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 GALE 2582 broad.mit.edu 37 1 24123528 24123528 + Missense_Mutation SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr1:24123528G>A uc009vqo.1 - 6 848 c.638C>T c.(637-639)TCC>TTC p.S213F GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhw.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc009vqp.1_Missense_Mutation_p.S213F|GALE_uc001bhy.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F|GALE_uc001bia.2_Missense_Mutation_p.S5F NM_001127621 NP_001121093 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 213 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CCTTACCTGGGAGACATAAGG 0.587 MFSD2A 84879 broad.mit.edu 37 1 40431623 40431623 + Silent SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr1:40431623T>C uc001cev.2 + 6 871 c.690T>C c.(688-690)AAT>AAC p.N230N MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.2_Silent_p.N217N|MFSD2A_uc010ojc.1_Silent_p.N61N|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 230 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 AGGACCTCAATAGCTCTACAG 0.572 CYP4Z1 199974 broad.mit.edu 37 1 47583502 47583502 + Missense_Mutation SNP C T T rs145758676 TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr1:47583502C>T uc001cqu.1 + 12 1417 c.1414C>T c.(1414-1416)CGC>TGC p.R472C NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 472 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 AACTCTGCTCCGCTTCAAGCT 0.468 ITGA10 8515 broad.mit.edu 37 1 145534987 145534988 + Frame_Shift_Ins INS - G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr1:145534987_145534988insG uc001eoa.2 + 15 1966_1967 c.1890_1891insG c.(1888-1893)GCTGTGfs p.A630fs NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.A499fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.A487fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.A575fs NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 630_631 Extracellular (Potential).|FG-GAP 7. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCGATGTGGCTGTGGGTGCCCA 0.490 ERCC6 2074 broad.mit.edu 37 10 50690803 50690803 + Missense_Mutation SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr10:50690803A>G uc001jhs.3 - 10 2253 c.2099T>C c.(2098-2100)TTG>TCG p.L700S ERCC6_uc010qgr.1_Missense_Mutation_p.L70S|ERCC6_uc001jhr.3_Missense_Mutation_p.L100S NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 700 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AAACACAGGCAACGTGCCTAA 0.483 Direct_reversal_of_damage|NER NOC3L 64318 broad.mit.edu 37 10 96099659 96099659 + Missense_Mutation SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr10:96099659A>G uc001kjq.1 - 17 1887 c.1799T>C c.(1798-1800)GTT>GCT p.V600A NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 600 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TACAATCTCAACACCTTCATT 0.433 OR4A16 81327 broad.mit.edu 37 11 55111268 55111268 + Missense_Mutation SNP G T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:55111268G>T uc010rie.1 + 1 592 c.592G>T c.(592-594)GTT>TTT p.V198F NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 ACTCACTGTGGTTGCCAATGG 0.428 OR5I1 10798 broad.mit.edu 37 11 55703585 55703585 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:55703585C>A uc010ris.1 - 1 292 c.292G>T c.(292-294)GGG>TGG p.G98W NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGGGCACACCCATAATAGGAA 0.428 OR8K3 219473 broad.mit.edu 37 11 56085869 56085869 + Silent SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:56085869A>G uc010rjf.1 + 1 87 c.87A>G c.(85-87)GCA>GCG p.A29A NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CATTATTTGCATTGTTCCTCA 0.433 C11orf2 738 broad.mit.edu 37 11 64876151 64876151 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:64876151C>T uc001ocr.1 + 5 1248 c.1208C>T c.(1207-1209)GCC>GTC p.A403V C11orf2_uc001ocs.1_Missense_Mutation_p.A279V NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 403 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GAACGAGTGGCCCGCGAGCGC 0.761 OR8D4 338662 broad.mit.edu 37 11 123777373 123777373 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:123777373C>A uc010saa.1 + 1 235 c.235C>A c.(235-237)CCT>ACT p.P79T NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGTCATTACCCCTAAAATGCT 0.358 VSIG2 23584 broad.mit.edu 37 11 124618351 124618351 + Silent SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr11:124618351G>A uc001qas.2 - 6 862 c.786C>T c.(784-786)TGC>TGT p.C262C VSIG2_uc001qat.2_Silent_p.C262C NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 262 Helical; (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) ACCTGACCAGGCAGAACGCAG 0.617 CD163L1 283316 broad.mit.edu 37 12 7527492 7527492 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr12:7527492C>A uc001qsy.2 - 12 3055 c.3029G>T c.(3028-3030)TGC>TTC p.C1010F CD163L1_uc010sge.1_Missense_Mutation_p.C1020F NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1010 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ATTTGCGAGGCATGGAAACAG 0.463 OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SFRS2IP 9169 broad.mit.edu 37 12 46357935 46357935 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr12:46357935C>T uc001rox.2 - 2 303 c.16G>A c.(16-18)GTA>ATA p.V6I SFRS2IP_uc001roy.1_Missense_Mutation_p.V70I|SFRS2IP_uc009zki.1_RNA|SFRS2IP_uc001roz.2_Missense_Mutation_p.V6I NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 6 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) AGGGTACATACAGTTTTCTTC 0.279 GRIP1 23426 broad.mit.edu 37 12 66773075 66773075 + Missense_Mutation SNP C T T rs145115262 by1000genomes TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr12:66773075C>T uc001stk.2 - 19 2691 c.2450G>A c.(2449-2451)CGG>CAG p.R817Q GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.2_Missense_Mutation_p.R599Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q|GRIP1_uc001stm.2_Missense_Mutation_p.R817Q NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 869 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGCTGTGGACCGGTCCCAGTC 0.517 LRRC43 254050 broad.mit.edu 37 12 122672375 122672375 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr12:122672375C>T uc009zxm.2 + 4 675 c.650C>T c.(649-651)ACC>ATC p.T217I LRRC43_uc001ubw.3_Missense_Mutation_p.T32I|LRRC43_uc009zxn.2_5'Flank|LRRC43_uc009zxl.1_RNA NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 217 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CTCTACGTCACCGCTAATCAC 0.562 NBEA 26960 broad.mit.edu 37 13 35685025 35685025 + Missense_Mutation SNP G C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr13:35685025G>C uc001uvb.2 + 14 2118 c.1912G>C c.(1912-1914)GGA>CGA p.G638R NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 638 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACGCAGAGTAGGAACAGTATT 0.368 IRS2 8660 broad.mit.edu 37 13 110434967 110434968 + Frame_Shift_Ins INS - G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr13:110434967_110434968insG uc001vqv.2 - 1 3947_3948 c.3433_3434insC c.(3433-3435)CGCfs p.R1145fs NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1145 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) ACTGTGGCGGCGGCGGCCCCCC 0.723 OR4K2 390431 broad.mit.edu 37 14 20344857 20344857 + Missense_Mutation SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr14:20344857T>C uc001vwh.1 + 1 431 c.431T>C c.(430-432)CTC>CCC p.L144P NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGTTGCTCTCGTGGTGGCT 0.463 PCNX 22990 broad.mit.edu 37 14 71540387 71540387 + Nonsense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr14:71540387C>T uc001xmo.2 + 27 5424 c.4978C>T c.(4978-4980)CGA>TGA p.R1660* PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448* NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1660 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATTTAGCCAGCGATGGCTAGC 0.438 EML5 161436 broad.mit.edu 37 14 89168805 89168805 + Silent SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr14:89168805G>A uc001xxg.2 - 15 2409 c.2223C>T c.(2221-2223)TAC>TAT p.Y741Y EML5_uc001xxh.1_Translation_Start_Site NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 741 WD 11. cytoplasm|microtubule ovary(3) 3 CTGTTGCCACGTAGTCTTTCA 0.368 AQR 9716 broad.mit.edu 37 15 35168164 35168164 + Missense_Mutation SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr15:35168164A>G uc001ziv.2 - 28 3390 c.3209T>C c.(3208-3210)ATA>ACA p.I1070T NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1070 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAAAGTTTCTATCTCCAGAAT 0.358 AQR 9716 broad.mit.edu 37 15 35168175 35168175 + Silent SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr15:35168175C>T uc001ziv.2 - 28 3379 c.3198G>A c.(3196-3198)CAG>CAA p.Q1066Q NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1066 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCTCCAGAATCTGAGCAGCCT 0.353 NOX5 79400 broad.mit.edu 37 15 69324094 69324094 + Nonsense_Mutation SNP G T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr15:69324094G>T uc002ars.1 + 4 582 c.562G>T c.(562-564)GAG>TAG p.E188* NOX5_uc002arp.1_Nonsense_Mutation_p.E170*|NOX5_uc002arq.1_Nonsense_Mutation_p.E142*|NOX5_uc010bid.1_Nonsense_Mutation_p.E153*|NOX5_uc002arr.1_Nonsense_Mutation_p.E160*|NOX5_uc010bie.1_5'UTR|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 188 Cytoplasmic (Potential).|4 (Potential).|EF-hand 4. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CATCACCTTCGAGGAGCTCCG 0.677 Unknown 0 broad.mit.edu 37 15 102292797 102292797 + Missense_Mutation SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr15:102292797C>G uc010usj.1 + 4 444 c.385C>G c.(385-387)CCA>GCA p.P129A uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; GAGCTGCTGTCCAACCTGCAC 0.597 PAPD5 64282 broad.mit.edu 37 16 50263117 50263117 + Missense_Mutation SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr16:50263117C>G uc010vgo.1 + 13 2010 c.1975C>G c.(1975-1977)CAA>GAA p.Q659E PAPD5_uc010cbi.2_Intron|PAPD5_uc002efz.2_Missense_Mutation_p.Q403E|PAPD5_uc002ega.2_Missense_Mutation_p.Q450E NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 533 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) AGGTACAACTCAAACAAGCCA 0.433 INPP5K 51763 broad.mit.edu 37 17 1419767 1419767 + Silent SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr17:1419767C>G uc002fsr.2 - 1 416 c.27G>C c.(25-27)CCG>CCC p.P9P INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_5'UTR|INPP5K_uc010vqm.1_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P NM_016532 NP_057616 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K isoform 9 actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding 0 TCCTGCCTTTCGGCCCGCTCA 0.756 PHF12 57649 broad.mit.edu 37 17 27233967 27233967 + Missense_Mutation SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr17:27233967T>C uc002hdg.1 - 14 3117 c.2587A>G c.(2587-2589)ACG>GCG p.T863A PHF12_uc010wbb.1_Missense_Mutation_p.T845A NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 863 FHA. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TTGTCCACCGTTGTCCCATGC 0.507 DSG3 1830 broad.mit.edu 37 18 29052357 29052357 + Missense_Mutation SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr18:29052357G>A uc002kws.2 + 13 2117 c.2008G>A c.(2008-2010)GGA>AGA p.G670R DSG3_uc002kwt.2_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 670 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCATCAGTGGGGAATTGAAGG 0.428 S1PR4 8698 broad.mit.edu 37 19 3179828 3179828 + Silent SNP C T T rs147906636 byFrequency TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr19:3179828C>T uc002lxg.2 + 1 1063 c.1038C>T c.(1036-1038)TCC>TCT p.S346S NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 346 Cytoplasmic (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 AGGCTCACTCCGGAGCTTCCA 0.687 TYK2 7297 broad.mit.edu 37 19 10463654 10463654 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr19:10463654C>T uc002moc.3 - 22 3526 c.3148G>A c.(3148-3150)GAA>AAA p.E1050K TYK2_uc010dxe.2_Missense_Mutation_p.E865K NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 1050 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TCGTGGCCTTCGGGCACGGCC 0.652 ZNF540 163255 broad.mit.edu 37 19 38103690 38103690 + Silent SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr19:38103690C>T uc002ogq.2 + 5 1841 c.1509C>T c.(1507-1509)ACC>ACT p.T503T ZNF540_uc002ogu.2_Silent_p.T503T|ZNF540_uc010efq.2_Silent_p.T471T NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 503 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGGGAAGACCTTTAGATTTG 0.393 CD33 945 broad.mit.edu 37 19 51728575 51728575 + Missense_Mutation SNP A T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr19:51728575A>T uc002pwa.2 + 2 179 c.139A>T c.(139-141)ATA>TTA p.I47L CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 47 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CTTCCATCCCATACCCTACTA 0.532 ROCK2 9475 broad.mit.edu 37 2 11332301 11332301 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:11332301C>T uc002rbd.1 - 32 4585 c.4136G>A c.(4135-4137)AGT>AAT p.S1379N NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 1379 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AAGCTGTCGACTTGGCCGTCT 0.368 ITSN2 50618 broad.mit.edu 37 2 24526701 24526701 + Missense_Mutation SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:24526701G>A uc002rfe.2 - 9 1082 c.824C>T c.(823-825)TCA>TTA p.S275L ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.2_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 275 EH 2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAAAGATTTGACTGAAGAAG 0.318 EIF2AK2 5610 broad.mit.edu 37 2 37376027 37376027 + Translation_Start_Site SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:37376027C>T uc010ynh.1 - 2 514 c.-43G>A c.(-45--41)GCGTG>GCATG EIF2AK2_uc010fab.1_5'Flank|EIF2AK2_uc010yng.1_5'Flank|EIF2AK2_uc010fac.2_Translation_Start_Site|EIF2AK2_uc010fad.2_Translation_Start_Site NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) CCAAAATGCACGCAGATAATC 0.433 ZNF638 27332 broad.mit.edu 37 2 71577393 71577393 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:71577393C>A uc002shx.2 + 2 1628 c.1309C>A c.(1309-1311)CAT>AAT p.H437N ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.H437N|ZNF638_uc002shy.2_Missense_Mutation_p.H437N|ZNF638_uc002shz.2_Missense_Mutation_p.H437N|ZNF638_uc002sia.2_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 437 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AGAATGTAGTCATTTGAAGGT 0.358 ADRA2B 151 broad.mit.edu 37 2 96781837 96781837 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:96781837C>T uc002svi.2 - 1 52 c.52G>A c.(52-54)GCC>ACC p.A18T NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 18 Helical; Name=1; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) AAGGTGATGGCCGCCGCTATG 0.662 WIPF1 7456 broad.mit.edu 37 2 175432647 175432647 + Silent SNP A C C rs34236584 TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr2:175432647A>C uc002uiy.2 - 7 1616 c.1284T>G c.(1282-1284)CCT>CCG p.P428P uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002uiz.2_Silent_p.P428P|WIPF1_uc002ujb.1_Silent_p.P428P NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 428 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GAGGTGGGGGAGGTGCCCCAG 0.587 FAM113A 64773 broad.mit.edu 37 20 2819125 2819125 + Splice_Site DEL C - - TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr20:2819125delC uc002wgz.1 - 6 1092 c.595_splice c.e6-1 p.L199_splice FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Intron|FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 hydrolase activity|protein binding ovary(2) 2 GGGGCTGGAGCTAAGTGAGAA 0.572 ISM1 140862 broad.mit.edu 37 20 13260546 13260546 + Splice_Site SNP G T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr20:13260546G>T uc010gce.1 + 3 649 c.643_splice c.e3+1 p.D215_splice TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor extracellular region 0 CCAGAATATGGTGAGTTTACC 0.498 CSTF1 1477 broad.mit.edu 37 20 54974411 54974411 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr20:54974411C>T uc002xxl.1 + 5 1234 c.1034C>T c.(1033-1035)ACG>ATG p.T345M CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M|CSTF1_uc002xxo.1_Missense_Mutation_p.T288M NM_001033521 NP_001028693 Q05048 CSTF1_HUMAN cleavage stimulation factor subunit 1 345 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(1) 1 Colorectal(105;0.202) GTCAGATACACGGGTATGTGA 0.244 CXADR 1525 broad.mit.edu 37 21 18933791 18933791 + Missense_Mutation SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr21:18933791T>C uc002yki.2 + 6 948 c.830T>C c.(829-831)ATC>ACC p.I277T CXADR_uc002ykh.1_Intron|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Missense_Mutation_p.I250T NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 277 Cytoplasmic (Potential). blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity ovary(1) 1 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CATCACGATATCAGGTAATTA 0.363 KIF15 56992 broad.mit.edu 37 3 44882590 44882590 + Missense_Mutation SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr3:44882590C>G uc003cnx.3 + 29 3594 c.3445C>G c.(3445-3447)CAA>GAA p.Q1149E KIF15_uc010hiq.2_Missense_Mutation_p.Q1052E|KIF15_uc010hir.2_Missense_Mutation_p.Q197E NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1149 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ACCTCACTTTCAAACACATTT 0.333 SETD2 29072 broad.mit.edu 37 3 47147485 47147485 + Splice_Site SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr3:47147485A>G uc003cqs.2 - 6 4892 c.4839_splice c.e6+1 p.E1613_splice SETD2_uc003cqv.2_Splice_Site_p.E1602_splice NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CAAGCTGCTTACCTCATCATT 0.338 N|F|S|Mis clear cell renal carcinoma UQCRC1 7384 broad.mit.edu 37 3 48641675 48641675 + Missense_Mutation SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr3:48641675T>C uc003cub.1 - 5 662 c.617A>G c.(616-618)GAG>GGG p.E206G UQCRC1_uc003cua.1_Missense_Mutation_p.E91G|UQCRC1_uc003cuc.1_Missense_Mutation_p.E206G|UQCRC1_uc003cud.1_Missense_Mutation_p.E206G NM_003365 NP_003356 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 206 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CCTGACATTCTCACTGGGCCC 0.552 MECOM 2122 broad.mit.edu 37 3 168810761 168810761 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr3:168810761C>T uc003ffi.3 - 13 2854 c.2585G>A c.(2584-2586)AGG>AAG p.R862K MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpj.1_Missense_Mutation_p.R1050K|MECOM_uc011bpk.1_Missense_Mutation_p.R852K NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 862 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CTCCACATTCCTGGGAGATTG 0.403 SAMD7 344658 broad.mit.edu 37 3 169656173 169656173 + Missense_Mutation SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr3:169656173A>G uc003fgd.2 + 9 1487 c.1220A>G c.(1219-1221)GAT>GGT p.D407G SAMD7_uc003fge.2_Missense_Mutation_p.D407G|SAMD7_uc011bpo.1_Missense_Mutation_p.D308G NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 407 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAAGCATTTGATCAACCAGCA 0.348 PDGFRA 5156 broad.mit.edu 37 4 55133888 55133899 + In_Frame_Del DEL GGAAAAGATTCA - - TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:55133888_55133899delGGAAAAGATTCA uc003han.3 + 7 1432_1443 c.1101_1112delGGAAAAGATTCA c.(1099-1113)GTGGAAAAGATTCAG>GTG p.EKIQ368del PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 368_371 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCACTGATGTGGAAAAGATTCAGGAAATAAGG 0.448 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) ENAM 10117 broad.mit.edu 37 4 71509712 71509712 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:71509712C>A uc011caw.1 + 9 2850 c.2569C>A c.(2569-2571)CCA>ACA p.P857T NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 857 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) ACCAAGTTACCCATCAGGTCA 0.448 PTPN13 5783 broad.mit.edu 37 4 87728883 87728883 + Missense_Mutation SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:87728883G>A uc003hpz.2 + 45 7396 c.6916G>A c.(6916-6918)GCC>ACC p.A2306T PTPN13_uc003hpy.2_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.2_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.2_Missense_Mutation_p.A2115T NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2306 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CACAGTGATAGCCATGATGAC 0.453 ADH1A 124 broad.mit.edu 37 4 100205753 100205753 + Missense_Mutation SNP G T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:100205753G>T uc003hur.1 - 5 441 c.370C>A c.(370-372)CTG>ATG p.L124M uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.L124M|ADH1A_uc010ilf.1_Translation_Start_Site NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 124 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCATCCTGCAGGGTCCCCTGA 0.517 PRMT10 90826 broad.mit.edu 37 4 148589774 148589774 + Missense_Mutation SNP C A A rs147339843 byFrequency TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:148589774C>A uc003ilc.2 - 6 1011 c.869G>T c.(868-870)TGT>TTT p.C290F PRMT10_uc003ild.2_Missense_Mutation_p.C177F NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 290 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 ATACTTTTCACAATTAGCACT 0.299 FGA 2243 broad.mit.edu 37 4 155508053 155508053 + Missense_Mutation SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr4:155508053C>G uc003iod.1 - 5 586 c.528G>C c.(526-528)AAG>AAC p.K176N FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 176 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AAGATCGGATCTTAATATCAA 0.393 NIPBL 25836 broad.mit.edu 37 5 37064969 37064969 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr5:37064969C>T uc003jkl.3 + 47 8889 c.8390C>T c.(8389-8391)GCC>GTC p.A2797V NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2797 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCCCTGTATGCCGCCAAGGAT 0.358 PCDHA7 56141 broad.mit.edu 37 5 140215867 140215867 + Silent SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr5:140215867G>A uc003lhq.2 + 1 1899 c.1899G>A c.(1897-1899)ACG>ACA p.T633T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.T633T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 633 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATCAGCACGACACGAGCCC 0.647 TRIM15 89870 broad.mit.edu 37 6 30131441 30131441 + Translation_Start_Site SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr6:30131441C>T uc010jrx.2 + 1 459 c.-20C>T c.(-22--18)GACGG>GATGG TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 mesodermal cell fate determination intracellular zinc ion binding 0 CCGGAGTGGACGGGCTGGGGA 0.602 HSPA1L 3305 broad.mit.edu 37 6 31778907 31778907 + Missense_Mutation SNP C A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr6:31778907C>A uc003nxh.2 - 2 1026 c.843G>T c.(841-843)CAG>CAT p.Q281H HSPA1L_uc010jte.2_Missense_Mutation_p.Q281H NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 281 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 CTAGGTTGGCCTGGGTGCTGG 0.522 PKHD1 5314 broad.mit.edu 37 6 51484145 51484145 + Missense_Mutation SNP G C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr6:51484145G>C uc003pah.1 - 67 12235 c.11959C>G c.(11959-11961)CCT>GCT p.P3987A NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3987 Cytoplasmic (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGCTGAGCAGGAGCACCTGGA 0.572 MTHFD1L 25902 broad.mit.edu 37 6 151281413 151281413 + Silent SNP G A A rs146093887 by1000genomes TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr6:151281413G>A uc003qob.2 + 18 2074 c.1806G>A c.(1804-1806)GCG>GCA p.A602A MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.A603A|MTHFD1L_uc003qoc.2_Silent_p.A550A NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 602 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TGGTTCAGGCGCAGTTTGACA 0.612 PCLO 27445 broad.mit.edu 37 7 82785272 82785272 + Missense_Mutation SNP G T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr7:82785272G>T uc003uhx.2 - 2 974 c.685C>A c.(685-687)CCG>ACG p.P229T PCLO_uc003uhv.2_Missense_Mutation_p.P229T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 229 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGCTGAAGCGGATCCCTACCA 0.463 TFPI2 7980 broad.mit.edu 37 7 93519537 93519537 + Silent SNP G A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr7:93519537G>A uc003umy.1 - 2 258 c.183C>T c.(181-183)TGC>TGT p.C61C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C|TFPI2_uc003unb.1_Silent_p.C61C|TFPI2_uc010lfg.1_Intron NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 61 BPTI/Kunitz inhibitor 1. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GGAACTGGCGGCAGCTCTGCG 0.577 MOGAT3 346606 broad.mit.edu 37 7 100841600 100841600 + Silent SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr7:100841600C>T uc003uyc.2 - 5 707 c.540G>A c.(538-540)CAG>CAA p.Q180Q MOGAT3_uc010lhr.2_Silent_p.Q180Q NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 180 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CGAGCTGGGGCTGGGACAGGA 0.657 EIF3IP1 442720 broad.mit.edu 37 7 109600160 109600160 + Translation_Start_Site SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr7:109600160C>T uc003vfp.1 - 1 111 c.-62G>A c.(-64--60)CCGTG>CCATG NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 TCCTTGGCCACGGTGAAGAGG 0.512 KCNU1 157855 broad.mit.edu 37 8 36661576 36661576 + Missense_Mutation SNP C G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr8:36661576C>G uc010lvw.2 + 3 434 c.347C>G c.(346-348)TCT>TGT p.S116C KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 116 Helical; Name=Segment S1; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AGCATTGGGTCTCTTATAATC 0.358 SNX16 64089 broad.mit.edu 37 8 82714627 82714627 + Missense_Mutation SNP T A A TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr8:82714627T>A uc011lft.1 - 8 1433 c.926A>T c.(925-927)GAT>GTT p.D309V SNX16_uc003ycn.2_Missense_Mutation_p.D309V|SNX16_uc003yco.2_Missense_Mutation_p.D280V NM_022133 NP_071416 P57768 SNX16_HUMAN sorting nexin 16 isoform a 309 LDEE -> WMR (in Ref. 1; AAG25676). cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding ovary(1)|pancreas(1) 2 AGATTCTTCATCCAGGACATC 0.343 TAF1L 138474 broad.mit.edu 37 9 32635178 32635178 + Missense_Mutation SNP A G G TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr9:32635178A>G uc003zrg.1 - 1 490 c.400T>C c.(400-402)TAC>CAC p.Y134H uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 134 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCGAGTGGTAAAGGGGCTGC 0.478 PIGO 84720 broad.mit.edu 37 9 35090223 35090223 + Missense_Mutation SNP C T T TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr9:35090223C>T uc003zwd.2 - 9 3305 c.2909G>A c.(2908-2910)CGG>CAG p.R970Q PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.R553Q|PIGO_uc003zwf.2_Missense_Mutation_p.R553Q|PIGO_uc003zwg.1_3'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 970 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTGTCTCTTCCGCAGCCCTTG 0.607 NR4A3 8013 broad.mit.edu 37 9 102590645 102590645 + Silent SNP T C C TCGA-26-5134-01A-01D-1486-08 TCGA-26-5134-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 11956d98-4ba5-486f-ae79-05aacebe0631 7a2da706-da57-4677-8c2f-ef27469a04de g.chr9:102590645T>C uc004baf.1 + 3 1050 c.321T>C c.(319-321)CAT>CAC p.H107H NR4A3_uc004bae.2_Silent_p.H107H|NR4A3_uc004bag.1_Silent_p.H107H|NR4A3_uc004bai.2_Silent_p.H118H NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 107 Poly-His. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) accaccaccatcaccaGCAGC 0.493 T EWSR1 extraskeletal myxoid chondrosarcoma