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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GRIN2A 2903 broad.mit.edu 37 16 9858028 9858028 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:9858028C>T uc010uym.2 - 13 3683 c.3373G>A c.(3373-3375)Gag>Aag p.E1125K GRIN2A_uc002czo.4_Missense_Mutation_p.E1125K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E968K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1125K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1125 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1125*(4) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCAGGCTCCTTCTCACCA 0.507000 137 8 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43639630 43639630 + Silent SNP G T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:43639630G>T uc004dfz.4 - 9 1214 c.1038C>A c.(1036-1038)gcC>gcA p.A346A MAOB_uc011mkx.2_Silent_p.A330A|MAOB_uc011mky.2_Silent_p.A330A NM_000898 NP_000889 P27338 AOFB_HUMAN Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA. 346 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TGGCTTTGTGGGCCAGGATAA 0.423000 26 3 1.024e-07 1.03717e-07 1 1 0 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:51174110G>A uc021tif.1 - 1 2054 c.1732C>T c.(1732-1734)Cct>Tct p.P578S SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 675 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P577H(1)|p.P675S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCCCAAAAGGAAACTTGGCC 0.582000 103 8 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83402023 83402023 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:83402023C>T uc004eej.2 - 4 420 c.384G>A c.(382-384)gtG>gtA p.V128V RPS6KA6_uc011mqt.2_Silent_p.V128V|RPS6KA6_uc011mqu.2_Silent_p.V25V|RPS6KA6_uc010nmo.1_Non-coding_Transcript NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 128 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.V128E(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GATTTACTTCCACCAGTATAT 0.284000 63 7 0 0 1 0 0 C1orf201 90529 broad.mit.edu 37 1 24696257 24696257 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:24696257G>A uc001bjc.3 - 6 811 c.644C>T c.(643-645)aCc>aTc p.T215I C1orf201_uc010oej.2_Missense_Mutation_p.T43I|C1orf201_uc001bjb.3_Missense_Mutation_p.T123I|C1orf201_uc001bja.3_Missense_Mutation_p.T168I|C1orf201_uc001bjd.3_Missense_Mutation_p.T215I|C1orf201_uc001bjf.3_Missense_Mutation_p.T83I NM_001199013 NP_001185942 Q5TH74 CA201_HUMAN Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA. 215 p.P215P(1) breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 15 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) TCCACGGTTGGTTTTTGATTT 0.403000 77 5 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50375998 50375998 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:50375998C>T uc010qgo.2 - 1 79 c.53G>A c.(52-54)gGa>gAa p.G18E C10orf128_uc001jhl.4_Non-coding_Transcript|C10orf128_uc001jhn.4_Missense_Mutation_p.G18E|C10orf128_uc001jho.4_Missense_Mutation_p.G18E Q5T292 CJ128_HUMAN Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA. 18 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 CACTTGAGCTCCTCCTACATC 0.572000 99 4 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853834 40853834 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:40853834G>A uc003jmg.3 + 2 2475 c.2400G>A c.(2398-2400)atG>atA p.M800I NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 800 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAAGATTCATGAAATTTTCCA 0.473000 360 27 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432922 55432922 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:55432922G>A uc010rik.2 + 0 280 c.280G>A c.(280-282)Ggc>Agc p.G94S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G94V(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTCTCTCAAAGGCTGCCTCAC 0.517000 65 5 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128489239 128489239 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:128489239C>T uc003vnz.4 + 28 5141 c.4932C>T c.(4930-4932)tcC>tcT p.S1644S FLNC_uc003voa.4_Silent_p.S1644S NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1644 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCCAGTGTCCATTGGAGGCC 0.657000 47 4 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71503934 71503934 + Missense_Mutation SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:71503934A>G uc004agu.3 + 6 661 c.356A>G c.(355-357)aAc>aGc p.N119S PIP5K1B_uc011lrq.2_Missense_Mutation_p.N119S|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 119 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding p.N119S(1) breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GAACTGTCTAACCCTGGAGCC 0.388000 95 6 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T C C rs142470496 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:29091840T>C uc003adu.1 - 10 1189 c.1117A>G c.(1117-1119)Aag>Gag p.K373E CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E NM_007194 NP_009125 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA. 373 Protein kinase. DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(18)|p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 55 6 0 0 1 0 0 PRSS45 377047 broad.mit.edu 37 3 46784439 46784439 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:46784439C>T uc010hjl.3 - 2 452 c.417G>A c.(415-417)atG>atA p.M139I PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript NM_199183 NP_954652 Q7RTY3 PRS45_HUMAN Homo sapiens protease, serine, 45 (PRSS45), mRNA. 171 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 TGGCACAGATCATGTCCCCCA 0.532000 21 3 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843076 123843076 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:123843076C>T uc001lfv.3 + 3 1421 c.1061C>T c.(1060-1062)gCc>gTc p.A354V TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A354V|TACC2_uc010qtv.2_Missense_Mutation_p.A354V NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 354 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCAAGTCCTGCCCTGGTGCCA 0.617000 58 10 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171073016 171073016 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:171073016C>T uc001ghi.3 + 2 334 c.223C>T c.(223-225)Ccc>Tcc p.P75S FMO3_uc001ghh.3_Missense_Mutation_p.P75S|FMO3_uc010pmb.2_Missense_Mutation_p.P55S|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 75 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCCATTTCCCGATGACTT 0.423000 66 4 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102965042 102965042 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:102965042C>T uc003hvy.4 + 10 2221 c.1947C>T c.(1945-1947)ttC>ttT p.F649F BANK1_uc003hvx.4_Silent_p.F634F|BANK1_uc010ill.3_Silent_p.F516F|BANK1_uc003hvz.4_Silent_p.F619F NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 649 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) ATGACAAGTTCTGTGGTCTTC 0.308000 101 10 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259363 43259363 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:43259363C>T uc002ouo.2 - 3 863 c.765G>A c.(763-765)aaG>aaA p.K255K PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.K255K|PSG8_uc010ein.3_Silent_p.K133K|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 255 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTAAGACATCCTTATTCTCCC 0.483000 228 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067233 9067233 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9067233C>T uc002mkp.3 - 2 20417 c.20213G>A c.(20212-20214)cGa>cAa p.R6738Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6740 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCTGTTCGAGTGATGAT 0.502000 215 24 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525494 176525494 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176525494G>A uc001gkz.3 + 1 1200 c.36G>A c.(34-36)gcG>gcA p.A12A PAPPA2_uc001gky.1_Silent_p.A12A|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 12 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TAAGCCTGGCGATTTTGGCTG 0.512000 130 9 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133945853 133945853 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:133945853G>A uc003ytw.3 + 23 4905 c.4864G>A c.(4864-4866)Gag>Aag p.E1622K TG_uc010mdw.3_Missense_Mutation_p.E381K|TG_uc011ljb.2_Missense_Mutation_p.E55K NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1622 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCCACGACGGAGCCAGAGAT 0.572000 135 8 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171251205 171251205 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:171251205G>A uc009wvz.3 + 6 1052 c.916G>A c.(916-918)Gta>Ata p.V306I FMO1_uc010pme.2_Missense_Mutation_p.V243I|FMO1_uc001ghl.3_Missense_Mutation_p.V306I|FMO1_uc001ghm.3_Missense_Mutation_p.V306I NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 306 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATAAAAGAGGTAAAGGAAAA 0.408000 36 6 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23079465 23079465 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:23079465G>A uc002dll.3 - 15 3961 c.3961C>T c.(3961-3963)Ccc>Tcc p.P1321S USP31_uc002dlk.3_Missense_Mutation_p.P593S|USP31_uc010vca.2_Missense_Mutation_p.P624S|USP31_uc010bxm.3_Missense_Mutation_p.P609S NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1321 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGAGACGAGGGAACTCCAGAG 0.507000 112 8 0 0 1 0 0 OR4F17 81099 broad.mit.edu 37 19 110723 110723 + Silent SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:110723A>G uc002loc.1 + 0 45 c.45A>G c.(43-45)ggA>ggG p.G15G OR4F17_uc002lob.1_Silent_p.G15G NM_001005240 NP_001005240 Q8NGA8 O4F17_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA. 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q14H(1) lung(2) 2 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) ATTCTCAGGGACTCCAGACCT 0.403000 488 21 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697401 153697401 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:153697401C>T uc004flm.3 + 25 4610 c.4437C>T c.(4435-4437)acC>acT p.T1479T NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1479 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) CCCCTCAGACCCTTCACTGCG 0.622000 61 7 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022107 120022107 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:120022107G>A uc003ksq.3 + 1 781 c.618G>A c.(616-618)cgG>cgA p.R206R PRR16_uc003ksp.3_Silent_p.R183R|PRR16_uc003ksr.3_Silent_p.R136R NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 206 Pro-rich. p.R206S(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AACGAGTTCGGTTTAATGAAA 0.478000 44 5 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70513913 70513913 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:70513913G>A uc003xyg.2 + 8 1471 c.910G>A c.(910-912)Ggg>Agg p.G304R SULF1_uc010lza.1_Missense_Mutation_p.G304R|SULF1_uc003xyd.2_Missense_Mutation_p.G304R|SULF1_uc003xye.2_Missense_Mutation_p.G304R|SULF1_uc003xyf.2_Missense_Mutation_p.G304R|SULF1_uc003xyh.1_Non-coding_Transcript NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 304 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding p.G304R(2) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CGTGGAGACGGGGGAGCTGGA 0.448000 96 4 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092442 30092442 + RNA SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:30092442C>T uc010dmc.3 + 0 c.817C>T Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. CTCCTCAAGTCGTGCAGATGT 0.547000 78 7 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77301835 77301835 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:77301835G>A uc004ecx.4 + 22 4431 c.4271G>A c.(4270-4272)aGc>aAc p.S1424N NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 1424 ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCTGCCCGGAGCCAGATAGGA 0.423000 166 7 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284094 152284094 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152284094C>T uc001ezu.1 - 2 3304 c.3268G>A c.(3268-3270)Gga>Aga p.G1090R AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1090 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) CCATCCTGTCCATGGCCTGAC 0.577000 Ichthyosis 474 63 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2581424 2581424 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:2581424G>A uc003smi.3 - 7 1350 c.1062C>T c.(1060-1062)ctC>ctT p.L354L BRAT1_uc003smh.4_5'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 354 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TGGAGGCCAGGAGTGTGTCCA 0.687000 28 3 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668999 53668999 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:53668999G>A uc010eqm.1 - 3 844 c.744C>T c.(742-744)aaC>aaT p.N248N NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GACCTGCAAGGTTTGAAGGTT 0.393000 80 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569660 179569660 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179569660C>T uc021vsy.1 - 100 26131 c.25906G>A c.(25906-25908)Gaa>Aaa p.E8636K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5297K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9563 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTCCTTTTCGTCCCTCTCT 0.328000 112 8 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137713982 137713982 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:137713982C>T uc004cfe.3 + 58 4976 c.4594C>T c.(4594-4596)Ccc>Tcc p.P1532S BC058547_uc004cff.3_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1532 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCTCCTGGGCCCCCTGGCCT 0.612000 91 6 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46276031 46276031 + Missense_Mutation SNP G A A rs146235035 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:46276031G>A uc002xtk.3 + 17 3728 c.3467G>A c.(3466-3468)cGa>cAa p.R1156Q NCOA3_uc002xtl.3_Missense_Mutation_p.R1156Q|NCOA3_uc002xtn.3_Missense_Mutation_p.R1156Q|NCOA3_uc010ght.2_Missense_Mutation_p.R1151Q|NCOA3_uc002xtm.3_Missense_Mutation_p.R1156Q|NCOA3_uc010zyc.2_Missense_Mutation_p.R951Q NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 1156 Acetyltransferase. 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 ATGCACCCACGAGCCAACATC 0.493000 52 6 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202096 53202096 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:53202096G>A uc001saz.3 - 5 1329 c.1329C>T c.(1327-1329)atC>atT p.I443I NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 369 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TGATGTTCTCGATCTCTGCCC 0.532000 154 12 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1212511 1212511 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:1212511C>T uc003jbw.4 + 3 631 c.575C>T c.(574-576)tCc>tTc p.S192F NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 192 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACTCGGGCTCCATCCAGTGG 0.622000 105 6 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575823 49575823 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:49575823C>T uc002xvy.1 + 0 461 c.444C>T c.(442-444)ctC>ctT p.L148L DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. 148 Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 TGCGCCGCCTCAATTCGGCAG 0.647000 84 7 0 0 1 0 0 OR4F17 81099 broad.mit.edu 37 19 110726 110726 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:110726C>T uc002loc.1 + 0 48 c.48C>T c.(46-48)ctC>ctT p.L16L OR4F17_uc002lob.1_Silent_p.L16L NM_001005240 NP_001005240 Q8NGA8 O4F17_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(2) 2 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) CTCAGGGACTCCAGACCTTCC 0.398000 477 21 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33958990 33958990 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:33958990G>A uc001bxj.4 + 6 1815 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T ZSCAN20_uc009vui.3_Missense_Mutation_p.A549T NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 550 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTACCGGAAAGCCAAGAGCAG 0.597000 88 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152550864 152550864 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:152550864G>A uc021vrb.1 - 17 1898 c.1869C>T c.(1867-1869)tcC>tcT p.S623S NEB_uc002txu.3_Silent_p.S623S|NEB_uc021vrc.1_Silent_p.S623S|NEB_uc010fnx.3_Silent_p.S623S|NEB_uc021vrd.1_Silent_p.S623S|NEB_uc010fny.2_Silent_p.S177S NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 623 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACCTTCAAGGAGTGCAGCA 0.408000 150 10 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121726307 121726307 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:121726307C>T uc010flp.3 + 4 691 c.661C>T c.(661-663)Ccg>Tcg p.P221S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P91L|GLI2_uc010flo.1_Missense_Mutation_p.P96S|GLI2_uc002tmw.1_Missense_Mutation_p.P221S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 221 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTTCTCCAGCCCGCGGGTGAC 0.647000 86 9 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990442 63990442 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:63990442C>T uc003peh.3 - 3 1048 c.1014G>A c.(1012-1014)acG>acA p.T338T LGSN_uc003pei.3_Missense_Mutation_p.R198Q NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 338 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TCCCAGTGATCGTGAGCTGCT 0.488000 74 5 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762262 96762262 + Missense_Mutation SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:96762262A>G uc003htr.4 + 0 1024 c.961A>G c.(961-963)Aga>Gga p.R321G NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 321 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCTCCAAGATAGAATGGTAAA 0.423000 71 11 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101767251 101767251 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:101767251G>A uc004azb.1 + 8 1478 c.1272G>A c.(1270-1272)ggG>ggA p.G424G NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 424 4 X tandem repeats.|Nonhelical region 1 (NC1). 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) GCATGCCTGGGGAAGTGGAGG 0.617000 85 7 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5448398 5448398 + Splice_Site SNP A C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:5448398A>C uc003gih.1 + 7 627 c.563_splice c.e7-2 p.A188_splice STK32B_uc010ida.1_Splice_Site_p.A141_splice NM_018401 NP_060871 Q9NY57 ST32B_HUMAN Homo sapiens serine/threonine kinase 32B (STK32B), mRNA. 188 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 TCTCGTTGGCAGCTCCAGAAG 0.522000 35 5 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726333 168726333 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:168726333C>T uc021vsc.1 + 0 784 c.784C>T c.(784-786)Cac>Tac p.H262Y B3GALT1_uc002udz.1_Missense_Mutation_p.H262Y NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 262 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AAGGCTGCTTCACCTTGAAGA 0.473000 53 6 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71008511 71008511 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:71008511C>T uc003dol.3 - 16 2244 c.1921G>A c.(1921-1923)Gat>Aat p.D641N FOXP1_uc003dom.3_Missense_Mutation_p.D565N|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.D641N|FOXP1_uc003doo.3_Missense_Mutation_p.D640N|FOXP1_uc003dop.3_Missense_Mutation_p.D641N|FOXP1_uc021xao.1_Missense_Mutation_p.D657N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.D541N|FOXP1_uc003dok.3_Missense_Mutation_p.D567N|FOXP1_uc003doj.3_Missense_Mutation_p.D643N NM_001244814 NP_001231743 Q9H334 FOXP1_HUMAN Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA. 641 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCCTCTGGATCGAGGGGCTCT 0.498000 T PAX5 ALL 53 4 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104121053 104121053 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:104121053C>T uc001tjw.3 + 46 5046 c.4860C>T c.(4858-4860)ttC>ttT p.F1620F STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1620 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.F1620F(2) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGAGCATTTCGTGAAAGATC 0.512000 251 10 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112912 59112912 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:59112912C>T uc001xdw.3 + 3 1735 c.1571C>T c.(1570-1572)cCc>cTc p.P524L DACT1_uc010trv.2_Missense_Mutation_p.P243L|DACT1_uc001xdx.3_Missense_Mutation_p.P487L|DACT1_uc010trw.2_Missense_Mutation_p.P243L NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 524 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCCACTCCTCCCCTGCTGTCT 0.607000 97 11 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119077539 119077539 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:119077539C>T uc004esh.3 - 0 197 c.30G>A c.(28-30)ccG>ccA p.P10P NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN Homo sapiens NFKB activating protein (NKAP), mRNA. 10 Ser-rich. Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CCTCCCTATCCGGGCTGCGTG 0.701000 46 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072845 9072845 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9072845C>T uc002mkp.3 - 2 14805 c.14601G>A c.(14599-14601)atG>atA p.M4867I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4869 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTGTCTTCCATGGTGGAGG 0.458000 130 16 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713770 23713770 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:23713770C>T uc002dma.4 - 9 1335 c.1166G>A c.(1165-1167)aGc>aAc p.S389N ERN2_uc010bxp.3_Missense_Mutation_p.S389N|ERN2_uc010bxq.1_Missense_Mutation_p.S197N NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 341 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AACAGCAGTGCTGGGTGAGCC 0.577000 134 7 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50547094 50547094 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:50547094C>T uc003bjj.3 + 4 647 c.564C>T c.(562-564)atC>atT p.I188I MOV10L1_uc003bjk.4_Silent_p.I188I|MOV10L1_uc011arp.2_Silent_p.I168I NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 188 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding p.C187S(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGGTCTGCATCTCTAGCCTCT 0.562000 109 6 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901185 102901185 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:102901185C>T uc001ylw.2 + 8 2257 c.2031C>T c.(2029-2031)ccC>ccT p.P677P TECPR2_uc010awl.3_Silent_p.P677P|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 677 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCGTGGAGCCCAGCCAAGAGC 0.577000 33 3 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163241426 163241426 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:163241426C>T uc002uch.2 - 12 2963 c.2734G>A c.(2734-2736)Gac>Aac p.D912N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 912 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTGCAGAGTCTTCAGGATCA 0.343000 80 5 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86200549 86200550 + Missense_Mutation DNP CC TT TT TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:86200549_86200550CC>TT uc001dlj.3 - 58 4955_4956 c.4880_4881GG>AA c.(4879-4881)agg>aAA p.R1627K COL24A1_uc001dli.3_Missense_Mutation_p.R742K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R927K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1627 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCTTGTCCACCTTGGGGTGTT 0.441000 96 9 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229838 87229838 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:87229838C>T uc003ydq.1 - 2 1138 c.1040G>A c.(1039-1041)gGa>gAa p.G347E SLC7A13_uc003ydr.1_Missense_Mutation_p.G338E NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 347 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TGCAAGGGATCCCAAAGTGAC 0.343000 91 8 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359121 178359121 + Silent SNP C T T rs115468106 by1000genomes TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:178359121C>T uc003mjn.1 + 4 1316 c.807C>T c.(805-807)ccC>ccT p.P269P ZFP2_uc010jky.2_Silent_p.P269P|ZFP2_uc010jkx.1_Silent_p.P269P|ZFP2_uc021yjb.1_Silent_p.P269P NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA. 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAGAAAAACCCTATGAGTGTA 0.378000 72 6 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242709 60242709 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:60242709C>T uc002lip.4 + 12 3395 c.3395C>T c.(3394-3396)tCa>tTa p.S1132L ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S602L NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA. 1132 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.V1131A(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GGGAATGTCTCATGTTACAAT 0.483000 41 3 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140237490 140237490 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140237490C>T uc003lhx.2 + 0 1857 c.1857C>T c.(1855-1857)atC>atT p.I619I 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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.I619I NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 631 Cadherin 6. 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) GTGCACGCATCCCGTTTCGCG 0.637000 23 4 0 0 1 0 0 UNC119B 84747 broad.mit.edu 37 12 121157743 121157743 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:121157743C>T uc001tyz.3 + 4 1111 c.664C>T c.(664-666)Cct>Tct p.P222S NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA. 222 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATTGAAAATCCTTACGAGAC 0.443000 52 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495059 179495059 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179495059G>A uc021vsy.1 - 187 36711 c.36486C>T c.(36484-36486)tcC>tcT p.S12162S MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.S5857S|TTN_uc021vta.1_Silent_p.S5790S|TTN_uc021vtb.1_Silent_p.S5665S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13089 Ig-like 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAAACAAGGGAGTGTATTT 0.393000 31 4 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220789319 220789319 + Silent SNP T C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:220789319T>C uc009xdw.3 + 6 1131 c.534T>C c.(532-534)atT>atC p.I178I MARK1_uc001hmn.4_Silent_p.I178I|MARK1_uc010pun.2_Silent_p.I178I|MARK1_uc001hmm.4_Silent_p.I156I NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 178 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AAAAGTACATTGTTCACCGTG 0.254000 44 8 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28986090 28986090 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:28986090G>A uc002kwr.2 + 11 1822 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K DSG4_uc002kwq.2_Missense_Mutation_p.E563K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 563 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGATTTTATGAAATCCCAAT 0.438000 55 8 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113699951 113699951 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:113699951G>A uc001poh.3 - 9 1060 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S USP28_uc001pog.3_Missense_Mutation_p.P51S|USP28_uc010rwy.2_Missense_Mutation_p.P218S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P343S NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 343 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGATCGGAGGGAAGAAGCTCA 0.493000 52 4 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119887018 119887018 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:119887018G>A uc011bjf.2 - 8 1686 c.1306C>T c.(1306-1308)Cct>Tct p.P436S GPR156_uc011bjg.2_Missense_Mutation_p.P432S NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 436 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GCCATGCCAGGATCATTCTGA 0.617000 26 4 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418435 178418435 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:178418435C>T uc003mjr.3 - 2 1026 c.847G>A c.(847-849)Gat>Aat p.D283N GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 283 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTGATGTCATCCTCATTGGCA 0.592000 167 12 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73668615 73668616 + Missense_Mutation DNP GT AA AA rs11538014 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:73668615_73668616GT>AA uc003uaj.3 - 0 123_124 c.98_99AC>TT c.(97-99)cac>cTT p.H33L RFC2_uc003uak.3_Missense_Mutation_p.H33L NM_181471 NP_852136 P35250 RFC2_HUMAN Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA. 33 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 GCAGTTCGTAGTGGCCGGCGCT 0.693000 16 3 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99223095 99223095 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:99223095G>A uc001tge.2 - 18 3340 c.2923C>T c.(2923-2925)Cca>Tca p.P975S ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.P272S|ANKS1B_uc010svd.2_5'UTR|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_5'UTR|ANKS1B_uc010svf.2_5'UTR|ANKS1B_uc010sve.2_5'UTR|ANKS1B_uc001tgh.4_5'UTR|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.P201S|ANKS1B_uc009zts.2_Missense_Mutation_p.P201S|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 975 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTAAGTGATGGAGACAACTGA 0.433000 64 10 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925732 55925732 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:55925732C>T uc003pcs.3 - 25 2541 c.2309G>A c.(2308-2310)gGg>gAg p.G770E COL21A1_uc010jzz.3_Missense_Mutation_p.G155E|COL21A1_uc011dxg.2_Missense_Mutation_p.G143E|COL21A1_uc011dxh.2_Missense_Mutation_p.G155E|COL21A1_uc003pcr.3_Missense_Mutation_p.G127E NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 770 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTGGATCCCCAGGTTGCCC 0.517000 29 4 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444108 15444108 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:15444108C>T uc003gno.3 + 2 835 c.576C>T c.(574-576)ttC>ttT p.F192F C1QTNF7_uc011bxb.2_Silent_p.F185F|C1QTNF7_uc003gnp.3_Silent_p.F185F NM_001135170 NP_114117 Q9BXJ2 C1QT7_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA. 185 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CAGGGAAGTTCATCTGTGCTT 0.438000 250 15 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868132 20868132 + Missense_Mutation SNP C T T rs150378278 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:20868132C>T uc010sii.2 + 6 944 c.589C>T c.(589-591)Cgt>Tgt p.R197C SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Missense_Mutation_p.R31C|SLCO1C1_uc001rei.3_Missense_Mutation_p.R197C|SLCO1C1_uc010sik.2_Missense_Mutation_p.R79C NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 197 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.R197C(5) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAATCTTCTTCGTGGAATAGG 0.413000 128 8 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188318 152188318 + Silent SNP G C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152188318G>C uc001ezt.1 - 2 5863 c.5787C>G c.(5785-5787)ggC>ggG p.G1929G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1929 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGACGGGAGCCAGACCCAT 0.577000 691 12 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84607504 84607504 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:84607504C>T uc004amn.3 + 3 2166 c.2119C>T c.(2119-2121)Cat>Tat p.H707Y NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 707 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 CCGCAGAATCCATGAGTCTCT 0.483000 66 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059723 9059723 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9059723G>A uc002mkp.3 - 2 27927 c.27723C>T c.(27721-27723)gtC>gtT p.V9241V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9243 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAGCTAGGACAGAGGAAG 0.458000 75 8 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811091 5811091 + Missense_Mutation SNP C T T rs149065055 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:5811091C>T uc010ndi.3 - 6 2793 c.2329G>A c.(2329-2331)Gat>Aat p.D777N NLGN4X_uc004crp.3_Missense_Mutation_p.D760N|NLGN4X_uc010ndh.3_Missense_Mutation_p.D740N|NLGN4X_uc004crq.3_Missense_Mutation_p.D740N|NLGN4X_uc004crr.3_Missense_Mutation_p.D740N|NLGN4X_uc010ndj.3_Missense_Mutation_p.D740N NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 740 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D740N(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CACTCGTGATCGTGTTCCAGC 0.577000 75 5 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84217325 84217325 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:84217325G>A uc002fhn.3 - 2 440 c.198C>T c.(196-198)ctC>ctT p.L66L TAF1C_uc010vnz.2_Intron|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Intron|TAF1C_uc002fhm.3_5'UTR|TAF1C_uc010vnx.2_Silent_p.L66L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.L66L NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 66 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GCAGCATGGGGAGAGGCCCAG 0.597000 71 4 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178560518 178560518 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:178560518G>A uc003fjd.3 + 4 844 c.501G>A c.(499-501)agG>agA p.R167R AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.R167R|KCNMB2_uc003fjf.3_Silent_p.R167R|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Non-coding_Transcript NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA. 167 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity p.F166I(1) NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) AAAACTTCAGGAAGTATCAAC 0.393000 49 4 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135630985 135630985 + Missense_Mutation SNP C A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135630985C>A uc004ezy.3 + 2 622 c.452C>A c.(451-453)cCc>cAc p.P151H MIR934_uc022cev.1_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CATCCCTTCCCCGCTCGGCAC 0.622000 162 12 9.31168e-06 9.40122e-06 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34189858 34189858 + Silent SNP G A A rs5773426 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:34189858G>A uc001bxm.1 - 18 3117 c.2940C>T c.(2938-2940)ttC>ttT p.F980F CSMD2_uc001bxn.1_Silent_p.F940F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 940 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGAAGTCAGGGAACCCTGGCG 0.532000 29 3 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909456 123909456 + Missense_Mutation SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:123909456A>G uc001pzq.1 - 0 253 c.253T>C c.(253-255)Tcc>Ccc p.S85P NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S85S(1) 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) CCGCTTGGGGACACCAAGGTC 0.532000 124 7 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916236 45916236 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:45916236G>A uc002imd.3 - 4 819 c.693C>T c.(691-693)tcC>tcT p.S231S SCRN2_uc002imf.3_Silent_p.S231S NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA. 231 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCTGGGTCAGGGAGAAGATCT 0.662000 142 10 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418737 55418737 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:55418737C>T uc001nhs.1 + 0 358 c.358C>T c.(358-360)Cgt>Tgt p.R120C NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(2) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GGCCTATGATCGTTATGTGGC 0.428000 91 14 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283967 152283967 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152283967C>T uc001ezu.1 - 2 3431 c.3395G>A c.(3394-3396)gGg>gAg p.G1132E AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1132 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) CCTGGTCCGCCCATGGGCAGA 0.592000 Ichthyosis 307 17 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887447 25887447 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:25887447G>A uc001isj.3 + 10 2952 c.2892G>A c.(2890-2892)gcG>gcA p.A964A GPR158_uc001isk.3_Silent_p.A339A NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 964 integral to membrane|plasma membrane G-protein coupled receptor activity p.P963L(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAAATCCTGCGGAGGAGCCAA 0.463000 117 6 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942294 24942294 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:24942294G>A uc002dnb.3 - 18 2419 c.2326C>T c.(2326-2328)Cct>Tct p.P776S ARHGAP17_uc002dmw.3_Missense_Mutation_p.P38S|ARHGAP17_uc002dmy.3_Missense_Mutation_p.P221S|ARHGAP17_uc002dmz.3_Missense_Mutation_p.P300S|ARHGAP17_uc002dna.3_Missense_Mutation_p.P503S|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P698S|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P519S NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 776 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding p.P775P(1) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AGGGTCTGAGGAGCTGGCAGA 0.607000 113 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179416811 179416811 + Nonsense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179416811C>T uc021vsy.1 - 283 83337 c.83112G>A c.(83110-83112)tgG>tgA p.W27704* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W21399*|TTN_uc021vta.1_Nonsense_Mutation_p.W21332*|TTN_uc021vtb.1_Nonsense_Mutation_p.W21207* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28631 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACCATCTTCCAGTTAGTTT 0.423000 91 9 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31558829 31558829 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:31558829C>T uc002rnv.1 - 35 4076 c.3997G>A c.(3997-3999)Gtc>Atc p.V1333I NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1333 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCTCTTTAGACCCTCACAGAC 0.498000 70 6 0 0 1 0 0 MRPS25 64432 broad.mit.edu 37 3 15093989 15093989 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:15093989C>T uc003bzl.3 - 3 596 c.481G>A c.(481-483)Ggg>Agg p.G161R MRPS25_uc011avl.2_3'UTR|MRPS25_uc011avm.1_Intron NM_022497 NP_071942 P82663 RT25_HUMAN Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA. 161 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 TTGTACTTCCCCCTCATCTCC 0.602000 167 12 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85422156 85422156 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:85422156G>A uc001dkm.3 - 3 764 c.523C>T c.(523-525)Cct>Tct p.P175S MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 175 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TCATTAGAAGGAAACATGGTC 0.398000 120 11 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133098868 133098868 + Missense_Mutation SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:133098868A>G uc003epi.3 + 3 583 c.313A>G c.(313-315)Acc>Gcc p.T105A TMEM108_uc003eph.3_Missense_Mutation_p.T105A|TMEM108_uc003epj.1_Missense_Mutation_p.T105A|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 105 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGCGACAGTAACCGCCCCCCA 0.667000 63 6 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 1624740 1624740 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:1624740C>T uc003mtq.3 - 9 1235 c.1023G>A c.(1021-1023)caG>caA p.Q341Q GMDS_uc021ykn.1_Silent_p.Q311Q NM_001500 NP_001491 O60547 GMDS_HUMAN Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA. 341 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion GDP-mannose 4,6-dehydratase activity|coenzyme binding GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) AGTTCAGCTTCTGTTTCGCTT 0.667000 28 3 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823612 70823612 + Missense_Mutation SNP A G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:70823612A>G uc004eae.2 + 7 986 c.485A>G c.(484-486)aAc>aGc p.N162S BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 162 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCTGACGACAACAGTGATGAT 0.493000 306 4 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147715 129147715 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129147715C>T uc022cdu.1 + 2 1011 c.967C>T c.(967-969)Cct>Tct p.P323S BCORL1_uc010nrd.1_Missense_Mutation_p.P225S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 323 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 tcctgtgcccccttcagctcc 0.672000 15 3 0 0 1 0 0 LOC643486 643486 broad.mit.edu 37 X 95592490 95592490 + RNA SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:95592490C>T uc010nmx.3 - 0 c.412G>A Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA. CTCTGATTTTCTTGAGATGCT 0.373000 43 5 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322527 134322528 + Missense_Mutation DNP CC TT TT TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:134322527_134322528CC>TT uc010hty.3 - 10 1941_1942 c.1879_1880GG>AA c.(1879-1881)gga>AAa p.G627K KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.G606K NM_178554 NP_848649 Q8NBH2 KY_HUMAN Homo sapiens kyphoscoliosis peptidase (KY), mRNA. 0 Z disc|cytoskeleton peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GCTGCAGCTTCCCTCCCAGTAG 0.520000 92 5 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201012551 201012551 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:201012551C>T uc001gvv.3 - 39 5133 c.4906G>A c.(4906-4908)Gaa>Aaa p.E1636K NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1636 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCCATCTCTTCCATCTCTATC 0.562000 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 13 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246848 7246848 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:7246848G>A uc002ggd.2 + 5 701 c.495G>A c.(493-495)ggG>ggA p.G165G NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 165 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CTCGAGCTGGGTACCGGGGAC 0.652000 65 6 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104056703 104056703 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:104056703G>A uc001tjw.3 + 17 2135 c.1949G>A c.(1948-1950)gGa>gAa p.G650E NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 650 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACACTGACAGGAGTTCTCATT 0.418000 126 9 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17570670 17570670 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:17570670G>A uc001bah.1 + 15 2016 c.1924G>A c.(1924-1926)Gag>Aag p.E642K PADI1_uc010oco.1_Missense_Mutation_p.E199K|PADI1_uc010ocp.1_Missense_Mutation_p.E157K|PADI1_uc010ocq.1_Missense_Mutation_p.E113K|PADI1_uc009vpb.1_Silent_p.G35G NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 642 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GCTGCAGGGGGAGATCCACTG 0.617000 72 4 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861881 25861881 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:25861881C>T uc003nfk.4 - 4 706 c.596G>A c.(595-597)cGa>cAa p.R199Q SLC17A3_uc003nfi.4_Missense_Mutation_p.R121Q|SLC17A3_uc011djz.1_Missense_Mutation_p.R199Q|SLC17A3_uc011dka.1_Missense_Mutation_p.R121Q NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 121 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GAGTCTGCTTCGTTCTTGTGG 0.428000 110 4 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77271293 77271293 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:77271293C>T uc004ecx.4 + 11 2701 c.2541C>T c.(2539-2541)atC>atT p.I847I NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 847 ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.D846E(1) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GTGGAGATATCATTAAAGTAG 0.398000 134 11 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877088 16877088 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:16877088C>T uc001ioo.3 - 63 10339 c.10287G>A c.(10285-10287)caG>caA p.Q3429Q NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 3429 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGTGGTTCTGGGGGGCTG 0.453000 57 5 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135582869 135582869 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135582869C>T uc004ezw.3 + 4 884 c.462C>T c.(460-462)tcC>tcT p.S154S HTATSF1_uc004ezx.3_Silent_p.S154S NM_001163280 NP_055315 O43719 HTSF1_HUMAN Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA. 154 RRM 1. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus RNA binding|nucleotide binding|protein binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) AACTTATGTCCAAGTTTGGCA 0.303000 98 7 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939527 40939527 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:40939527C>T uc002ibj.3 + 6 1776 c.1708C>T c.(1708-1710)Ctt>Ttt p.L570F WNK4_uc010wgx.2_Missense_Mutation_p.L234F|WNK4_uc002ibk.1_Missense_Mutation_p.L342F|WNK4_uc010wgy.1_5'UTR NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 570 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCAGCCCTTCCTTTTCCGCCA 0.622000 180 22 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901064 123901064 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:123901064C>T uc001pzp.1 + 0 735 c.735C>T c.(733-735)atC>atT p.I245I NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I245I(2) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) CCCACTGTATCGTGGTCCTTT 0.537000 68 7 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44130997 44130997 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:44130997G>A uc002oxc.1 - 3 487 c.438C>T c.(436-438)ctC>ctT p.L146L NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN Homo sapiens cell adhesion molecule 4 (CADM4), mRNA. 146 Ig-like C2-type 1. cell adhesion integral to membrane p.L146F(1) endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) ACCGCGGAACGAGGCAGCTGA 0.682000 77 7 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103303 71103303 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:71103303G>A uc002ezr.3 - 13 1992 c.1841C>T c.(1840-1842)tCa>tTa p.S614L HYDIN_uc010cfz.2_Missense_Mutation_p.S359L|HYDIN_uc021tkq.1_Missense_Mutation_p.S614L|HYDIN_uc010vmc.2_Missense_Mutation_p.S631L|HYDIN_uc010vmd.2_Missense_Mutation_p.S641L|HYDIN_uc002ezw.4_Missense_Mutation_p.S631L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 614 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTCACAATATGAAATGCTTTT 0.428000 80 6 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57859603 57859603 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:57859603G>A uc001snx.3 + 6 751 c.657G>A c.(655-657)gaG>gaA p.E219E GLI1_uc021qzi.1_Silent_p.E178E|GLI1_uc009zpq.3_Silent_p.E91E NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 219 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) ATGGGCGGGAGGACCTCGAGA 0.562000 79 7 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960908 73960908 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:73960908G>A uc004eby.3 - 2 4101 c.3484C>T c.(3484-3486)Cca>Tca p.P1162S NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1162 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGACCAGATGGATCATTAAAT 0.373000 95 5 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45885690 45885690 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:45885690G>A uc002ilx.1 - 22 2699 c.2496C>T c.(2494-2496)ggC>ggT p.G832G OSBPL7_uc002ilw.1_Silent_p.G394G NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 832 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TGTTCCCATAGCCTGGCTCGG 0.657000 59 4 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4500618 4500618 + Splice_Site SNP A T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:4500618A>T uc002fyf.1 + 7 1326 c.1259_splice c.e7+1 p.E420_splice SMTNL2_uc002fye.2_Splice_Site_p.E276_splice NM_001114974 NP_940903 Q2TAL5 SMTL2_HUMAN Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA. 420 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) ACCATGGCCGAGTGAGTATGG 0.632000 80 8 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68728456 68728456 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:68728456C>T uc003jwq.3 + 3 1359 c.1285C>T c.(1285-1287)Ccc>Tcc p.P429S MARVELD2_uc010ixf.3_Missense_Mutation_p.P417S|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 429 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) TGGACACATCCCCCCAGGCCA 0.478000 51 5 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398581 10398581 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:10398581G>A uc002gmo.3 - 35 5317 c.5223C>T c.(5221-5223)atC>atT p.I1741I AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1741 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTCTCCCTGGATTTGGGAAA 0.448000 116 6 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994211 140994211 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:140994211C>T uc004fbt.3 + 3 1345 c.1021C>T c.(1021-1023)Cct>Tct p.P341S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 341 protein binding p.P341S(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGATTCCTATGACCTC 0.468000 HNSCC(15;0.026) 245 21 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583956 35583956 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:35583956C>T uc003xjr.2 + 9 1918 c.1590C>T c.(1588-1590)atC>atT p.I530I UNC5D_uc003xjs.2_Silent_p.I525I|UNC5D_uc003xju.2_Silent_p.I106I|UNC5D_uc003xjt.1_Silent_p.I288I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 530 apoptosis|axon guidance integral to membrane receptor activity p.I525I(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCCCTACATCCAAAATCTGT 0.473000 98 7 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413745 72413745 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:72413745C>T uc003twk.2 + 10 3213 c.3213C>T c.(3211-3213)tcC>tcT p.S1071S POM121_uc003twj.3_Silent_p.S806S|POM121_uc010lam.1_Silent_p.S806S NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1071 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CCACCAGCTCCGGCTTTGGAG 0.657000 64 4 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282971 152282971 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152282971C>T uc001ezu.1 - 2 4427 c.4391G>A c.(4390-4392)gGa>gAa p.G1464E AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1464 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) TCCTTGTCTTCCTCCAGTGCT 0.567000 Ichthyosis 246 35 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176852083 176852083 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176852083G>A uc001glc.3 - 19 3486 c.3274C>T c.(3274-3276)Cct>Tct p.P1092S ASTN1_uc001glb.1_Missense_Mutation_p.P1092S|ASTN1_uc001gld.1_Missense_Mutation_p.P1092S NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1100 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATTGCACAAGGAGACTTTGCT 0.493000 65 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076180 9076180 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9076180C>T uc002mkp.3 - 2 11470 c.11266G>A c.(11266-11268)Ggg>Agg p.G3756R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3757 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.Q3755Q(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTGTGGCCCCCTGAGGAGCT 0.532000 119 7 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295800 212295800 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:212295800C>T uc002veg.1 - 20 2611 c.2513G>A c.(2512-2514)cGa>cAa p.R838Q ERBB4_uc002veh.1_Missense_Mutation_p.R838Q|ERBB4_uc010zji.1_Missense_Mutation_p.R828Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R828Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 838 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATGAACGAGTCGTCTTTCTTC 0.393000 TSP Lung(8;0.080) 88 7 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383212 152383212 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152383212C>T uc001ezx.2 - 2 420 c.346G>A c.(346-348)Gga>Aga p.G116R NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 116 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCTCTGTCCTTCGCCCAGC 0.617000 350 17 0 0 1 0 0 LOC283788 283788 broad.mit.edu 37 GL000219.1 83245 83245 + Missense_Mutation SNP T C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrGL000219.1:83245T>C uc022brb.1 - 3 422 c.109A>G c.(109-111)Agt>Ggt p.S37G LOC283788_uc011mfq.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA. GCTGTTTTACTTTTTGCTTCT 0.363000 40 3 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354403 42354403 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:42354403C>T uc010xwe.2 + 6 862 c.779C>T c.(778-780)cCc>cTc p.P260L DMRTC2_uc002orr.1_Missense_Mutation_p.P137L|DMRTC2_uc002ors.3_Missense_Mutation_p.P260L NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 260 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 ATACTCCAGCCCTGTGGCACC 0.532000 244 24 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416478 9416478 + Silent SNP C T T rs34042091 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:9416478C>T uc010oae.2 + 1 867 c.528C>T c.(526-528)tcC>tcT p.S176S SPSB1_uc001apv.3_Silent_p.S176S NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA. 176 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) TCCCTGACTCCTTCCTGGTAG 0.532000 123 14 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889204 147889204 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:147889204G>A uc021yfj.1 - 4 938 c.891C>T c.(889-891)ttC>ttT p.F297F HTR4_uc021yfg.1_Silent_p.F297F|HTR4_uc021yfh.1_Silent_p.F297F|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.F297F|HTR4_uc011dby.1_Silent_p.F297F|HTR4_uc003lpn.3_Silent_p.F297F|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.F297F NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 297 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CGAGCCAGAGGAAAGCAGTCC 0.488000 57 4 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104176434 104176434 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:104176434C>T uc001kvg.1 - 1 889 c.362G>A c.(361-363)gGg>gAg p.G121E PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.G121E|PSD_uc001kvi.1_Missense_Mutation_p.G121E|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 121 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACTCAAGCCCCCTGGAGCAGG 0.657000 50 10 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894466 166894466 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:166894466C>T uc002udo.4 - 16 2993 c.2766G>A c.(2764-2766)aaG>aaA p.K922K SCN1A_uc010fpk.3_Silent_p.K894K|SCN1A_uc021vsb.1_Silent_p.K911K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 922 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CACTGGCGATCTTGCAGACAC 0.498000 106 14 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589843 140589843 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140589843C>T uc003liz.3 + 0 1553 c.1364C>T c.(1363-1365)tCc>tTc p.S455F PCDHB12_uc011dak.2_Missense_Mutation_p.S118F NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 455 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAAACTTCCTACGCCCTG 0.612000 131 5 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100129997 100129997 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:100129997C>T uc003huo.2 - 5 750 c.656G>A c.(655-657)aGg>aAg p.R219K LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.R10K|ADH6_uc003hup.4_Missense_Mutation_p.R219K|ADH6_uc010ile.3_Missense_Mutation_p.R219K NM_001102470 NP_001095940 P28332 ADH6_HUMAN Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA. 219 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding p.A218P(1) breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TCCAATGATCCTGGCTGCTCC 0.488000 263 22 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566609 55566609 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:55566609C>T uc010qhq.2 - 34 5168 c.4773G>A c.(4771-4773)ctG>ctA p.L1591L PCDH15_uc010qhr.2_Silent_p.L1586L NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.L1592L(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATAATGTGTTCAGAGGTACAT 0.473000 HNSCC(58;0.16) 213 13 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159170629 159170629 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:159170629G>A uc001ftl.2 + 8 1293 c.1114G>A c.(1114-1116)Gat>Aat p.D372N CADM3_uc001ftk.2_Missense_Mutation_p.D406N|LOC100131825_uc001ftm.2_Non-coding_Transcript NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 372 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGCTCCGACGATGCTCCAGA 0.572000 83 6 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039151 184039151 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:184039151C>T uc003fnp.3 + 9 1050 c.779C>T c.(778-780)tCg>tTg p.S260L EIF4G1_uc003fno.2_Missense_Mutation_p.S201L|EIF4G1_uc010hxw.2_Missense_Mutation_p.S96L|EIF4G1_uc010hxx.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnq.3_Missense_Mutation_p.S173L|EIF4G1_uc003fnr.3_Missense_Mutation_p.S96L|EIF4G1_uc003fns.3_Missense_Mutation_p.S220L|EIF4G1_uc003fnv.4_Missense_Mutation_p.S260L|EIF4G1_uc003fnw.3_Missense_Mutation_p.S267L|EIF4G1_uc003fnx.3_Missense_Mutation_p.S64L NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 260 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCAGCCTTCGTCGCCTTCT 0.572000 67 4 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51640337 51640337 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:51640337G>A uc004dpn.3 + 5 1814 c.1624G>A c.(1624-1626)Gac>Aac p.D542N MAGED1_uc004dpm.3_Missense_Mutation_p.D486N|MAGED1_uc004dpo.3_Missense_Mutation_p.D486N NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 486 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GATGCTTAAGGACTACACAAA 0.428000 Multiple Myeloma(10;0.10) 70 5 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135392921 135392921 + Nonsense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:135392921C>T uc003vtb.3 - 2 995 c.306G>A c.(304-306)tgG>tgA p.W102* SLC13A4_uc003vta.3_Nonsense_Mutation_p.W102* NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA. 102 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TATGCAGGTTCCACTTCTCCA 0.592000 131 12 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 59 5 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567238 136567238 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:136567238G>A uc002tuu.1 - 7 2690 c.2679C>T c.(2677-2679)ttC>ttT p.F893F NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 893 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATCTCTTTCGAACTTGGGTT 0.522000 118 6 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228473847 228473847 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:228473847C>T uc009xez.1 + 33 9117 c.9073C>T c.(9073-9075)Cgt>Tgt p.R3025C OBSCN_uc001hsn.3_Missense_Mutation_p.R3025C|OBSCN_uc001hsq.1_Missense_Mutation_p.R281C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3025 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding p.R3025P(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCACCTTCCGTTGCCGGAT 0.632000 17 3 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962881 94962881 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:94962881C>T uc001ydj.3 - 3 1530 c.734G>A c.(733-735)gGc>gAc p.G245D NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 245 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTGGTATATGCCACTACGGAA 0.438000 147 9 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883382 52883382 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:52883382G>A uc003gzi.3 - 0 405 c.398C>T c.(397-399)tCc>tTc p.S133F NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 133 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CACCCATGAGGACTTAGGACT 0.438000 125 10 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67377050 67377050 + Missense_Mutation SNP C T T rs151144350 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:67377050C>T uc001omj.2 + 3 607 c.454C>T c.(454-456)Cgc>Tgc p.R152C NDUFV1_uc010rpv.1_Missense_Mutation_p.R51C|NDUFV1_uc001omk.4_Missense_Mutation_p.R143C|NDUFV1_uc001oml.2_Missense_Mutation_p.R145C|NDUFV1_uc009yrz.1_Missense_Mutation_p.R51C|NDUFV1_uc010rpw.1_5'Flank NM_007103 NP_009034 P49821 NDUV1_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 152 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding p.R152S(2)|p.A151T(1) breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CATGGGCGCCCGCGCTGCCTA 0.607000 151 16 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121698406 121698406 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:121698406G>A uc003idn.3 - 12 1724 c.1474C>T c.(1474-1476)Cca>Tca p.P492S PRDM5_uc003ido.3_Missense_Mutation_p.P461S|PRDM5_uc010ine.3_Missense_Mutation_p.P461S NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN Homo sapiens PR domain containing 5 (PRDM5), mRNA. 492 histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCACAATATGGACAGATTTTC 0.383000 77 5 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161128522 161128522 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:161128522C>T uc003lyu.2 + 8 1443 c.1105C>T c.(1105-1107)Cat>Tat p.H369Y GABRA6_uc003lyv.2_Missense_Mutation_p.H140Y NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 369 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.H369Y(2) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCCAAATATCATCTGAAGAA 0.378000 TCGA Ovarian(5;0.080) 79 4 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936403 38936403 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:38936403C>T uc021wvy.1 - 14 2655 c.2456G>A c.(2455-2457)aGa>aAa p.R819K SCN11A_uc010hhn.1_5'UTR NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 819 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTTTCCATTTCTTTCCTCATT 0.448000 55 7 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949935 7949935 + Missense_Mutation SNP A C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:7949935A>C uc010rbh.2 - 0 275 c.275T>G c.(274-276)aTt>aGt p.I92S NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCAAAAGAAATTGTAGTTTT 0.428000 123 15 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301039 110301040 + Missense_Mutation DNP GG AA AA TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:110301039_110301040GG>AA uc001dyr.2 - 7 840_841 c.615_616CC>TT c.(613-618)tcccca>tcTTca p.P206S EPS8L3_uc001dys.2_Missense_Mutation_p.P206S|EPS8L3_uc001dyq.2_Missense_Mutation_p.P207S|EPS8L3_uc009wfm.2_Missense_Mutation_p.P173S|EPS8L3_uc009wfn.2_Missense_Mutation_p.P181S|EPS8L3_uc009wfo.2_Missense_Mutation_p.P153S NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 206 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGGGCCTTGGGGATGGTGGGA 0.594000 158 13 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103705032 103705032 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr13:103705032G>A uc001vpy.4 - 2 1120 c.523C>T c.(523-525)Cct>Tct p.P175S NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 175 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGGAAACAGGAACAACGAGA 0.393000 56 4 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068456 189068456 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:189068456C>T uc003izm.1 + 5 1452 c.1337C>T c.(1336-1338)tCc>tTc p.S446F TRIML1_uc003izn.1_Missense_Mutation_p.S170F NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.F445I(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCTATCTTTTCCCCCTGCCTC 0.562000 95 11 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7776915 7776915 + Missense_Mutation SNP A C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:7776915A>C uc001ijs.3 + 14 1980 c.1818A>C c.(1816-1818)agA>agC p.R606S NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 606 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.R606I(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCGCCAAGAGAAGAATTACAA 0.547000 120 9 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124748122 124748122 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:124748122G>A uc011bke.2 - 1 595 c.527C>T c.(526-528)tCa>tTa p.S176L HEG1_uc003ehs.4_Missense_Mutation_p.S176L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 176 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGTTCTACTTGAAGAGCCGCT 0.502000 17 4 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116856657 116856657 + Nonsense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:116856657G>A uc004bif.3 - 8 1022 c.784C>T c.(784-786)Cag>Tag p.Q262* KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 395 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TGGTCCAGCTGGAACTGCAGG 0.602000 92 8 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179395939 179395939 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179395939G>A uc021vsy.1 - 306 97924 c.97699C>T c.(97699-97701)Cca>Tca p.P32567S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P26262S|TTN_uc021vta.1_Missense_Mutation_p.P26195S|TTN_uc021vtb.1_Missense_Mutation_p.P26070S|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33494 Ig-like 143. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGACCGTGGCTTTGTTAGA 0.473000 146 7 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057744 180057744 + Missense_Mutation SNP C T T rs138831198 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:180057744C>T uc003mlz.4 - 2 290 c.211G>A c.(211-213)Gga>Aga p.G71R FLT4_uc003mma.4_Missense_Mutation_p.G71R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.G71R|FLT4_uc011dgz.1_Missense_Mutation_p.G71R|FLT4_uc011dha.1_Missense_Mutation_p.G71R NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 71 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.G71R(3) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCCTTGTCTCCGGTGGCTGGC 0.672000 36 5 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071651 53071652 + Missense_Mutation DNP GG AA AA TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:53071651_53071652GG>AA uc003xqz.2 - 9 1768_1769 c.1612_1613CC>TT c.(1612-1614)cca>TTa p.P538L ST18_uc011ldq.1_Missense_Mutation_p.P185L|ST18_uc011ldr.1_Missense_Mutation_p.P503L|ST18_uc011lds.1_Missense_Mutation_p.P443L|ST18_uc003xra.2_Missense_Mutation_p.P538L|ST18_uc003xrb.2_Missense_Mutation_p.P538L NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 538 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAATTTCACTGGATTTGGAAAA 0.416000 62 4 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917616 97917616 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:97917616C>T uc001klp.3 + 5 2394 c.1537C>T c.(1537-1539)Cca>Tca p.P513S ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P513S|ZNF518A_uc001klr.3_Missense_Mutation_p.P513S NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGCAGCTACTCCATTTTCATG 0.348000 114 9 0 0 1 0 0 ZFP112 7771 broad.mit.edu 37 19 44891856 44891856 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:44891856C>T uc010xxa.2 - 3 615 c.572G>A c.(571-573)aGc>aAc p.S191N ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S184N NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 CCAACTGAGGCTGTCATCATG 0.453000 89 9 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899636 233899636 + Nonsense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:233899636C>T uc010zmn.2 + 1 1012 c.1012C>T c.(1012-1014)Cag>Tag p.Q338* NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 338 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CTCAGACCTCCAGAGCATGGG 0.607000 139 7 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387990 157387990 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:157387990C>T uc003wno.3 - 16 2557 c.2436G>A c.(2434-2436)agG>agA p.R812R PTPRN2_uc003wnp.3_Silent_p.R795R|PTPRN2_uc003wnq.3_Silent_p.R783R|PTPRN2_uc003wnr.3_Silent_p.R774R|PTPRN2_uc011kwa.2_Silent_p.R835R NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 812 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R812R(2)|p.P811Q(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGCGGGGTTCCTCGGGTCGT 0.532000 51 9 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15517307 15517307 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:15517307C>T uc002gor.1 - 8 1978 c.1641G>A c.(1639-1641)atG>atA p.M547I CDRT1_uc002gov.4_Missense_Mutation_p.M237I O95170 CDRT1_HUMAN Homo sapiens tripartite motif containing 16 (TRIM16), mRNA. 237 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) ACAGCCTATTCATTTCGGATA 0.488000 103 4 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622241 41622241 + Missense_Mutation SNP G A A rs115815874 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:41622241G>A uc002opu.1 + 1 204 c.148G>A c.(148-150)Gac>Aac p.D50N CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.D50N|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 50 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 TTGCTCCCAAGACATGCTGAC 0.567000 223 13 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9079293 9079293 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:9079293G>A uc009vmo.1 - 3 411 c.411C>T c.(409-411)tcC>tcT p.S137S NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 137 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCACCACTCGGGAAAAGACGA 0.587000 41 5 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152749005 152749005 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152749005G>A uc010pdv.2 + 0 158 c.158G>A c.(157-159)gGc>gAc p.G53D NM_178354 NP_848131 Q5T754 LCE1F_HUMAN Homo sapiens late cornified envelope 1F (LCE1F), mRNA. 53 keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCTGCTGTGGCTCCAGCTCT 0.677000 82 9 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848200 54848200 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:54848200G>A uc002qfj.3 - 5 1224 c.1167C>T c.(1165-1167)caC>caT p.H389H LILRA4_uc002qfi.3_Silent_p.H323H NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 389 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) AGGTCCCCGCGTGGGCTGAGG 0.627000 169 9 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361551 105361551 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:105361551G>A uc003ylx.1 + 1 820 c.771G>A c.(769-771)agG>agA p.R257R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 257 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTGATGAAAGGGAGAGACATC 0.473000 75 6 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129156903 129156903 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129156903C>T uc022cdu.1 + 4 3683 c.3639C>T c.(3637-3639)ttC>ttT p.F1213F BCORL1_uc010nrd.1_Silent_p.F1115F|BCORL1_uc004evc.2_5'Flank NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 1213 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGAGCAGTTTCCGTGACTTTA 0.478000 168 11 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64055334 64055334 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:64055334C>T uc010rni.2 + 4 751 c.723C>T c.(721-723)ttC>ttT p.F241F GPR137_uc010rnj.2_Silent_p.F183F|GPR137_uc001nze.2_Silent_p.F183F|GPR137_uc001nzf.3_Silent_p.F183F|GPR137_uc001nzh.2_Silent_p.F183F|GPR137_uc001nzi.3_Silent_p.F183F|GPR137_uc021qkt.1_Silent_p.F183F NM_001170726 NP_001164197 Q96N19 G137A_HUMAN Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA. 183 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ACTCCCTGTTCGTCATCTGCG 0.662000 56 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140755051 140755051 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140755051G>A uc003ljy.2 + 0 1401 c.1401G>A c.(1399-1401)agG>agA p.R467R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.R467R NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 469 Cadherin 5. 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) ACAACCCCAGGGGTGCCTCCA 0.557000 190 12 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57738925 57738925 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:57738925G>A uc002emi.3 + 5 926 c.837G>A c.(835-837)agG>agA p.R279R CCDC135_uc002emj.3_Silent_p.R279R|CCDC135_uc002emk.3_Silent_p.R214R NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 279 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AGCGGCTGAGGGAGGAGGAGG 0.577000 29 5 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69097377 69097377 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:69097377G>A uc011bfx.2 - 1 726 c.479C>T c.(478-480)tCa>tTa p.S160L TMF1_uc003dnn.3_Missense_Mutation_p.S160L NM_007114 NP_009045 P82094 TMF1_HUMAN Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA. 160 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGTTTCCCCTGAAACACACAA 0.413000 175 13 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53990500 53990500 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:53990500G>A uc001cvr.1 - 4 1585 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 340 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 ACGTGCTTGCGGAGGGAGCTG 0.632000 111 5 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234621888 234621888 + Nonsense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:234621888G>A uc002vuw.3 + 0 251 c.251G>A c.(250-252)tGg>tAg p.W84* UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Nonsense_Mutation_p.W84* NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 83 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCCATTTCATGGACCCAGGAC 0.448000 74 8 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634003 70634003 + Silent SNP C T T rs139974573 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:70634003C>T uc001xly.3 - 1 1891 c.1137G>A c.(1135-1137)aaG>aaA p.K379K SLC8A3_uc001xlw.3_Silent_p.K379K|SLC8A3_uc001xlx.3_Silent_p.K379K|SLC8A3_uc001xlz.3_Silent_p.K379K|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 379 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.K379K(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGCTGGAGGCCTTCTTGGCTT 0.517000 105 6 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96728497 96728497 + Splice_Site SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:96728497C>T uc001tep.2 - 2 750 c.118_splice c.e2+1 p.E40_splice CDK17_uc009ztk.3_Splice_Site_p.E40_splice|CDK17_uc010svb.2_Intron NM_002595 NP_002586 Q00537 CDK17_HUMAN Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA. 40 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AAATATTTACCATTATCCTTG 0.353000 25 3 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820550 43820551 + Missense_Mutation DNP GG AA AA TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:43820550_43820551GG>AA uc001zrt.3 + 3 7346_7347 c.6879_6880GG>AA c.(6877-6882)atggaa>atAAaa p.2293_2294ME>IK NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2293 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCCAGGAATGGAACCAGCTGC 0.614000 34 3 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39223219 39223219 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:39223219G>A uc001rls.1 - 5 453 c.369C>T c.(367-369)atC>atT p.I123I NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN Homo sapiens copine VIII (CPNE8), mRNA. 123 p.?(1) NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) GTGAACCAACGATCTCTCCCA 0.328000 172 17 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100497 168100497 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:168100497G>A uc002udx.3 + 8 2684 c.2595G>A c.(2593-2595)gaG>gaA p.E865E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E690E|XIRP2_uc010fpq.3_Silent_p.E643E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 690 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TACAACGTGAGGAGATAATAG 0.358000 96 9 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67985083 67985083 + Silent SNP G T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:67985083G>T uc010vkj.1 - 7 1303 c.1263C>A c.(1261-1263)tcC>tcA p.S421S SLC12A4_uc010ceu.2_Silent_p.S413S|SLC12A4_uc010vkh.1_Silent_p.S388S|SLC12A4_uc002euz.2_Silent_p.S419S|SLC12A4_uc010vki.1_Silent_p.S419S|SLC12A4_uc002eva.2_Silent_p.S419S|SLC12A4_uc002evb.2_Non-coding_Transcript NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 419 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCACGGTGAAGGATGTGGCGA 0.632000 110 9 4.68919e-08 4.76482e-08 1 1 0 AP4E1 23431 broad.mit.edu 37 15 51293268 51293268 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:51293268C>T uc001zyx.2 + 19 3248 c.3141C>T c.(3139-3141)tcC>tcT p.S1047S AP4E1_uc021skz.1_Silent_p.S972S|AP4E1_uc010bex.1_Non-coding_Transcript NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA. 1047 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TCTGGTTATCCTTCGCAAATG 0.318000 81 4 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624555 624555 + Missense_Mutation SNP G T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:624555G>T uc002cho.3 + 1 619 c.481G>T c.(481-483)Ggc>Tgc p.G161C PIGQ_uc010bqw.3_Missense_Mutation_p.G161C|PIGQ_uc002chm.3_Missense_Mutation_p.G161C|PIGQ_uc002chn.3_Missense_Mutation_p.G161C|PIGQ_uc010uui.2_Missense_Mutation_p.G175C NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA. 161 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CAGCACGGGGGGCCTGGCTGC 0.662000 4 5 0.014758 0.0148523 1 1 0 POM121C 100101267 broad.mit.edu 37 7 75068442 75068442 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:75068442G>A uc003udk.4 - 5 1173 c.288C>T c.(286-288)gtC>gtT p.V96V POM121C_uc010lde.1_Silent_p.V338V NM_001099415 NP_001092885 A8CG34 P121C_HUMAN Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA. 338 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 AAGAAGCGGGGACTCCACTGG 0.473000 178 28 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683143 100683143 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:100683143C>T uc003uxp.1 + 2 8499 c.8446C>T c.(8446-8448)Cct>Tct p.P2816S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2816 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTAGTATGCCTGTCAACCA 0.498000 364 60 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135445712 135445712 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135445712C>T uc004ezu.1 + 12 7645 c.7354C>T c.(7354-7356)Cct>Tct p.P2452S GPR112_uc010nsb.1_Missense_Mutation_p.P2247S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2452 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) TCAAGAACTTCCTGACAAGAT 0.348000 57 6 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52535602 52535602 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:52535602G>A uc001wzo.3 - 0 345 c.111C>T c.(109-111)ttC>ttT p.F37F NID2_uc010tqs.2_Silent_p.F37F|NID2_uc010tqt.1_Silent_p.F37F|NID2_uc001wzp.3_Silent_p.F37F NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 37 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCCCGTGTGGGAAGAGCTCGT 0.667000 52 7 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179742709 179742709 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179742709G>A uc002une.2 - 11 1999 c.1881C>T c.(1879-1881)ttC>ttT p.F627F CCDC141_uc002ung.3_Silent_p.F627F|CCDC141_uc002unf.1_Silent_p.F106F NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 52 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTAAATTAAGGAACTCAAGCC 0.368000 87 4 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71977559 71977559 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:71977559C>T uc001swl.3 + 17 1817 c.1769C>T c.(1768-1770)tCc>tTc p.S590F LGR5_uc001swm.3_Missense_Mutation_p.S566F|LGR5_uc021rar.1_Missense_Mutation_p.S518F|LGR5_uc001swn.1_Non-coding_Transcript NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 590 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTGTACATTTCCCCCATTAAA 0.502000 110 8 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098851 48098851 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:48098851C>T uc002xur.1 - 0 333 c.167G>A c.(166-168)cGg>cAg p.R56Q KCNB1_uc002xus.1_Missense_Mutation_p.R56Q NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 56 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTTGCCCAGCCGCGTGCGGGG 0.677000 12 3 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110901981 110901981 + Splice_Site SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:110901981G>A uc003hzy.4 + 15 2674 c.2222_splice c.e15-1 p.G741_splice EGF_uc011cfu.2_Splice_Site_p.G699_splice|EGF_uc011cfv.2_Splice_Site_p.G741_splice|EGF_uc010imk.3_5'UTR NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 741 EGF-like 5. DNA replication|angiogenesis|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 MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor 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) TTCTCTACTAGGAGCAGATCC 0.408000 70 7 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682439 114682439 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:114682439C>T uc021osa.1 - 1 388 c.310G>A c.(310-312)Gaa>Aaa p.E104K SYT6_uc021orz.1_Missense_Mutation_p.E19K|SYT6_uc001eev.3_Missense_Mutation_p.E19K NM_001253772 NP_001240701 Q5T7P8 SYT6_HUMAN Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA. 104 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAGGGCTTCCAAGGGGGGA 0.602000 140 10 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570448 53570448 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:53570448G>A uc003xre.4 - 14 2499 c.1941C>T c.(1939-1941)tcC>tcT p.S647S RB1CC1_uc003xrf.4_Silent_p.S647S NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. 647 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGACTGTGGGGATGTCTGAC 0.433000 39 6 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327714 67327714 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:67327714C>T uc002esu.2 - 11 2002 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K KCTD19_uc002est.2_Missense_Mutation_p.E423K|KCTD19_uc010vjj.1_Missense_Mutation_p.E394K NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 651 voltage-gated potassium channel complex voltage-gated potassium channel activity p.E651K(2) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGCTGGAATTCCCACTGTTTG 0.582000 143 9 0 0 1 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307569 146307569 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:146307569C>T uc010hvc.3 - 5 1652 c.648G>A c.(646-648)ggG>ggA p.G216G PLSCR5_uc010hvb.3_Silent_p.G204G NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA. 216 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TTGAAATCTTCCCAATTGTAA 0.333000 77 6 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771516 143771516 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:143771516C>T uc011ktx.2 + 0 204 c.204C>T c.(202-204)gtC>gtT p.V68V NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGGCGGTCGTCGACATCGCCT 0.577000 71 9 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711369 42711369 + Missense_Mutation SNP G A A rs45590635 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:42711369G>A uc021xxv.1 + 6 837 c.700G>A c.(700-702)Gaa>Aaa p.E234K GHR_uc003jmt.3_Missense_Mutation_p.E227K|GHR_uc003jmu.3_Missense_Mutation_p.E227K|GHR_uc003jmv.2_Missense_Mutation_p.E227K|GHR_uc021xxw.1_Missense_Mutation_p.E227K|GHR_uc021xxx.1_Missense_Mutation_p.E227K|GHR_uc021xxy.1_Missense_Mutation_p.E227K|GHR_uc021xxz.1_Missense_Mutation_p.E227K|GHR_uc021xya.1_Missense_Mutation_p.E227K|GHR_uc021xyb.1_Missense_Mutation_p.E227K|GHR_uc021xyc.1_Missense_Mutation_p.E227K|GHR_uc011cpq.2_Missense_Mutation_p.E40K|GHR_uc021xyd.1_Missense_Mutation_p.E205K NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 227 Fibronectin type-III. 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TAAGGAATATGAAGTGCGTGT 0.398000 120 6 0 0 1 0 0 UBE2A 7319 broad.mit.edu 37 X 118709340 118709340 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:118709340C>T uc004erl.3 + 2 304 c.128C>T c.(127-129)cCt>cTt p.P43L UBE2A_uc004erm.3_Missense_Mutation_p.P43L NM_003336 NP_861442 P49459 UBE2A_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA. 43 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 TGTTGCAGGCCTGAAGGGACC 0.537000 Rad6 pathway 108 9 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746680 95746680 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:95746680C>T uc003kls.2 - 7 1132 c.893G>A c.(892-894)gGg>gAg p.G298E PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G251E NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 298 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGACCCCTTCCCCTGTCTCCC 0.478000 90 12 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69046490 69046490 + Missense_Mutation SNP G C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:69046490G>C uc003xxv.1 + 31 3990 c.3963G>C c.(3961-3963)caG>caC p.Q1321H NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1321 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.Q1321*(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCACTTTCAGTCACTTCTGT 0.428000 57 5 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46851902 46851902 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:46851902G>A uc003oyo.3 - 4 724 c.435C>T c.(433-435)ttC>ttT p.F145F GPR116_uc003oyp.3_Silent_p.F145F|GPR116_uc003oyq.3_Silent_p.F145F|GPR116_uc003oyr.2_Silent_p.F145F NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 145 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GCCCTGGGAGGAAGACGTCAC 0.498000 114 5 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060513 56060513 + Missense_Mutation SNP T A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:56060513T>A uc002ivf.1 - 1 418 c.275A>T c.(274-276)cAc>cTc p.H92L VEZF1_uc010dcn.1_5'UTR NM_007146 NP_009077 Q14119 VEZF1_HUMAN Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA. 92 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCAGGATTCGTGGCGCCTCAG 0.502000 87 7 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285685 100285685 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:100285685G>A uc003uwg.1 - 1 1093 c.84C>T c.(82-84)tcC>tcT p.S28S NM_022574 NP_072096 O75420 PERQ1_HUMAN Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA. 28 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCATGGCAGGGGACGGGGGTG 0.632000 68 16 0 0 1 0 0 HAMP 57817 broad.mit.edu 37 19 35775748 35775748 + Nonsense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:35775748G>A uc002nyw.3 + 1 218 c.147G>A c.(145-147)tgG>tgA p.W49* NM_021175 NP_066998 P81172 HEPC_HUMAN Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA. 49 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGGCCAGCTGGATGGTGAGCG 0.617000 68 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579905 179579905 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179579905G>A uc021vsy.1 - 86 22501 c.22276C>T c.(22276-22278)Ccc>Tcc p.P7426S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4087S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8353 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAAATGGGGGAGTGCCCTGA 0.428000 164 14 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245397 46245397 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:46245397G>A uc003cph.1 - 1 479 c.408C>T c.(406-408)gtC>gtT p.V136V CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.V136V NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 136 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACACGGCGTGGACGATGGCCA 0.517000 53 4 0 0 1 0 0 FAM19A3 284467 broad.mit.edu 37 1 113266642 113266642 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:113266642C>T uc001ecu.3 + 3 410 c.341C>T c.(340-342)tCg>tTg p.S114L FAM19A3_uc001ecv.3_Silent_p.I91I|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Non-coding_Transcript NM_001004440 NP_001004440 Q7Z5A8 F19A3_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA. 0 extracellular region lung(4)|ovary(1) 5 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCCTCCATCGTCCTGCAGA 0.627000 37 6 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838545 155838546 + Missense_Mutation DNP CC TT TT rs150921882 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:155838545_155838546CC>TT uc003far.2 + 0 209_210 c.145_146CC>TT c.(145-147)ccc>TTc p.P49F KCNAB1_uc011bon.1_Missense_Mutation_p.P49F NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 49 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAGCCTTAGTCCCTCAGGGGAA 0.540000 56 4 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303676 134303676 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:134303676C>T uc004eyk.1 - 1 777 c.121G>A c.(121-123)Gga>Aga p.G41R CXorf48_uc004eyl.1_Missense_Mutation_p.G41R NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA. 41 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) GTGACAACTCCCTGCACAGTT 0.418000 35 4 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21151925 21151925 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:21151925C>T uc010vbe.2 - 4 628 c.628G>A c.(628-630)Gat>Aat p.D210N DNAH3_uc002die.2_Missense_Mutation_p.D181N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 210 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L209R(1) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AACATGACATCGAGCTGCTGT 0.483000 105 8 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20060745 20060745 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:20060745C>T uc010nfo.2 - 7 999 c.882G>A c.(880-882)gtG>gtA p.V294V MAP7D2_uc004czq.2_Silent_p.V138V|MAP7D2_uc011mji.2_Silent_p.V201V|MAP7D2_uc004czr.2_Silent_p.V253V|MAP7D2_uc011mjj.2_Silent_p.V208V NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 253 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TCACCTTCTCCACCTGTAGGG 0.483000 158 8 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204836 5204836 + RNA SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:5204836C>T uc009xhz.2 - 1 c.324G>A Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TAGAATATTTCCTCTCTCTTG 0.413000 125 8 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2413800 2413800 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:2413800G>A uc010xgx.2 + 8 1255 c.1255G>A c.(1255-1257)Ggg>Agg p.G419R TMPRSS9_uc002lvv.1_Missense_Mutation_p.G453R NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 419 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) CCGGCGTCCAGGGGTCTATGC 0.667000 61 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070090 9070090 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9070090C>T uc002mkp.3 - 2 17560 c.17356G>A c.(17356-17358)Gac>Aac p.D5786N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5788 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCCTGGTGTCCCTTAATCCA 0.473000 81 6 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323261 57323261 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:57323261C>T uc010sqw.2 - 2 781 c.637G>A c.(637-639)Gag>Aag p.E213K NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA. 213 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TCCAGGTTCTCCTTGCCGAGA 0.542000 108 9 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62393437 62393437 + Silent SNP T G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:62393437T>G uc001dab.3 + 26 3720 c.3606T>G c.(3604-3606)ccT>ccG p.P1202P INADL_uc009waf.1_Silent_p.P1202P|INADL_uc001daa.2_Silent_p.P1202P|INADL_uc001dad.3_Silent_p.P899P|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1202 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGAAACTTCCTCCTCCTTATA 0.418000 62 4 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80043929 80043929 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:80043929C>T uc004aku.3 - 4 1140 c.617G>A c.(616-618)cGa>cAa p.R206Q NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 206 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCTTTCCGATCGTTGGCCACC 0.453000 156 13 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177007 71177007 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:71177007G>A uc003tvy.3 + 10 1673 c.1673G>A c.(1672-1674)gGa>gAa p.G558E WBSCR17_uc003tvz.3_Missense_Mutation_p.G257E NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 558 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCCAGAATGGAGCCATCATG 0.577000 96 7 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786832 19786832 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:19786832G>A uc003zoa.2 - 0 186 c.33C>T c.(31-33)tcC>tcT p.S11S SLC24A2_uc003zob.2_Silent_p.S11S NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 11 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATTTCTCTAGGGAAGTGATGG 0.423000 137 11 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44954020 44954020 + Nonsense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:44954020G>A uc002ikw.1 + 3 1047 c.1010G>A c.(1009-1011)tGg>tAg p.W337* WNT9B_uc002ikx.1_Intron NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 337 Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CAGGTGCAGTGGTGCTGCTAC 0.652000 25 4 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6851090 6851090 + Missense_Mutation SNP G A A rs139451898 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:6851090G>A uc002knc.3 + 3 3656 c.445G>A c.(445-447)Gag>Aag p.E149K ARHGAP28_uc002kne.3_Missense_Mutation_p.E42K|ARHGAP28_uc010wzi.2_Silent_p.E31E|ARHGAP28_uc002knf.3_Missense_Mutation_p.E33K NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGAAGAAAGAGAGCTTCCAAG 0.448000 43 3 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003856 155003856 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:155003856C>T uc022cio.1 + 0 323 c.323C>T c.(322-324)tCa>tTa p.S108L SPRY3_uc004fnq.1_Missense_Mutation_p.S108L NM_005840 NP_005831 O43610 SPY3_HUMAN Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA. 108 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCCTCACCTTCAGGCCAATCC 0.552000 98 6 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30856031 30856031 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:30856031C>T uc003ahy.3 - 11 1269 c.1180G>A c.(1180-1182)Gat>Aat p.D394N SEC14L3_uc003ahz.3_Missense_Mutation_p.D317N|SEC14L3_uc003aia.3_Missense_Mutation_p.D335N|SEC14L3_uc003aib.3_Missense_Mutation_p.D335N NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 394 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AGCTCCTTATCATATTTCTGC 0.507000 41 4 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921606 130921606 + Missense_Mutation SNP G C C rs148090124 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:130921606G>C uc001uil.2 - 9 2052 c.1836C>G c.(1834-1836)gaC>gaG p.D612E RIMBP2_uc001uim.3_Missense_Mutation_p.D520E NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 612 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCAGGTGCTCGTCTTTGGTTT 0.667000 17 3 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38822825 38822825 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:38822825G>A uc003avs.1 - 1 1410 c.1313C>T c.(1312-1314)tCc>tTc p.S438F KCNJ4_uc003avt.1_Missense_Mutation_p.S438F|KCNJ4_uc021wpp.1_Missense_Mutation_p.S438F NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 438 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CCTGCGGTAGGAGATGTTGTC 0.672000 130 12 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576493 158576493 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:158576493G>A uc010pio.2 + 0 265 c.265G>A c.(265-267)Gac>Aac p.D89N NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGCTGGGGGGGACCAGGCTAT 0.552000 217 21 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065210 23065210 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:23065210G>A uc002wsv.3 - 0 1768 c.1620C>T c.(1618-1620)tcC>tcT p.S540S NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 540 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGACGCCTGGGGACCCACTGG 0.647000 72 7 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148769143 148769143 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:148769143G>A uc003wfh.2 - 3 858 c.721C>T c.(721-723)Cgg>Tgg p.R241W ZNF786_uc011kuk.1_Missense_Mutation_p.R204W|ZNF786_uc003wfi.2_Missense_Mutation_p.R155W NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACGCCACACCGGAAGTGCCTC 0.652000 23 3 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169566292 169566292 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:169566292C>T uc001ggi.4 - 10 1893 c.1828G>A c.(1828-1830)Ggg>Agg p.G610R SELP_uc001ggh.3_Missense_Mutation_p.G445R|SELP_uc009wvr.3_Missense_Mutation_p.G610R NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 610 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTATTGGGCCCCTCCAGCTTA 0.478000 63 9 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153272 105153272 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:105153272G>A uc004emd.3 + 12 1942 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K NRK_uc010npc.1_Missense_Mutation_p.E215K NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 547 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CCAGGTGCCTGAACAAGAGCT 0.582000 HNSCC(51;0.14) 27 3 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176738746G>A uc001gkz.3 + 15 5491 c.4327G>A c.(4327-4329)Gaa>Aaa p.E1443K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E1443K(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTCTAGAAGGAAATTCTGCT 0.453000 55 8 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24006813 24006813 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:24006813G>A uc004dba.4 - 3 1296 c.1040C>T c.(1039-1041)tCc>tTc p.S347F NM_030624 NP_085127 Q96M94 KLH15_HUMAN Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA. 347 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 GAATACTTTGGAAGAAGCATG 0.488000 132 13 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751222 162751222 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:162751222C>T uc002ubx.4 + 10 1412 c.1228C>T c.(1228-1230)Cgt>Tgt p.R410C SLC4A10_uc010fpa.1_Missense_Mutation_p.R422C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R391C|SLC4A10_uc002uby.4_Missense_Mutation_p.R380C NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 410 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.R380C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGCTAAAGATCGTAATGACTT 0.328000 44 6 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21900198 21900198 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:21900198G>A uc001bet.3 + 8 1160 c.903G>A c.(901-903)agG>agA p.R301R ALPL_uc010odo.2_Silent_p.R246R|ALPL_uc010odp.2_Silent_p.R224R|ALPL_uc010odn.2_Silent_p.R249R|ALPL_uc001beu.4_Silent_p.R301R NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 301 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGCTGAACAGGAACAACGTGA 0.597000 22 3 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857708 101857708 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:101857708C>T uc022cbb.1 + 0 639 c.639C>T c.(637-639)ccC>ccT p.P213P ARMCX5_uc004ejg.3_Silent_p.P213P|ARMCX5_uc022caw.1_Silent_p.P213P|ARMCX5_uc022cax.1_Silent_p.P213P|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Silent_p.P213P|ARMCX5_uc022cba.1_Silent_p.P213P|ARMCX5_uc004ejh.3_Silent_p.P213P NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA. 213 binding p.P213P(2)|p.K212I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 CACACAAACCCACACTTACTA 0.473000 111 12 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480359 102480359 + Missense_Mutation SNP C G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:102480359C>G uc002tbc.3 + 16 2321 c.1943C>G c.(1942-1944)tCt>tGt p.S648C MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S563C|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S543C|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 582 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGTGACCCTTCTCCCAAATTT 0.507000 308 25 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9927997 9927997 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:9927997G>A uc010uym.2 - 8 2052 c.1742C>T c.(1741-1743)cCt>cTt p.P581L GRIN2A_uc002czo.4_Missense_Mutation_p.P581L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P424L|GRIN2A_uc002czr.4_Missense_Mutation_p.P581L NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 581 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTATCCAACAGGGCTGAAGTA 0.388000 127 9 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625338 140625338 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140625338C>T uc003lje.3 + 0 192 c.192C>T c.(190-192)gcC>gcT p.A64A NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 64 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGGGGAGCCCGGGTAGTTT 0.552000 69 7 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40702789 40702789 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:40702789C>T uc001cfc.4 + 7 2446 c.2415C>T c.(2413-2415)ttC>ttT p.F805F RLF_uc001cfd.4_Silent_p.F496F NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 805 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CATGCAACTTCCTTGGCTGTA 0.353000 49 6 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891407 18891407 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:18891407C>T uc001rdy.3 + 0 363 c.205C>T c.(205-207)Cca>Tca p.P69S PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 69 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CGATGGAAATCCAGTACTCTT 0.423000 62 5 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596905 39596905 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:39596905C>T uc002hwq.1 - 0 692 c.269G>A c.(268-270)gGa>gAa p.G90E NM_006771 NP_006762 O76015 KRT38_HUMAN Homo sapiens keratin 38 (KRT38), mRNA. 90 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CCCACAGATTCCAATGTTGCC 0.607000 74 6 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256684 69256684 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:69256684G>A uc021rve.1 - 2 884 c.790C>T c.(790-792)Cgt>Tgt p.R264C ZFP36L1_uc001xki.2_Missense_Mutation_p.R195C|ZFP36L1_uc001xkh.2_Missense_Mutation_p.R195C NM_001244701 NP_001231630 Q07352 TISB_HUMAN Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA. 195 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGCGGGGACGGTCAGCGGAG 0.692000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 3 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136277544 136277544 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:136277544G>A uc004cdm.3 - 3 985 c.785C>T c.(784-786)gCc>gTc p.A262V ADAMTS13_uc004cdp.4_5'Flank|REXO4_uc011mde.2_Missense_Mutation_p.A125V|REXO4_uc011mdf.2_Missense_Mutation_p.A125V|REXO4_uc004cdn.3_Missense_Mutation_p.A13V NM_020385 NP_065118 Q9GZR2 REXO4_HUMAN Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA. 262 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CACACGGGCGGCCATGCTCTC 0.547000 161 11 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537752 55537752 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:55537752G>A uc003xsd.1 + 3 1458 c.1310G>A c.(1309-1311)gGa>gAa p.G437E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 437 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATCATCCAGGGAACTCAAGAC 0.438000 83 4 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155212168 155212168 + Missense_Mutation SNP T C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:155212168T>C uc021xge.1 - 14 2274 c.1997A>G c.(1996-1998)aAc>aGc p.N666S PLCH1_uc021xgd.1_Missense_Mutation_p.N666S|PLCH1_uc021xgf.1_Missense_Mutation_p.N648S NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 666 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGGGTTGAAGTTACTGGAATC 0.468000 35 4 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52661488 52661488 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr13:52661488C>T uc001vge.3 - 14 1518 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 460 ATP binding|metal ion binding|protein serine/threonine kinase activity p.E517K(2)|p.E460K(2)|p.W460*(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TCCTTCATTTCGTTTTTCCTA 0.393000 80 7 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962938 2962938 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:2962938C>T uc003smv.3 - 15 2304 c.1970G>A c.(1969-1971)gGg>gAg p.G657E NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 657 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.P657L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCGCACGTGCCCCACAGAGGT 0.652000 Mis DLBCL 62 4 0 0 1 0 0 SLC50A1 55974 broad.mit.edu 37 1 155110691 155110692 + Missense_Mutation DNP CC TT TT TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:155110691_155110692CC>TT uc001fhj.4 + 5 700_701 c.600_601CC>TT c.(598-603)atccgc>atTTgc p.R201C SLC50A1_uc001fhk.4_Missense_Mutation_p.R146C|SLC50A1_uc001fhl.4_Missense_Mutation_p.R147C NM_018845 NP_061333 Q9BRV3 SWET1_HUMAN Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA. 201 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 CCAGCTTTATCCGCTTCTGGCT 0.530000 48 6 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44413473 44413473 + Nonsense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:44413473C>T uc003oxl.3 + 14 2483 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* NM_001253 NP_001244 Q99459 CDC5L_HUMAN Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA. 725 Interaction with PLRG1. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGGGGTTACCAGTCTCGTGC 0.453000 57 7 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128627979 128627979 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:128627979C>T uc003ifk.2 + 11 2229 c.2126C>T c.(2125-2127)cCt>cTt p.P709L INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 709 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AAGCCTAGTCCTTCCTGTAGT 0.458000 149 14 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230695492 230695492 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:230695492G>A uc002vpx.1 - 6 1443 c.1334C>T c.(1333-1335)tCc>tTc p.S445F TRIP12_uc021vxw.1_Missense_Mutation_p.S403F|TRIP12_uc002vpy.1_Missense_Mutation_p.S100F|TRIP12_uc002vpw.1_Missense_Mutation_p.S397F|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S403F NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 397 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCCCATCTCGGAATCATCTGA 0.448000 52 5 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99663266 99663266 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:99663266C>T uc010nmz.3 - 0 2006 c.330G>A c.(328-330)atG>atA p.M110I PCDH19_uc004efw.4_Missense_Mutation_p.M110I|PCDH19_uc004efx.4_Missense_Mutation_p.M110I NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 110 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGCAGATTTCCATTGAGCTGG 0.577000 87 4 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921515 12921515 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:12921515G>A uc001aum.1 + 3 1393 c.1306G>A c.(1306-1308)Gag>Aag p.E436K NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 436 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTTCGGGCTGAGCTGATGTG 0.552000 88 10 0 0 1 0 0 RPL13A 23521 broad.mit.edu 37 19 49993748 49993748 + Silent SNP C T T rs45550435 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:49993748C>T uc002pny.3 + 3 193 c.171C>T c.(169-171)ttC>ttT p.F57F RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank NM_012423 NP_036555 P40429 RL13A_HUMAN Homo sapiens ribosomal protein L13a (RPL13A), mRNA. 57 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) ACCTGGCTTTCCTCCGCAAGC 0.632000 49 4 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433930 69433930 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:69433930C>T uc021xov.1 - 0 316 c.273G>A c.(271-273)atG>atA p.M91I NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 91 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CGAACATTTTCATAAAAAAAT 0.274000 31 6 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076273 135076273 + Missense_Mutation SNP A T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:135076273A>T uc002ttw.4 + 3 681 c.536A>T c.(535-537)gAt>gTt p.D179V NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 179 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TATGGAGTGGATGGATCCACC 0.498000 169 9 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510853 5510853 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:5510853G>A uc010qzg.2 + 0 939 c.917G>A c.(916-918)cGa>cAa p.R306Q HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R306*(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCGGAGTCGACTTCTAAAA 0.428000 59 4 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081289 194081289 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:194081289C>T uc003ftt.3 - 2 627 c.502G>A c.(502-504)Gaa>Aaa p.E168K LRRC15_uc003ftu.3_Missense_Mutation_p.E162K|LRRC15_uc021xiy.1_Missense_Mutation_p.E162K NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 162 integral to membrane p.G167*(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GGGATGTATTCCAGGTGGTTG 0.572000 149 15 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40773126 40773126 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:40773126C>T uc001cfh.1 - 18 1112 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S COL9A2_uc001cfi.1_Missense_Mutation_p.G153S NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 334 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) ACCGCTAGGCCCTGGTGGCCT 0.592000 16 3 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38639364 38639364 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:38639364G>A uc021wvo.1 - 12 2170 c.2118C>T c.(2116-2118)atC>atT p.I706I SCN5A_uc021wvk.1_Silent_p.I706I|SCN5A_uc021wvl.1_Silent_p.I706I|SCN5A_uc021wvm.1_Silent_p.I706I|SCN5A_uc021wvn.1_Silent_p.I706I|SCN5A_uc021wvp.1_Silent_p.I706I|SCN5A_uc021wvq.1_Silent_p.I706I|SCN5A_uc021wvr.1_Silent_p.I706I|SCN5A_uc021wvs.1_Silent_p.I706I|SCN5A_uc021wvt.1_Silent_p.I706I|SCN5A_uc021wvu.1_Silent_p.I706I|SCN5A_uc021wvv.1_Silent_p.I706I|SCN5A_uc021wvj.1_Silent_p.I572I|SCN5A_uc021wvi.1_Silent_p.I572I|SCN5A_uc021wvw.1_Silent_p.I317I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 706 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTCCCTGCTTGATGGACATCC 0.557000 80 7 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129281738 129281738 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129281738G>A uc004evg.3 - 3 694 c.463C>T c.(463-465)Cct>Tct p.P155S AIFM1_uc011mus.2_Missense_Mutation_p.P155S|AIFM1_uc004evh.3_Missense_Mutation_p.P151S|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR NM_004208 NP_004199 O95831 AIFM1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 155 FAD-dependent oxidoreductase (By similarity). DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CTGGCCCCAGGATCCCGAGCC 0.507000 126 8 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853291 40853291 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:40853291G>A uc003jmg.3 + 2 1932 c.1857G>A c.(1855-1857)agG>agA p.R619R NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 619 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GGGATAGAAGGAAGAACATGG 0.532000 126 11 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56464962 56464962 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:56464962G>A uc003pcy.4 - 25 3838 c.3730C>T c.(3730-3732)Ctt>Ttt p.L1244F DST_uc010kaa.1_5'Flank NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 3656 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTTGGGTAAGAAGATCACAT 0.408000 94 7 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568020 223568021 + Missense_Mutation DNP GG AA AA TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:223568020_223568021GG>AA uc001hoa.2 + 0 1306_1307 c.1203_1204GG>AA c.(1201-1206)ctggtg>ctAAtg p.V402M NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 402 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGAGGAGGCTGGTGGAAGCCTG 0.624000 26 3 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409843 121409843 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:121409843G>A uc010hrc.3 - 13 8494 c.8368C>T c.(8368-8370)Ctt>Ttt p.L2790F GOLGB1_uc003eei.4_Missense_Mutation_p.L2785F|GOLGB1_uc003eej.4_Missense_Mutation_p.L2751F|GOLGB1_uc021xcy.1_Missense_Mutation_p.L2710F NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2785 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.A2789T(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTTCAGAAAGAAGAGCATCT 0.418000 65 5 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612140 16612140 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:16612140G>A uc002gqk.1 + 4 845 c.769G>A c.(769-771)Gat>Aat p.D257N CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 257 AATGGCTAAGGATTGCGATAG 0.383000 59 5 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45798933 45798933 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr21:45798933G>A uc010gpt.1 + 7 1168 c.1068G>A c.(1066-1068)tcG>tcA p.S356S TRPM2_uc002zet.1_Silent_p.S356S|TRPM2_uc002zeu.1_Silent_p.S356S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S356S|TRPM2_uc002zex.1_Silent_p.S142S NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 356 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGGAGGGCTCGGGCCGCGTGG 0.637000 66 4 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34646038 34646038 + Missense_Mutation SNP T C C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:34646038T>C uc010ucc.2 + 4 1422 c.1040T>C c.(1039-1041)cTa>cCa p.L347P C15orf55_uc010ucd.2_Missense_Mutation_p.L337P|C15orf55_uc001zif.3_Missense_Mutation_p.L319P NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 319 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CTTGATCCTCTAGGGCCCCTG 0.542000 T """BRD3, BRD4""" lethal midline carcinoma 75 4 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56078502 56078502 + Silent SNP C T T rs139664564 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:56078502C>T uc010giw.1 - 9 1941 c.1830G>A c.(1828-1830)gcG>gcA p.A610A CTCFL_uc010gix.1_Silent_p.A610A|CTCFL_uc002xym.2_Silent_p.A610A|CTCFL_uc010gjb.1_Silent_p.A610A|CTCFL_uc010gja.1_Silent_p.A560A|CTCFL_uc010gjc.1_Silent_p.A610A|CTCFL_uc010gjd.1_Silent_p.A610A|CTCFL_uc010gje.3_Silent_p.A610A|CTCFL_uc010gjg.3_Silent_p.A342A|CTCFL_uc010gjf.3_Silent_p.A405A|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 610 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CGTCTCCGTTCGCGGCTTCCT 0.502000 120 12 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10388874 10388874 + Silent SNP C T T rs144205813 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:10388874C>T uc003wta.3 + 2 457 c.417C>T c.(415-417)gtC>gtT p.V139V AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.V139V|PRSS55_uc003wtb.3_Non-coding_Transcript NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 139 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TAAAGGAGGTCGCCAGCATCA 0.517000 184 11 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452942 48452942 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:48452942C>T uc002iqs.2 + 1 455 c.373C>T c.(373-375)Cat>Tat p.H125Y MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.H125Y NM_152463 NP_689676 Q96AY2 EME1_HUMAN Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA. 125 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TGTTTTGGATCATCAAAATAA 0.448000 Direct reversal of damage;Homologous recombination 85 5 0 0 1 0 0 FHL1 2273 broad.mit.edu 37 X 135290682 135290682 + Silent SNP C A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135290682C>A uc004ezo.3 + 5 899 c.570C>A c.(568-570)acC>acA p.T190T FHL1_uc010nrz.2_Silent_p.T190T|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Silent_p.T190T|FHL1_uc011mvy.1_Silent_p.T190T|FHL1_uc004ezn.2_Silent_p.T190T|FHL1_uc022ceu.1_Silent_p.T190T|FHL1_uc011mwa.1_Silent_p.T219T|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Silent_p.T206T|FHL1_uc004ezr.2_Missense_Mutation_p.P9H NM_001159702 NP_001153174 Q13642 FHL1_HUMAN Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA. 190 LIM zinc-binding 3. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) TGTGTGTTACCTGCTCTAAGA 0.522000 249 15 4.14922e-12 4.22978e-12 1 1 0 STXBP4 252983 broad.mit.edu 37 17 53084915 53084915 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:53084915C>T uc002iuf.1 + 7 830 c.623C>T c.(622-624)tCc>tTc p.S208F STXBP4_uc010dcc.1_Missense_Mutation_p.S133F|STXBP4_uc010dcd.1_Missense_Mutation_p.S208F NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 208 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GAAAAGATCTCCCTAAATCCC 0.358000 441 27 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911105 12911105 + Missense_Mutation SNP G A A rs140568238 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:12911105G>A uc002mvd.3 - 3 416 c.266C>T c.(265-267)aCc>aTc p.T89I PRDX2_uc002mve.1_3'UTR NM_005809 NP_005800 P32119 PRDX2_HUMAN Homo sapiens peroxiredoxin 2 (PRDX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 89 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TTTCCGGGGGGTGTTGATCCT 0.607000 82 4 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853227 35853227 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:35853227C>T uc003zyo.3 + 11 2344 c.1056C>T c.(1054-1056)ttC>ttT p.F352F TMEM8B_uc003zym.3_Silent_p.F352F NM_001042590 NP_001036055 A6NDV4 TMM8B_HUMAN Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA. 352 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CCAGTCTCTTCGCCCTGGGGA 0.612000 131 12 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649919 232649919 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:232649919G>A uc001hvg.3 - 0 1325 c.1167C>T c.(1165-1167)tcC>tcT p.S389S NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 389 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGTTCTCTTTGGAGTTGAGGT 0.537000 174 17 0 0 1 0 0 EAPP 55837 broad.mit.edu 37 14 34993985 34993985 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:34993985G>A uc001wsd.1 - 4 608 c.499C>T c.(499-501)Cgt>Tgt p.R167C NM_018453 NP_060923 Q56P03 EAPP_HUMAN Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA. 167 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TGTTGTTGACGTGATCTCTGT 0.423000 47 6 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71684502 71684502 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:71684502G>A uc004eau.3 - 7 1159 c.817C>T c.(817-819)Ccc>Tcc p.P273S HDAC8_uc011mqe.2_Missense_Mutation_p.P130S|HDAC8_uc011mqg.2_Missense_Mutation_p.P182S|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Missense_Mutation_p.P220S|HDAC8_uc010nlk.2_Missense_Mutation_p.P144S NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA. 273 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding p.P273T(2) breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) GAGCACATGGGATCCCCAGCT 0.433000 104 10 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807299 143807299 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:143807299G>A uc011ktz.2 + 0 624 c.624G>A c.(622-624)ggG>ggA p.G208G NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCTTAGTCGGGCCTCTTTCCT 0.517000 118 12 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161023168 161023168 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:161023168C>T uc001fxl.3 - 5 890 c.544G>A c.(544-546)Gac>Aac p.D182N ARHGAP30_uc001fxk.3_Missense_Mutation_p.D182N|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D28N|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.D28N NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 182 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCCTCTATGTCCTTAGACCTG 0.517000 49 8 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11539978 11539978 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:11539978G>A uc002gne.3 + 8 1731 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 555 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACCTCCTTGAAAGACCGCT 0.433000 61 4 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169814479 169814479 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:169814479G>A uc002ueo.1 - 18 2464 c.2338C>T c.(2338-2340)Ctt>Ttt p.L780F ABCB11_uc010zda.1_Missense_Mutation_p.L222F|ABCB11_uc010zdb.1_Missense_Mutation_p.L256F NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 780 ABC transmembrane type-1 2. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTACCCCAAGAATCTGGCTG 0.423000 29 3 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677815 25677815 + Missense_Mutation SNP C G G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:25677815C>G uc003grr.3 + 12 1598 c.1517C>G c.(1516-1518)cCg>cGg p.P506R SLC34A2_uc003grs.3_Missense_Mutation_p.P505R|SLC34A2_uc010iev.3_Missense_Mutation_p.P505R NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 506 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TACCCGATCCCGTTCACTCGC 0.567000 T ROS1 NSCLC 60 4 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986679 44986679 + Missense_Mutation SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:44986679C>T uc003cod.3 - 2 686 c.412G>A c.(412-414)Gac>Aac p.D138N ZDHHC3_uc003cog.3_Missense_Mutation_p.D138N|ZDHHC3_uc021wws.1_5'UTR NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA. 138 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TGGGCTCGGTCGGGCTTGATG 0.577000 99 8 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603426 111603426 + Missense_Mutation SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:111603426G>A uc010hqa.3 + 1 913 c.502G>A c.(502-504)Gaa>Aaa p.E168K PHLDB2_uc003dyc.3_Missense_Mutation_p.E195K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E168K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E168K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E168K|PHLDB2_uc003dye.4_Missense_Mutation_p.E168K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E168K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 168 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGGAGGGCTGGAAGGTCGGAA 0.547000 62 5 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457483 124457483 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:124457483G>A uc001lgn.3 - 2 806 c.774C>T c.(772-774)taC>taT p.Y258Y NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 258 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CATTTCCATGGTATGTTAAAC 0.383000 75 5 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5248279 5248279 + Silent SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:5248279C>T uc001ihw.2 + 4 522 c.489C>T c.(487-489)atC>atT p.I163I NM_001818 NP_001809 P17516 AK1C4_HUMAN Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA. 163 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity p.I163F(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CCAAGTCCATCGGGGTGTCAA 0.507000 73 7 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012134 29012134 + Silent SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:29012134G>A uc003nlw.2 - 0 819 c.819C>T c.(817-819)ttC>ttT p.F273F LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AGAGGGTGAGGAACTTGCCCT 0.443000 49 5 0 0 1 0 0 LOC283788 283788 broad.mit.edu 37 GL000219.1 83212 83212 + Splice_Site SNP C T T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrGL000219.1:83212C>T uc022brb.1 - 4 454 c.141_splice c.e4+1 p.K47_splice LOC283788_uc011mfq.2_Splice_Site Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA. GTCATCGTTACCTTGATCATT 0.348000 28 7 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677844 3677844 + Splice_Site SNP G A A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:3677844G>A uc001akv.2 + 5 793 c.712_splice c.e5-1 p.D238_splice NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 238 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTTCTGCCCAGGATCACTGCC 0.597000 39 6 0 0 1 0 0 ACOT9 23597 broad.mit.edu 37 X 23761252 23761252 + Frame_Shift_Del DEL C - - TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:23761252delC uc004dao.3 - 0 156 c.10delG c.(10-12)gcafs p.A4fs ACOT9_uc004dap.3_Frame_Shift_Del_p.A4fs|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_5'UTR|ACOT9_uc004dat.1_Frame_Shift_Del_p.A4fs NM_001037171 NP_001032248 Q9Y305 ACOT9_HUMAN Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 4 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 CGCAGTGCTGCCCGCCTCATT 0.697 --- 4 --- --- 2 ---