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 TNFRSF4 7293 broad.mit.edu 37 1 1149465 1149465 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:1149465C>T uc001ade.2 - 1 48 c.43G>A c.(43-45)GCT>ACT p.A15T TNFRSF4_uc001adf.2_5'UTR NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 15 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGAGCAGAGCCGCACACGGC 0.692 TAS1R1 80835 broad.mit.edu 37 1 6638981 6638982 + Frame_Shift_Ins INS - T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:6638981_6638982insT uc001ant.2 + 6 1863_1864 c.1863_1864insT c.(1861-1866)GGCTTCfs p.G621fs TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 621_622 Helical; Name=2; (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GCCTCTATGGCTTCTTTGGGGA 0.599 SLC25A34 284723 broad.mit.edu 37 1 16065774 16065775 + Frame_Shift_Ins INS - C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:16065774_16065775insC uc001axb.1 + 5 960_961 c.788_789insC c.(787-789)GGCfs p.G263fs SLC25A34_uc009vok.1_RNA NM_207348 NP_997231 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 263 Solcar 3. transport integral to membrane|mitochondrial inner membrane 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CGGCAGGAGGGCCCCCTGGCAC 0.649 C1orf201 90529 broad.mit.edu 37 1 24710467 24710467 + Nonsense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:24710467G>T uc001bjc.2 - 4 351 c.216C>A c.(214-216)TAC>TAA p.Y72* C1orf201_uc001bja.2_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjb.2_5'UTR|C1orf201_uc001bjd.2_Nonsense_Mutation_p.Y72*|C1orf201_uc001bje.1_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjf.2_5'UTR Q5TH74 CA201_HUMAN RecName: Full=UPF0490 protein C1orf201; 72 ovary(1)|breast(1) 2 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) GAATAACATTGTAGAACCCAG 0.413 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:39799059_39799060insG uc010oiu.1 + 1 2250_2251 c.2119_2120insG c.(2119-2121)AGGfs p.R707fs MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 LEPRE1 64175 broad.mit.edu 37 1 43213879 43213879 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:43213879G>A uc001chv.2 - 12 1943 c.1830C>T c.(1828-1830)CGC>CGT p.R610R LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chx.3_Silent_p.R610R NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 610 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACCTGTAGTCGCGGAAGGTGT 0.602 TOE1 114034 broad.mit.edu 37 1 45808763 45808764 + Frame_Shift_Ins INS - G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:45808763_45808764insG uc009vxq.2 + 8 1505_1506 c.922_923insG c.(922-924)TGGfs p.W308fs MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 308 C3H1-type. nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) GGCTTATGGCTGGTGCCCCCTG 0.569 GIPC2 54810 broad.mit.edu 37 1 78560730 78560730 + Missense_Mutation SNP G A A rs143579527 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:78560730G>A uc001dik.2 + 3 711 c.521G>A c.(520-522)CGT>CAT p.R174H NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN PDZ domain protein GIPC2 174 PDZ. cytoplasm ovary(1) 1 GTTGGGTGGCGTCACTATGAT 0.348 SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:115537600_115537601insA uc001efr.2 + 32 3100_3101 c.2891_2892insA c.(2890-2892)AGAfs p.R964fs SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.2_Frame_Shift_Ins_p.R939fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 POLR3C 10623 broad.mit.edu 37 1 145594170 145594170 + Silent SNP A T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:145594170A>T uc001eoh.2 - 14 1553 c.1392T>A c.(1390-1392)TCT>TCA p.S464S NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S477S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 464 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CTACCCTCTGAGATTTTTCTA 0.478 VPS72 6944 broad.mit.edu 37 1 151162515 151162515 + Missense_Mutation SNP T C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:151162515T>C uc001exe.1 - 1 126 c.83A>G c.(82-84)GAG>GGG p.E28G VPS72_uc001exf.1_Missense_Mutation_p.E28G NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 28 Asp/Glu-rich (acidic). chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGGTAGAACTCATCTTCCTC 0.612 LRRC52 440699 broad.mit.edu 37 1 165532851 165532851 + Missense_Mutation SNP C A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:165532851C>A uc001gde.2 + 2 788 c.732C>A c.(730-732)GAC>GAA p.D244E LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 244 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ACCACAAAGACTACATCTTCC 0.602 SELE 6401 broad.mit.edu 37 1 169698757 169698757 + Missense_Mutation SNP T C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:169698757T>C uc001ggm.3 - 6 930 c.773A>G c.(772-774)AAC>AGC p.N258S C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 258 Sushi 2.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GCTTCCAGGGTTTTGGAAACA 0.438 KIAA1217 56243 broad.mit.edu 37 10 24790356 24790356 + Missense_Mutation SNP C T T rs141937477 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:24790356C>T uc001iru.3 + 9 2286 c.1883C>T c.(1882-1884)ACG>ATG p.T628M KIAA1217_uc001irs.2_Missense_Mutation_p.T548M|KIAA1217_uc001irt.3_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.1_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.1_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.T311M|KIAA1217_uc001irz.2_Missense_Mutation_p.T311M|KIAA1217_uc001irx.2_Missense_Mutation_p.T311M|KIAA1217_uc001iry.2_Missense_Mutation_p.T311M NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 628 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CTGGAGTCCACGGTGCCTCCC 0.582 ARMC4 55130 broad.mit.edu 37 10 28229528 28229528 + Missense_Mutation SNP A C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:28229528A>C uc009xky.2 - 13 2048 c.1950T>G c.(1948-1950)ATT>ATG p.I650M ARMC4_uc010qds.1_Missense_Mutation_p.I175M|ARMC4_uc010qdt.1_Missense_Mutation_p.I342M|ARMC4_uc001itz.2_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 650 ARM 3. binding ovary(4)|skin(2) 6 CCACCACTGGAATTAGCATGT 0.473 OR13A1 79290 broad.mit.edu 37 10 45799324 45799324 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:45799324G>A uc001jcc.1 - 4 856 c.547C>T c.(547-549)CGC>TGC p.R183C OR13A1_uc001jcd.1_Missense_Mutation_p.R179C NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAATCCAAGCGCAGCATCAGC 0.587 DNTT 1791 broad.mit.edu 37 10 98079146 98079146 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:98079146C>T uc001kmf.2 + 3 676 c.506C>T c.(505-507)ACG>ATG p.T169M DNTT_uc001kmg.2_Missense_Mutation_p.T169M NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 169 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CAGATATTCACGGTAACGGGA 0.448 PAX2 5076 broad.mit.edu 37 10 102510548 102510548 + Nonsense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:102510548C>T uc001krk.3 + 3 860 c.310C>T c.(310-312)CGA>TGA p.R104* PAX2_uc001krl.3_Nonsense_Mutation_p.R104*|PAX2_uc001krm.3_Nonsense_Mutation_p.R104*|PAX2_uc001kro.3_Nonsense_Mutation_p.R104*|PAX2_uc001krn.3_Nonsense_Mutation_p.R104*|PAX2_uc010qps.1_Nonsense_Mutation_p.R103*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108* NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 104 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TGAATACAAACGACAGAACCC 0.572 OR4C6 219432 broad.mit.edu 37 11 55433358 55433358 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:55433358G>T uc001nht.3 + 3 981 c.716G>T c.(715-717)AGC>ATC p.S239I OR4C6_uc010rik.1_Missense_Mutation_p.S239I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCTACCTGCAGCTCCCACCTC 0.502 Unknown 0 broad.mit.edu 37 11 63997583 63997583 + Missense_Mutation SNP A C C rs11364788 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:63997583A>C uc001nyr.1 - 1 1178 c.746T>G c.(745-747)GTT>GGT p.V249G DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833. AAAAAAAAAAACCCGCCCAGC 0.532 CD248 57124 broad.mit.edu 37 11 66084227 66084228 + Frame_Shift_Ins INS - C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:66084227_66084228insC uc001ohm.1 - 1 288_289 c.271_272insG c.(271-273)GCCfs p.A91fs NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 91 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GCATTGCCGGGCCTGCCGCTGC 0.723 ASAM 79827 broad.mit.edu 37 11 122944226 122944226 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:122944226G>T uc001pyt.2 - 7 1437 c.1078C>A c.(1078-1080)CCC>ACC p.P360T NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 360 Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) ATCATGCTGGGTGTGGTTTCT 0.537 CD4 920 broad.mit.edu 37 12 6923329 6923329 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:6923329G>A uc001qqv.1 + 4 481 c.236G>A c.(235-237)CGC>CAC p.R79H CD4_uc009zez.1_Missense_Mutation_p.R24H|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 79 Extracellular (Potential).|Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) CTGAATGATCGCGCTGACTCA 0.522 PHC1 1911 broad.mit.edu 37 12 9087006 9087006 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:9087006G>A uc001qvd.2 + 10 2341 c.2185G>A c.(2185-2187)GTG>ATG p.V729M PHC1_uc001qve.2_Missense_Mutation_p.V729M NM_004426 NP_004417 P78364 PHC1_HUMAN polyhomeotic 1-like 729 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|breast(1) 2 ACAGGCCATCGTGAAGCCCCA 0.542 BICD1 636 broad.mit.edu 37 12 32491868 32491868 + Missense_Mutation SNP G C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:32491868G>C uc001rku.2 + 8 2800 c.2719G>C c.(2719-2721)GGG>CGG p.G907R BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 907 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ATTCATCCAAGGGCACCGGCT 0.463 BCDIN3D 144233 broad.mit.edu 37 12 50232500 50232500 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:50232500C>T uc001rvh.2 - 2 575 c.533G>A c.(532-534)GGC>GAC p.G178D LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 178 Bin3-type SAM. methyltransferase activity ovary(1) 1 CTCCCATAGGCCATGGTCTCC 0.512 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ATF7 11016 broad.mit.edu 37 12 53928392 53928392 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:53928392G>A uc001sdy.2 - 5 508 c.487C>T c.(487-489)CGT>TGT p.R163C ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R152C|ATF7_uc010sol.1_Missense_Mutation_p.R131C NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 163 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GAGCCAGGACGTACAATGGTG 0.512 SDR9C7 121214 broad.mit.edu 37 12 57328041 57328041 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:57328041G>A uc010sqw.1 - 1 5 c.5C>T c.(4-6)GCG>GTG p.A2V NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 2 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 TGTGAGGGCCGCCATAGGGCA 0.542 AVIL 10677 broad.mit.edu 37 12 58207190 58207190 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:58207190C>T uc001sqj.1 - 3 187 c.158G>A c.(157-159)AGT>AAT p.S53N AVIL_uc009zqe.1_Missense_Mutation_p.S46N|AVIL_uc001sql.3_Missense_Mutation_p.S30N NM_006576 NP_006567 O75366 AVIL_HUMAN advillin 53 Gelsolin-like 1.|Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GGATAGGAGACTGGCCACTCT 0.582 CPSF6 11052 broad.mit.edu 37 12 69653833 69653833 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:69653833G>T uc001sut.3 + 8 1435 c.1325G>T c.(1324-1326)GGG>GTG p.G442V CPSF6_uc001suu.3_Missense_Mutation_p.G479V|CPSF6_uc010stk.1_Missense_Mutation_p.G73V NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 442 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) GGTGATTATGGGAGTGCTATT 0.328 NOS1 4842 broad.mit.edu 37 12 117718572 117718572 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:117718572G>A uc001twm.1 - 8 2168 c.1482C>T c.(1480-1482)GAC>GAT p.D494D NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 494 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGGTGGAGCCGTCAGGCTGCT 0.617 TMEM132B 114795 broad.mit.edu 37 12 126004117 126004117 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:126004117C>T uc001uhe.1 + 4 1232 c.1224C>T c.(1222-1224)GTC>GTT p.V408V NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 408 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCTGGTCGTCTCCGAGATCT 0.532 GLT1D1 144423 broad.mit.edu 37 12 129360558 129360558 + Silent SNP C T T rs144231014 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:129360558C>T uc010tbh.1 + 2 144 c.135C>T c.(133-135)TGC>TGT p.C45C GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 56 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTGAGAACTGCGAGGCTGCCC 0.483 ZMYM5 9205 broad.mit.edu 37 13 20409775 20409775 + Missense_Mutation SNP A G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:20409775A>G uc010tcn.1 - 7 1358 c.1093T>C c.(1093-1095)TGC>CGC p.C365R ZMYM5_uc001umm.1_Missense_Mutation_p.C189R NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 365 MYM-type 3. nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTATTAAAGCAATGGTTACTG 0.363 NBEA 26960 broad.mit.edu 37 13 35730325 35730325 + Missense_Mutation SNP A C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:35730325A>C uc001uvb.2 + 21 2839 c.2633A>C c.(2632-2634)AAC>ACC p.N878T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 878 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTTCAGTAACAGCCGTGAA 0.313 SCEL 8796 broad.mit.edu 37 13 78176839 78176839 + Missense_Mutation SNP C T T rs144213801 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:78176839C>T uc001vki.2 + 17 1198 c.1028C>T c.(1027-1029)ACG>ATG p.T343M SCEL_uc001vkj.2_Missense_Mutation_p.T323M|SCEL_uc010thx.1_Missense_Mutation_p.T321M NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 343 16 X approximate tandem repeats.|5. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ATGAATAAAACGAGCAGAAGG 0.348 HECTD1 25831 broad.mit.edu 37 14 31582555 31582555 + Frame_Shift_Del DEL C - - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:31582555delC uc001wrc.1 - 33 6481 c.5992delG c.(5992-5994)GAAfs p.E1998fs HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1998 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGGACATCTTCTACTCCACAA 0.403 RPL10L 140801 broad.mit.edu 37 14 47120929 47120929 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:47120929C>T uc001wwg.2 - 1 100 c.11G>A c.(10-12)CGT>CAT p.R4H NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 4 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 GCGAGCTGGACGGCGCCCCAT 0.557 ACYP1 97 broad.mit.edu 37 14 75520272 75520272 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:75520272C>T uc001xrg.2 - 3 263 c.175G>A c.(175-177)GTG>ATG p.V59M MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR NM_001107 NP_001098 P07311 ACYP1_HUMAN acylphosphatase 1 isoform a 59 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00646) ATATGACGCACCTTGGAGATG 0.478 AHNAK2 113146 broad.mit.edu 37 14 105412495 105412495 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:105412495G>A uc010axc.1 - 7 9413 c.9293C>T c.(9292-9294)ACG>ATG p.T3098M AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3098 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCGGGGGCCGTCACGTCCGT 0.627 MAPKBP1 23005 broad.mit.edu 37 15 42111153 42111153 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:42111153C>T uc001zok.3 + 21 2593 c.2307C>T c.(2305-2307)AAC>AAT p.N769N MAPKBP1_uc001zoj.3_Silent_p.N763N|MAPKBP1_uc010bcj.2_Silent_p.N270N|MAPKBP1_uc010bci.2_Silent_p.N763N|MAPKBP1_uc010udb.1_Silent_p.N602N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.N270N NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 769 p.N763N(1) central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CTGGACCCAACCGGTGAGAAC 0.607 ZSCAN29 146050 broad.mit.edu 37 15 43653907 43653907 + Missense_Mutation SNP T G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:43653907T>G uc001zrk.1 - 5 2070 c.1923A>C c.(1921-1923)CAA>CAC p.Q641H ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 641 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) AAGGTCTCTGTTGACTTAGGA 0.473 ADPGK 83440 broad.mit.edu 37 15 73044826 73044827 + Frame_Shift_Ins INS - T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:73044826_73044827insT uc002avg.3 - 7 1443_1444 c.1349_1350insA c.(1348-1350)AAGfs p.K450fs ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 CTACTACTGGCTTGTTTGGGTT 0.490 SSTR5 6755 broad.mit.edu 37 16 1129417 1129417 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:1129417C>T uc002ckq.2 + 1 637 c.549C>T c.(547-549)GGC>GGT p.G183G LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 183 Extracellular (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) TGCAGGAGGGCGGTACCTGCA 0.716 TMC5 79838 broad.mit.edu 37 16 19451842 19451842 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:19451842C>T uc002dgc.3 + 3 1231 c.482C>T c.(481-483)CCG>CTG p.P161L TMC5_uc010vaq.1_Missense_Mutation_p.P161L|TMC5_uc002dgb.3_Missense_Mutation_p.P161L|TMC5_uc010var.1_Missense_Mutation_p.P161L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 161 Extracellular (Potential). integral to membrane skin(1) 1 TCCTTAGAACCGGACTACCCT 0.478 OTOA 146183 broad.mit.edu 37 16 21689852 21689852 + Missense_Mutation SNP C T T rs144912852 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:21689852C>T uc002djh.2 + 1 18 c.17C>T c.(16-18)ACG>ATG p.T6M uc002diq.3_Intron NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 6 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CAGGAACCTACGACATACTCC 0.333 GTF3C1 2975 broad.mit.edu 37 16 27518426 27518426 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:27518426C>T uc002dov.1 - 9 1334 c.1294G>A c.(1294-1296)GTG>ATG p.V432M GTF3C1_uc002dou.2_Missense_Mutation_p.V432M NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 432 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCTGCAAACACGCAGGAAATG 0.552 MFSD6L 162387 broad.mit.edu 37 17 8701786 8701786 + Missense_Mutation SNP C A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:8701786C>A uc002glp.1 - 1 801 c.653G>T c.(652-654)GGG>GTG p.G218V NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 218 integral to membrane central_nervous_system(1) 1 ATTCCCGGGCCCTTTCCCCCC 0.577 UNC45B 146862 broad.mit.edu 37 17 33504108 33504108 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:33504108G>A uc002hja.2 + 16 2201 c.2104G>A c.(2104-2106)GCT>ACT p.A702T UNC45B_uc002hjb.2_Missense_Mutation_p.A700T|UNC45B_uc002hjc.2_Missense_Mutation_p.A700T|UNC45B_uc010cto.2_Missense_Mutation_p.A621T NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 702 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) AGCAAAGATCGCTGCTGTCTC 0.572 SCN4A 6329 broad.mit.edu 37 17 62025418 62025418 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:62025418G>A uc002jds.1 - 17 3227 c.3150C>T c.(3148-3150)TTC>TTT p.F1050F NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1050 III. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGATGTCCTCGAAGGCCTGGG 0.602 AZI1 22994 broad.mit.edu 37 17 79170626 79170626 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:79170626C>T uc002jzp.1 - 15 1983 c.1783G>A c.(1783-1785)GCG>ACG p.A595T AZI1_uc002jzm.1_Missense_Mutation_p.A22T|AZI1_uc002jzn.1_Missense_Mutation_p.A592T|AZI1_uc002jzo.1_Missense_Mutation_p.A592T|AZI1_uc010wum.1_Missense_Mutation_p.A595T|AZI1_uc002jzq.2_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 595 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGCTGCTGCGCCTGCAGGGTG 0.687 LAMA3 3909 broad.mit.edu 37 18 21511088 21511089 + Frame_Shift_Ins INS - G G rs1154233 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr18:21511088_21511089insG uc002kuq.2 + 65 8585_8586 c.8499_8500insG c.(8497-8502)GGCAGCfs p.G2833fs LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2833_2834 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGATAGCGGCAGCCCAATTTT 0.411 CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C - - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:1037646delC uc002lqu.2 + 7 1040 c.677delC c.(676-678)ACCfs p.T226fs ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.1_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.1_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.2_5'Flank NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 226 Calponin-like 2. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCCGGGACCCGGCGGCAC 0.552 FBN3 84467 broad.mit.edu 37 19 8162272 8162272 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:8162272C>T uc002mjf.2 - 41 5209 c.5188G>A c.(5188-5190)GCC>ACC p.A1730T NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1730 EGF-like 26; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCACAGATGGCGGGGATCTCC 0.597 UNC13A 23025 broad.mit.edu 37 19 17769035 17769035 + Nonsense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:17769035G>T uc002nhd.2 - 10 867 c.867C>A c.(865-867)TAC>TAA p.Y289* NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 201 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TTTCACTGCGGTAGTCACTGT 0.562 LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:33695616A>C uc010edh.2 + 4 426 c.333A>C c.(331-333)CCA>CCC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 111 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 MAG 4099 broad.mit.edu 37 19 35793483 35793483 + Missense_Mutation SNP C T T rs144554089 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:35793483C>T uc002nyy.1 + 7 1252 c.1103C>T c.(1102-1104)ACG>ATG p.T368M MAG_uc002nyx.1_Missense_Mutation_p.T368M|MAG_uc010eds.1_Missense_Mutation_p.T343M|MAG_uc002nyz.1_Missense_Mutation_p.T368M NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 368 Ig-like C2-type 3.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding p.T368M(1) breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ATCCTGTCCACGGTCATCTAC 0.582 RYR1 6261 broad.mit.edu 37 19 38958338 38958338 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:38958338C>T uc002oit.2 + 25 3397 c.3267C>T c.(3265-3267)TTC>TTT p.F1089F RYR1_uc002oiu.2_Silent_p.F1089F NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1089 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGTACTTCGAGTTTGAAG 0.592 CYP2S1 29785 broad.mit.edu 37 19 41700569 41700569 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:41700569G>A uc002opw.2 + 2 353 c.298G>A c.(298-300)GGC>AGC p.G100S CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 100 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GGAGTTCAGCGGCCGGGGAAC 0.592 SCAF1 58506 broad.mit.edu 37 19 50157645 50157645 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:50157645C>T uc002poq.2 + 8 3480 c.3356C>T c.(3355-3357)GCG>GTG p.A1119V NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1119 mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GCCAACCTGGCGAGCCGAGCG 0.607 NLRP13 126204 broad.mit.edu 37 19 56424553 56424553 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:56424553G>A uc010ygg.1 - 5 655 c.630C>T c.(628-630)GAC>GAT p.D210D NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 210 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCTCATGTTCGTCCTTTGATG 0.498 XDH 7498 broad.mit.edu 37 2 31595165 31595165 + Silent SNP G A A rs140066757 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:31595165G>A uc002rnv.1 - 17 1864 c.1785C>T c.(1783-1785)GAC>GAT p.D595D NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 595 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 skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 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) GAGGAATGTCGTCACAGTACA 0.647 STRN 6801 broad.mit.edu 37 2 37121134 37121153 + Frame_Shift_Del DEL CTCGATCTTCACCGCTGTCA - - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA uc002rpn.2 - 7 828_847 c.819_838delTGACAGCGGTGAAGATCGAG c.(817-840)CCTGACAGCGGTGAAGATCGAGATfs p.P273fs STRN_uc010ezx.2_Frame_Shift_Del_p.P273fs NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 273_280 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT 0.368 SLC9A4 389015 broad.mit.edu 37 2 103149061 103149061 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:103149061G>T uc002tbz.3 + 12 2768 c.2311G>T c.(2311-2313)GTT>TTT p.V771F NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 771 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GGCCTCTTTGGTTGAGGTTCG 0.537 PKP4 8502 broad.mit.edu 37 2 159519424 159519424 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:159519424G>A uc002tzv.2 + 14 2487 c.2227G>A c.(2227-2229)GTG>ATG p.V743M PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.2_Missense_Mutation_p.V743M|PKP4_uc002tzw.2_Missense_Mutation_p.V743M|PKP4_uc002tzx.2_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.2_Missense_Mutation_p.V595M|uc002uab.1_Intron|PKP4_uc002uac.2_Translation_Start_Site NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 743 ARM 6. cell adhesion desmosome protein binding p.V743M(1) ovary(5)|skin(2) 7 GGAGAACTGCGTGTGCACCCT 0.498 HNSCC(62;0.18) ASNSD1 54529 broad.mit.edu 37 2 190531945 190531945 + Missense_Mutation SNP A G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:190531945A>G uc002uqt.2 + 4 1521 c.1087A>G c.(1087-1089)ATG>GTG p.M363V NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 363 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AGAAAAGACCATGCCAACTAC 0.378 ZSWIM3 140831 broad.mit.edu 37 20 44506102 44506102 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr20:44506102G>A uc002xqd.2 + 2 1108 c.905G>A c.(904-906)CGC>CAC p.R302H ZSWIM3_uc010zxg.1_Missense_Mutation_p.R296H NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 302 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) CCTGCTGCCCGCATCCTCCTT 0.502 KRTAP15-1 254950 broad.mit.edu 37 21 31812738 31812738 + Silent SNP C A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr21:31812738C>A uc002yod.2 + 1 93 c.93C>A c.(91-93)CCC>CCA p.P31P NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 31 intermediate filament 0 TGTTCTACCCCAGCAATGCCA 0.478 SLC5A3 6526 broad.mit.edu 37 21 35468403 35468404 + Frame_Shift_Ins INS - G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr21:35468403_35468404insG uc002yto.2 + 2 1418_1419 c.906_907insG c.(904-909)GCTGGCfs p.A302fs MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 302_303 Cytoplasmic (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 CTCTTATGGCTGGCTTCTTAAA 0.470 MICAL3 57553 broad.mit.edu 37 22 18301237 18301238 + Frame_Shift_Ins INS - C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:18301237_18301238insC uc002zng.3 - 26 4542_4543 c.4189_4190insG c.(4189-4191)GAGfs p.E1397fs MICAL3_uc011agl.1_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1397 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GGACAACGGCTCGCCTTCCGGC 0.644 DERL3 91319 broad.mit.edu 37 22 24179323 24179323 + Missense_Mutation SNP A G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:24179323A>G uc002zyh.2 - 6 567 c.542T>C c.(541-543)ATC>ACC p.I181T DERL3_uc002zyk.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.2_Missense_Mutation_p.I181T|DERL3_uc002zyj.2_Silent_p.Y137Y NM_001002862 NP_001002862 Q96Q80 DERL3_HUMAN derlin 3 isoform 2 181 Cytoplasmic (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process integral to endoplasmic reticulum membrane protein binding ovary(1) 1 GAAGTAGTAGATATGGCCCAC 0.632 SYN3 8224 broad.mit.edu 37 22 32909719 32909719 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:32909719C>T uc003amx.2 - 13 1862 c.1703G>A c.(1702-1704)CGC>CAC p.R568H SYN3_uc003amy.2_3'UTR|SYN3_uc003amz.2_Missense_Mutation_p.R567H NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 568 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 CCTCAGGTTGCGGATGGTTTC 0.572 NAGA 4668 broad.mit.edu 37 22 42458918 42458918 + Silent SNP G A A rs144984228 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:42458918G>A uc003bbx.2 - 8 1007 c.870C>T c.(868-870)TCC>TCT p.S290S NAGA_uc003bby.2_Silent_p.S290S|NAGA_uc003bbw.3_Silent_p.S290S NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 290 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 TGTTCTGGGCGGAGATGGTAC 0.557 CNTN4 152330 broad.mit.edu 37 3 2861249 2861249 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:2861249G>A uc003bpc.2 + 6 659 c.438G>A c.(436-438)CCG>CCA p.P146P CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P146P NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 146 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGTGTGGCCCGCCACCCCATT 0.453 TRIM71 131405 broad.mit.edu 37 3 32933041 32933041 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:32933041G>A uc003cff.2 + 4 2408 c.2345G>A c.(2344-2346)CGC>CAC p.R782H NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 782 NHL 5. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CAGTCGGCACGCTTTCTGGGC 0.617 SDHAP2 727956 broad.mit.edu 37 3 195400814 195400815 + Frame_Shift_Ins INS - TT TT TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:195400814_195400815insTT uc003fuw.2 + 9 1304_1305 c.110_111insTT c.(109-111)TCTfs p.S37fs SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 ACCTGGTTGTCTGGTCAGGCAT 0.574 ZNF721 170960 broad.mit.edu 37 4 436548 436548 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:436548C>T uc003gag.2 - 3 2399 c.1708G>A c.(1708-1710)GCA>ACA p.A570T ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.A602T|ZNF721_uc010ibe.2_Missense_Mutation_p.A558T NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 570 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TAAAGGTTTGCGGACTGTCTA 0.418 CNGA1 1259 broad.mit.edu 37 4 47939480 47939480 + Missense_Mutation SNP C T T rs150374036 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:47939480C>T uc003gxt.3 - 11 1297 c.1031G>A c.(1030-1032)CGT>CAT p.R344H uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R413H NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 344 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TCTAGCCAAACGGCCAAATTC 0.413 PDGFRA 5156 broad.mit.edu 37 4 55133834 55133834 + Missense_Mutation SNP G C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:55133834G>C uc003han.3 + 7 1378 c.1047G>C c.(1045-1047)TGG>TGC p.W349C PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 349 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.W349C(1) soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGATATCCTGGCTGAAAAACA 0.443 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) UFSP2 55325 broad.mit.edu 37 4 186334930 186334930 + Missense_Mutation SNP T C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:186334930T>C uc003ixo.2 - 7 898 c.781A>G c.(781-783)ATT>GTT p.I261V UFSP2_uc003ixn.2_Missense_Mutation_p.I151V|UFSP2_uc003ixq.2_Missense_Mutation_p.I151V|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 261 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGATTTCTAATGTAACCATCT 0.363 TUBB4Q 56604 broad.mit.edu 37 4 190904151 190904152 + Frame_Shift_Ins INS - G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:190904151_190904152insG uc011clg.1 - 4 831_832 c.828_829insC c.(826-831)GGCAGCfs p.G276fs NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 277_278 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) TACTGCTGGCTGCCCCGGCTGG 0.614 CCT5 22948 broad.mit.edu 37 5 10262653 10262653 + Missense_Mutation SNP C A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:10262653C>A uc003jeq.2 + 9 1411 c.1240C>A c.(1240-1242)CGC>AGC p.R414S CCT5_uc003jer.2_Missense_Mutation_p.R414S|CCT5_uc010its.2_Missense_Mutation_p.R414S|CCT5_uc011cmr.1_Missense_Mutation_p.R359S|CCT5_uc011cms.1_Missense_Mutation_p.R376S|CCT5_uc011cmt.1_Missense_Mutation_p.R321S NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 414 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 GAACCTCATCCGCGATAATCG 0.493 SNX18 112574 broad.mit.edu 37 5 53815264 53815264 + Silent SNP C G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:53815264C>G uc003jpj.3 + 1 1672 c.1482C>G c.(1480-1482)GCC>GCG p.A494A SNX18_uc011cqg.1_Silent_p.A494A|SNX18_uc003jpi.3_Silent_p.A494A NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 494 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) AGGCTATCGCCTTCACCGGAG 0.617 FAM53C 51307 broad.mit.edu 37 5 137680780 137680781 + Frame_Shift_Ins INS - G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:137680780_137680781insG uc003lcv.2 + 4 873_874 c.403_404insG c.(403-405)CGGfs p.R135fs FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 135 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCGGTGTGGCGGCCCGCCCCC 0.683 PCDHA11 56138 broad.mit.edu 37 5 140250296 140250296 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:140250296G>A uc003lia.2 + 1 2466 c.1608G>A c.(1606-1608)GCG>GCA p.A536A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A536A NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 536 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGATGCGG 0.667 PCDHGB5 56101 broad.mit.edu 37 5 140779096 140779096 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:140779096G>A uc003lkf.1 + 1 1402 c.1402G>A c.(1402-1404)GCG>ACG p.A468T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A468T NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 468 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTCCATCGCGCAAGTCTG 0.567 RANBP17 64901 broad.mit.edu 37 5 170351426 170351426 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:170351426C>T uc003mba.2 + 12 1356 c.1340C>T c.(1339-1341)ACG>ATG p.T447M RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 447 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGTTGTGCACGGTCAGCAGA 0.413 T TRD@ ALL PKHD1 5314 broad.mit.edu 37 6 51890717 51890717 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr6:51890717C>T uc003pah.1 - 32 4167 c.3891G>A c.(3889-3891)GCG>GCA p.A1297A PKHD1_uc003pai.2_Silent_p.A1297A NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1297 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTGTTGCTGCCGCTTCATACA 0.547 ENPP1 5167 broad.mit.edu 37 6 132203516 132203516 + Missense_Mutation SNP G C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr6:132203516G>C uc011ecf.1 + 21 2152 c.2132G>C c.(2131-2133)TGT>TCT p.C711S NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 711 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTCTCCAACTGTCTGTACCAG 0.383 BBS9 27241 broad.mit.edu 37 7 33397475 33397475 + Nonsense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:33397475C>T uc003tdn.1 + 16 2074 c.1561C>T c.(1561-1563)CGA>TGA p.R521* BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399* NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 521 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AGGCATTCCGCGAGTTATCCA 0.323 Bardet-Biedl_syndrome AOAH 313 broad.mit.edu 37 7 36571797 36571797 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:36571797C>T uc003tfh.3 - 18 1782 c.1381G>A c.(1381-1383)GGC>AGC p.G461S AOAH_uc010kxf.2_Missense_Mutation_p.G461S|AOAH_uc011kba.1_Missense_Mutation_p.G429S NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 461 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 GACATCCAGCCGTGGCAGGGG 0.512 GPR141 353345 broad.mit.edu 37 7 37780909 37780909 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:37780909G>T uc003tfm.1 + 1 914 c.914G>T c.(913-915)CGT>CTT p.R305L uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 305 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity p.R305H(1) ovary(3) 3 GTTTTGTGCCGTTAGCCACAA 0.363 EPDR1 54749 broad.mit.edu 37 7 37989842 37989842 + Silent SNP T C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:37989842T>C uc003tfp.2 + 3 898 c.879T>C c.(877-879)TAT>TAC p.Y293Y EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Silent_p.Y112Y NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 173 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 AGGATTGCTATCCTGTCCAGG 0.388 VSTM2A 222008 broad.mit.edu 37 7 54612435 54612435 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:54612435G>A uc010kzf.2 + 2 605 c.200G>A c.(199-201)CGG>CAG p.R67Q VSTM2A_uc010kze.2_Missense_Mutation_p.R67Q|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67Q NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 67 Ig-like V-type. extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) TGGTTCCTGCGGGGGCCGGAG 0.716 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233091 55233091 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:55233091G>A uc003tqk.2 + 15 2087 c.1841G>A c.(1840-1842)GGC>GAC p.G614D EGFR_uc003tqi.2_Missense_Mutation_p.G614D|EGFR_uc003tqj.2_Missense_Mutation_p.G614D|EGFR_uc010kzg.1_Missense_Mutation_p.G569D|EGFR_uc011kco.1_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 614 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCAGACGCCGGCCATGTGTGC 0.537 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) KIAA1324L 222223 broad.mit.edu 37 7 86548556 86548556 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:86548556G>T uc011kha.1 - 11 1655 c.1470C>A c.(1468-1470)AAC>AAA p.N490K KIAA1324L_uc003uif.1_Missense_Mutation_p.N250K|KIAA1324L_uc011kgz.1_Missense_Mutation_p.N376K|KIAA1324L_uc003uie.2_Missense_Mutation_p.N323K NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 490 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GGATATGCAAGTTTAAGATCA 0.373 FAM200A 221786 broad.mit.edu 37 7 99145995 99145995 + Silent SNP A C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:99145995A>C uc003ura.2 - 2 375 c.36T>G c.(34-36)TCT>TCG p.S12S FAM200A_uc003urb.2_Silent_p.S12S NM_145111 NP_659802 Q8TCP9 F200A_HUMAN hypothetical protein LOC221786 12 Extracellular (Potential). integral to membrane nucleic acid binding 0 TACCCCCTGGAGACAAATCTG 0.408 FBXO24 26261 broad.mit.edu 37 7 100197689 100197689 + Silent SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:100197689C>T uc003uvm.1 + 9 1535 c.1242C>T c.(1240-1242)TGC>TGT p.C414C FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Silent_p.C452C|FBXO24_uc011kka.1_Silent_p.C402C|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 414 RCC1. ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCTGTGGTGCGGCCTCAACC 0.692 SVOPL 136306 broad.mit.edu 37 7 138314843 138314843 + Missense_Mutation SNP G T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:138314843G>T uc011kqh.1 - 9 814 c.814C>A c.(814-816)CTA>ATA p.L272I SVOPL_uc003vue.2_Missense_Mutation_p.L120I NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 272 integral to membrane transmembrane transporter activity 0 GCATCCAATAGGTCTGCAAAT 0.393 TRY6 154754 broad.mit.edu 37 7 142481789 142481789 + Silent SNP T C C rs140267598 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:142481789T>C uc011ksq.1 + 4 551 c.468T>C c.(466-468)GAT>GAC p.D156D uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 ACTACCCAGATGAGCTGCAGT 0.488 NOS3 4846 broad.mit.edu 37 7 150699051 150699051 + Missense_Mutation SNP C T T rs142781987 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:150699051C>T uc003wif.2 + 13 1941 c.1645C>T c.(1645-1647)CGG>TGG p.R549W NOS3_uc011kuy.1_Missense_Mutation_p.R343W|NOS3_uc011kuz.1_Missense_Mutation_p.R549W|NOS3_uc011kva.1_Missense_Mutation_p.R549W|NOS3_uc011kvb.1_Missense_Mutation_p.R549W NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 549 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TTTTGATCCCCGGGTAGGGCT 0.612 NEIL2 252969 broad.mit.edu 37 8 11643604 11643604 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:11643604G>A uc003wug.2 + 5 1496 c.821G>A c.(820-822)GGC>GAC p.G274D NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 274 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TGGCTGCAGGGCAAGTTCCAA 0.607 BER_DNA_glycosylases DOCK5 80005 broad.mit.edu 37 8 25191663 25191663 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:25191663G>A uc003xeg.2 + 21 2280 c.2143G>A c.(2143-2145)GTA>ATA p.V715I DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.2_Missense_Mutation_p.V285I|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 715 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTTTAATCCTGTACTTGAAAC 0.368 TEX15 56154 broad.mit.edu 37 8 30700748 30700748 + Missense_Mutation SNP T C C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:30700748T>C uc003xil.2 - 1 5786 c.5786A>G c.(5785-5787)CAG>CGG p.Q1929R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1929 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATATATCTTCTGCAACTTAGA 0.358 ST18 9705 broad.mit.edu 37 8 53025895 53025895 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:53025895G>A uc003xqz.2 - 21 3163 c.3007C>T c.(3007-3009)CCT>TCT p.P1003S ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 1003 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCACTGATAGGTCCCTAAATG 0.463 CPA6 57094 broad.mit.edu 37 8 68334862 68334862 + Silent SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:68334862G>A uc003xxq.3 - 11 1447 c.1191C>T c.(1189-1191)TTC>TTT p.F397F CPA6_uc003xxr.3_Silent_p.F153F NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 397 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CACGTAGTTCGAAAGCAAATG 0.383 JPH1 56704 broad.mit.edu 37 8 75171694 75171694 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:75171694G>A uc003yae.2 - 3 1224 c.1184C>T c.(1183-1185)GCG>GTG p.A395V JPH1_uc003yaf.2_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 395 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AGCGGCCAGCGCGGCCTGGTC 0.597 RAD54B 25788 broad.mit.edu 37 8 95412584 95412584 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:95412584C>T uc003ygk.2 - 7 1150 c.1052G>A c.(1051-1053)GGC>GAC p.G351D RAD54B_uc010may.1_Missense_Mutation_p.G158D|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TACTGGCTTGCCTCCATAGGG 0.433 Direct_reversal_of_damage|Homologous_recombination TRPS1 7227 broad.mit.edu 37 8 116616647 116616647 + Missense_Mutation SNP C G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:116616647C>G uc003ynz.2 - 3 1969 c.1510G>C c.(1510-1512)GGG>CGG p.G504R TRPS1_uc011lhy.1_Missense_Mutation_p.G508R|TRPS1_uc003yny.2_Missense_Mutation_p.G517R|TRPS1_uc010mcy.2_Missense_Mutation_p.G504R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 504 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTTAGCCCCACTCGAGCTC 0.438 Langer-Giedion_syndrome DMRTA1 63951 broad.mit.edu 37 9 22447335 22447336 + Frame_Shift_Ins INS - A A rs111465355 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr9:22447335_22447336insA uc003zpp.1 + 1 496_497 c.271_272insA c.(271-273)TACfs p.Y91fs NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 91 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|skin(1) 2 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) GGGCTGCGGCTACCCGCGGACG 0.624 VAV2 7410 broad.mit.edu 37 9 136653541 136653541 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr9:136653541C>T uc004ces.2 - 15 1388 c.1342G>A c.(1342-1344)GAG>AAG p.E448K VAV2_uc004cer.2_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 448 PH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TCGATGATCTCCTTGAGCTCG 0.592 AMELX 265 broad.mit.edu 37 X 11316747 11316747 + Missense_Mutation SNP C T T rs148259441 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:11316747C>T uc004cut.2 + 5 292 c.224C>T c.(223-225)CCG>CTG p.P75L ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P89L|AMELX_uc004cuu.2_Missense_Mutation_p.P59L NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 75 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 CAGCACCCCCCGACTCACACC 0.602 ZCCHC16 340595 broad.mit.edu 37 X 111698312 111698312 + Missense_Mutation SNP G C C rs149089921 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:111698312G>C uc004epo.1 + 3 797 c.356G>C c.(355-357)AGT>ACT p.S119T NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 119 nucleic acid binding|zinc ion binding ovary(1) 1 CCTGACAAGAGTACCTTACTG 0.383 DCAF12L2 340578 broad.mit.edu 37 X 125299765 125299765 + Missense_Mutation SNP C T T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:125299765C>T uc004euk.1 - 1 170 c.143G>A c.(142-144)CGT>CAT p.R48H NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 48 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CAGCCTGCGACGCGTCGCCGG 0.731 AFF2 2334 broad.mit.edu 37 X 147967460 147967460 + Missense_Mutation SNP A G G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:147967460A>G uc004fcp.2 + 8 1783 c.1304A>G c.(1303-1305)GAC>GGC p.D435G AFF2_uc004fco.2_Missense_Mutation_p.D396G|AFF2_uc004fcq.2_Missense_Mutation_p.D425G|AFF2_uc004fcr.2_Missense_Mutation_p.D396G|AFF2_uc011mxb.1_Missense_Mutation_p.D400G|AFF2_uc004fcs.2_Missense_Mutation_p.D402G|AFF2_uc011mxc.1_Missense_Mutation_p.D76G NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 435 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GATGAAGATGACCTTGAGCCT 0.483 TGIF2LY 90655 broad.mit.edu 37 Y 3447632 3447632 + Missense_Mutation SNP G A A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrY:3447632G>A uc004fqk.2 + 2 411 c.347G>A c.(346-348)CGT>CAT p.R116H NM_139214 NP_631960 Q8IUE0 TF2LY_HUMAN TGFB-induced factor homeobox 2-like, Y-linked 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTTCAACAGCGTAGAAACGAC 0.527