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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:1149465C>T uc001adf.3 - 0 TNFRSF4_uc001ade.3_Missense_Mutation_p.A15T P43489 TNR4_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA. 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 large_intestine(1)|lung(2)|urinary_tract(1) 4 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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:6638981_6638982insT uc001ant.3 + 5 1959_1960 c.1863_1864insT c.(1861-1866)ggcttcfs p.G621fs TAS1R1_uc001anu.3_Frame_Shift_Ins_p.G367fs|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 621 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:16065774_16065775insC uc001axb.1 + 4 960_961 c.788_789insC c.(787-789)ggcfs p.G263fs NM_207348 NP_997231 Q6PIV7 S2534_HUMAN Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA. 263 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:24710467G>T uc001bjc.3 - 3 383 c.216C>A c.(214-216)taC>taA p.Y72* C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjd.3_Nonsense_Mutation_p.Y72*|C1orf201_uc001bjf.3_5'UTR NM_001199013 NP_001185942 Q5TH74 CA201_HUMAN Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA. 72 breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 15 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) GAATAACATTGTAGAACCCAG 0.438 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:39799059_39799060insG uc021olw.1 + 0 2119_2120 c.2119_2120insG c.(2119-2121)aggfs p.R707fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 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 breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:43213879G>A uc001chx.4 - 11 1943 c.1830C>T c.(1828-1830)cgC>cgT p.R610R LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chv.2_Silent_p.R610R NM_001243246 NP_001230175 Q32P28 P3H1_HUMAN Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA. 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 large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:45808763_45808764insG uc009vxq.3 + 7 1505_1506 c.922_923insG c.(922-924)tggfs p.W308fs MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.4_Non-coding_Transcript NM_025077 NP_079353 Q96GM8 TOE1_HUMAN Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA. 308 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) GGCTTATGGCTGGTGCCCCCTG 0.569 GIPC2 54810 broad.mit.edu 37 1 78560730 78560730 + Missense_Mutation SNP G G A rs143579527 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:78560730G>A uc001dik.3 + 2 711 c.521G>A c.(520-522)cGt>cAt p.R174H 5S_rRNA_uc021oov.1_5'Flank NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA. 174 PDZ. cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 GTTGGGTGGCGTCACTATGAT 0.348 SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:115537600_115537601insA uc001efr.3 + 31 3100_3101 c.2891_2892insA c.(2890-2892)agafs p.R964fs SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 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 A T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:145594170A>T uc001eog.3 - 13 1474 c.1431T>A c.(1429-1431)tcT>tcA p.S477S POLR3C_uc001eoh.3_Silent_p.S464S|POLR3C_uc009wix.3_Intron NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA. 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 breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 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 T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:151162515T>C uc001exe.1 - 0 126 c.83A>G c.(82-84)gAg>gGg p.E28G VPS72_uc001exf.1_Missense_Mutation_p.E28G NM_005997 NP_005988 Q15906 VPS72_HUMAN Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA. 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)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 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 C A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:165532851C>A uc001gde.2 + 1 788 c.732C>A c.(730-732)gaC>gaA p.D244E LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 244 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 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 T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr1:169698757T>C uc001ggm.4 - 5 930 c.773A>G c.(772-774)aAc>aGc p.N258S C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 258 Sushi 2. 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 breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GCTTCCAGGGTTTTGGAAACA 0.438 KIAA1217 56243 broad.mit.edu 37 10 24790356 24790356 + Missense_Mutation SNP C C T rs141937477 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:24790356C>T uc001iru.4 + 8 2286 c.1883C>T c.(1882-1884)aCg>aTg p.T628M KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 628 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTGGAGTCCACGGTGCCTCCC 0.582 ARMC4 55130 broad.mit.edu 37 10 28229528 28229528 + Missense_Mutation SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:28229528A>C uc009xky.3 - 12 2048 c.1950T>G c.(1948-1950)atT>atG p.I650M ARMC4_uc010qds.2_Missense_Mutation_p.I175M|ARMC4_uc010qdt.2_Missense_Mutation_p.I342M|ARMC4_uc001itz.3_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 650 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCACCACTGGAATTAGCATGT 0.473 OR13A1 79290 broad.mit.edu 37 10 45799324 45799324 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:45799324G>A uc001jcc.1 - 3 856 c.547C>T c.(547-549)Cgc>Tgc p.R183C OR13A1_uc001jcd.1_Missense_Mutation_p.R179C|OR13A1_uc021ppq.1_Missense_Mutation_p.R183C NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 AAATCCAAGCGCAGCATCAGC 0.587 DNTT 1791 broad.mit.edu 37 10 98079146 98079146 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:98079146C>T uc001kmf.3 + 3 677 c.507_splice c.e3+1 p.T169_splice DNTT_uc001kmg.3_Splice_Site_p.T169_splice NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 169 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr10:102510548C>T uc001krk.4 + 2 860 c.310C>T c.(310-312)Cga>Tga p.R104* PAX2_uc001krm.4_Nonsense_Mutation_p.R104*|PAX2_uc001krn.4_Nonsense_Mutation_p.R104*|PAX2_uc001kro.4_Nonsense_Mutation_p.R104*|PAX2_uc010qps.2_Nonsense_Mutation_p.R103*|PAX2_uc001krl.4_Nonsense_Mutation_p.R104*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108* NM_003990 NP_003981 Q02962 PAX2_HUMAN Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA. 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 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:55433358G>T uc010rik.2 + 0 716 c.716G>T c.(715-717)aGc>aTc p.S239I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCTACCTGCAGCTCCCACCTC 0.502 NUDT22 84304 broad.mit.edu 37 11 63997583 63997583 + Missense_Mutation SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:63997583A>C uc001nyr.1 - 0 1178 c.746T>G c.(745-747)gTt>gGt p.V249G DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:66084227_66084228insC uc001ohm.1 - 0 288_289 c.271_272insG c.(271-273)gccfs p.A91fs NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 91 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GCATTGCCGGGCCTGCCGCTGC 0.723 CLMP 79827 broad.mit.edu 37 11 122944226 122944226 + Missense_Mutation SNP G G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr11:122944226G>T uc001pyt.3 - 6 1437 c.1078C>A c.(1078-1080)Ccc>Acc p.P360T NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN Homo sapiens CXADR-like membrane protein (CLMP), mRNA. 360 integral to membrane|tight junction p.P360P(1) endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 ATCATGCTGGGTGTGGTTTCT 0.537 CD4 920 broad.mit.edu 37 12 6923329 6923329 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:6923329G>A uc001qqv.2 + 3 494 c.236G>A c.(235-237)cGc>cAc p.R79H CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.R24H|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA. 79 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 breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) CTGAATGATCGCGCTGACTCA 0.522 PHC1 1911 broad.mit.edu 37 12 9087006 9087006 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:9087006G>A uc001qvd.3 + 9 2341 c.2185G>A c.(2185-2187)Gtg>Atg p.V729M PHC1_uc001qve.3_Missense_Mutation_p.V729M NM_004426 NP_004417 P78364 PHC1_HUMAN Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA. 729 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 ACAGGCCATCGTGAAGCCCCA 0.542 BICD1 636 broad.mit.edu 37 12 32491868 32491868 + Missense_Mutation SNP G G C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:32491868G>C uc001rku.3 + 7 2800 c.2719G>C c.(2719-2721)Ggg>Cgg p.G907R BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript NM_001714 NP_001705 Q96G01 BICD1_HUMAN Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA. 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 NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:50232500C>T uc001rvh.3 - 1 575 c.533G>A c.(532-534)gGc>gAc p.G178D LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. 178 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:53928392G>A uc001sdy.3 - 4 508 c.487C>T c.(487-489)Cgt>Tgt p.R163C ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R152C|ATF7_uc010sol.2_Missense_Mutation_p.R131C NM_001130059 NP_001123531 P17544 ATF7_HUMAN Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA. 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 endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 GAGCCAGGACGTACAATGGTG 0.512 SDR9C7 121214 broad.mit.edu 37 12 57328041 57328041 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:57328041G>A uc010sqw.2 - 0 149 c.5C>T c.(4-6)gCg>gTg p.A2V NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA. 2 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TGTGAGGGCCGCCATAGGGCA 0.542 AVIL 10677 broad.mit.edu 37 12 58207190 58207190 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:58207190C>T uc001sqj.2 - 2 187 c.158G>A c.(157-159)aGt>aAt p.S53N AVIL_uc009zqe.2_Missense_Mutation_p.S46N|AVIL_uc001sql.4_Missense_Mutation_p.S30N NM_006576 NP_006567 O75366 AVIL_HUMAN Homo sapiens advillin (AVIL), mRNA. 53 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:69653833G>T uc001sut.4 + 7 1435 c.1325G>T c.(1324-1326)gGg>gTg p.G442V CPSF6_uc001suu.4_Missense_Mutation_p.G479V|CPSF6_uc010stk.2_Missense_Mutation_p.G73V NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 442 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 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 0.353 NOS1 4842 broad.mit.edu 37 12 117718572 117718572 + Silent SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:117718572G>A uc001twn.2 - 7 2193 c.1482C>T c.(1480-1482)gaC>gaT p.D494D NOS1_uc021ren.1_Silent_p.D158D|NOS1_uc021reo.1_Silent_p.D158D|NOS1_uc001twm.2_Silent_p.D494D NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 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 p.D494D(4) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:126004117C>T uc001uhe.1 + 3 1232 c.1224C>T c.(1222-1224)gtC>gtT p.V408V TMEM132B_uc021rgl.1_Silent_p.V298V NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 408 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 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 C T rs144231014 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr12:129360558C>T uc010tbh.1 + 1 144 c.135C>T c.(133-135)tgC>tgT p.C45C GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_Non-coding_Transcript NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA. 56 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 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 A G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:20409775A>G uc010tcn.1 - 6 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 Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA. 365 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 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 A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:35730325A>C uc021rid.1 + 19 3167 c.2633A>C c.(2632-2634)aAc>aCc p.N878T NBEA_uc021ric.1_Missense_Mutation_p.N878T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 878 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 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 C T rs144213801 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr13:78176839C>T uc001vki.3 + 16 1198 c.1028C>T c.(1027-1029)aCg>aTg p.T343M SCEL_uc010thx.2_Missense_Mutation_p.T321M|SCEL_uc001vkj.3_Missense_Mutation_p.T323M NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 343 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 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 C - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:31582555delC uc001wrc.1 - 32 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 Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 1998 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:47120929C>T uc001wwg.3 - 0 100 c.11G>A c.(10-12)cGt>cAt p.R4H NM_080746 NP_542784 Q96L21 RL10L_HUMAN Homo sapiens ribosomal protein L10-like (RPL10L), mRNA. 4 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome p.R4S(2)|p.R3R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 GCGAGCTGGACGGCGCCCCAT 0.557 ACYP1 97 broad.mit.edu 37 14 75520272 75520272 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:75520272C>T uc001xrg.3 - 2 263 c.175G>A c.(175-177)Gtg>Atg p.V59M MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR NM_001107 NP_001098 P07311 ACYP1_HUMAN Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA. 59 Acylphosphatase-like. phosphate metabolic process acylphosphatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.00646) ATATGACGCACCTTGGAGATG 0.478 AHNAK2 113146 broad.mit.edu 37 14 105412495 105412495 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr14:105412495G>A uc010axc.1 - 6 9413 c.9293C>T c.(9292-9294)aCg>aTg p.T3098M AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3098 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:42111153C>T uc001zok.4 + 20 2593 c.2307C>T c.(2305-2307)aaC>aaT p.N769N MAPKBP1_uc010bci.3_Silent_p.N763N|MAPKBP1_uc010udb.2_Silent_p.N602N|MAPKBP1_uc001zoj.4_Silent_p.N763N|MAPKBP1_uc010bcj.3_Silent_p.N270N|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.N270N NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 769 p.N763N(1) breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 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 T G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:43653907T>G uc001zrk.1 - 4 2070 c.1923A>C c.(1921-1923)caA>caC p.Q641H ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 641 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr15:73044826_73044827insT uc002avg.4 - 6 1443_1444 c.1349_1350insA c.(1348-1350)aagfs p.K450fs ADPGK_uc002ave.4_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.2_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.4_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.4_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.4_Frame_Shift_Ins_p.K211fs NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA. 450 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CTACTACTGGCTTGTTTGGGTT 0.490 SSTR5 6755 broad.mit.edu 37 16 1129417 1129417 + Silent SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:1129417C>T uc021taf.1 + 1 620 c.549C>T c.(547-549)ggC>ggT p.G183G LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 183 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) TGCAGGAGGGCGGTACCTGCA 0.716 TMC5 79838 broad.mit.edu 37 16 19451842 19451842 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:19451842C>T uc002dgc.4 + 2 1231 c.482C>T c.(481-483)cCg>cTg p.P161L TMC5_uc010vaq.2_Missense_Mutation_p.P161L|TMC5_uc002dgb.4_Missense_Mutation_p.P161L|TMC5_uc010var.2_Missense_Mutation_p.P161L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 161 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCCTTAGAACCGGACTACCCT 0.478 OTOA 146183 broad.mit.edu 37 16 21689852 21689852 + Missense_Mutation SNP C C T rs144912852 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:21689852C>T uc002djh.3 + 0 18 c.17C>T c.(16-18)aCg>aTg p.T6M LOC23117_uc021tel.1_Intron NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 6 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CAGGAACCTACGACATACTCC 0.373 GTF3C1 2975 broad.mit.edu 37 16 27518426 27518426 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr16:27518426C>T uc002dov.2 - 8 1334 c.1294G>A c.(1294-1296)Gtg>Atg p.V432M GTF3C1_uc002dou.3_Missense_Mutation_p.V432M NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 432 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCTGCAAACACGCAGGAAATG 0.552 MFSD6L 162387 broad.mit.edu 37 17 8701786 8701786 + Missense_Mutation SNP C C A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:8701786C>A uc002glp.2 - 0 882 c.653G>T c.(652-654)gGg>gTg p.G218V NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 218 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 ATTCCCGGGCCCTTTCCCCCC 0.577 UNC45B 146862 broad.mit.edu 37 17 33504108 33504108 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:33504108G>A uc002hja.3 + 15 2201 c.2104G>A c.(2104-2106)Gct>Act p.A702T UNC45B_uc002hjb.3_Missense_Mutation_p.A700T|UNC45B_uc002hjc.3_Missense_Mutation_p.A700T|UNC45B_uc010cto.3_Missense_Mutation_p.A621T NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 702 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGCAAAGATCGCTGCTGTCTC 0.572 SCN4A 6329 broad.mit.edu 37 17 62025418 62025418 + Silent SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:62025418G>A uc002jds.1 - 16 3227 c.3150C>T c.(3148-3150)ttC>ttT p.F1050F NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1050 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGATGTCCTCGAAGGCCTGGG 0.602 AZI1 22994 broad.mit.edu 37 17 79170626 79170626 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr17:79170626C>T uc002jzp.1 - 15 1983 c.1783_splice c.e15-1 p.A595_splice AZI1_uc002jzm.1_Splice_Site_p.A22_splice|AZI1_uc002jzn.1_Splice_Site_p.A592_splice|AZI1_uc002jzo.1_Splice_Site_p.A592_splice|AZI1_uc010wum.1_Splice_Site_p.A595_splice|AZI1_uc002jzq.3_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA. 595 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 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 rs1154233 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr18:21511088_21511089insG uc002kuq.3 + 64 8585_8586 c.8499_8500insG c.(8497-8502)ggcagcfs p.G2833fs LAMA3_uc002kur.3_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.4_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.4_Frame_Shift_Ins_p.G1168fs NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2833 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 p.S2834I(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 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 C - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:1037646delC uc002lqu.3 + 6 1040 c.677delC c.(676-678)accfs p.T226fs ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.2_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.2_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.3_5'Flank NM_004368 NP_004359 Q99439 CNN2_HUMAN Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA. 226 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 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 0.632 FBN3 84467 broad.mit.edu 37 19 8162272 8162272 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:8162272C>T uc002mjf.3 - 40 5205 c.5188G>A c.(5188-5190)Gcc>Acc p.A1730T NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1730 EGF-like 26; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCACAGATGGCGGGGATCTCC 0.597 UNC13A 23025 broad.mit.edu 37 19 17769035 17769035 + Nonsense_Mutation SNP G G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:17769035G>T uc021uqk.1 - 8 645 c.603C>A c.(601-603)taC>taA p.Y201* NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 201 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.Y289*(1)|p.Y201*(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTTCACTGCGGTAGTCACTGT 0.562 LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:33695616A>C uc010edh.3 + 3 426 c.333A>C c.(331-333)ccA>ccC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA. 111 CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity p.P111P(2) breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 MAG 4099 broad.mit.edu 37 19 35793483 35793483 + Missense_Mutation SNP C C T rs144554089 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:35793483C>T uc002nyy.2 + 6 1301 c.1103C>T c.(1102-1104)aCg>aTg p.T368M MAG_uc002nyx.2_Missense_Mutation_p.T368M|MAG_uc010eds.2_Missense_Mutation_p.T343M|MAG_uc002nyz.2_Missense_Mutation_p.T368M NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 368 Ig-like C2-type 3. 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(2)|p.T368T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:38958338C>T uc002oit.3 + 24 3397 c.3267C>T c.(3265-3267)ttC>ttT p.F1089F RYR1_uc002oiu.3_Silent_p.F1089F NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1089 6 X approximate repeats.|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 NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGTACTTCGAGTTTGAAG 0.592 CYP2S1 29785 broad.mit.edu 37 19 41700569 41700569 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:41700569G>A uc002opw.3 + 1 353 c.298G>A c.(298-300)Ggc>Agc p.G100S CYP2S1_uc010xvx.2_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 100 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity p.G100S(2)|p.S99G(1) breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GGAGTTCAGCGGCCGGGGAAC 0.637 SCAF1 58506 broad.mit.edu 37 19 50157645 50157645 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:50157645C>T uc002poq.3 + 7 3480 c.3356C>T c.(3355-3357)gCg>gTg p.A1119V NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 1119 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr19:56424553G>A uc010ygg.2 - 4 655 c.630C>T c.(628-630)gaC>gaT p.D210D NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 210 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 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 G A rs140066757 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:31595165G>A uc002rnv.1 - 16 1864 c.1785C>T c.(1783-1785)gaC>gaT p.D595D NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 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 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAGGAATGTCGTCACAGTACA 0.647 STRN 6801 broad.mit.edu 37 2 37121134 37121153 + Frame_Shift_Del DEL CTCGATCTTCACCGCTGTCA CTCGATCTTCACCGCTGTCA - TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA uc002rpn.3 - 6 828_847 c.819_838delTGACAGCGGTGAAGATCGAG c.(817-840)cctgacagcggtgaagatcgagatfs p.P273fs STRN_uc010ezx.3_Frame_Shift_Del_p.P273fs NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 273 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 p.D274E(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:103149061G>T uc002tbz.4 + 11 2768 c.2311G>T c.(2311-2313)Gtt>Ttt p.V771F NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 771 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GGCCTCTTTGGTTGAGGTTCG 0.537 PKP4 8502 broad.mit.edu 37 2 159519424 159519424 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:159519424G>A uc002tzv.3 + 13 2487 c.2227G>A c.(2227-2229)Gtg>Atg p.V743M PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.3_Missense_Mutation_p.V743M|PKP4_uc002tzw.3_Missense_Mutation_p.V743M|PKP4_uc002tzx.3_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.3_Missense_Mutation_p.V595M|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR NM_003628 NP_003619 Q99569 PKP4_HUMAN Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA. 743 cell adhesion desmosome protein binding p.V743M(2) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 GGAGAACTGCGTGTGCACCCT 0.498 HNSCC(62;0.18) ASNSD1 54529 broad.mit.edu 37 2 190531945 190531945 + Missense_Mutation SNP A A G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr2:190531945A>G uc002uqt.3 + 3 1521 c.1087A>G c.(1087-1089)Atg>Gtg p.M363V NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA. 363 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr20:44506102G>A uc002xqd.3 + 1 1150 c.905G>A c.(904-906)cGc>cAc p.R302H ZSWIM3_uc010zxg.2_Missense_Mutation_p.R296H NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. 302 zinc ion binding p.A301A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) CCTGCTGCCCGCATCCTCCTT 0.502 KRTAP15-1 254950 broad.mit.edu 37 21 31812738 31812738 + Silent SNP C C A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr21:31812738C>A uc002yod.3 + 0 93 c.93C>A c.(91-93)ccC>ccA p.P31P NM_181623 NP_853654 Q3LI76 KR151_HUMAN Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA. 31 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TGTTCTACCCCAGCAATGCCA 0.478 SLC5A3 6526 broad.mit.edu 37 21 35468403 35468404 + Frame_Shift_Ins INS - - G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr21:35468403_35468404insG uc021wir.1 + 0 906_907 c.906_907insG c.(904-909)gctggcfs p.A302fs SLC5A3_uc002yto.3_Frame_Shift_Ins_p.A302fs|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 302 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CTCTTATGGCTGGCTTCTTAAA 0.470 MICAL3 57553 broad.mit.edu 37 22 18301237 18301238 + Frame_Shift_Ins INS - - C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:18301237_18301238insC uc002zng.4 - 25 4542_4543 c.4189_4190insG c.(4189-4191)gagfs p.E1397fs MICAL3_uc011agl.2_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1397 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 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 A G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:24179323A>G uc002zyk.4 - 5 567 c.542T>C c.(541-543)aTc>aCc p.I181T DERL3_uc002zyh.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.3_Missense_Mutation_p.I181T|DERL3_uc002zyj.3_Silent_p.Y137Y|DERL3_uc021wmv.1_5'Flank NM_001135751 NP_001129223 Q96Q80 DERL3_HUMAN Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA. 181 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process integral to endoplasmic reticulum membrane protein binding ovary(1)|prostate(1)|skin(1) 3 GAAGTAGTAGATATGGCCCAC 0.632 SYN3 8224 broad.mit.edu 37 22 32909719 32909719 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:32909719C>T uc003amx.3 - 12 1865 c.1703G>A c.(1702-1704)cGc>cAc p.R568H SYN3_uc003amy.3_3'UTR|SYN3_uc003amz.3_Missense_Mutation_p.R567H NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 568 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.R568H(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CCTCAGGTTGCGGATGGTTTC 0.572 NAGA 4668 broad.mit.edu 37 22 42458918 42458918 + Silent SNP G G A rs144984228 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr22:42458918G>A uc003bbw.4 - 6 1415 c.870C>T c.(868-870)tcC>tcT p.S290S NM_000262 NP_000253 P17050 NAGAB_HUMAN Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA. 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)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TGTTCTGGGCGGAGATGGTAC 0.557 CNTN4 152330 broad.mit.edu 37 3 2861249 2861249 + Silent SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:2861249G>A uc003bpc.3 + 6 777 c.438G>A c.(436-438)ccG>ccA p.P146P CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.P146P|CNTN4_uc003bpd.1_Silent_p.P146P NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 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 NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:32933041G>A uc003cff.3 + 3 2408 c.2345G>A c.(2344-2346)cGc>cAc p.R782H NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 782 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGTCGGCACGCTTTCTGGGC 0.617 SDHAP2 727956 broad.mit.edu 37 3 195400814 195400815 + Frame_Shift_Ins INS - - TT TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr3:195400814_195400815insTT uc003fuw.3 + 8 1304_1305 c.110_111insTT c.(109-111)tctfs p.S37fs SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. ACCTGGTTGTCTGGTCAGGCAT 0.574 ABCA11P 170960 broad.mit.edu 37 4 436548 436548 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:436548C>T uc003gaf.4 - 2 2030 c.1804G>A c.(1804-1806)Gca>Aca p.A602T ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.A570T|ABCA11P_uc010ibe.3_Missense_Mutation_p.A558T NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TAAAGGTTTGCGGACTGTCTA 0.418 CNGA1 1259 broad.mit.edu 37 4 47939480 47939480 + Missense_Mutation SNP C C T rs150374036 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:47939480C>T uc003gxu.3 - 9 1379 c.1238G>A c.(1237-1239)cGt>cAt p.R413H BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R344H NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 344 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TCTAGCCAAACGGCCAAATTC 0.413 PDGFRA 5156 broad.mit.edu 37 4 55133834 55133834 + Missense_Mutation SNP G G C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:55133834G>C uc003han.4 + 6 1378 c.1047G>C c.(1045-1047)tgG>tgC p.W349C PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 349 Ig-like C2-type 4. 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(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 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, paediatric GBM""" 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 T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:186334930T>C uc003ixo.2 - 6 898 c.781A>G c.(781-783)Att>Gtt p.I261V UFSP2_uc003ixq.2_Missense_Mutation_p.I151V NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA. 261 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 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 TUBB7P 56604 broad.mit.edu 37 4 190904151 190904152 + Frame_Shift_Ins INS - - G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr4:190904151_190904152insG uc011clg.2 - 3 833_834 c.615_616insC c.(613-618)ggcagcfs p.G205fs Q99867 TBB4Q_HUMAN Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system. 277 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity TACTGCTGGCTGCCCCGGCTGG 0.614 CCT5 22948 broad.mit.edu 37 5 10262653 10262653 + Missense_Mutation SNP C C A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:10262653C>A uc003jeq.3 + 8 1411 c.1240C>A c.(1240-1242)Cgc>Agc p.R414S CCT5_uc011cmr.2_Missense_Mutation_p.R359S|CCT5_uc011cms.2_Missense_Mutation_p.R376S|CCT5_uc011cmt.2_Missense_Mutation_p.R321S NM_012073 NP_036205 P48643 TCPE_HUMAN Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA. 414 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding p.I413I(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GAACCTCATCCGCGATAATCG 0.493 SNX18 112574 broad.mit.edu 37 5 53815264 53815264 + Silent SNP C C G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:53815264C>G uc003jpj.4 + 0 1672 c.1482C>G c.(1480-1482)gcC>gcG p.A494A SNX18_uc011cqg.2_Silent_p.A494A|SNX18_uc003jpi.4_Silent_p.A494A NM_052870 NP_443102 Q96RF0 SNX18_HUMAN Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA. 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 endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 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 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:137680780_137680781insG uc003lcv.3 + 3 873_874 c.403_404insG c.(403-405)cggfs p.R135fs FAM53C_uc003lcw.3_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron NM_001135647 NP_057689 Q9NYF3 FA53C_HUMAN Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA. 135 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCGGTGTGGCGGCCCGCCCCC 0.683 PCDHAC2 56138 broad.mit.edu 37 5 140250296 140250296 + Silent SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:140250296G>A uc003lia.2 + 0 2466 c.1608G>A c.(1606-1608)gcG>gcA p.A536A PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A536A NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 551 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGATGCGG 0.667 PCDHGC5 56101 broad.mit.edu 37 5 140779096 140779096 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:140779096G>A uc003lkf.2 + 0 1402 c.1402G>A c.(1402-1404)Gcg>Acg p.A468T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A468T NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 474 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTCCATCGCGCAAGTCTG 0.567 RANBP17 64901 broad.mit.edu 37 5 170351426 170351426 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr5:170351426C>T uc003mba.3 + 11 1482 c.1340C>T c.(1339-1341)aCg>aTg p.T447M RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 447 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.T447M(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr6:51890717C>T uc003pah.1 - 31 4167 c.3891G>A c.(3889-3891)gcG>gcA p.A1297A PKHD1_uc003pai.3_Silent_p.A1297A NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1297 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 p.A1297V(1)|p.A1297T(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTGTTGCTGCCGCTTCATACA 0.547 ENPP1 5167 broad.mit.edu 37 6 132203516 132203516 + Missense_Mutation SNP G G C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr6:132203516G>C uc011ecf.2 + 20 2152 c.2132G>C c.(2131-2133)tGt>tCt p.C711S NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 711 Nuclease. 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 autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:33397475C>T uc003tdn.1 + 15 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_Non-coding_Transcript|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 Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 521 R -> Q (in dbSNP:rs34218557). fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.R521Q(1) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:36571797C>T uc022abu.1 - 17 1782 c.1381G>A c.(1381-1383)Ggc>Agc p.G461S AOAH_uc003tfh.4_Missense_Mutation_p.G461S|AOAH_uc011kba.2_Missense_Mutation_p.G429S NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 461 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.H460H(2) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GACATCCAGCCGTGGCAGGGG 0.512 GPR141 353345 broad.mit.edu 37 7 37780909 37780909 + Missense_Mutation SNP G G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:37780909G>T uc003tfm.1 + 0 914 c.914G>T c.(913-915)cGt>cTt p.R305L BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 305 integral to membrane|plasma membrane G-protein coupled receptor activity p.R305L(4)|p.R305H(2) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTTTTGTGCCGTTAGCCACAA 0.363 EPDR1 54749 broad.mit.edu 37 7 37989842 37989842 + Silent SNP T T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:37989842T>C uc003tfp.3 + 2 898 c.879T>C c.(877-879)taT>taC p.Y293Y EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Silent_p.Y112Y NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA. 173 cell-matrix adhesion extracellular region calcium ion binding p.Y293C(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 AGGATTGCTATCCTGTCCAGG 0.388 VSTM2A 222008 broad.mit.edu 37 7 54612435 54612435 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:54612435G>A uc022adk.1 + 1 605 c.200G>A c.(199-201)cGg>cAg p.R67Q VSTM2A_uc010kzf.3_Missense_Mutation_p.R67Q NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA. 67 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) TGGTTCCTGCGGGGGCCGGAG 0.716 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:55233043G>T uc003tqk.3 + 14 2039 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 598 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(31)|p.A597T(1)|p.A597P(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:55233091G>A uc003tqk.3 + 14 2087 c.1841G>A c.(1840-1842)gGc>gAc p.G614D EGFR_uc003tqi.3_Missense_Mutation_p.G614D|EGFR_uc003tqj.3_Missense_Mutation_p.G614D|EGFR_uc022adm.1_Missense_Mutation_p.G614D|EGFR_uc010kzg.2_Missense_Mutation_p.G569D|EGFR_uc022adn.1_Missense_Mutation_p.G569D|EGFR_uc011kco.2_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 614 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 NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:86548556G>T uc011kha.2 - 10 1655 c.1470C>A c.(1468-1470)aaC>aaA p.N490K KIAA1324L_uc003uie.3_Missense_Mutation_p.N323K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.N376K|KIAA1324L_uc003uif.2_Missense_Mutation_p.N242K NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 490 integral to membrane p.L489L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGATATGCAAGTTTAAGATCA 0.373 FAM200A 221786 broad.mit.edu 37 7 99145995 99145995 + Silent SNP A A C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:99145995A>C uc003ura.3 - 1 416 c.36T>G c.(34-36)tcT>tcG p.S12S FAM200A_uc003urb.3_Silent_p.S12S|FAM200A_uc022aia.1_Silent_p.S12S NM_145111 NP_659802 Q8TCP9 F200A_HUMAN Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA. 12 integral to membrane nucleic acid binding endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1) 11 TACCCCCTGGAGACAAATCTG 0.453 FBXO24 26261 broad.mit.edu 37 7 100197689 100197689 + Silent SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:100197689C>T uc011kjz.1 + 8 1424 c.1356C>T c.(1354-1356)tgC>tgT p.C452C FBXO24_uc003uvm.1_Silent_p.C414C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.C402C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 414 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 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 G T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:138314843G>T uc011kqh.2 - 8 814 c.814C>A c.(814-816)Cta>Ata p.L272I SVOPL_uc003vue.3_Missense_Mutation_p.L120I NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 272 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GCATCCAATAGGTCTGCAAAT 0.393 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + Silent SNP T T C rs140267598 by1000genomes TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:142481789T>C uc011ksq.2 + 3 551 c.468T>C c.(466-468)gaT>gaC p.D156D TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. ACTACCCAGATGAGCTGCAGT 0.488 NOS3 4846 broad.mit.edu 37 7 150699051 150699051 + Missense_Mutation SNP C C T rs142781987 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr7:150699051C>T uc003wif.3 + 12 1941 c.1645C>T c.(1645-1647)Cgg>Tgg p.R549W NOS3_uc011kuy.2_Missense_Mutation_p.R343W|NOS3_uc011kva.2_Missense_Mutation_p.R549W|NOS3_uc011kuz.2_Missense_Mutation_p.R549W|NOS3_uc011kvb.2_Missense_Mutation_p.R549W NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 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 NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:11643604G>A uc003wug.2 + 4 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_001129219 Q969S2 NEIL2_HUMAN Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA. 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 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TGGCTGCAGGGCAAGTTCCAA 0.607 Base excision repair (BER), DNA glycosylases DOCK5 80005 broad.mit.edu 37 8 25191663 25191663 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:25191663G>A uc003xeg.3 + 20 2280 c.2143G>A c.(2143-2145)Gta>Ata p.V715I DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.3_Missense_Mutation_p.V285I|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 715 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTTTAATCCTGTACTTGAAAC 0.368 TEX15 56154 broad.mit.edu 37 8 30700748 30700748 + Missense_Mutation SNP T T C TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:30700748T>C uc003xil.3 - 0 5786 c.5786A>G c.(5785-5787)cAg>cGg p.Q1929R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1929 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:53025895G>A uc003xqz.2 - 20 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 Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 1003 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCACTGATAGGTCCCTAAATG 0.463 CPA6 57094 broad.mit.edu 37 8 68334862 68334862 + Silent SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:68334862G>A uc003xxq.4 - 10 1447 c.1191C>T c.(1189-1191)ttC>ttT p.F397F CPA6_uc003xxr.4_Silent_p.F153F NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 397 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 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 G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:75171694G>A uc003yae.3 - 2 1224 c.1184C>T c.(1183-1185)gCg>gTg p.A395V JPH1_uc003yaf.3_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 395 Ala-rich. 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 p.A395T(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 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 C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:95412584C>T uc003ygk.3 - 6 1183 c.1052G>A c.(1051-1053)gGc>gAc p.G351D RAD54B_uc010may.2_Missense_Mutation_p.G167D|RAD54B_uc003ygl.2_Non-coding_Transcript NM_012415 NP_001192192 O95073 FSBP_HUMAN Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA. 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 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 C G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr8:116616647C>G uc003yny.3 - 3 2127 c.1549G>C c.(1549-1551)Ggg>Cgg p.G517R TRPS1_uc011lhy.2_Missense_Mutation_p.G508R|TRPS1_uc003ynz.3_Missense_Mutation_p.G504R|TRPS1_uc010mcy.3_Missense_Mutation_p.G504R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 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 autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 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 rs111465355 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr9:22447335_22447336insA uc003zpp.1 + 0 496_497 c.271_272insA c.(271-273)tacfs p.Y91fs NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN Homo sapiens DMRT-like family A1 (DMRTA1), mRNA. 91 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 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 0.762 VAV2 7410 broad.mit.edu 37 9 136653541 136653541 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chr9:136653541C>T uc004ces.3 - 14 1388 c.1342G>A c.(1342-1344)Gag>Aag p.E448K VAV2_uc004cer.3_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 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 breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 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 C T rs148259441 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:11316747C>T uc004cus.3 + 5 334 c.266C>T c.(265-267)cCg>cTg p.P89L ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75L|AMELX_uc004cuu.3_Missense_Mutation_p.P59L NM_182680 NP_872621 Q99217 AMELX_HUMAN Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA. 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 p.P89T(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CAGCACCCCCCGACTCACACC 0.602 ZCCHC16 340595 broad.mit.edu 37 X 111698312 111698312 + Missense_Mutation SNP G G C rs149089921 TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:111698312G>C uc022cct.1 + 0 356 c.356G>C c.(355-357)aGt>aCt p.S119T ZCCHC16_uc004epo.1_Missense_Mutation_p.S119T NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA. 119 nucleic acid binding|zinc ion binding p.S119T(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCTGACAAGAGTACCTTACTG 0.383 DCAF12L2 340578 broad.mit.edu 37 X 125299765 125299765 + Missense_Mutation SNP C C T TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:125299765C>T uc004euk.2 - 0 316 c.143G>A c.(142-144)cGt>cAt p.R48H NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 48 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CAGCCTGCGACGCGTCGCCGG 0.731 AFF2 2334 broad.mit.edu 37 X 147967460 147967460 + Missense_Mutation SNP A A G TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrX:147967460A>G uc004fcp.3 + 7 1783 c.1304A>G c.(1303-1305)gAc>gGc p.D435G AFF2_uc004fco.3_Missense_Mutation_p.D396G|AFF2_uc004fcq.3_Missense_Mutation_p.D425G|AFF2_uc004fcr.3_Missense_Mutation_p.D396G|AFF2_uc011mxb.2_Missense_Mutation_p.D400G|AFF2_uc004fcs.3_Missense_Mutation_p.D402G|AFF2_uc011mxc.2_Missense_Mutation_p.D76G NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 435 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GATGAAGATGACCTTGAGCCT 0.483 TGIF2LY 90655 broad.mit.edu 37 Y 3447632 3447632 + Missense_Mutation SNP G G A TCGA-06-0174-01A-01D-1491-08 TCGA-06-0174-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 017c9167-0354-41e4-ad50-fb38fcb5668c aa54fbd5-8afc-454e-a9af-9f0d59e12853 g.chrY:3447632G>A uc004fqk.3 + 1 411 c.347G>A c.(346-348)cGt>cAt p.R116H TGIF2LY_uc022ciw.1_Missense_Mutation_p.R116H NM_139214 NP_631960 Q8IUE0 TF2LY_HUMAN Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA. 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|upper_aerodigestive_tract(1) 2 CTTCAACAGCGTAGAAACGAC 0.527