcG p.S338S PEAK1_uc002bcn.2_Silent_p.S338S|PEAK1_uc021sqz.1_5'Flank NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 338 Ser-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGGAGTCAGATGACACCATGC 0.423 CHRNB4 1143 broad.mit.edu 37 15 78921872 78921872 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:78921872C>T uc002bed.1 - 4 887 c.775G>A c.(775-777)Gac>Aac p.D259N CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 259 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TCGCCGCAGTCGGATGGCAGG 0.557 RASGRF1 5923 broad.mit.edu 37 15 79292172 79292172 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:79292172C>T uc002beq.3 - 17 3082 c.2707G>A c.(2707-2709)Gcc>Acc p.A903T RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 905 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.A903T(2) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAGGCAGAGGCGGCCGACAAG 0.562 NTRK3 4916 broad.mit.edu 37 15 88576210 88576210 + Missense_Mutation SNP A A G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:88576210A>G uc002bme.2 - 13 1769 c.1463T>C c.(1462-1464)aTc>aCc p.I488T NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 488 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.I488T(2)|p.I488I(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGCGTGGTGATGCCGTGGTT 0.607 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) SEPT12 124404 broad.mit.edu 37 16 4834042 4834042 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr16:4834042G>A uc002cxq.3 - 4 666 c.402C>T c.(400-402)aaC>aaT p.N134N SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA. 134 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CGTATTGCTCGTTGATGTAGC 0.627 IQCK 124152 broad.mit.edu 37 16 19729642 19729642 + Missense_Mutation SNP G G C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr16:19729642G>C uc002dgr.3 + 1 713 c.14G>C c.(13-15)cGg>cCg p.R5P IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN Homo sapiens IQ motif containing K (IQCK), mRNA. 5 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 GCGGCACCGCGGCAAATCCCC 0.692 ODF4 146852 broad.mit.edu 37 17 8243550 8243550 + Missense_Mutation SNP C C T rs147153349 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr17:8243550C>T uc002gle.1 + 0 363 c.181C>T c.(181-183)Cgc>Tgc p.R61C NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA. 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.R61S(2) endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 CTTGGGCCAGCGCCAGAACTC 0.592 RHBDL3 162494 broad.mit.edu 37 17 30632431 30632431 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr17:30632431G>A uc010csx.1 + RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I P58872 RHBL3_HUMAN Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA. proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) GTATGCTCTCGTCTCTGCCCA 0.542 POLRMT 5442 broad.mit.edu 37 19 622950 622950 + Missense_Mutation SNP C C A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:622950C>A uc002lpf.1 - 6 1382 c.1326G>T c.(1324-1326)gaG>gaT p.E442D NM_005035 NP_005026 O00411 RPOM_HUMAN Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA. 442 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) ACAGTGCTTTCTCCCATTGGT 0.672 PODNL1 79883 broad.mit.edu 37 19 14046600 14046600 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:14046600G>A uc002mxr.3 - 4 723 c.449C>T c.(448-450)gCg>gTg p.A150V PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA. 150 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) AGCCAGATCCGCGACACGGAG 0.667 EMR2 30817 broad.mit.edu 37 19 14857101 14857101 + Missense_Mutation SNP A A C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:14857101A>C uc002mzp.1 - 17 2582 c.2126T>G c.(2125-2127)aTt>aGt p.I709S EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA. 709 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GTTTTTCAAAATCCAGAGAGT 0.388 CPAMD8 27151 broad.mit.edu 37 19 17086872 17086872 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:17086872G>A uc002nfb.3 - 15 2021 c.1989C>T c.(1987-1989)gtC>gtT p.V663V NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 616 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CAACTGCGGCGACGCACACAC 0.597 FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:35940788_35940790delCTG uc002nzg.2 + 1 252_254 c.172_174delCTG c.(172-174)ctgdel p.L62del FFAR2_uc010eea.3_In_Frame_Del_p.L62del NM_005306 NP_005297 O15552 FFAR2_HUMAN Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA. 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 ZFP30 22835 broad.mit.edu 37 19 38126468 38126468 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:38126468G>A uc002ogv.1 - 5 1490 c.974C>T c.(973-975)cCc>cTc p.P325L ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATTCATAGGGTTTTTCTCC 0.438 MAP4K1 11184 broad.mit.edu 37 19 39086283 39086283 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:39086283C>T uc002oix.1 - 27 2374 c.2266G>A c.(2266-2268)Gtg>Atg p.V756M MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M NM_007181 NP_009112 Q92918 M4K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA. 756 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACAGACCCACGGCCTCCACC 0.622 LILRA1 11024 broad.mit.edu 37 19 55107682 55107682 + Silent SNP G G A rs138767008 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:55107682G>A uc002qgh.1 + 6 1169 c.987G>A c.(985-987)tcG>tcA p.S329S LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 329 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCTTCATCTCGGTGCATCCGG 0.612 NLRP8 126205 broad.mit.edu 37 19 56466478 56466478 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:56466478G>A uc002qmh.3 + 2 1125 c.1054G>A c.(1054-1056)Gta>Ata p.V352I NLRP8_uc010etg.3_Missense_Mutation_p.V352I NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 352 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCCCTCTCTCGTAACCCTTCC 0.458 EHD3 30845 broad.mit.edu 37 2 31483602 31483602 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:31483602C>T uc002rnu.3 + 3 1337 c.729C>T c.(727-729)atC>atT p.I243I EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 243 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TGGGGAAGATCGTGAACACCC 0.592 SLC35F5 80255 broad.mit.edu 37 2 114489225 114489225 + Missense_Mutation SNP G G T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:114489225G>T uc002tku.1 - 10 1335 c.921_splice c.e10-1 p.S307_splice SLC35F5_uc002tkt.3_Splice_Site NM_025181 NP_079457 Q8WV83 S35F5_HUMAN Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA. 307 DUF6. transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CGCCTCCAATGCTATGAGAAT 0.373 GCA 25801 broad.mit.edu 37 2 163204201 163204201 + Silent SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:163204201T>C uc002ucg.3 + 1 317 c.141T>C c.(139-141)taT>taC p.Y47Y NM_012198 NP_036330 P28676 GRAN_HUMAN Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA. 47 cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 CAGACACTTATTCCTCAGCTG 0.443 ITGA4 3676 broad.mit.edu 37 2 182374515 182374515 + Missense_Mutation SNP A A C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:182374515A>C uc002unu.3 + 15 2589 c.1826A>C c.(1825-1827)aAa>aCa p.K609T ITGA4_uc010frj.1_Missense_Mutation_p.K91T NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 609 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAGAAAGAAAAAGACATAATG 0.333 COL4A4 1286 broad.mit.edu 37 2 227924195 227924195 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:227924195G>A uc021vxr.1 - 26 2410 c.2309C>T c.(2308-2310)cCg>cTg p.P770L COL4A4_uc021vxs.1_Missense_Mutation_p.P770L NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 770 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTCTTTCCCGGGGGTCCCAG 0.612 CASS4 57091 broad.mit.edu 37 20 55027872 55027872 + Missense_Mutation SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr20:55027872T>C uc002xxp.2 + 5 1865 c.1640T>C c.(1639-1641)cTt>cCt p.L547P CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 547 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTGGAAGTTCTTGTGACTGAC 0.493 TMPRSS15 5651 broad.mit.edu 37 21 19744570 19744570 + Missense_Mutation SNP A A T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr21:19744570A>T uc002ykw.3 - 5 635 c.604T>A c.(604-606)Tta>Ata p.L202I NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 202 LDL-receptor class A 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TCACAAAATAAATCAGCTTTT 0.383 ICOSLG 23308 broad.mit.edu 37 21 45655287 45655287 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr21:45655287C>T uc010gpp.1 - 3 699 c.565G>A c.(565-567)Gtc>Atc p.V189I ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I NM_015259 NP_056074 O75144 ICOSL_HUMAN Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA. 189 Ig-like C2-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TTCAAGAAGACGGTGTCATTC 0.552 LTF 4057 broad.mit.edu 37 3 46490484 46490484 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:46490484C>T uc003cpq.3 - 8 1323 c.1082G>A c.(1081-1083)cGt>cAt p.R361H LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 361 cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GACCCGCGCACGCCGGGCAGC 0.667 DHX30 22907 broad.mit.edu 37 3 47890010 47890010 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:47890010G>A uc003cru.3 + 15 2971 c.2545G>A c.(2545-2547)Gac>Aac p.D849N DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA. 849 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAAGGCAGTGGACGAGGCTGT 0.622 IFRD2 7866 broad.mit.edu 37 3 50327467 50327467 + Missense_Mutation SNP C C G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:50327467C>G uc003czb.3 - 7 937 c.937G>C c.(937-939)Gtg>Ctg p.V313L IFRD2_uc011bdp.2_Missense_Mutation_p.V211L NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 211 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCCAGCTGCACGCAGAGCAGG 0.637 GPR15 2838 broad.mit.edu 37 3 98251667 98251667 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:98251667G>A uc011bgy.2 + 0 790 c.790G>A c.(790-792)Gcc>Acc p.A264T NM_005290 NP_005281 P49685 GPR15_HUMAN Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA. 264 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAAGTTCCTGGCCATTGTCTC 0.453 TRPC1 7220 broad.mit.edu 37 3 142524983 142524983 + Missense_Mutation SNP A A G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:142524983A>G uc003evc.3 + 12 2424 c.2288A>G c.(2287-2289)gAa>gGa p.E763G TRPC1_uc003evb.3_Missense_Mutation_p.E729G NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 763 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 AATCTAAACGAACTGCGCCAA 0.373 CPZ 8532 broad.mit.edu 37 4 8605806 8605806 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:8605806G>A uc003glm.3 + 3 774 c.600G>A c.(598-600)acG>acA p.T200T CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 200 T -> M (in Ref. 4; BC006393). proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGAGGCGGACGGCCTCCCGCT 0.701 FRAS1 80144 broad.mit.edu 37 4 79366682 79366682 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:79366682G>A uc003hlb.2 + 41 6112 c.5672G>A c.(5671-5673)cGt>cAt p.R1891H FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1890 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCAGGTGATCGTTTTGGCCCT 0.393 ALPK1 80216 broad.mit.edu 37 4 113351620 113351620 + Missense_Mutation SNP G G T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:113351620G>T uc003ian.4 + 10 1144 c.917G>T c.(916-918)tGt>tTt p.C306F ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 306 ATP binding|protein serine/threonine kinase activity p.T305T(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CGTGGCACGTGTTTATTGTCC 0.398 PRSS48 345062 broad.mit.edu 37 4 152203364 152203364 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:152203364C>T uc011cif.2 + 2 280 c.280C>T c.(280-282)Cgt>Tgt p.R94C PRSS48_uc011cig.2_Intron NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN Homo sapiens protease, serine, 48 (PRSS48), mRNA. 94 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CTCAAGGAAACGTGTGAAGTA 0.473 CDH18 1016 broad.mit.edu 37 5 19520782 19520782 + Missense_Mutation SNP T T A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:19520782T>A uc003jgd.3 - 9 2030 c.1496A>T c.(1495-1497)aAt>aTt p.N499I CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 499 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGGCTTAGAATTTTCACATAC 0.393 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:41382221C>T uc003jmm.1 - 1 621 c.519G>A c.(517-519)gcG>gcA p.A173A NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAAAAATCGCTGGGCACA 0.428 FGF18 8817 broad.mit.edu 37 5 170883763 170883763 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:170883763C>T uc003mbk.3 + 4 1115 c.578C>T c.(577-579)aCg>aTg p.T193M NM_003862 NP_003853 O76093 FGF18_HUMAN Homo sapiens fibroblast growth factor 18 (FGF18), mRNA. 193 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAGTACACGACGGTGACCAAG 0.657 BCLAF1 9774 broad.mit.edu 37 6 136600997 136600997 + Missense_Mutation SNP C C T rs148729378 byFrequency TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:136600997C>T uc003qgx.1 - 2 261 c.8G>A c.(7-9)cGc>cAc p.R3H BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 3 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.R3H(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGAATTGGAGCGACCCATTTC 0.308 ESR1 2099 broad.mit.edu 37 6 152265483 152265483 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:152265483C>T uc010kio.3 + 4 1160 c.942C>T c.(940-942)gcC>gcT p.A314A ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A NM_001122742 NP_001116214 P03372 ESR1_HUMAN Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA. 312 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding p.A312A(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CCCTGACGGCCGACCAGATGG 0.547 SYNE1 23345 broad.mit.edu 37 6 152461284 152461284 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:152461284C>T uc021zhb.1 - 137 25482 c.25259G>A c.(25258-25260)cGa>cAa p.R8420Q SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 8420 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGCTCCCATCGGTCAATCAC 0.458 HNSCC(10;0.0054) ADAM22 53616 broad.mit.edu 37 7 87795154 87795154 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:87795154G>A uc003ujn.3 + 23 2299 c.2084G>A c.(2083-2085)aGt>aAt p.S695N ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 695 EGF-like. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CAGGTTTGCAGTAATGAGCTG 0.368 ZNF3 7551 broad.mit.edu 37 7 99672770 99672770 + Missense_Mutation SNP C C G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:99672770C>G uc003uss.3 - 1 598 c.280G>C c.(280-282)Gtg>Ctg p.V94L ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L P17036 ZNF3_HUMAN Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA. 87 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AGTGAGAACACATTCCCGTAA 0.458 MUC17 140453 broad.mit.edu 37 7 100674888 100674888 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:100674888C>T uc003uxp.1 + 2 244 c.191C>T c.(190-192)gCg>gTg p.A64V MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 64 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAGGTTCTGCGGCAAACACC 0.418 CCDC136 64753 broad.mit.edu 37 7 128434467 128434469 + In_Frame_Del DEL GAA GAA - TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:128434467_128434469delGAA uc003vnv.2 + 1 498_500 c.82_84delGAA c.(82-84)gaadel p.E32del CCDC136_uc003vnu.2_In_Frame_Del_p.E82del NM_022742 NP_073579 Q96JN2 CC136_HUMAN Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA. 32 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 agaagaggtggaagaagaagaag 0.552 TAS2R41 259287 broad.mit.edu 37 7 143174982 143174982 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:143174982C>T uc003wdc.1 + 0 17 c.17C>T c.(16-18)aCg>aTg p.T6M LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 6 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GCAGCACTGACGGCCTTCTTC 0.572 TAS2R41 259287 broad.mit.edu 37 7 143175836 143175836 + Nonsense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:143175836C>T uc003wdc.1 + 0 871 c.871C>T c.(871-873)Cga>Tga p.R291* LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 291 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCTCAAGCTTCGAAGCGTGTT 0.502 KCNB2 9312 broad.mit.edu 37 8 73849053 73849053 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:73849053C>T uc003xzb.3 + 2 2051 c.1463C>T c.(1462-1464)tCg>tTg p.S488L NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 488 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AATCACCTGTCGCCAAGCCGG 0.527 KIAA1429 25962 broad.mit.edu 37 8 95547143 95547143 + Silent SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:95547143T>C uc003ygo.2 - 4 479 c.408A>G c.(406-408)agA>agG p.R136R KIAA1429_uc003ygp.3_Silent_p.R136R NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 136 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) gtggAGAGTCTCTGTCATGAC 0.448 PKHD1L1 93035 broad.mit.edu 37 8 110476724 110476724 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:110476724G>A uc003yne.3 + 48 7767 c.7663G>A c.(7663-7665)Gat>Aat p.D2555N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2555 immune response cytosol|extracellular space|integral to membrane receptor activity p.D2557N(2) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTTCTGAATGATGATGTGAC 0.443 HNSCC(38;0.096) SLC45A4 57210 broad.mit.edu 37 8 142229845 142229845 + Missense_Mutation SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:142229845C>T uc003ywd.1 - 2 669 c.361G>A c.(361-363)Gcc>Acc p.A121T SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 172 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GTGGCATCGGCGCTGAAGTCC 0.657 CYLC2 1539 broad.mit.edu 37 9 105767804 105767804 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr9:105767804G>A uc004bbs.2 + 4 961 c.891G>A c.(889-891)acG>acA p.T297T NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 297 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.T297T(4)|p.A296A(1)|p.T297M(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) aggacgccacgaaagatgcca 0.388 MAGEB6 158809 broad.mit.edu 37 X 26212572 26212572 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:26212572G>A uc022buc.1 + 0 609 c.609G>A c.(607-609)gcG>gcA p.A203A MAGEB6_uc004dbr.3_Silent_p.A203A NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 203 MAGE. p.A203A(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GCACGTTGGCGCAATTCCTGC 0.478 FAM70A 55026 broad.mit.edu 37 X 119410833 119410833 + Silent SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:119410833G>A uc004eso.4 - 7 881 c.654C>T c.(652-654)ctC>ctT p.L218L FAM70A_uc004esp.4_Silent_p.L194L|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. 218 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2) 19 GCAGGTGGTAGAGGTGGATGA 0.542 SAGE1 55511 broad.mit.edu 37 X 134986679 134986679 + Silent SNP C C T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:134986679C>T uc004ezh.3 + 3 431 c.264C>T c.(262-264)aaC>aaT p.N88N SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 88 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGATAAATAACGGCCAACCAG 0.443 GPR112 139378 broad.mit.edu 37 X 135430793 135430793 + Missense_Mutation SNP C C T rs146283448 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:135430793C>T uc004ezu.1 + 5 5219 c.4928C>T c.(4927-4929)aCg>aTg p.T1643M GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1643 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P1642H(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCACACCTACGACCTTTCTC 0.468 DNASE1L1 1774 broad.mit.edu 37 X 153633852 153633852 + Missense_Mutation SNP G G A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:153633852G>A uc004fks.1 - 1 249 c.58C>T c.(58-60)Cgc>Tgc p.R20C DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C NM_006730 NP_006721 P49184 DNSL1_HUMAN Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA. 20 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GCGCAGATGCGAAAGGCCTGG 0.607