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 RNF207 388591 broad.mit.edu 37 1 6271141 6271141 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:6271141C>T uc001amg.2 + 12 1246 c.1072C>T c.(1072-1074)CCA>TCA p.P358S RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 358 intracellular zinc ion binding 0 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GCTGCTGGGGCCACGTCGGGT 0.667 CAMTA1 23261 broad.mit.edu 37 1 7723936 7723936 + Silent SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:7723936C>T uc001aoi.2 + 9 1536 c.1329C>T c.(1327-1329)GCC>GCT p.A443A NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACAAGTTCGCCTTTCCCACCA 0.652 CAMTA1 23261 broad.mit.edu 37 1 7723997 7723997 + Silent SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:7723997C>T uc001aoi.2 + 9 1597 c.1390C>T c.(1390-1392)CTG>TTG p.L464L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTCCGAAGAGCTGGTCCTCTC 0.597 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:38463709G>A uc001ccj.2 - 4 514 c.427C>T c.(427-429)CCC>TCC p.P143S FHL3_uc001cck.2_Missense_Mutation_p.P143S|FHL3_uc001ccl.2_Missense_Mutation_p.P143S|FHL3_uc001ccm.2_Missense_Mutation_p.P35S|FHL3_uc009vvl.1_Missense_Mutation_p.P143S NM_004468 NP_004459 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622 PSMA5 5686 broad.mit.edu 37 1 109964523 109964523 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:109964523C>T uc001dxn.2 - 2 140 c.55G>A c.(55-57)GGA>AGA p.G19R PSMA5_uc010ovj.1_Intron NM_002790 NP_002781 P28066 PSA5_HUMAN proteasome alpha 5 subunit 19 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity 0 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) AATAATCTTCCTTCGGGAGAA 0.348 SPAG17 200162 broad.mit.edu 37 1 118640437 118640437 + Missense_Mutation SNP T C C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:118640437T>C uc001ehk.2 - 7 935 c.867A>G c.(865-867)ATA>ATG p.I289M NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 289 Potential. cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAAGCTCTTTTATGGCATTTT 0.333 NBPF10 100132406 broad.mit.edu 37 1 145325997 145325997 + Silent SNP A G G TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:145325997A>G uc001end.3 + 32 4130 c.4095A>G c.(4093-4095)CAA>CAG p.Q1365Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 1290 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAGTCTTGCAAGACTCACTGG 0.468 LOC728989 728989 broad.mit.edu 37 1 146494537 146494537 + Silent SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:146494537C>T uc001epd.2 - 4 536 c.462G>A c.(460-462)GCG>GCA p.A154A NR_024442 SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA; 0 TTGGCAGGGCCGCTCTCCAGA 0.567 FCRLA 84824 broad.mit.edu 37 1 161682911 161682911 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:161682911C>T uc001gbe.2 + 6 1132 c.890C>T c.(889-891)CCA>CTA p.P297L FCRLA_uc001gbd.2_Missense_Mutation_p.P291L|FCRLA_uc001gbf.2_Missense_Mutation_p.P202L|FCRLA_uc001gbg.2_Missense_Mutation_p.P151L|FCRLA_uc009wuo.2_Missense_Mutation_p.P157L|FCRLA_uc009wup.2_Missense_Mutation_p.P107L|FCRLA_uc009wuq.2_Missense_Mutation_p.P56L NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 274 Pro-rich. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACATTGAATCCAGCTCCTCAG 0.582 CACNA1S 779 broad.mit.edu 37 1 201012596 201012596 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr1:201012596C>T uc001gvv.2 - 40 5088 c.4861G>A c.(4861-4863)GTC>ATC p.V1621I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1621 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTGGCCATGACGGGGGGCAGG 0.567 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ABCG4 64137 broad.mit.edu 37 11 119031668 119031668 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr11:119031668C>T uc001pvs.2 + 15 2129 c.1793C>T c.(1792-1794)CCG>CTG p.P598L ABCG4_uc009zar.2_Missense_Mutation_p.P598L NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 598 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAACGCTGCCCGTTCCGGGAG 0.567 TSPAN9 10867 broad.mit.edu 37 12 3387673 3387673 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr12:3387673G>A uc001qlp.2 + 4 297 c.150G>A c.(148-150)TCG>TCA p.S50S NM_006675 NP_006666 O75954 TSN9_HUMAN tetraspanin 9 50 Extracellular (Potential). integral to plasma membrane|membrane fraction ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) GCTTCCCTTCGTTGTCTGCAG 0.597 OR9K2 441639 broad.mit.edu 37 12 55524385 55524385 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr12:55524385G>A uc010spe.1 + 1 833 c.833G>A c.(832-834)GGT>GAT p.G278D NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 278 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 GTGCTGTATGGTGCTGTCTTT 0.443 APOF 319 broad.mit.edu 37 12 56755194 56755194 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr12:56755194C>T uc001sle.1 - 2 850 c.796G>A c.(796-798)GCA>ACA p.A266T NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 266 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 GAGATGTTTGCGTCTTTCTGA 0.493 FOXN4 121643 broad.mit.edu 37 12 109719238 109719238 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr12:109719238G>A uc001toe.3 - 9 1373 c.1268C>T c.(1267-1269)CCG>CTG p.P423L FOXN4_uc009zvg.2_Missense_Mutation_p.P220L|FOXN4_uc001tof.3_Missense_Mutation_p.P243L NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 423 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 CATGATGCTCGGGTCGAGGGC 0.627 SERPINA12 145264 broad.mit.edu 37 14 94953819 94953819 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr14:94953819C>T uc001ydj.2 - 6 1862 c.1066G>A c.(1066-1068)GCT>ACT p.A356T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 356 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) TTCAGCTCAGCCTTGTGCACA 0.597 PEPD 5184 broad.mit.edu 37 19 33892682 33892682 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr19:33892682G>A uc002nur.3 - 12 1047 c.912C>T c.(910-912)GCC>GCT p.A304A PEPD_uc010xrr.1_Silent_p.A263A|PEPD_uc010xrs.1_Silent_p.A240A NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 304 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) CCTCATAGACGGCCTTCTGGT 0.627 NLRP12 91662 broad.mit.edu 37 19 54313742 54313742 + Missense_Mutation SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr19:54313742C>T uc002qch.3 - 3 1391 c.1171G>A c.(1171-1173)GTG>ATG p.V391M NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.V391M|NLRP12_uc002qcj.3_Missense_Mutation_p.V391M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V391M NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 391 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTGTCCCTCACGTAATTGAAG 0.562 YIPF4 84272 broad.mit.edu 37 2 32530586 32530586 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:32530586G>A uc002rok.2 + 6 893 c.626G>A c.(625-627)AGT>AAT p.S209N NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 209 Helical; (Potential). endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) GCTGCCTACAGTGCTGCTTCA 0.323 RAB11FIP5 26056 broad.mit.edu 37 2 73315741 73315741 + Silent SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:73315741C>T uc002siu.3 - 3 1246 c.1005G>A c.(1003-1005)TCG>TCA p.S335S RAB11FIP5_uc002sit.3_Silent_p.S257S NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 335 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 TGACACAGAGCGAAGAGCGGG 0.622 LCT 3938 broad.mit.edu 37 2 136566075 136566075 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:136566075G>A uc002tuu.1 - 8 3853 c.3842C>T c.(3841-3843)CCG>CTG p.P1281L NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1281 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCCGTGTTCGGATTGGTCAG 0.493 MBD5 55777 broad.mit.edu 37 2 149248058 149248058 + Silent SNP C T T TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:149248058C>T uc002twm.3 + 12 5146 c.4158C>T c.(4156-4158)GGC>GGT p.G1386G MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Silent_p.G1386G|MBD5_uc002two.2_Silent_p.G644G|MBD5_uc002twp.2_Silent_p.G436G NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1386 PWWP. chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCAATGTTGGCGACTTGGTCT 0.448 SCN3A 6328 broad.mit.edu 37 2 166019113 166019113 + Missense_Mutation SNP T A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:166019113T>A uc002ucx.2 - 8 1412 c.920A>T c.(919-921)AAT>ATT p.N307I SCN3A_uc002ucy.2_Missense_Mutation_p.N307I|SCN3A_uc002ucz.2_Missense_Mutation_p.N307I|SCN3A_uc002uda.1_Missense_Mutation_p.N176I|SCN3A_uc002udb.1_Missense_Mutation_p.N176I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 307 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CATTGTTACATTAACAAATGT 0.363 SCN9A 6335 broad.mit.edu 37 2 167055670 167055670 + Missense_Mutation SNP C A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:167055670C>A uc010fpl.2 - 27 5787 c.5446G>T c.(5446-5448)GAT>TAT p.D1816Y uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1827 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ATGGGCAGATCCATGGCAATG 0.463 ZSWIM2 151112 broad.mit.edu 37 2 187693302 187693302 + Silent SNP T C C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:187693302T>C uc002upu.1 - 9 1351 c.1311A>G c.(1309-1311)AGA>AGG p.R437R NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 437 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAATTCCAAGTCTATTTTGTT 0.328 ANO7 50636 broad.mit.edu 37 2 242151595 242151595 + Missense_Mutation SNP G A A rs111600763 byFrequency TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr2:242151595G>A uc002wax.2 + 16 1913 c.1810G>A c.(1810-1812)GTC>ATC p.V604I NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 604 Helical; (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CTCCTCACCCGTCTACATTGC 0.562 SLC5A4 6527 broad.mit.edu 37 22 32627012 32627012 + Missense_Mutation SNP C G G TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr22:32627012C>G uc003ami.2 - 10 1074 c.1072G>C c.(1072-1074)GAT>CAT p.D358H NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 358 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CAGCCAACATCAACGCCACAG 0.522 CHL1 10752 broad.mit.edu 37 3 383663 383663 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr3:383663G>A uc003bou.2 + 7 848 c.577G>A c.(577-579)GTG>ATG p.V193M CHL1_uc003bot.2_Missense_Mutation_p.V193M|CHL1_uc003bow.1_Missense_Mutation_p.V193M|CHL1_uc011asi.1_Missense_Mutation_p.V193M NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 193 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTTCGCAAACGTGGAAGAAAA 0.383 ZBTB20 26137 broad.mit.edu 37 3 114069362 114069362 + Frame_Shift_Del DEL G - - TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr3:114069362delG uc003ebi.2 - 4 1743 c.1563delC c.(1561-1563)CCCfs p.P521fs ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P448fs|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGAAAGGCTTGGGGCCACTGC 0.627 SPOCK3 50859 broad.mit.edu 37 4 167656159 167656159 + Silent SNP A G G TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr4:167656159A>G uc003iri.1 - 12 1365 c.1224T>C c.(1222-1224)ATT>ATC p.I408I SPOCK3_uc011cjp.1_Silent_p.I365I|SPOCK3_uc011cjq.1_Silent_p.I417I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cju.1_Silent_p.I301I|SPOCK3_uc011cjv.1_Silent_p.I310I NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 408 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) catcattcataatatcgtctt 0.070 FSTL4 23105 broad.mit.edu 37 5 132556518 132556518 + Silent SNP G A A rs141735817 byFrequency TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr5:132556518G>A uc003kyn.1 - 12 1598 c.1380C>T c.(1378-1380)GAC>GAT p.D460D FSTL4_uc003kym.1_Silent_p.D109D NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 460 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGATGATACCGTCGTCGGAGA 0.547 PCDHA9 9752 broad.mit.edu 37 5 140229589 140229589 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr5:140229589G>A uc003lhu.2 + 1 2233 c.1509G>A c.(1507-1509)TCG>TCA p.S503S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S503S NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCTCGCTGTCGAGCT 0.672 LAMB1 3912 broad.mit.edu 37 7 107591684 107591684 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr7:107591684G>A uc003vew.2 - 24 3713 c.3378C>T c.(3376-3378)GAC>GAT p.D1126D LAMB1_uc003vev.2_Silent_p.D1150D NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1126 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCACTCCACGTCGGGGTCTC 0.572 SGK223 157285 broad.mit.edu 37 8 8175745 8175745 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr8:8175745G>A uc003wsh.3 - 5 4140 c.4140C>T c.(4138-4140)TGC>TGT p.C1380C NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1380 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGTACTGGCAGCAAAGCCAGT 0.642 PIP5K1B 8395 broad.mit.edu 37 9 71555697 71555697 + Missense_Mutation SNP A C C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr9:71555697A>C uc004agu.2 + 14 1798 c.1493A>C c.(1492-1494)TAT>TCT p.Y498S PIP5K1B_uc011lrq.1_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 498 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) CCTACACTCTATTCAAACAGG 0.443 SUSD1 64420 broad.mit.edu 37 9 114840947 114840947 + Missense_Mutation SNP T C C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chr9:114840947T>C uc004bfu.2 - 12 1665 c.1624A>G c.(1624-1626)AAT>GAT p.N542D SUSD1_uc010mui.2_Missense_Mutation_p.N542D|SUSD1_uc010muj.2_Missense_Mutation_p.N542D NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 542 Extracellular (Potential). integral to membrane calcium ion binding 0 CTACTGATATTAAAGGTCATT 0.488 CXorf59 286464 broad.mit.edu 37 X 36103467 36103467 + Silent SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chrX:36103467G>A uc004ddk.1 + 5 639 c.453G>A c.(451-453)TCG>TCA p.S151S NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 151 integral to membrane central_nervous_system(1) 1 CATCAACCTCGCCACCCCAAA 0.333 DCAF12L2 340578 broad.mit.edu 37 X 125299499 125299499 + Missense_Mutation SNP G A A TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chrX:125299499G>A uc004euk.1 - 1 436 c.409C>T c.(409-411)CGG>TGG p.R137W NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 137 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TCCTTGTCCCGCATGAGGGGG 0.642 OR13H1 347468 broad.mit.edu 37 X 130678349 130678349 + Missense_Mutation SNP C T T rs149527425 byFrequency TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 53c2e159-5774-499f-b0d1-e04fa3faf5c3 740f8d17-3563-4a13-8089-509a5989c33d g.chrX:130678349C>T uc011muw.1 + 1 302 c.302C>T c.(301-303)ACG>ATG p.T101M IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) TTGGCTCAAACGAGTGTCTCC 0.517