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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TNFRSF14 8764 broad.mit.edu 37 1 2493144 2493144 + Missense_Mutation SNP G G T rs147648888 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:2493144G>T uc001ajr.2 + 6 883 c.584G>T c.(583-585)GGG>GTG p.G195V TNFRSF14_uc001ajt.1_3'UTR|TNFRSF14_uc001ajs.2_Intron NM_003820 NP_003811 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, 195 Extracellular (Potential). immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GCCGGAGCTGGGACCAGCAGC 0.597 NA Mis|N|F follicular lymphoma 23 50 9.04412e-07 1.26618e-06 0.004656 1 0 RNF207 388591 broad.mit.edu 37 1 6269998 6269998 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:6269998G>A uc001amg.2 + 8 942 c.768G>A c.(766-768)GAG>GAA p.E256E RNF207_uc001amh.2_Missense_Mutation_p.E145K|RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 256 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) GGCTGGCAGAGAGGAAAGCGC 0.662 NA 25 30 0 0 0.005443 0 0 ESPN 83715 broad.mit.edu 37 1 6511766 6511766 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:6511766G>A uc001amy.2 + 9 2187 c.2019G>A c.(2017-2019)GGG>GGA p.G673G ESPN_uc001amz.2_Silent_p.G107G NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 673 Pro-rich. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) AGAGCAAGGGGCTGACCACAG 0.657 NA 7 17 0 0 0.001984 0 0 PADI2 11240 broad.mit.edu 37 1 17413136 17413136 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:17413136C>A uc001baf.2 - 7 796 c.714G>T c.(712-714)GTG>GTT p.V238V PADI2_uc010ocm.1_Missense_Mutation_p.W157L|PADI2_uc001bag.1_Silent_p.V238V NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 238 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TGTACTTGACCACATGGTAGA 0.607 NA 25 18 2.48779e-11 3.93696e-11 0.005443 1 0 UBR4 23352 broad.mit.edu 37 1 19454761 19454761 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:19454761C>A uc001bbi.2 - 62 9059 c.9055G>T c.(9055-9057)GGG>TGG p.G3019W UBR4_uc001bbk.1_Missense_Mutation_p.G666W NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3019 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTAGGGCCCCCTTGTCTTTC 0.433 NA 52 21 5.73376e-24 1.10637e-23 0.00361 1 0 UBR4 23352 broad.mit.edu 37 1 19497254 19497254 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:19497254A>T uc001bbi.2 - 26 3647 c.3643_splice c.e26+1 p.G1215_splice UBR4_uc001bbm.1_Splice_Site_p.G426_splice NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTTCTCTTACCCAGAGTAT 0.418 NA 17 37 0 0 0.004007 0 0 FAM76A 199870 broad.mit.edu 37 1 28087051 28087051 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:28087051A>T uc001boq.2 + 9 985 c.883A>T c.(883-885)AGC>TGC p.S295C FAM76A_uc001bor.2_Missense_Mutation_p.S329C|FAM76A_uc001bos.2_Missense_Mutation_p.S300C|FAM76A_uc001bot.2_Missense_Mutation_p.S266C|FAM76A_uc010ofm.1_Missense_Mutation_p.S215C NM_152660 NP_689873 Q8TAV0 FA76A_HUMAN hypothetical protein LOC199870 isoform 3 295 Potential. 0 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) TTTGTCCAAGAGCAAGAAGTC 0.458 NA 7 12 0 0 0.001984 0 0 GJB4 127534 broad.mit.edu 37 1 35227444 35227444 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:35227444T>C uc001bxv.1 + 2 959 c.589T>C c.(589-591)TGC>CGC p.C197R GJB4_uc001bxw.3_Missense_Mutation_p.C197R NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 197 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGCTGCCATCTGCATCCTGCT 0.607 NA 24 12 0 0 0.005443 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35916033 35916033 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:35916033C>T uc001byx.2 - 14 2398 c.2140G>A c.(2140-2142)GGC>AGC p.G714S KIAA0319L_uc001byw.2_Missense_Mutation_p.G156S|KIAA0319L_uc010ohv.1_Missense_Mutation_p.G356S NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 714 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GACTTAGAGCCATCCAGCTCT 0.488 NA 5 59 0 0 0.000602 0 0 SF3A3 10946 broad.mit.edu 37 1 38447413 38447413 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:38447413G>C uc001cci.2 - 7 663 c.539C>G c.(538-540)GCA>GGA p.A180G SF3A3_uc010oik.1_Missense_Mutation_p.A127G NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 180 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTATACTCTGCATTCTTCCT 0.353 NA 41 15 0 0 0.00874 0 0 MACF1 23499 broad.mit.edu 37 1 39888078 39888078 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:39888078G>A uc010oiu.1 + 23 11300 c.11169G>A c.(11167-11169)CAG>CAA p.Q3723Q MACF1_uc010ois.1_Silent_p.Q3221Q|MACF1_uc001cda.1_Silent_p.Q3108Q|MACF1_uc001cdc.1_Silent_p.Q2287Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5288 Spectrin 6.|LRR 21. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCCTCTTCAGATGAAATTGC 0.398 NA 35 20 0 0 0.003755 0 0 TMCO2 127391 broad.mit.edu 37 1 40713763 40713763 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:40713763C>T uc001cfe.2 + 1 191 c.98C>T c.(97-99)ACT>ATT p.T33I NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 33 integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TTGGGAGAGACTAGTGCACCT 0.398 NA 39 117 0 0 0.005524 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120352 46120352 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:46120352T>A uc001coq.2 - 6 1701 c.340A>T c.(340-342)ACA>TCA p.T114S NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGTTCCCTGTGCCACCTCCA 0.512 NA 33 16 0 0 0.003271 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52698947 52698947 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:52698947A>T uc001cto.2 + 3 241 c.69A>T c.(67-69)GAA>GAT p.E23D ZFYVE9_uc001ctn.2_Missense_Mutation_p.E23D|ZFYVE9_uc001ctp.2_Missense_Mutation_p.E23D NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 23 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AACAAAACGAAGGTGAGAATT 0.363 NA 22 8 0 0 0.00333 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704586 52704586 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:52704586A>G uc001cto.2 + 4 1669 c.1497A>G c.(1495-1497)GAA>GAG p.E499E ZFYVE9_uc001ctn.2_Silent_p.E499E|ZFYVE9_uc001ctp.2_Silent_p.E499E NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 499 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 CCTCCAAAGAAGATTCAGTAA 0.393 NA 3 59 0 0 0.004672 0 0 CC2D1B 200014 broad.mit.edu 37 1 52823548 52823548 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:52823548G>C uc001ctq.1 - 14 1640 c.1502C>G c.(1501-1503)CCA>CGA p.P501R CC2D1B_uc001ctr.2_Missense_Mutation_p.P41R|CC2D1B_uc001cts.2_Missense_Mutation_p.P186R NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 501 ovary(2) 2 CTTGGCCACTGGGGCCTGTGC 0.587 NA 27 6 0 0 0.007291 0 0 C8A 731 broad.mit.edu 37 1 57320623 57320623 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:57320623G>T uc001cyo.2 + 1 181 c.49G>T c.(49-51)GGG>TGG p.G17W NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 17 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TTGTCAGCCTGGGGTAACTGC 0.443 NA 15 3 4.75885e-15 8.12053e-15 0.00499 1 0 DAB1 1600 broad.mit.edu 37 1 57480922 57480922 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:57480922G>T uc001cys.1 - 14 1752 c.1078C>A c.(1078-1080)CAG>AAG p.Q360K DAB1_uc001cyt.1_Missense_Mutation_p.Q358K|DAB1_uc001cyq.1_Missense_Mutation_p.Q358K|DAB1_uc001cyr.1_Missense_Mutation_p.Q274K|DAB1_uc009vzw.1_Missense_Mutation_p.Q342K|DAB1_uc009vzx.1_Missense_Mutation_p.Q360K NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 393 cell differentiation|nervous system development skin(2)|ovary(1) 3 GGCGGAAACTGCCCGGCCACA 0.657 NA 21 46 1.55469e-16 2.75083e-16 0.00333 1 0 MIER1 57708 broad.mit.edu 37 1 67442278 67442278 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:67442278G>T uc001dde.2 + 12 1236 c.1102G>T c.(1102-1104)GTC>TTC p.V368F MIER1_uc010opf.1_Missense_Mutation_p.V332F|MIER1_uc009way.2_Missense_Mutation_p.V332F|MIER1_uc001ddc.2_Missense_Mutation_p.V368F|MIER1_uc001ddh.2_Missense_Mutation_p.V252F|MIER1_uc001ddf.2_Missense_Mutation_p.V332F|MIER1_uc001ddg.2_Missense_Mutation_p.V288F|MIER1_uc010opg.1_Missense_Mutation_p.V332F|MIER1_uc001ddj.1_Missense_Mutation_p.V315F|MIER1_uc001ddi.2_Missense_Mutation_p.V315F NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 339 SANT. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 TTTCTTACAGGTCCGAACAAG 0.333 NA 28 34 3.65163e-15 6.25341e-15 0.00632 1 0 LHX8 431707 broad.mit.edu 37 1 75622645 75622645 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:75622645C>A uc001dgo.2 + 9 1542 c.878C>A c.(877-879)CCA>CAA p.P293Q LHX8_uc001dgq.2_Missense_Mutation_p.P232Q NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCCTCCACCCCAGTCACAGCA 0.512 NA 21 109 4.35082e-09 6.52963e-09 0.001523 1 0 RPF1 80135 broad.mit.edu 37 1 84961575 84961575 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:84961575A>G uc001djv.3 + 7 755 c.710A>G c.(709-711)AAG>AGG p.K237R NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 237 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 AGAAGAGGCAAGGACCCCACA 0.348 NA 13 20 0 0 0.003163 0 0 SYDE2 84144 broad.mit.edu 37 1 85648430 85648430 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:85648430T>A uc009wcm.2 - 3 1944 c.1895A>T c.(1894-1896)AAA>ATA p.K632I SYDE2_uc001dku.3_Missense_Mutation_p.K632I NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 632 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) TTTGCTAGCTTTAGTTGTAAG 0.363 NA 11 38 0 0 0.008291 0 0 CLCA4 22802 broad.mit.edu 37 1 87041235 87041235 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:87041235C>A uc009wcs.2 + 11 1948 c.1904C>A c.(1903-1905)TCA>TAA p.S635* CLCA4_uc009wct.2_Nonsense_Mutation_p.S398*|CLCA4_uc009wcu.2_Nonsense_Mutation_p.S455* NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 635 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTCATTGAATCACAGAATGGA 0.378 NA 59 61 5.73376e-24 1.10637e-23 0.00361 1 0 TGFBR3 7049 broad.mit.edu 37 1 92161253 92161253 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:92161253A>G uc001doh.2 - 16 2879 c.2413T>C c.(2413-2415)TTG>CTG p.L805L TGFBR3_uc009wde.2_Silent_p.L500L|TGFBR3_uc010osy.1_Silent_p.L763L|TGFBR3_uc001doi.2_Silent_p.L804L|TGFBR3_uc001doj.2_Silent_p.L804L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 805 Helical; (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ATGTACCACAAGGCCCCCGTC 0.478 NA 19 59 0 0 0.001882 0 0 TGFBR3 7049 broad.mit.edu 37 1 92193305 92193306 + Missense_Mutation DNP CC CC GT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:92193305_92193306CC>GT uc001doh.2 - 7 1261_1262 c.795_796GG>AC c.(793-798)GTGGTC>GTACTC p.V266L TGFBR3_uc009wde.2_Missense_Mutation_p.V44L|TGFBR3_uc010osy.1_Missense_Mutation_p.V224L|TGFBR3_uc001doi.2_Missense_Mutation_p.V266L|TGFBR3_uc001doj.2_Missense_Mutation_p.V266L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 266 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGATTTTTGACCACTTCAAGAT 0.386 NA 21 47 0 0 0.004672 0 0 ABCA4 24 broad.mit.edu 37 1 94506797 94506797 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:94506797T>C uc001dqh.2 - 23 3594 c.3490A>G c.(3490-3492)AAA>GAA p.K1164E NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1164 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGATGTTTTTCATCTTGCGC 0.567 NA 14 56 0 0 0.00245 0 0 DPYD 1806 broad.mit.edu 37 1 97700500 97700500 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:97700500C>A uc001drv.2 - 19 2487 c.2350G>T c.(2350-2352)GCT>TCT p.A784S NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 784 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCAGGCAGAGCACGAGCAATG 0.463 NA 18 15 0.000566183 0.000727841 0.00499 1 0 S1PR1 1901 broad.mit.edu 37 1 101705298 101705298 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:101705298C>T uc001dud.2 + 2 1272 c.758C>T c.(757-759)GCG>GTG p.A253V S1PR1_uc009weg.2_Missense_Mutation_p.A253V NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 253 Cytoplasmic (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 AAGTCGCTGGCGCTGCTCAAG 0.587 NA 55 42 0 0 0.00361 0 0 VAV3 10451 broad.mit.edu 37 1 108116723 108116723 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:108116723C>T uc001dvk.1 - 26 2502 c.2448G>A c.(2446-2448)AAG>AAA p.K816K VAV3_uc010ouu.1_Silent_p.K248K|VAV3_uc001dvj.1_Silent_p.K256K|VAV3_uc010ouv.1_Silent_p.K220K|VAV3_uc010ouw.1_Silent_p.K844K NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 816 SH3 2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTGTGTAAATCTTCACCACAT 0.478 NA 81 143 0 0 0.00361 0 0 AKNAD1 254268 broad.mit.edu 37 1 109377570 109377570 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109377570A>G uc001dwa.2 - 8 1914 c.1645T>C c.(1645-1647)TGT>CGT p.C549R AKNAD1_uc010ovb.1_Missense_Mutation_p.C256R|AKNAD1_uc001dwb.2_Intron NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 549 ovary(3) 3 GCCAGCTCACAGAGCTCCTCG 0.667 NA 12 68 0 0 0.000978 0 0 AKNAD1 254268 broad.mit.edu 37 1 109385883 109385883 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109385883C>T uc001dwa.2 - 6 1521 c.1252G>A c.(1252-1254)GAG>AAG p.E418K AKNAD1_uc010ovb.1_Missense_Mutation_p.E125K|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 418 Potential. ovary(3) 3 TGCAGTTTCTCCAGGACCTGC 0.493 NA 31 34 0 0 0.003755 0 0 CLCC1 23155 broad.mit.edu 37 1 109493041 109493041 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:109493041G>A uc001dwe.1 - 2 111 c.19C>T c.(19-21)CTT>TTT p.L7F AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.L7F|CLCC1_uc001dwg.1_Missense_Mutation_p.L7F|CLCC1_uc009wes.1_Missense_Mutation_p.L7F|CLCC1_uc009wet.1_Missense_Mutation_p.L7F|CLCC1_uc001dwh.1_Missense_Mutation_p.L7F NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Mid-1-related chloride channel 1 isoform 1 7 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus liver(1) 1 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CATTCACAAAGGAGCAAAGAA 0.328 NA 29 43 0 0 0.007291 0 0 WDR77 79084 broad.mit.edu 37 1 111983962 111983962 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:111983962G>A uc001ebb.2 - 10 958 c.919C>T c.(919-921)CCG>TCG p.P307S WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.P243S NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 307 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TGATTGAGCGGGGACCAAGTC 0.542 NA 39 53 0 0 0.00874 0 0 KCND3 3752 broad.mit.edu 37 1 112524607 112524607 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:112524607C>G uc001ebu.1 - 2 1222 c.742G>C c.(742-744)GCT>CCT p.A248P KCND3_uc001ebv.1_Missense_Mutation_p.A248P NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 248 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CGGCTGGGAGCCGCGAAGAGC 0.622 NA 22 35 0 0 0.002299 0 0 MAGI3 260425 broad.mit.edu 37 1 114186388 114186388 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:114186388G>T uc001edk.2 + 11 2171 c.1990G>T c.(1990-1992)GCC>TCC p.A664S MAGI3_uc001edh.3_Missense_Mutation_p.A689S|MAGI3_uc001edi.3_Missense_Mutation_p.A664S|MAGI3_uc010owm.1_Missense_Mutation_p.A689S|MAGI3_uc001edj.2_Missense_Mutation_p.A385S NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 689 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACCAAAACTGCCAAAATGGT 0.413 NA 33 63 3.62531e-18 6.5971e-18 0.004289 1 0 SPAG17 200162 broad.mit.edu 37 1 118535194 118535194 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:118535194G>T uc001ehk.2 - 36 5324 c.5256C>A c.(5254-5256)GCC>GCA p.A1752A NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1752 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) TGGCACCCGGGGCACTCACTA 0.468 NA 32 43 3.80469e-20 7.14032e-20 0.001786 1 0 HAO2 51179 broad.mit.edu 37 1 119927430 119927430 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:119927430C>A uc001ehq.1 + 5 667 c.315C>A c.(313-315)ACC>ACA p.T105T HAO2_uc001ehr.1_Silent_p.T105T NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 105 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GCTACATCACCAGCACATTTG 0.547 NA 37 54 3.21399e-22 6.13988e-22 0.004878 1 0 HRNR 388697 broad.mit.edu 37 1 152187476 152187476 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152187476C>G uc001ezt.1 - 3 6705 c.6629G>C c.(6628-6630)AGC>ACC p.S2210T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2210 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGCCACGGCTGGAAGAACG 0.597 NA 26 308 0 0 0.001786 0 0 FLG 2312 broad.mit.edu 37 1 152278628 152278628 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152278628A>C uc001ezu.1 - 3 8770 c.8734T>G c.(8734-8736)TCC>GCC p.S2912A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2912 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTTTCTGGAAGCAGACCCA 0.567 NA Ichthyosis 43 304 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152283392 152283392 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152283392C>T uc001ezu.1 - 3 4006 c.3970G>A c.(3970-3972)GAC>AAC p.D1324N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1324 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAGCTGTCTGCAGAGTGC 0.358 NA Ichthyosis 195 219 0 0 0.00361 0 0 CRNN 49860 broad.mit.edu 37 1 152384655 152384655 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:152384655C>G uc001ezx.2 - 2 129 c.55G>C c.(55-57)GCA>CCA p.A19P NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 19 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGTCCTTGCATAGCGCCTG 0.522 NA 60 91 0 0 0.00361 0 0 NUP210L 91181 broad.mit.edu 37 1 154062039 154062039 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:154062039C>A uc001fdw.2 - 16 2291 c.2219G>T c.(2218-2220)GGT>GTT p.G740V NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G740V NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 740 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GTTCAGGACACCTGGATGATT 0.448 NA 51 69 1.22102e-19 2.26929e-19 0.00361 1 0 FDPS 2224 broad.mit.edu 37 1 155287752 155287752 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:155287752G>A uc001fkc.2 + 5 720 c.501G>A c.(499-501)GTG>GTA p.V167V RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Silent_p.V101V|FDPS_uc001fke.2_Silent_p.V167V|FDPS_uc001fkf.2_Silent_p.V101V|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 167 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) TCTTCCTGGTGGCAGATGACA 0.493 NA 7 61 0 0 0.00308 0 0 CD5L 922 broad.mit.edu 37 1 157803090 157803090 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:157803090C>A uc001frk.3 - 5 1074 c.931G>T c.(931-933)GAT>TAT p.D311Y NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 311 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CGAACATTATCCAGCCAGATG 0.582 NA 48 58 4.64027e-19 8.55772e-19 0.00361 1 0 CD1C 911 broad.mit.edu 37 1 158263089 158263089 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:158263089A>C uc001fru.2 + 5 1269 c.977A>C c.(976-978)CAC>CCC p.H326P CD1C_uc001frv.2_Intron NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 326 Cytoplasmic (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TTTAAGAAGCACTGGTGAGTT 0.398 NA 45 167 0 0 0.00361 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517333 158517333 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:158517333G>T uc010pil.1 - 1 563 c.563C>A c.(562-564)CCA>CAA p.P188Q NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GTTAAGGAGTGGAGAGATATC 0.458 NA 19 26 1.45105e-14 2.44562e-14 0.006122 1 0 OR10J5 127385 broad.mit.edu 37 1 159505076 159505076 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:159505076A>T uc010piw.1 - 1 722 c.722T>A c.(721-723)GTC>GAC p.V241D NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) GAGGTGGGAGACACAGGTGGC 0.488 NA 29 51 0 0 0.007291 0 0 DDR2 4921 broad.mit.edu 37 1 162745580 162745580 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:162745580T>C uc001gcf.2 + 16 2460 c.1995T>C c.(1993-1995)TTT>TTC p.F665F DDR2_uc001gcg.2_Silent_p.F665F NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 665 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAATCAGTTTCTTTCCCGCC 0.473 NSCLC(161;314 2006 8283 19651 23192) NA 39 164 0 0 0.002522 0 0 RXRG 6258 broad.mit.edu 37 1 165376069 165376069 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:165376069C>G uc001gda.2 - 9 1524 c.1224G>C c.(1222-1224)AAG>AAC p.K408N NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 408 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GTTCCGGATACTTCTGCTTGG 0.458 NA 38 39 0 0 0.006999 0 0 DUSP27 92235 broad.mit.edu 37 1 167097711 167097711 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:167097711G>T uc001geb.1 + 5 3343 c.3343G>T c.(3343-3345)GGA>TGA p.G1115* NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1115 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GTTTGCATCTGGACGGCGGTC 0.507 NA 19 22 1.96292e-10 3.0411e-10 0.001523 1 0 MYOC 4653 broad.mit.edu 37 1 171621301 171621301 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:171621301C>A uc001ghu.2 - 1 473 c.451G>T c.(451-453)GTT>TTT p.V151F MYOC_uc010pmk.1_Missense_Mutation_p.V93F NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 151 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TCCTCCAGAACTGACTTGTCT 0.577 NA 101 144 1.41219e-46 3.04334e-46 0.00361 1 0 FASLG 356 broad.mit.edu 37 1 172635156 172635156 + Nonstop_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:172635156A>C uc001gis.2 + 4 1003 c.846A>C c.(844-846)TAA>TAC p.*282Y FASLG_uc001git.2_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 282 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 ATAAGCTCTAAGAGAAGCACT 0.388 Ovarian(28;486 876 30334 44033) NA 12 56 0 0 0.001855 0 0 TNR 7143 broad.mit.edu 37 1 175372638 175372638 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:175372638G>C uc001gkp.1 - 2 695 c.614C>G c.(613-615)CCG>CGG p.P205R TNR_uc009wwu.1_Missense_Mutation_p.P205R|TNR_uc010pmz.1_Missense_Mutation_p.P205R NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 205 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCAACCCAGCGGGCAGTAGGG 0.597 NA 58 103 0 0 0.00361 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526293 176526293 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:176526293C>A uc001gkz.2 + 2 1999 c.835C>A c.(835-837)CTG>ATG p.L279M PAPPA2_uc001gky.1_Missense_Mutation_p.L279M|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 279 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCCAGAAGTGCTGGCTGAGAT 0.582 NA 13 20 7.03913e-09 1.04822e-08 0.001368 1 0 MR1 3140 broad.mit.edu 37 1 181021464 181021464 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:181021464A>G uc001goq.1 + 4 703 c.698A>G c.(697-699)TAC>TGC p.Y233C MR1_uc001gor.1_Missense_Mutation_p.Y188C|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 233 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 CCAGAAATTTACATGACATGG 0.453 Colon(174;1412 1962 45296 46549 47110) NA 37 34 0 0 0.004289 0 0 CACNA1E 777 broad.mit.edu 37 1 181724430 181724430 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:181724430T>C uc001gow.2 + 28 4051 c.3886T>C c.(3886-3888)TAC>CAC p.Y1296H CACNA1E_uc009wxs.2_Missense_Mutation_p.Y1184H|CACNA1E_uc001gox.1_Missense_Mutation_p.Y522H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Y522H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1296 III.|Helical; Name=S5 of repeat III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ACTCATTGTGTACAAGCTCTT 0.478 NA 27 101 0 0 0.005443 0 0 LAMC1 3915 broad.mit.edu 37 1 183086479 183086479 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:183086479A>C uc001gpy.3 + 9 1846 c.1589A>C c.(1588-1590)CAG>CCG p.Q530P NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 530 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTGCGGAACAGAGAGATGGC 0.478 NA 22 25 0 0 0.004656 0 0 TPR 7175 broad.mit.edu 37 1 186295264 186295264 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:186295264T>A uc001grv.2 - 41 6290 c.5993A>T c.(5992-5994)AAT>ATT p.N1998I NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1998 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ataaccatcattgccatcggc 0.169 NA T NTRK1 papillary thyroid 44 65 0 0 0.00361 0 0 CRB1 23418 broad.mit.edu 37 1 197404400 197404400 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:197404400G>T uc001gtz.2 + 9 3542 c.3407G>T c.(3406-3408)GGC>GTC p.G1136V CRB1_uc010poz.1_Missense_Mutation_p.G1112V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G1024V|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G617V|CRB1_uc001gub.1_Missense_Mutation_p.G785V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1136 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GTGGTCACTGGCTGTTTGCAG 0.413 NA 23 70 1.10923e-09 1.69929e-09 0.00278 1 0 CR2 1380 broad.mit.edu 37 1 207640047 207640047 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:207640047G>T uc001hfw.2 + 2 329 c.235G>T c.(235-237)GCT>TCT p.A79S CR2_uc001hfv.2_Missense_Mutation_p.A79S|CR2_uc009xch.2_Missense_Mutation_p.A79S NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 79 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GGATAAACCTGCTCCTAAATG 0.408 NA 38 61 6.97489e-18 1.26206e-17 0.004878 1 0 USH2A 7399 broad.mit.edu 37 1 216138697 216138697 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216138697T>A uc001hku.1 - 37 7469 c.7082A>T c.(7081-7083)CAC>CTC p.H2361L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2361 Extracellular (Potential).|Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGGACTGAGTGTGTTAAGAG 0.378 NA HNSCC(13;0.011) 65 89 0 0 0.00361 0 0 USH2A 7399 broad.mit.edu 37 1 216243576 216243576 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216243576C>G uc001hku.1 - 30 6303 c.5916G>C c.(5914-5916)GAG>GAC p.E1972D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1972 Extracellular (Potential).|Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCAGGTCACCTCAATGCTGT 0.483 NA HNSCC(13;0.011) 37 37 0 0 0.002522 0 0 ESRRG 2104 broad.mit.edu 37 1 216741352 216741352 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:216741352C>A uc001hkw.1 - 4 844 c.678G>T c.(676-678)CTG>CTT p.L226L ESRRG_uc001hky.1_Silent_p.L203L|ESRRG_uc009xdp.1_Silent_p.L203L|ESRRG_uc001hkz.1_Silent_p.L164L|ESRRG_uc010puc.1_Silent_p.L203L|ESRRG_uc001hla.1_Silent_p.L203L|ESRRG_uc001hlb.1_Silent_p.L203L|ESRRG_uc010pud.1_Silent_p.L34L|ESRRG_uc001hlc.1_Silent_p.L203L|ESRRG_uc001hld.1_Silent_p.L203L|ESRRG_uc001hkx.1_Silent_p.L231L|ESRRG_uc009xdo.1_Silent_p.L203L|ESRRG_uc001hle.1_Silent_p.L203L NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 226 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTGGCTGAACCAGCTGAGGGT 0.527 NA 18 77 9.16793e-09 1.35262e-08 0.00499 1 0 WNT3A 89780 broad.mit.edu 37 1 228246785 228246785 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:228246785C>A uc001hrq.1 + 4 756 c.678C>A c.(676-678)GCC>GCA p.A226A WNT3A_uc001hrp.1_Silent_p.A226A NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 226 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) ACTTCCGCGCCATCGGTGACT 0.657 NA 19 36 1.78486e-19 3.3108e-19 0.007413 1 0 OBSCN 84033 broad.mit.edu 37 1 228553830 228553830 + Silent SNP G G A rs74144615 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:228553830G>A uc009xez.1 + 83 19163 c.19119G>A c.(19117-19119)ACG>ACA p.T6373T OBSCN_uc001hsr.1_Silent_p.T1002T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6373 Ig-like 54. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGGCGGAACGGCCCAATTCG 0.637 NA 25 43 0 0 0.003954 0 0 ACTA1 58 broad.mit.edu 37 1 229568170 229568170 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:229568170G>T uc001htm.2 - 4 568 c.463C>A c.(463-465)CTG>ATG p.L155M NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 155 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CCGGAGTCCAGCACGATGCCT 0.602 NA 22 20 1.77063e-15 3.07059e-15 0.005443 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232650001 232650001 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:232650001G>A uc001hvg.2 - 1 1243 c.1085C>T c.(1084-1086)TCT>TTT p.S362F NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 362 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGATGCTGCAGATGCCCCAGT 0.498 NA 56 73 0 0 0.00361 0 0 ACTN2 88 broad.mit.edu 37 1 236925788 236925788 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:236925788C>T uc001hyf.2 + 21 2758 c.2554C>T c.(2554-2556)CGG>TGG p.R852W ACTN2_uc001hyg.2_Missense_Mutation_p.R644W|ACTN2_uc009xgi.1_Missense_Mutation_p.R852W|ACTN2_uc010pxu.1_Missense_Mutation_p.R541W|ACTN2_uc001hyh.2_Missense_Mutation_p.R540W NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 852 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGAGCTGCGTCGGGAGCTGCC 0.547 NA 25 39 0 0 0.004656 0 0 RYR2 6262 broad.mit.edu 37 1 237754103 237754103 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:237754103G>T uc001hyl.1 + 31 4091 c.3971G>T c.(3970-3972)GGG>GTG p.G1324V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1324 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGCTCCCTGGGGCTGGCCTT 0.522 NA 34 84 1.61788e-16 2.84166e-16 0.002445 1 0 RYR2 6262 broad.mit.edu 37 1 237880573 237880573 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:237880573G>T uc001hyl.1 + 72 10519 c.10399G>T c.(10399-10401)GTA>TTA p.V3467L RYR2_uc010pxz.1_Missense_Mutation_p.V422L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3467 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCTCTGATTGTAGCAGCTCT 0.498 NA 16 18 2.31682e-05 3.09447e-05 0.003163 1 0 AKT3 10000 broad.mit.edu 37 1 243858929 243858929 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:243858929C>G uc001iab.1 - 2 217 c.136G>C c.(136-138)GAT>CAT p.D46H AKT3_uc001hzz.1_Missense_Mutation_p.D46H NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 46 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TAAGGTAAATCCACATCTTGA 0.318 NA 7 18 0 0 0.00308 0 0 PPPDE1 51029 broad.mit.edu 37 1 244849926 244849926 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:244849926A>T uc001iao.2 + 2 334 c.70A>T c.(70-72)ATT>TTT p.I24F PPPDE1_uc001iap.2_Missense_Mutation_p.I24F NM_016076 NP_057160 Q9BSY9 PPDE1_HUMAN PPPDE peptidase domain containing 1 24 PPPDE peptidase. breast(3) 3 TACCTCATCCATTGGAATTGG 0.363 NA 13 30 0 0 0.001855 0 0 VN1R5 317705 broad.mit.edu 37 1 247419548 247419548 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:247419548G>T uc010pyu.1 + 2 175 c.175G>T c.(175-177)GCA>TCA p.A59S NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 59 Helical; Name=2; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) TGGAATTTCAGCAAACACCAT 0.358 GBM(98;63 1399 4825 21305 33017) NA 38 102 6.97489e-18 1.26206e-17 0.004878 1 0 OR1C1 26188 broad.mit.edu 37 1 247920989 247920989 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:247920989G>T uc010pza.1 - 1 720 c.720C>A c.(718-720)ACC>ACA p.T240T NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGCAGCTGCAGGTGGAAACAG 0.527 NA 28 9 4.22769e-11 6.63561e-11 0.00632 1 0 OR2W3 343171 broad.mit.edu 37 1 248059669 248059669 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248059669C>A uc001idp.1 + 3 1050 c.781C>A c.(781-783)CAG>AAG p.Q261K OR2W3_uc010pzb.1_Missense_Mutation_p.Q261K NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATGTACATGCAGCCAGGAGC 0.522 NA 27 70 4.7796e-09 7.15076e-09 0.004656 1 0 OR2L8 391190 broad.mit.edu 37 1 248112502 248112502 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248112502G>C uc001idt.1 + 1 343 c.343G>C c.(343-345)GCA>CCA p.A115P OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACTACTTTTGGCATCTATGGC 0.438 NA 113 95 0 0 0.00361 0 0 OR2L13 284521 broad.mit.edu 37 1 248262910 248262910 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248262910C>T uc001ids.2 + 3 570 c.233C>T c.(232-234)CCC>CTC p.P78L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ACCACCGTCCCCAAGATGGCG 0.537 NA 50 72 0 0 0.00361 0 0 OR2M4 26245 broad.mit.edu 37 1 248402768 248402768 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248402768G>T uc010pzh.1 + 1 538 c.538G>T c.(538-540)GAT>TAT p.D180Y NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTTTTTCTGTGATGTTGCTGC 0.428 NA 36 56 6.70999e-13 1.08514e-12 0.004289 1 0 OR2T12 127064 broad.mit.edu 37 1 248458340 248458340 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248458340C>T uc010pzj.1 - 1 541 c.541G>A c.(541-543)GTG>ATG p.V181M NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CGCACCAACACGGGGGCCTCG 0.562 NA 21 43 0 0 0.001882 0 0 OR14C36 127066 broad.mit.edu 37 1 248512579 248512579 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr1:248512579G>T uc010pzl.1 + 1 503 c.503G>T c.(502-504)CGG>CTG p.R168L NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCCTTCTGTCGGTCCAACGTT 0.502 NA 22 31 2.21704e-12 3.54948e-12 0.00278 1 0 ITIH2 3698 broad.mit.edu 37 10 7773912 7773912 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:7773912G>T uc001ijs.2 + 13 1762 c.1600G>T c.(1600-1602)GAC>TAC p.D534Y NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 534 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGGAAAATTTGACCCTGCTAA 0.423 NA 16 47 6.49762e-13 1.05257e-12 0.006122 1 0 CUBN 8029 broad.mit.edu 37 10 16930475 16930475 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:16930475A>T uc001ioo.2 - 56 8898 c.8846T>A c.(8845-8847)GTC>GAC p.V2949D CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.V305D NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2949 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCTCTATGACATAGGTGCA 0.353 NA 12 43 0 0 0.000978 0 0 CUBN 8029 broad.mit.edu 37 10 17087992 17087992 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:17087992T>C uc001ioo.2 - 24 3483 c.3431A>G c.(3430-3432)AAG>AGG p.K1144R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1144 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGGTCACTCTTAAATTTTAA 0.398 NA 23 50 0 0 0.004656 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270281 18270281 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:18270281A>G uc001ipo.2 + 6 1238 c.965A>G c.(964-966)CAG>CGG p.Q322R SLC39A12_uc001ipn.2_Missense_Mutation_p.Q322R|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q322R|SLC39A12_uc010qck.1_Missense_Mutation_p.Q188R NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 322 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 ATATTTCTACAGAAGGGCCTC 0.458 NA 16 40 0 0 0.00499 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702943 27702943 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:27702943C>A uc001itu.2 - 1 355 c.237G>T c.(235-237)TCG>TCT p.S79S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 79 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CGTCCAGCATCGACGGCCGGG 0.716 NA 9 42 2.17888e-05 2.91836e-05 0.006214 1 0 ZNF37A 7587 broad.mit.edu 37 10 38403763 38403763 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:38403763G>A uc001izk.2 + 6 915 c.96G>A c.(94-96)CTG>CTA p.L32L ZNF37A_uc001izl.2_Silent_p.L32L|ZNF37A_uc001izm.2_Silent_p.L32L NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 32 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AGAGGACCCTGTACAGGGATG 0.493 NA 20 96 0 0 0.001523 0 0 CHAT 1103 broad.mit.edu 37 10 50835818 50835818 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:50835818G>C uc001jhz.2 + 7 1251 c.1098G>C c.(1096-1098)ACG>ACC p.T366T CHAT_uc001jhv.1_Silent_p.T248T|CHAT_uc001jhx.1_Silent_p.T248T|CHAT_uc001jhy.1_Silent_p.T248T|CHAT_uc001jia.2_Silent_p.T248T|CHAT_uc010qgs.1_Silent_p.T248T NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 366 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AGGCCAGGACGGTCCTCGTGA 0.602 NA 15 30 0 0 0.003163 0 0 ANK3 288 broad.mit.edu 37 10 61844412 61844412 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:61844412G>A uc001jky.2 - 32 4214 c.4022C>T c.(4021-4023)ACT>ATT p.T1341I ANK3_uc001jkw.2_Missense_Mutation_p.T475I|ANK3_uc009xpa.2_Missense_Mutation_p.T475I|ANK3_uc001jkx.2_Missense_Mutation_p.T519I|ANK3_uc010qih.1_Missense_Mutation_p.T1342I|ANK3_uc001jkz.3_Missense_Mutation_p.T1335I|ANK3_uc001jla.1_Missense_Mutation_p.T407I|ANK3_uc001jlb.1_Missense_Mutation_p.T859I|ANK3_uc001jkv.2_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1341 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTGCTCTAAAGTTTTGTCCAC 0.373 NA 20 163 0 0 0.003954 0 0 GRID1 2894 broad.mit.edu 37 10 87373338 87373338 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:87373338G>T uc001kdl.1 - 15 2528 c.2427C>A c.(2425-2427)GGC>GGA p.G809G GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.G380G NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 809 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GGTCACAGCGGCCCATGTGCG 0.612 NA Multiple Myeloma(13;0.14) 16 50 5.01169e-05 6.63842e-05 0.00499 1 0 GRID1 2894 broad.mit.edu 37 10 87628928 87628928 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:87628928C>A uc001kdl.1 - 6 891 c.790G>T c.(790-792)GAC>TAC p.D264Y GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 264 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATCTCCGGGTCACTGATTTCC 0.502 NA Multiple Myeloma(13;0.14) 30 53 1.99505e-19 3.68643e-19 0.002445 1 0 PIPSL 266971 broad.mit.edu 37 10 95719309 95719309 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:95719309G>C uc009xuj.2 - 1 2364 c.1845C>G c.(1843-1845)TGC>TGG p.C615W NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 CCTTCTTGAGGCATTTAGCCA 0.443 NA 7 28 0 0 0.004482 0 0 PLCE1 51196 broad.mit.edu 37 10 96005999 96005999 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:96005999C>A uc001kjk.2 + 8 3351 c.2717C>A c.(2716-2718)GCA>GAA p.A906E PLCE1_uc010qnx.1_Missense_Mutation_p.A906E|PLCE1_uc001kjm.2_Missense_Mutation_p.A598E NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 906 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AGCAGTAAAGCAAAACTTGGT 0.512 NA 18 35 0.000566183 0.000727841 0.00499 1 0 SORBS1 10580 broad.mit.edu 37 10 97078119 97078119 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:97078119T>C uc001kkp.2 - 30 3814 c.3769A>G c.(3769-3771)ATC>GTC p.I1257V SORBS1_uc001kkk.2_Missense_Mutation_p.I513V|SORBS1_uc001kkl.2_Missense_Mutation_p.I601V|SORBS1_uc001kkn.2_Missense_Mutation_p.I764V|SORBS1_uc001kkm.2_Missense_Mutation_p.I799V|SORBS1_uc001kko.2_Missense_Mutation_p.I1116V|SORBS1_uc001kkq.2_Missense_Mutation_p.I870V|SORBS1_uc001kkr.2_Missense_Mutation_p.I705V|SORBS1_uc001kks.2_Missense_Mutation_p.I649V|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.I746V|SORBS1_uc001kkv.2_Missense_Mutation_p.I781V|SORBS1_uc001kkw.2_Missense_Mutation_p.I1231V|SORBS1_uc010qoe.1_Missense_Mutation_p.I714V NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 1257 SH3 3. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ACATCAACGATATCTCCATCG 0.368 NA 22 72 0 0 0.003954 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98376423 98376423 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:98376423C>A uc001kmq.2 - 13 2115 c.1987G>T c.(1987-1989)GAG>TAG p.E663* PIK3AP1_uc001kmo.2_Nonsense_Mutation_p.E262*|PIK3AP1_uc001kmp.2_Nonsense_Mutation_p.E485* NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 663 Potential. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TTTTGCTTCTCTCTCTGTCTT 0.433 NA 32 45 8.73648e-17 1.54867e-16 0.004289 1 0 C10orf28 27291 broad.mit.edu 37 10 99968119 99968119 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:99968119G>T uc001kow.3 + 4 543 c.248G>T c.(247-249)AGA>ATA p.R83I C10orf28_uc001kox.3_Missense_Mutation_p.R83I|C10orf28_uc001koy.3_Missense_Mutation_p.R83I|C10orf28_uc009xvx.2_Missense_Mutation_p.R83I|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 83 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) CATAATTGTAGAGAAGAAAAG 0.343 NA 27 92 6.32553e-13 1.02643e-12 0.004656 1 0 FBXW4 6468 broad.mit.edu 37 10 103427688 103427688 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:103427688T>C uc001kto.2 - 5 1071 c.725A>G c.(724-726)CAG>CGG p.Q242R NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 242 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) GTCTTCAGTCTGGATGGTGTG 0.498 NA 50 38 0 0 0.00361 0 0 PSD 5662 broad.mit.edu 37 10 104176638 104176638 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:104176638G>A uc001kvg.1 - 2 685 c.158C>T c.(157-159)CCA>CTA p.P53L PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.P53L|PSD_uc001kvi.1_Missense_Mutation_p.P53L|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 53 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TCGAGGACCTGGACCTGCCAC 0.697 NA 6 18 0 0 0.00308 0 0 NRAP 4892 broad.mit.edu 37 10 115384620 115384620 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:115384620G>A uc001laj.2 - 22 2478 c.2314C>T c.(2314-2316)CTG>TTG p.L772L NRAP_uc009xyb.2_Silent_p.L83L|NRAP_uc001lak.2_Silent_p.L737L|NRAP_uc001lal.3_Silent_p.L772L NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 772 Nebulin 19. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CGGGCCTGCAGGAAGAGAGGC 0.532 NA 11 97 0 0 0.00499 0 0 CUZD1 50624 broad.mit.edu 37 10 124593398 124593398 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:124593398G>A uc001lgq.2 - 8 1773 c.1441C>T c.(1441-1443)CAG>TAG p.Q481* CUZD1_uc001lgp.2_Nonsense_Mutation_p.Q200*|CUZD1_uc009yad.2_Nonsense_Mutation_p.Q200*|CUZD1_uc009yaf.2_Nonsense_Mutation_p.Q115*|CUZD1_uc001lgr.2_Nonsense_Mutation_p.Q200*|CUZD1_uc010qty.1_Nonsense_Mutation_p.Q200*|CUZD1_uc009yae.2_Nonsense_Mutation_p.Q200*|CUZD1_uc001lgs.2_Nonsense_Mutation_p.Q481*|CUZD1_uc010qtz.1_Nonsense_Mutation_p.Q481* NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 481 Extracellular (Potential).|ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GCATTAAACTGGAATCTCCCA 0.378 NA 13 53 0 0 0.001855 0 0 PSTK 118672 broad.mit.edu 37 10 124740202 124740202 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:124740202G>A uc001lgy.1 + 1 647 c.207G>A c.(205-207)GCG>GCA p.A69A NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 69 ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) GGGCAAGAGCGCGACCGGCGG 0.592 NA OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.001168 0 0 C10orf90 118611 broad.mit.edu 37 10 128192828 128192828 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:128192828G>A uc001ljq.2 - 3 1062 c.941C>T c.(940-942)CCA>CTA p.P314L C10orf90_uc001ljp.2_Missense_Mutation_p.P267L|C10orf90_uc010qum.1_Missense_Mutation_p.P411L|C10orf90_uc009yao.2_Missense_Mutation_p.P411L|C10orf90_uc001ljs.1_Missense_Mutation_p.P267L NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 314 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCGCTTATTGGCTCTCTGTT 0.532 NA OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 32 0 0 0.00623 0 0 C10orf90 118611 broad.mit.edu 37 10 128193239 128193239 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:128193239G>A uc001ljq.2 - 3 651 c.530C>T c.(529-531)CCC>CTC p.P177L C10orf90_uc001ljp.2_Missense_Mutation_p.P130L|C10orf90_uc010qum.1_Missense_Mutation_p.P274L|C10orf90_uc009yao.2_Missense_Mutation_p.P274L|C10orf90_uc001ljs.1_Missense_Mutation_p.P130L NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 177 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CAGAGCCGGGGGCGCCTGGAA 0.667 NA OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 64 0 0 0.003954 0 0 MUC2 4583 broad.mit.edu 37 11 1093613 1093613 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:1093613C>T uc001lsx.1 + 31 12545 c.12518C>T c.(12517-12519)CCA>CTA p.P4173L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4173 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACACAGACCCCAACCATGATA 0.438 NA 26 18 0 0 0.003954 0 0 IGF2 3481 broad.mit.edu 37 11 2156610 2156610 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:2156610G>T uc009yde.2 - 2 247 c.144C>A c.(142-144)CGC>CGA p.R48R IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Silent_p.R48R|IGF2_uc009ydf.2_Silent_p.R104R|IGF2_uc001lvh.2_Silent_p.R48R|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 48 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGTAGAAGCCGCGGTCCCCAC 0.637 NA 9 6 1.58986e-06 2.2161e-06 0.008291 1 0 ZNF195 7748 broad.mit.edu 37 11 3392868 3392868 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:3392868G>A uc001lxt.2 - 2 247 c.69C>T c.(67-69)CTC>CTT p.L23L ZNF195_uc001lxv.2_Silent_p.L23L|ZNF195_uc001lxs.2_Silent_p.L23L|ZNF195_uc010qxr.1_Silent_p.L27L|ZNF195_uc009ydz.2_Silent_p.L27L|ZNF195_uc001lxu.2_Silent_p.L27L NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TCTGCTGAGCGAGGTCCAGGC 0.443 NA 28 57 0 0 0.008361 0 0 OR52I1 390037 broad.mit.edu 37 11 4616129 4616129 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:4616129C>A uc010qyi.1 + 1 861 c.861C>A c.(859-861)ATC>ATA p.I287I NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTACGTGATCATCCCAGCCA 0.498 NA 54 49 9.57592e-29 1.9415e-28 0.00361 1 0 OR52R1 119695 broad.mit.edu 37 11 4825134 4825134 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:4825134C>A uc010qym.1 - 1 714 c.714G>T c.(712-714)GTG>GTT p.V238V NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAGGGGCTCACCCACAGCA 0.562 NA 49 37 3.21987e-24 6.25072e-24 0.00361 1 0 OR56A4 120793 broad.mit.edu 37 11 6024341 6024341 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6024341A>T uc010qzv.1 - 1 38 c.38T>A c.(37-39)ATA>AAA p.I13K NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, Error:Variant_position_missing_in_Q8NGH8_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGCCCTGTATCTGTCCCAA 0.294 NA 27 36 0 0 0.002096 0 0 FAM160A2 84067 broad.mit.edu 37 11 6240220 6240220 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6240220G>A uc001mcl.3 - 7 1611 c.1252C>T c.(1252-1254)CTG>TTG p.L418L FAM160A2_uc001mck.3_Silent_p.L418L|FAM160A2_uc001mcm.2_Silent_p.L418L NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 418 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 AGCTGCAGCAGGACATCCTCA 0.577 NA 18 13 0 0 0.006122 0 0 OR6A2 8590 broad.mit.edu 37 11 6816722 6816722 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:6816722C>A uc001mes.1 - 1 418 c.218G>T c.(217-219)TGG>TTG p.W73L NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTGACATACCAGATCTCCAG 0.438 NA 19 60 2.54575e-18 4.67696e-18 0.001523 1 0 SYT9 143425 broad.mit.edu 37 11 7441858 7441858 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:7441858C>A uc001mfe.2 + 6 1696 c.1459C>A c.(1459-1461)CTG>ATG p.L487M SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 487 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CTGGCATTCCCTGGTGGAGGT 0.507 NA 33 28 7.63505e-26 1.51281e-25 0.002445 1 0 NLRP10 338322 broad.mit.edu 37 11 7984990 7984990 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:7984990C>A uc001mfv.1 - 1 70 c.53G>T c.(52-54)AGT>ATT p.S18I NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 18 DAPIN. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCAAGGTCACTCAAGGCCCA 0.572 NA 18 47 5.3912e-06 7.36491e-06 0.006122 1 0 GALNTL4 374378 broad.mit.edu 37 11 11292739 11292739 + Silent SNP C C G rs140917604 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:11292739C>G uc001mjo.2 - 11 2197 c.1776G>C c.(1774-1776)TCG>TCC p.S592S NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 592 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) AGTGCTGGCCCGAGCACTTCT 0.617 NA 37 26 0 0 0.005524 0 0 KCNC1 3746 broad.mit.edu 37 11 17758089 17758089 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:17758089C>T uc001mnk.3 + 1 595 c.540C>T c.(538-540)TTC>TTT p.F180F KCNC1_uc009yhc.1_Silent_p.F180F NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 180 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 GGGCGCTCTTCGAGGACCCGT 0.687 NA 8 6 0 0 0.00308 0 0 UEVLD 55293 broad.mit.edu 37 11 18587914 18587914 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:18587914T>C uc001mot.2 - 5 553 c.473A>G c.(472-474)TAT>TGT p.Y158C UEVLD_uc001mou.2_Missense_Mutation_p.Y158C|UEVLD_uc010rde.1_Missense_Mutation_p.Y28C|UEVLD_uc010rdf.1_Missense_Mutation_p.Y136C|UEVLD_uc010rdg.1_Missense_Mutation_p.Y28C|UEVLD_uc001mov.2_Missense_Mutation_p.Y136C|UEVLD_uc010rdh.1_Missense_Mutation_p.Y158C NM_001040697 NP_001035787 Q8IX04 UEVLD_HUMAN ubiquitin-conjugating enzyme E2-like isoform a 158 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 0 TTTTGCAATATAGGCTAGCAA 0.378 NA 45 22 0 0 0.002522 0 0 PTPN5 84867 broad.mit.edu 37 11 18765577 18765577 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:18765577G>T uc001mpd.2 - 4 698 c.267C>A c.(265-267)TGC>TGA p.C89* PTPN5_uc001mpb.2_Nonsense_Mutation_p.C89*|PTPN5_uc001mpc.2_Nonsense_Mutation_p.C89*|PTPN5_uc001mpe.2_Nonsense_Mutation_p.C89*|PTPN5_uc010rdj.1_Nonsense_Mutation_p.C65*|PTPN5_uc001mpf.2_Nonsense_Mutation_p.C65*|PTPN5_uc010rdk.1_Nonsense_Mutation_p.C34* NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 89 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 CAGCGAACAGGCACAGGCTGC 0.662 NA 27 57 3.65163e-15 6.25341e-15 0.00632 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622673 20622673 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:20622673A>T uc001mqd.2 + 2 277 c.4_splice c.e2-2 p.D2_splice SLC6A5_uc009yic.2_Splice_Site NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TTGTGTTTGCAGGATTGCAGT 0.532 NA 4 9 0 0 0.000602 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363101 22363101 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:22363101G>C uc001mqk.2 + 2 527 c.114G>C c.(112-114)GGG>GGC p.G38G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 38 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 AAGACACCGGGGAGACAATCG 0.642 NA 13 63 0 0 0.004007 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725171 26725171 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:26725171A>T uc001mra.2 - 6 1041 c.728T>A c.(727-729)GTG>GAG p.V243E SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V243E NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 243 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 AGTTCCTCCCACTGTGATAGT 0.408 NA 33 131 0 0 0.002096 0 0 Unknown 0 broad.mit.edu 37 11 31125268 31125268 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:31125268T>C uc009yjk.1 - 2 213 c.144A>G c.(142-144)GCA>GCG p.A48A uc009yjl.1_5'UTR|DCDC1_uc001msu.1_Silent_p.A219A RecName: Full=Doublecortin domain-containing protein 5; NA CTCTGGCAAATGCACTCACTC 0.368 NA 57 25 0 0 0.00361 0 0 C11orf41 25758 broad.mit.edu 37 11 33565256 33565256 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:33565256T>G uc001mup.3 + 1 1380 c.1256T>G c.(1255-1257)TTG>TGG p.L419W C11orf41_uc001mun.1_Missense_Mutation_p.L419W NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 419 integral to membrane ovary(2) 2 ATATCTGGCTTGCAGCAGCAA 0.398 NA OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 47 0 0 0.006214 0 0 PAMR1 25891 broad.mit.edu 37 11 35456226 35456226 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:35456226A>G uc001mwg.2 - 10 1503 c.1460T>C c.(1459-1461)CTA>CCA p.L487P PAMR1_uc001mwf.2_Missense_Mutation_p.L504P|PAMR1_uc010rew.1_Missense_Mutation_p.L376P|PAMR1_uc010rex.1_Missense_Mutation_p.L447P NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 487 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GCTGCAGACTAGGAACCACGC 0.617 NA 53 37 0 0 0.00361 0 0 PRR5L 79899 broad.mit.edu 37 11 36484178 36484178 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:36484178C>G uc001mwo.3 + 9 1388 c.999C>G c.(997-999)CAC>CAG p.H333Q PRR5L_uc001mwp.2_Missense_Mutation_p.H333Q|PRR5L_uc009ykk.2_Missense_Mutation_p.H205Q|PRR5L_uc010rfc.1_3'UTR NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 333 ovary(1) 1 CCCCGCCCCACCGGCAGTGCT 0.672 NA 26 15 0 0 0.003954 0 0 ALX4 60529 broad.mit.edu 37 11 44289130 44289130 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:44289130G>T uc001myb.2 - 3 924 c.820C>A c.(820-822)CGT>AGT p.R274S NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 274 hair follicle development 0 TGCCCAAAACGCTCCCGCTTC 0.597 NA 49 31 6.4308e-24 1.23838e-23 0.00361 1 0 LRP4 4038 broad.mit.edu 37 11 46898090 46898090 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:46898090C>A uc001ndn.3 - 25 3609 c.3463G>T c.(3463-3465)GGG>TGG p.G1155W NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1155 Extracellular (Potential).|LDL-receptor class B 12. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CGCATGGACCCGTCCAGGTTG 0.572 NA 62 47 5.82218e-30 1.19305e-29 0.00361 1 0 OR4A16 81327 broad.mit.edu 37 11 55111468 55111468 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55111468C>T uc010rie.1 + 1 792 c.792C>T c.(790-792)CCC>CCT p.P264P NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 CCAACTTTCCCTTTGATAAAT 0.368 NA 10 28 0 0 0.008291 0 0 OR4C15 81309 broad.mit.edu 37 11 55321937 55321937 + Nonsense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55321937T>A uc010rig.1 + 1 155 c.155T>A c.(154-156)TTG>TAG p.L52* NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCTTTTCCTTGGGAAACATG 0.353 NA HNSCC(20;0.049) 80 68 0 0 0.00361 0 0 OR4C15 81309 broad.mit.edu 37 11 55322871 55322871 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55322871T>A uc010rig.1 + 1 1089 c.1089T>A c.(1087-1089)GAT>GAA p.D363E NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGTTTCTGATGAGAAAGAAA 0.318 NA HNSCC(20;0.049) 11 28 0 0 0.000978 0 0 OR4C15 81309 broad.mit.edu 37 11 55322888 55322888 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55322888A>C uc010rig.1 + 1 1106 c.1106A>C c.(1105-1107)AAA>ACA p.K369T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 315 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAAAATATTAAACTTTAAAAA 0.308 NA HNSCC(20;0.049) 7 18 0 0 0.00308 0 0 OR4C11 219429 broad.mit.edu 37 11 55371095 55371095 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55371095C>A uc010rii.1 - 1 755 c.755G>T c.(754-756)TGT>TTT p.C252F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TATGAATATACATGGGCCAAA 0.438 NA 42 5 2.77807e-22 5.3177e-22 0.003214 1 0 OR5D16 390144 broad.mit.edu 37 11 55607040 55607040 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55607040C>T uc010rio.1 + 1 813 c.813C>T c.(811-813)CAC>CAT p.H271H NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) ACTCCAGGCACACAGTCAAAG 0.488 NA 17 45 0 0 0.004007 0 0 OR5F1 338674 broad.mit.edu 37 11 55761952 55761953 + Missense_Mutation DNP CC CC AT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55761952_55761953CC>AT uc010riv.1 - 1 149_150 c.149_150GG>AT c.(148-150)AGG>AAT p.R50N NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GGGAATCGATCCTGATTAAGAG 0.436 NA 12 48 0 0 0.004672 0 0 OR8K5 219453 broad.mit.edu 37 11 55926917 55926917 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:55926917T>C uc010rja.1 - 1 877 c.877A>G c.(877-879)AGA>GGA p.R293G NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TCTTCGTTTCTTAAGCTGTAA 0.299 NA 18 59 0 0 0.006122 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431458 56431459 + Missense_Mutation DNP CC CC AA TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:56431458_56431459CC>AA uc010rjm.1 + 1 297_298 c.297_298CC>AA c.(295-300)ACCCAG>ACAAAG p.Q100K NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTGTGCCACCCAGTTTGCTTT 0.505 NA 79 101 0 0 0.004672 0 0 OR4D11 219986 broad.mit.edu 37 11 59271420 59271420 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:59271420G>T uc001noa.1 + 1 372 c.372G>T c.(370-372)ATG>ATT p.M124I NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACTGCTACATGGCCATCTCCA 0.512 NA 36 108 3.61848e-18 6.5971e-18 0.007835 1 0 MS4A1 931 broad.mit.edu 37 11 60230578 60230578 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:60230578T>A uc001npp.2 + 4 679 c.263T>A c.(262-264)CTC>CAC p.L88H MS4A1_uc009ymy.1_Missense_Mutation_p.L88H|MS4A1_uc001npq.2_Missense_Mutation_p.L88H|MS4A1_uc009yna.2_Missense_Mutation_p.L88H|MS4A1_uc009ymz.2_Missense_Mutation_p.L88H|MS4A1_uc010rlc.1_Intron NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 88 Helical; (Potential). B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TGGTACCCTCTCTGGGGAGGC 0.478 NA 27 82 0 0 0.001786 0 0 FADS3 3995 broad.mit.edu 37 11 61646289 61646289 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:61646289C>A uc001nsm.2 - 4 706 c.553G>T c.(553-555)GGC>TGC p.G185C FADS3_uc001nsn.2_Missense_Mutation_p.G61C NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 185 Cytoplasmic (Potential).|Histidine box-1. electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 GAGGCATGGCCCAGGTCATGC 0.632 NA 21 28 0.000295444 0.000383397 0.002299 1 0 AHNAK 79026 broad.mit.edu 37 11 62292378 62292378 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:62292378C>G uc001ntl.2 - 5 9811 c.9511G>C c.(9511-9513)GAC>CAC p.D3171H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3171 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGGTTCACGTCCACTTCTGGA 0.502 NA 196 167 0 0 0.00361 0 0 SLC22A8 9376 broad.mit.edu 37 11 62766562 62766562 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:62766562C>T uc001nwo.2 - 5 729 c.593_splice c.e5-1 p.N198_splice SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc001nwp.2_Splice_Site_p.N198_splice|SLC22A8_uc009yom.2_Splice_Site_p.N75_splice|SLC22A8_uc010rmm.1_Splice_Site_p.N107_splice|SLC22A8_uc009yon.2_Splice_Site_p.N198_splice NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 CATTCCACATCTGTGGGAGGA 0.607 NA 13 34 0 0 0.001855 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141448 63141448 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:63141448G>A uc001nww.2 + 4 1012 c.744G>A c.(742-744)CTG>CTA p.L248L SLC22A9_uc001nwx.2_RNA NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 248 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 TTATGACCCTGGCAGGCCTGG 0.473 NA 12 40 0 0 0.001368 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359072 64359072 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:64359072G>T uc001oam.1 + 1 791 c.44G>T c.(43-45)AGG>ATG p.R15M SLC22A12_uc009ypr.1_Missense_Mutation_p.R15M|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Missense_Mutation_p.R15M|SLC22A12_uc001oan.1_Missense_Mutation_p.R15M|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 15 Helical; (Potential). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GGCCTGGGCAGGTTCCAGGTT 0.617 NA 8 117 7.48243e-07 1.05369e-06 0.006214 1 0 DPF2 5977 broad.mit.edu 37 11 65111510 65111510 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:65111510G>T uc001odm.2 + 6 619 c.607G>T c.(607-609)GAG>TAG p.E203* DPF2_uc001odn.2_Nonsense_Mutation_p.E203*|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 203 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TTCCATCCTGGAGGACCGGGA 0.567 NA 27 35 2.44723e-14 4.10296e-14 0.004656 1 0 CD248 57124 broad.mit.edu 37 11 66083697 66083697 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:66083697C>A uc001ohm.1 - 1 819 c.802G>T c.(802-804)GGG>TGG p.G268W NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 268 Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CAACTGCGCCCGTCTGCTGCC 0.672 NA 20 17 1.87028e-06 2.59566e-06 0.001882 1 0 POLD4 57804 broad.mit.edu 37 11 67120236 67120236 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:67120236C>G uc001okm.2 - 3 372 c.225G>C c.(223-225)CAG>CAC p.Q75H LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR NM_021173 NP_066996 Q9HCU8 DPOD4_HUMAN DNA-directed DNA polymerase delta 4 75 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA-directed DNA polymerase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(15;3.08e-06) CCAAGCCCATCTGCTTGGCCC 0.652 NA 16 32 0 0 0.007413 0 0 UVRAG 7405 broad.mit.edu 37 11 75562951 75562951 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:75562951C>T uc001oxc.2 + 2 382 c.141C>T c.(139-141)AAC>AAT p.N47N UVRAG_uc010rrw.1_5'UTR NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 47 C2. DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 ATCTTCGGAACATTGCTGCCC 0.373 NA 35 120 0 0 0.00623 0 0 TSKU 25987 broad.mit.edu 37 11 76507537 76507537 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:76507537C>G uc001oxt.2 + 2 1049 c.877C>G c.(877-879)CCC>GCC p.P293A NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 293 LRR 10. extracellular region 0 Ovarian(111;0.112) CAACCTGGTGCCCCTGCCTGA 0.682 NA 27 20 0 0 0.005443 0 0 C11orf82 220042 broad.mit.edu 37 11 82645081 82645081 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:82645081C>A uc001ozt.2 + 6 2945 c.2701C>A c.(2701-2703)CCA>ACA p.P901T C11orf82_uc010rsr.1_Missense_Mutation_p.P600T|C11orf82_uc010rss.1_Missense_Mutation_p.P600T|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 901 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 ACAAGAGTTACCAAGAAAGAA 0.348 NA 18 31 1.56452e-12 2.50899e-12 0.007413 1 0 CHORDC1 26973 broad.mit.edu 37 11 89935706 89935706 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:89935706T>A uc001pdg.2 - 11 1276 c.866A>T c.(865-867)AAG>ATG p.K289M CHORDC1_uc009yvz.2_Missense_Mutation_p.K270M NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 289 Interaction with HSP90AA1 and HSP90AB1 (By similarity).|CS. chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) ATAACTTCGCTTTACATCAAT 0.383 NA 16 12 0 0 0.004007 0 0 FAT3 120114 broad.mit.edu 37 11 92533544 92533545 + Missense_Mutation DNP CC CC AA TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92533544_92533545CC>AA uc001pdj.3 + 9 7382_7383 c.7365_7366CC>AA c.(7363-7368)AACCAT>AAAAAT p.2455_2456NH>KN NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2455_2456 Cadherin 22.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CATTGTCCAACCATCGGAAGCA 0.49 NA TCGA Ovarian(4;0.039) 34 33 0 0 0.004672 0 0 FAT3 120114 broad.mit.edu 37 11 92577505 92577505 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92577505C>G uc001pdj.3 + 18 10989 c.10972C>G c.(10972-10974)CCT>GCT p.P3658A FAT3_uc001pdi.3_Missense_Mutation_p.P98A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3658 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAATGTGTCCCCTGAGGACTT 0.572 NA TCGA Ovarian(4;0.039) 25 55 0 0 0.003954 0 0 FAT3 120114 broad.mit.edu 37 11 92577662 92577662 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92577662G>T uc001pdj.3 + 18 11146 c.11129G>T c.(11128-11130)AGC>ATC p.S3710I FAT3_uc001pdi.3_Missense_Mutation_p.S150I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3710 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGCACAGCAGCGAGTTCTAC 0.552 NA TCGA Ovarian(4;0.039) 6 18 1.6384e-10 2.54244e-10 0.001984 1 0 FAT3 120114 broad.mit.edu 37 11 92615986 92615986 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92615986T>A uc001pdj.3 + 23 12381 c.12364T>A c.(12364-12366)TGC>AGC p.C4122S FAT3_uc001pdi.3_Missense_Mutation_p.C562S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4122 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCTTCCTCTGCAACTGCAC 0.627 NA TCGA Ovarian(4;0.039) 5 11 0 0 0.000602 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715175 92715175 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:92715175C>A uc001pdk.1 + 2 889 c.786C>A c.(784-786)ATC>ATA p.I262I NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 262 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TCTTTGCCATCTGCTGGGCTC 0.557 NA 28 101 7.01153e-11 1.09334e-10 0.007291 1 0 AMOTL1 154810 broad.mit.edu 37 11 94602564 94602564 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:94602564G>T uc001pfb.2 + 12 2860 c.2690G>T c.(2689-2691)GGC>GTC p.G897V AMOTL1_uc001pfc.2_Missense_Mutation_p.G847V NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 897 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCCAGCCGCGGCCGGCTGAGC 0.642 NA 9 3 0.000442599 0.000570501 0.006214 1 0 ANGPTL5 253935 broad.mit.edu 37 11 101776570 101776570 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:101776570G>C uc001pgl.2 - 4 846 c.250C>G c.(250-252)CAA>GAA p.Q84E NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 84 signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) ATAGAATTTTGCAAATTTCCT 0.279 NA 10 38 0 0 0.006214 0 0 CASP1 834 broad.mit.edu 37 11 104897037 104897037 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:104897037G>T uc010rve.1 - 9 1180 c.1163C>A c.(1162-1164)ACC>AAC p.T388N CASP1_uc001pig.2_Missense_Mutation_p.T295N|CASP1_uc001pik.2_Missense_Mutation_p.T351N|CASP1_uc010rvf.1_Missense_Mutation_p.T295N|CASP1_uc010rvg.1_Missense_Mutation_p.T367N|CASP1_uc010rvh.1_Missense_Mutation_p.T247N|CASP1_uc010rvi.1_Missense_Mutation_p.T72N|CASP1_uc001pim.3_Missense_Mutation_p.T388N|CASP1_uc009yxi.2_Missense_Mutation_p.T367N|CASP1_uc010rvj.1_Missense_Mutation_p.T388N NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 388 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCTTTCAGTGGTGGGCATCTG 0.408 NSCLC(41;1246 1743 4934) NA 11 69 9.31168e-06 1.26129e-05 0.001855 1 0 GRIA4 2893 broad.mit.edu 37 11 105789637 105789637 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:105789637T>A uc001pix.2 + 11 1915 c.1469T>A c.(1468-1470)GTT>GAT p.V490D GRIA4_uc001piw.2_Missense_Mutation_p.V490D NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 490 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GGAGAACTTGTTTATGGGGTA 0.353 NA 11 65 0 0 0.000978 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810228 106810228 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:106810228A>G uc001pjg.1 - 4 1554 c.1164T>C c.(1162-1164)ATT>ATC p.I388I GUCY1A2_uc010rvo.1_Silent_p.I388I|GUCY1A2_uc009yxn.1_Silent_p.I388I NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 388 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GCTTGGTTCTAATCACAAACG 0.443 NA 35 114 0 0 0.003755 0 0 EXPH5 23086 broad.mit.edu 37 11 108412428 108412428 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:108412428C>G uc001pkk.2 - 2 342 c.231G>C c.(229-231)ATG>ATC p.M77I EXPH5_uc010rwa.1_Missense_Mutation_p.M1I NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 77 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTTGTTTTAACATTTGGCTAA 0.338 NA 20 53 0 0 0.008871 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110561301 110561301 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:110561301C>G uc001pkz.1 - 3 442 c.157G>C c.(157-159)GAT>CAT p.D53H ARHGAP20_uc001pky.1_Missense_Mutation_p.D30H|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D17H|ARHGAP20_uc001pla.1_Missense_Mutation_p.D17H NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 53 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AGGGCTTTATCCAGGATAAGA 0.398 NA 24 56 0 0 0.00278 0 0 C11orf53 341032 broad.mit.edu 37 11 111156507 111156507 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:111156507C>A uc001plc.2 + 4 586 c.439C>A c.(439-441)CAC>AAC p.H147N NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 147 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CATCGCCCAGCACAGGGGCTC 0.652 NA 16 61 0.00316338 0.00398121 0.003163 1 0 ALG9 79796 broad.mit.edu 37 11 111709015 111709015 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:111709015C>A uc001pmb.2 - 12 1359 c.1260G>T c.(1258-1260)CTG>CTT p.L420L ALG9_uc001ply.2_Silent_p.L249L|ALG9_uc001plz.2_Silent_p.L256L|ALG9_uc010rwm.1_Silent_p.L427L|ALG9_uc010rwn.1_Silent_p.L374L|ALG9_uc010rwo.1_Silent_p.L248L|ALG9_uc009yyh.1_Silent_p.L315L NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 420 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) AGAGCCCAAACAGGAAGACAG 0.428 NA 22 19 1.28384e-07 1.84865e-07 0.001882 1 0 TTC12 54970 broad.mit.edu 37 11 113234595 113234595 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113234595A>C uc001pnu.2 + 20 1867 c.1762A>C c.(1762-1764)ATC>CTC p.I588L TTC12_uc001pnv.2_Missense_Mutation_p.I594L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.I438L NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 588 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GATACTAGCTATCTGCACGAA 0.383 NA 14 34 0 0 0.004007 0 0 USP28 57646 broad.mit.edu 37 11 113673938 113673938 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113673938C>A uc001poh.2 - 23 2837 c.2804G>T c.(2803-2805)GGG>GTG p.G935V USP28_uc001pog.2_Missense_Mutation_p.G611V|USP28_uc010rwy.1_Missense_Mutation_p.G778V|USP28_uc001poi.2_Missense_Mutation_p.G258V NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 935 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCGGCGGGGCCCCTTCATCAG 0.458 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 17 60 2.35188e-11 3.72802e-11 0.006122 1 0 ZBTB16 7704 broad.mit.edu 37 11 113934619 113934619 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:113934619C>A uc001pop.2 + 2 861 c.597C>A c.(595-597)ACC>ACA p.T199T ZBTB16_uc001poo.1_Silent_p.T199T|ZBTB16_uc001poq.2_Silent_p.T199T NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 199 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGAGTCCCACCAAGGCTGCAG 0.597 NA 15 40 3.27435e-08 4.75773e-08 0.00245 1 0 FAM55D 54827 broad.mit.edu 37 11 114453455 114453455 + Missense_Mutation SNP G G A rs111330181 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:114453455G>A uc001ppc.2 - 3 566 c.385C>T c.(385-387)CGC>TGC p.R129C FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 129 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TGCTTCCTGCGTCCCAAGTGG 0.587 NA 15 35 0 0 0.004007 0 0 AMICA1 120425 broad.mit.edu 37 11 118081387 118081387 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:118081387G>A uc001psk.2 - 4 413 c.239C>T c.(238-240)CCT>CTT p.P80L AMICA1_uc001psh.2_Missense_Mutation_p.P41L|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.P70L|AMICA1_uc001psj.2_Missense_Mutation_p.P80L|AMICA1_uc010rxw.1_Missense_Mutation_p.P41L|AMICA1_uc010rxx.1_Missense_Mutation_p.P80L|AMICA1_uc001psl.1_Missense_Mutation_p.P36L NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 80 Ig-like V-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCGCCCAATAGGCACACTGAG 0.507 NA 64 48 0 0 0.00361 0 0 TMEM136 219902 broad.mit.edu 37 11 120198194 120198194 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:120198194G>T uc001pxh.1 + 2 107 c.44G>T c.(43-45)GGC>GTC p.G15V TMEM136_uc001pxg.2_Missense_Mutation_p.G37V|TMEM136_uc010rzm.1_Missense_Mutation_p.G15V|TMEM136_uc001pxj.2_Missense_Mutation_p.G37V|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_Intron NM_174926 NP_777586 Q6ZRR5 TM136_HUMAN transmembrane protein 136 15 Helical; (Potential). integral to membrane ovary(1) 1 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) AGCCTGTGTGGCTGGCTCTCG 0.498 NA 23 36 3.62473e-10 5.59761e-10 0.001882 1 0 TECTA 7007 broad.mit.edu 37 11 120989334 120989334 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:120989334C>T uc010rzo.1 + 6 1110 c.1110C>T c.(1108-1110)CGC>CGT p.R370R NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 370 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATGAACACCGCAGAGGTTCAG 0.542 NA 32 82 0 0 0.002096 0 0 TECTA 7007 broad.mit.edu 37 11 121038900 121038900 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:121038900G>T uc010rzo.1 + 18 5724 c.5724G>T c.(5722-5724)TTG>TTT p.L1908F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1908 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGATCTCCTTGGATTCTGTTG 0.443 NA 44 111 4.75955e-12 7.5695e-12 0.00361 1 0 SORL1 6653 broad.mit.edu 37 11 121477927 121477927 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:121477927G>T uc001pxx.2 + 37 5174 c.5094G>T c.(5092-5094)TGG>TGT p.W1698C SORL1_uc010rzp.1_Missense_Mutation_p.W544C|SORL1_uc010rzq.1_Missense_Mutation_p.W313C NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1698 Extracellular (Potential).|Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAAGATGTGGGCCTCCCAGA 0.448 NA 16 12 4.35082e-09 6.52963e-09 0.001523 1 0 OR6T1 219874 broad.mit.edu 37 11 123813682 123813682 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:123813682G>A uc010sab.1 - 1 864 c.864C>T c.(862-864)TTC>TTT p.F288F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGTGAAGATGAATGGGTTCA 0.517 NA 34 119 0 0 0.004878 0 0 OR6T1 219874 broad.mit.edu 37 11 123813927 123813927 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:123813927A>C uc010sab.1 - 1 619 c.619T>G c.(619-621)TTA>GTA p.L207V NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGCCCAGTAACACCAACGTA 0.532 NA 13 33 0 0 0.001368 0 0 BARX2 8538 broad.mit.edu 37 11 129306860 129306860 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr11:129306860C>A uc001qfc.3 + 2 452 c.402C>A c.(400-402)CGC>CGA p.R134R NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 134 Homeobox. 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) AGAAGCCCCGCCGGAGTCGCA 0.632 NA 15 10 0.000422831 0.000547227 0.004007 1 0 SLC6A13 6540 broad.mit.edu 37 12 369210 369210 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:369210G>C uc001qic.1 - 2 62 c.9C>G c.(7-9)AGC>AGG p.S3R SLC6A13_uc009zdj.1_Missense_Mutation_p.S3R|SLC6A13_uc010sdl.1_Missense_Mutation_p.S3R|SLC6A13_uc001qid.1_Missense_Mutation_p.S3R NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 3 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CTGAGACCCTGCTATCCATCC 0.512 NA 30 141 0 0 0.008361 0 0 CACNA1C 775 broad.mit.edu 37 12 2602428 2602428 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:2602428C>T uc009zdu.1 + 7 1302 c.989C>T c.(988-990)ACG>ATG p.T330M CACNA1C_uc009zdv.1_Missense_Mutation_p.T327M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T330M|CACNA1C_uc001qke.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T330M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T330M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T330M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T330M|CACNA1C_uc001qko.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T330M|CACNA1C_uc001qku.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T330M|CACNA1C_uc001qks.2_Missense_Mutation_p.T330M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T330M|CACNA1C_uc001qka.1_Translation_Start_Site|CACNA1C_uc001qki.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T66M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T66M NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 330 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAGAACGGCACGGTGTGCAAG 0.587 NA 43 74 0 0 0.002222 0 0 AKAP3 10566 broad.mit.edu 37 12 4736204 4736204 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:4736204C>A uc001qnb.3 - 4 2093 c.1864G>T c.(1864-1866)GTT>TTT p.V622F NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 622 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TCTTCCTTAACTGGCTGTTCC 0.502 NA 46 8 5.20006e-24 1.00745e-23 0.002852 1 0 CD163L1 283316 broad.mit.edu 37 12 7559354 7559354 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:7559354G>T uc001qsy.2 - 5 887 c.861C>A c.(859-861)TGC>TGA p.C287* CD163L1_uc010sge.1_Nonsense_Mutation_p.C297* NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 287 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ACTTATGGTGGCATACGGTCC 0.498 NA 53 69 5.22555e-25 1.02063e-24 0.00361 1 0 TAS2R42 353164 broad.mit.edu 37 12 11338969 11338969 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:11338969G>T uc001qzr.1 - 1 575 c.575C>A c.(574-576)CCC>CAC p.P192H PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 192 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) CAGAGAAAAGGGGATAAAACT 0.348 Melanoma(15;352 722 10077 19546 48810) NA 32 44 2.85442e-18 5.23401e-18 0.002096 1 0 PTPRO 5800 broad.mit.edu 37 12 15637129 15637129 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:15637129G>T uc001rcv.1 + 2 471 c.297G>T c.(295-297)GTG>GTT p.V99V PTPRO_uc001rcw.1_Silent_p.V99V|PTPRO_uc001rcu.1_Silent_p.V99V NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 99 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CTCTGGTAGTGGTAAATGGAA 0.383 NA 18 7 9.16793e-09 1.35262e-08 0.00499 1 0 CAPZA3 93661 broad.mit.edu 37 12 18891912 18891912 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:18891912A>T uc001rdy.2 + 1 868 c.710A>T c.(709-711)CAA>CTA p.Q237L PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 237 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AACAAATTTCAAGCTGCAGTC 0.428 NA 20 50 0 0 0.008871 0 0 GYS2 2998 broad.mit.edu 37 12 21695501 21695501 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:21695501G>T uc001rfb.2 - 13 1829 c.1574C>A c.(1573-1575)CCC>CAC p.P525H NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 525 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GGTCACACTGGGGATACCCAT 0.517 Colon(149;9 1820 3690 10544 50424) NA 30 44 4.22769e-11 6.63561e-11 0.00632 1 0 SOX5 6660 broad.mit.edu 37 12 23728774 23728774 + Splice_Site SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:23728774T>A uc001rfw.2 - 10 1267 c.1165_splice c.e10-1 p.D389_splice SOX5_uc001rfx.2_Splice_Site_p.D376_splice|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Splice_Site_p.D3_splice|SOX5_uc010siv.1_Splice_Site_p.D376_splice|SOX5_uc010siw.1_Splice_Site|SOX5_uc001rfz.1_Splice_Site_p.D341_splice NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CACTTCATCCTGCAATGATCA 0.453 NA 14 43 0 0 0.00245 0 0 OVCH1 341350 broad.mit.edu 37 12 29642559 29642559 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:29642559G>C uc001rix.1 - 6 696 c.696C>G c.(694-696)GCC>GCG p.A232A NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 232 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTACCTGGCAGGCGTCCATTC 0.493 NA 8 8 0 0 0.004482 0 0 CNTN1 1272 broad.mit.edu 37 12 41323651 41323651 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:41323651G>T uc001rmm.1 + 7 663 c.550G>T c.(550-552)GAT>TAT p.D184Y CNTN1_uc009zjy.1_Missense_Mutation_p.D184Y|CNTN1_uc001rmn.1_Missense_Mutation_p.D173Y|CNTN1_uc001rmo.2_Missense_Mutation_p.D184Y NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 184 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TATCACAATGGATAAACGGCG 0.383 NA 29 82 4.87955e-14 8.0542e-14 0.005443 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43833464 43833464 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:43833464G>T uc010skx.1 - 18 2554 c.2554C>A c.(2554-2556)CCC>ACC p.P852T ADAMTS20_uc001rno.1_Missense_Mutation_p.P6T|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P6T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 852 TSP type-1 2. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGTCCATAGGGGTCCCATGTG 0.433 NA 37 62 2.40579e-17 4.33676e-17 0.00623 1 0 FAM113B 91523 broad.mit.edu 37 12 47629611 47629611 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:47629611G>A uc001rpn.2 + 4 1496 c.765G>A c.(763-765)GAG>GAA p.E255E FAM113B_uc010slj.1_Silent_p.E135E|FAM113B_uc001rpq.2_Silent_p.E255E NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 255 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) GGGGTGTGGAGCTGCCCCACC 0.627 NA 4 8 0 0 0.000248 0 0 DNAJC22 79962 broad.mit.edu 37 12 49743390 49743390 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:49743390A>G uc001rua.2 + 2 1136 c.735A>G c.(733-735)CTA>CTG p.L245L DNAJC22_uc001rub.2_Silent_p.L245L NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 245 protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 TCTGGAGGCTACTGATGGGGG 0.522 NA 68 100 0 0 0.00361 0 0 SCN8A 6334 broad.mit.edu 37 12 52159490 52159490 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:52159490C>A uc001ryw.2 + 16 2758 c.2580C>A c.(2578-2580)ACC>ACA p.T860T SCN8A_uc010snl.1_Silent_p.T725T|SCN8A_uc001ryy.2_Silent_p.T725T NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 860 Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTGGCCCACCCTGAACATGC 0.438 NA 14 20 2.32078e-09 3.51601e-09 0.003163 1 0 ACVR1B 91 broad.mit.edu 37 12 52370313 52370313 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:52370313G>A uc001rzn.2 + 3 576 c.534G>A c.(532-534)ACG>ACA p.T178T ACVR1B_uc001rzl.2_Silent_p.T178T|ACVR1B_uc001rzm.2_Silent_p.T178T|ACVR1B_uc010snn.1_Silent_p.T178T NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 178 Cytoplasmic (Potential).|GS. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AAGACAAGACGCTCCAGGATC 0.488 NA 56 82 0 0 0.00361 0 0 KRT1 3848 broad.mit.edu 37 12 53070126 53070126 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:53070126T>G uc001sau.1 - 7 1467 c.1408A>C c.(1408-1410)AAC>CAC p.N470H KRT1_uc001sav.1_Missense_Mutation_p.N470H NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 470 Rod.|Coil 2. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 AGCTTTGTGTTCATCAGCTCC 0.592 NA 10 52 0 0 0.006214 0 0 ESPL1 9700 broad.mit.edu 37 12 53663153 53663153 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:53663153G>A uc001sck.2 + 3 518 c.427G>A c.(427-429)GTG>ATG p.V143M ESPL1_uc001scj.2_Translation_Start_Site NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 143 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CTATGAGGCCGTGGCTCGGGG 0.622 Colon(53;1069 1201 2587 5382) NA 33 60 0 0 0.002836 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54928933 54928933 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:54928933T>A uc001sgc.3 + 27 2987 c.2908T>A c.(2908-2910)TGT>AGT p.C970S NCKAP1L_uc010sox.1_Missense_Mutation_p.C512S|NCKAP1L_uc010soy.1_Missense_Mutation_p.C920S NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 970 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 AGGTGTGGGCTGTGACATTGA 0.507 NA 32 52 0 0 0.004878 0 0 LRP1 4035 broad.mit.edu 37 12 57573738 57573738 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57573738G>T uc001snd.2 + 30 5606 c.5140G>T c.(5140-5142)GGG>TGG p.G1714W NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1714 LDL-receptor class B 15.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCTCTGCGTGGGTCAGTCTA 0.637 NA 49 76 1.86633e-21 3.55122e-21 0.00361 1 0 KIF5A 3798 broad.mit.edu 37 12 57966495 57966495 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57966495G>A uc001sor.1 + 15 1910 c.1702G>A c.(1702-1704)GGG>AGG p.G568R KIF5A_uc010srr.1_Missense_Mutation_p.G479R NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 568 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TGTGGGCAACGGGGAGATTAA 0.547 NA 48 90 0 0 0.00361 0 0 KIF5A 3798 broad.mit.edu 37 12 57970645 57970645 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:57970645C>A uc001sor.1 + 20 2508 c.2300C>A c.(2299-2301)ACA>AAA p.T767K KIF5A_uc010srr.1_Missense_Mutation_p.T678K NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 767 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CAGGAGCTGACGTGAGTGGCA 0.493 NA 15 23 0.000308642 0.000399983 0.003163 1 0 AGAP2 116986 broad.mit.edu 37 12 58124303 58124303 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:58124303C>G uc001spq.2 - 12 2403 c.2403G>C c.(2401-2403)CGG>CGC p.R801R AGAP2_uc001spp.2_Silent_p.R800R|AGAP2_uc001spr.2_Silent_p.R465R NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 801 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 GGGCCAAATTCCGGTCTGGCT 0.572 NA 128 195 0 0 0.00361 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158323 58158323 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:58158323G>C uc001spz.1 - 6 1126 c.974C>G c.(973-975)ACG>AGG p.T325R CYP27B1_uc001sqa.1_Missense_Mutation_p.T90R|CYP27B1_uc001sqb.1_Missense_Mutation_p.H205Q|CYP27B1_uc001sqc.1_3'UTR NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 325 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCAAGAGAGCGTGTTGGACAC 0.567 NA 5 136 0 0 0.000602 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041112 64041112 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:64041112C>G uc001srp.1 - 5 803 c.622G>C c.(622-624)GGA>CGA p.G208R DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 208 Helical; (Potential). multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCATTATTCCCATGAATGTG 0.318 NA 55 58 0 0 0.00361 0 0 CAND1 55832 broad.mit.edu 37 12 67688923 67688923 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:67688923G>A uc001stn.2 + 4 915 c.478G>A c.(478-480)GAT>AAT p.D160N NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 160 HEAT 4. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TATTATGGCTGATATGTTGAG 0.343 NA 7 55 0 0 0.001984 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80189444 80189444 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:80189444T>C uc001syz.2 - 18 2824 c.2557A>G c.(2557-2559)ACA>GCA p.T853A PPP1R12A_uc010suc.1_Missense_Mutation_p.T766A|PPP1R12A_uc001sza.2_Missense_Mutation_p.T797A|PPP1R12A_uc010sud.1_Missense_Mutation_p.T853A|PPP1R12A_uc001szb.2_Missense_Mutation_p.T853A NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 853 Interaction with ROCK2. contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 GAAACTCCTGTAGATCTTCTT 0.224 NA 77 76 0 0 0.00361 0 0 PPFIA2 8499 broad.mit.edu 37 12 81777829 81777829 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:81777829G>T uc001szo.1 - 9 1118 c.957C>A c.(955-957)AAC>AAA p.N319K PPFIA2_uc010sue.1_Missense_Mutation_p.N219K|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 245 ovary(3)|lung(2)|pancreas(1) 6 GATACTTGGTGTTCATTTCTT 0.423 NA 11 18 2.80697e-09 4.23919e-09 0.000978 1 0 TRPV4 59341 broad.mit.edu 37 12 110230574 110230574 + Silent SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:110230574T>G uc001tpj.1 - 10 1802 c.1707A>C c.(1705-1707)GCA>GCC p.A569A TRPV4_uc001tpg.1_Silent_p.A535A|TRPV4_uc001tph.1_Silent_p.A522A|TRPV4_uc001tpi.1_Silent_p.A462A|TRPV4_uc001tpk.1_Silent_p.A569A|TRPV4_uc001tpl.1_Silent_p.A509A NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 569 Helical; (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CCTCGATCCCTGCCAGGTAGA 0.587 NA 10 33 0 0 0.006214 0 0 CUX2 23316 broad.mit.edu 37 12 111748231 111748231 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:111748231G>T uc001tsa.1 + 15 1798 c.1645G>T c.(1645-1647)GAG>TAG p.E549* NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 549 CUT 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCCCGGGGCAGAGGAGGAGCA 0.711 NA 8 8 7.48243e-07 1.05369e-06 0.006214 1 0 PTPN11 5781 broad.mit.edu 37 12 112915664 112915664 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:112915664G>T uc001ttx.2 + 9 1317 c.937G>T c.(937-939)GAA>TAA p.E313* PTPN11_uc001ttw.1_Nonsense_Mutation_p.E313* NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 313 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 TTTCTAGCCTGAATTTGAAAC 0.378 NA Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 18 23 3.99206e-14 6.63498e-14 0.007413 1 0 IQCD 115811 broad.mit.edu 37 12 113645859 113645859 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:113645859A>G uc001tuv.1 - 2 535 c.113T>C c.(112-114)GTT>GCT p.V38A IQCD_uc001tuu.2_Missense_Mutation_p.V38A NM_138451 NP_612460 Q96DY2 IQCD_HUMAN IQ motif containing D 38 ovary(1) 1 CCTAGAGAGAACCAAGGGTTT 0.512 NA 67 143 0 0 0.00361 0 0 NOS1 4842 broad.mit.edu 37 12 117768862 117768862 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:117768862T>C uc001twm.1 - 2 699 c.13A>G c.(13-15)ATG>GTG p.M5V NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 5 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACACCGAACATGTGATCCTCC 0.517 Esophageal Squamous(162;1748 2599 51982 52956) NA 32 69 0 0 0.005524 0 0 CIT 11113 broad.mit.edu 37 12 120295395 120295395 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:120295395C>A uc001txi.1 - 4 399 c.346G>T c.(346-348)GAG>TAG p.E116* CIT_uc001txj.1_Nonsense_Mutation_p.E116* NM_007174 NP_009105 O14578 CTRO_HUMAN citron 116 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GTTGCTTTCTCTCTTACCACC 0.473 NA 55 156 2.22609e-26 4.43829e-26 0.00361 1 0 WDR66 144406 broad.mit.edu 37 12 122395035 122395035 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:122395035T>C uc009zxk.2 + 11 1733 c.1591T>C c.(1591-1593)TCT>CCT p.S531P NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 531 WD 5. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCACACCCTGTCTATTGTTAA 0.388 Esophageal Squamous(85;849 1794 49757 52143) NA 46 34 0 0 0.00361 0 0 LRRC43 254050 broad.mit.edu 37 12 122676103 122676103 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:122676103G>A uc009zxm.2 + 6 1103 c.1078G>A c.(1078-1080)GTC>ATC p.V360I LRRC43_uc001ubw.3_Missense_Mutation_p.V175I|LRRC43_uc009zxn.2_Missense_Mutation_p.V121I NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 360 Glu-rich. 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) GTCCGCGGGCGTCCTGGCCGA 0.517 NA OREG0022219 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 47 0 0 0.00333 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184559 130184559 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:130184559C>A uc009zyl.1 - 2 1092 c.764G>T c.(763-765)AGT>ATT p.S255I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 255 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCGATGTCACTGTGGCCTGT 0.602 NA 13 56 0.000219431 0.000285917 0.00245 1 0 GPR133 283383 broad.mit.edu 37 12 131456050 131456050 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:131456050A>G uc001uit.3 + 4 794 c.235A>G c.(235-237)AAG>GAG p.K79E GPR133_uc010tbm.1_Missense_Mutation_p.K111E NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 79 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAAAGAGGAAAAGGGAGTCAC 0.463 NA 4 44 0 0 0.001168 0 0 ZNF268 10795 broad.mit.edu 37 12 133779036 133779036 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:133779036G>T uc010tcf.1 + 6 1094 c.764G>T c.(763-765)GGA>GTA p.G255V ZNF268_uc010tbv.1_Missense_Mutation_p.G94V|ZNF268_uc010tbw.1_Missense_Mutation_p.G94V|ZNF268_uc010tbx.1_Missense_Mutation_p.G115V|ZNF268_uc010tby.1_Missense_Mutation_p.G94V|ZNF268_uc010tbz.1_Missense_Mutation_p.G94V|ZNF268_uc010tca.1_Missense_Mutation_p.G94V|ZNF268_uc010tcb.1_Missense_Mutation_p.G115V|ZNF268_uc010tcc.1_Missense_Mutation_p.G94V|ZNF268_uc010tcd.1_Missense_Mutation_p.G94V|ZNF268_uc010tce.1_Missense_Mutation_p.G94V|ZNF268_uc010tcg.1_Missense_Mutation_p.G94V|ZNF268_uc010tch.1_Missense_Mutation_p.G255V NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 255 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) ATTGAATCTGGAAAAACCGTC 0.368 NA 6 10 0.00198382 0.00250656 0.001984 1 0 TUBA3C 7278 broad.mit.edu 37 13 19748237 19748237 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:19748237C>A uc009zzj.2 - 5 1168 c.1119G>T c.(1117-1119)CGG>CGT p.R373R NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 373 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGCACACAGCCCGCTGCACCT 0.602 NA 55 11 4.1673e-28 8.41357e-28 0.00361 1 0 WASF3 10810 broad.mit.edu 37 13 27256877 27256877 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:27256877G>T uc001uqv.2 + 9 1342 c.1117G>T c.(1117-1119)GCA>TCA p.A373S WASF3_uc001uqw.2_Missense_Mutation_p.A370S NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 373 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCCGTTCCCTGCATCAGCCAG 0.697 NA 75 15 3.83446e-41 8.17165e-41 0.00361 1 0 BRCA2 675 broad.mit.edu 37 13 32913428 32913428 + Missense_Mutation SNP G G C rs80359473 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:32913428G>C uc001uub.1 + 11 5163 c.4936G>C c.(4936-4938)GAA>CAA p.E1646Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1646 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTAGAAAAAGAAACAGCAAA 0.303 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 3 38 0 0 0.004672 0 0 TRPC4 7223 broad.mit.edu 37 13 38213192 38213192 + Silent SNP G G T rs116527482 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:38213192G>T uc001uws.2 - 10 2431 c.2196C>A c.(2194-2196)ACC>ACA p.T732T TRPC4_uc010abv.2_Silent_p.T312T|TRPC4_uc001uwt.2_Silent_p.T732T|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.T559T|TRPC4_uc010abx.2_Silent_p.T737T|TRPC4_uc010aby.2_Silent_p.T667T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 732 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGTTCTCTTCGGTCAGGCCTT 0.398 NA 100 33 3.52173e-36 7.39023e-36 0.00361 1 0 FREM2 341640 broad.mit.edu 37 13 39263534 39263534 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:39263534G>T uc001uwv.2 + 1 2362 c.2053G>T c.(2053-2055)GGG>TGG p.G685W NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 685 CSPG 4.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAATCAGTCCGGGCTACAGCG 0.557 NA 44 16 1.57945e-13 2.58923e-13 0.002852 1 0 PCDH17 27253 broad.mit.edu 37 13 58240920 58240920 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:58240920C>A uc001vhq.1 + 3 3642 c.2750C>A c.(2749-2751)GCA>GAA p.A917E PCDH17_uc010aec.1_Missense_Mutation_p.A916E|PCDH17_uc001vhr.1_Missense_Mutation_p.A6E NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 917 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GTTAGGGAGGCACTCAAGATG 0.463 Melanoma(72;952 1291 1619 12849 33676) NA 14 27 0.00244969 0.00309113 0.00245 1 0 DIAPH3 81624 broad.mit.edu 37 13 60616906 60616906 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:60616906C>A uc001vht.2 - 5 763 c.544G>T c.(544-546)GAG>TAG p.E182* DIAPH3_uc001vhw.1_Nonsense_Mutation_p.E171*|DIAPH3_uc010aed.1_Nonsense_Mutation_p.E136*|DIAPH3_uc010aee.1_Nonsense_Mutation_p.E112*|uc001vhx.2_RNA NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 182 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATTTTCAGCTCATGAATGAAT 0.408 NA 9 34 7.48243e-07 1.05369e-06 0.006214 1 0 POU4F1 5457 broad.mit.edu 37 13 79177363 79177363 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:79177363C>A uc001vkv.2 - 1 333 c.99G>T c.(97-99)CGG>CGT p.R33R uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 33 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GGCAGGCCCGCCGGATGGCCT 0.522 Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351) NA 8 12 1.06961e-07 1.54482e-07 0.00308 1 0 POU4F1 5457 broad.mit.edu 37 13 79177376 79177376 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:79177376G>A uc001vkv.2 - 1 320 c.86C>T c.(85-87)TCC>TTC p.S29F uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 29 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GATGGCCTCGGAGCTGGAGTG 0.522 Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351) NA 14 14 0 0 0.003163 0 0 TPP2 7174 broad.mit.edu 37 13 103249310 103249310 + Translation_Start_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:103249310G>T uc001vpi.3 + 1 25 c.-78G>T c.(-80--76)GAGGC>GATGC NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCGGCCCGAGGCCGCACGGG 0.711 NA 6 3 3.59834e-05 4.77951e-05 0.001168 1 0 TMCO3 55002 broad.mit.edu 37 13 114154387 114154387 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:114154387G>A uc001vtu.3 + 4 1100 c.739G>A c.(739-741)GAC>AAC p.D247N TMCO3_uc001vtt.3_Missense_Mutation_p.D247N NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 247 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CATGCTGATTGACTCCCAGAA 0.453 NA 18 37 0 0 0.00499 0 0 ZNF828 283489 broad.mit.edu 37 13 115091622 115091622 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr13:115091622C>T uc010ahb.2 + 3 2634 c.2305C>T c.(2305-2307)CGT>TGT p.R769C ZNF828_uc001vuv.2_Missense_Mutation_p.R769C|ZNF828_uc010tko.1_Missense_Mutation_p.R769C NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 769 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) TAAATGTCCACGTTGTAATTT 0.363 NA 28 22 0 0 0.004656 0 0 OR4L1 122742 broad.mit.edu 37 14 20528618 20528618 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20528618A>T uc001vwn.1 + 1 415 c.415A>T c.(415-417)AAG>TAG p.K139* NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CATGAGCCACAAGCTGCTAAA 0.423 NA 21 99 0 0 0.001523 0 0 OR4N5 390437 broad.mit.edu 37 14 20612807 20612807 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20612807C>A uc010tla.1 + 1 913 c.913C>A c.(913-915)CAT>AAT p.H305N NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GTTAAGTCAACATATGTTTTG 0.363 NA 53 26 6.18754e-15 1.0521e-14 0.00361 1 0 OR11H6 122748 broad.mit.edu 37 14 20692796 20692796 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:20692796C>T uc010tlc.1 + 1 928 c.928C>T c.(928-930)CTT>TTT p.L310F NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 310 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATCTATAGTCTTCGAAACAA 0.418 NA 102 40 0 0 0.00361 0 0 RNASE11 122651 broad.mit.edu 37 14 21052362 21052362 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:21052362G>T uc010ahv.2 - 2 457 c.272C>A c.(271-273)TCG>TAG p.S91* RNASE11_uc010ahx.2_Nonsense_Mutation_p.S91*|RNASE11_uc010ahw.2_Nonsense_Mutation_p.S91*|RNASE11_uc001vxs.2_Nonsense_Mutation_p.S91* NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 91 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GTCATTACCCGAACTGTTTCC 0.418 NA 123 61 2.79849e-55 6.0856e-55 0.00361 1 0 RAB2B 84932 broad.mit.edu 37 14 21930549 21930549 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:21930549T>G uc010tlt.1 - 7 604 c.503A>C c.(502-504)TAT>TCT p.Y168S RAB2B_uc010tls.1_Missense_Mutation_p.Y122S|RAB2B_uc001wax.2_Missense_Mutation_p.Y103S|RAB2B_uc010ain.2_Missense_Mutation_p.Y59S NM_032846 NP_116235 Q8WUD1 RAB2B_HUMAN RAB2B protein isoform 1 168 Y -> H (in Ref. 1; AAN86142). protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding ovary(1) 1 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) GATCTTCCTATATATTTCTTT 0.383 Melanoma(131;1007 1750 28652 34486 42672) NA 36 86 0 0 0.007835 0 0 PRMT5 10419 broad.mit.edu 37 14 23390185 23390185 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:23390185C>A uc001whm.1 - 17 1933 c.1842G>T c.(1840-1842)GAG>GAT p.E614D RBM23_uc001whh.2_5'Flank|RBM23_uc001whg.2_5'Flank|RBM23_uc001whi.2_5'Flank|RBM23_uc010tne.1_5'Flank|RBM23_uc001whj.2_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.E597D|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.E508D|PRMT5_uc010tng.1_Missense_Mutation_p.E553D|PRMT5_uc010tnh.1_Missense_Mutation_p.E570D|PRMT5_uc001whn.1_Missense_Mutation_p.E443D NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 614 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCACAGCCCACTCATACCACA 0.527 NA 17 56 9.16793e-09 1.35262e-08 0.00499 1 0 CTSG 1511 broad.mit.edu 37 14 25042852 25042852 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:25042852G>T uc001wpq.2 - 5 796 c.759C>A c.(757-759)ACC>ACA p.T253T NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 253 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) GTCACAGGGGGGTCTCCATCT 0.502 NA 153 84 5.63807e-81 1.24012e-80 0.00361 1 0 NOVA1 4857 broad.mit.edu 37 14 26917495 26917495 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:26917495A>G uc001wpy.2 - 5 1512 c.1194T>C c.(1192-1194)TAT>TAC p.Y398Y NOVA1_uc001wpz.2_Silent_p.Y374Y|NOVA1_uc001wqa.2_Silent_p.Y276Y NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 401 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CAGCTCCAAAATATCCATTGG 0.517 NA 11 44 0 0 0.000978 0 0 CTAGE5 4253 broad.mit.edu 37 14 39790155 39790155 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:39790155C>A uc001wvg.3 + 19 1903 c.1567C>A c.(1567-1569)CCA>ACA p.P523T CTAGE5_uc010tqe.1_Missense_Mutation_p.P485T|CTAGE5_uc001wuz.3_Missense_Mutation_p.P511T|CTAGE5_uc001wuy.3_Missense_Mutation_p.P443T|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.P494T|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.P448T|CTAGE5_uc001wvi.3_Missense_Mutation_p.P528T|CTAGE5_uc010amz.2_Missense_Mutation_p.P139T|CTAGE5_uc001wvj.3_Missense_Mutation_p.P494T NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 523 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TGGTCCCTCACCATTGGGTTG 0.443 NA 24 106 5.61819e-17 1.00146e-16 0.005443 1 0 MDGA2 161357 broad.mit.edu 37 14 47504236 47504236 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:47504236G>T uc001wwj.3 - 8 1786 c.1590C>A c.(1588-1590)GCC>GCA p.A530A MDGA2_uc001wwi.3_Silent_p.A301A|MDGA2_uc010ani.2_Silent_p.A90A NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 530 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GCTGCACCAAGGCTTCCCTTG 0.398 NA 12 116 1.3612e-06 1.90014e-06 0.003163 1 0 DACT1 51339 broad.mit.edu 37 14 59113481 59113481 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:59113481G>T uc001xdw.2 + 4 2304 c.2140G>T c.(2140-2142)GCC>TCC p.A714S DACT1_uc010trv.1_Missense_Mutation_p.A433S|DACT1_uc001xdx.2_Missense_Mutation_p.A677S|DACT1_uc010trw.1_Missense_Mutation_p.A433S NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 714 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 TCTGCCCTACGCCAGCCCCTA 0.677 NA 42 7 8.01111e-26 1.57431e-25 0.002522 1 0 RHOJ 57381 broad.mit.edu 37 14 63671684 63671684 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:63671684G>T uc001xgb.1 + 1 540 c.97G>T c.(97-99)GGG>TGG p.G33W NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 33 GTP (By similarity). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CGGTGCCGTGGGGAAAACCTG 0.547 NA 30 12 3.90053e-15 6.66775e-15 0.002445 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68222835 68222835 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:68222835C>A uc001xka.2 - 36 6755 c.6616G>T c.(6616-6618)GGC>TGC p.G2206C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.G52C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2206 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGGAAAATGCCTTCTATAAAA 0.473 NA 251 68 1.7865e-107 3.93852e-107 0.00361 1 0 PAPLN 89932 broad.mit.edu 37 14 73719443 73719443 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:73719443C>A uc010ttx.1 + 10 1217 c.1054C>A c.(1054-1056)CGG>AGG p.R352R PAPLN_uc001xnw.3_Silent_p.R325R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.R352R NM_173462 NP_775733 O95428 PPN_HUMAN papilin 352 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCAGCTGACCGGCGTTCCTG 0.642 NA 49 56 2.43277e-16 4.25735e-16 0.00361 1 0 C14orf174 161394 broad.mit.edu 37 14 77844926 77844926 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:77844926C>G uc001xtq.1 + 1 1165 c.1165C>G c.(1165-1167)CCA>GCA p.P389A TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 389 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GGAGATCAACCCACAAGTTGA 0.413 NA 21 48 0 0 0.001523 0 0 ALKBH1 8846 broad.mit.edu 37 14 78140172 78140172 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:78140172T>A uc001xuc.1 - 6 1162 c.1153A>T c.(1153-1155)ATA>TTA p.I385L ALKBH1_uc001xud.1_RNA NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 385 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TCAGGGTTTATCCTGGCCCGT 0.453 NA 37 24 0 0 0.005524 0 0 KCNK13 56659 broad.mit.edu 37 14 90650517 90650517 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:90650517G>T uc001xye.1 + 2 839 c.397G>T c.(397-399)GTT>TTT p.V133F NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 133 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TTACGGCCTTGTTGGGTGTTC 0.502 NA 80 23 1.75807e-36 3.70547e-36 0.00361 1 0 SLC24A4 123041 broad.mit.edu 37 14 92959890 92959890 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:92959890C>A uc001yak.2 + 17 1760 c.1736C>A c.(1735-1737)GCC>GAC p.A579D SLC24A4_uc001yai.2_Missense_Mutation_p.A532D|SLC24A4_uc010twm.1_Missense_Mutation_p.A577D|SLC24A4_uc001yaj.2_Missense_Mutation_p.A560D|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.A352D|SLC24A4_uc001yan.2_Missense_Mutation_p.A290D NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 596 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTTCTCTACGCCATCTTCTTG 0.547 NSCLC(10;315 435 10383 28450 38798) NA 47 12 2.24722e-20 4.23396e-20 0.00361 1 0 KIAA1409 57578 broad.mit.edu 37 14 94053228 94053228 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:94053228C>A uc001ybv.1 + 19 2558 c.2475C>A c.(2473-2475)TAC>TAA p.Y825* KIAA1409_uc001ybs.1_Nonsense_Mutation_p.Y825* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1002 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTTTAGCCTACATTCAGGACC 0.343 NA 124 37 3.78446e-69 8.28607e-69 0.00361 1 0 SERPINA5 5104 broad.mit.edu 37 14 95053813 95053813 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:95053813C>A uc001ydm.2 + 3 324 c.114C>A c.(112-114)GCC>GCA p.A38A SERPINA5_uc010ave.2_Silent_p.A38A|SERPINA5_uc001ydn.1_Silent_p.A38A NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 38 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ATGTAGGTGCCACGGTGGCCC 0.622 NA 52 14 6.81593e-30 1.39371e-29 0.00361 1 0 TDRD9 122402 broad.mit.edu 37 14 104441747 104441747 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:104441747A>G uc001yom.3 + 7 898 c.868A>G c.(868-870)ATC>GTC p.I290V TDRD9_uc001yon.3_Missense_Mutation_p.I28V NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 290 Helicase ATP-binding. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GTCGGCTACCATCAGCTGTAA 0.378 NA 4 72 0 0 0.000602 0 0 KIF26A 26153 broad.mit.edu 37 14 104640563 104640563 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:104640563G>T uc001yos.3 + 11 2109 c.2109G>T c.(2107-2109)TCG>TCT p.S703S NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 703 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCCACGTGTCGGATGCGCCAG 0.682 NA 10 5 0.000442599 0.000570501 0.006214 1 0 MTA1 9112 broad.mit.edu 37 14 105929519 105929519 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr14:105929519A>G uc001yqx.2 + 11 1130 c.943_splice c.e11-2 p.L315_splice MTA1_uc001yqy.2_Splice_Site|MTA1_uc001yrb.2_Splice_Site_p.L76_splice NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCTCCCACCCAGCTCCCGTGG 0.647 NA 127 101 0 0 0.00361 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889722 23889722 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:23889722A>T uc001ywj.3 - 1 1454 c.1359T>A c.(1357-1359)GAT>GAA p.D453E NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTAAGCACTCATCTTTATACT 0.453 NA 26 23 0 0 0.00632 0 0 ATP10A 57194 broad.mit.edu 37 15 25924502 25924502 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:25924502T>A uc010ayu.2 - 21 4592 c.4486A>T c.(4486-4488)AGG>TGG p.R1496W NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1496 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGTGACCGCCTTGAAGATGCT 0.413 NA 33 29 0 0 0.002836 0 0 APBA2 321 broad.mit.edu 37 15 29386483 29386483 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:29386483G>T uc001zck.2 + 7 1425 c.1218G>T c.(1216-1218)AGG>AGT p.R406S APBA2_uc010azj.2_Intron|APBA2_uc010uat.1_Intron|APBA2_uc001zcl.2_Intron|APBA2_uc001zcm.1_Intron NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 406 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GCTGTCAGAGGATGCAAAAGG 0.507 NA 24 81 1.33986e-20 2.53438e-20 0.004656 1 0 PAK6 56924 broad.mit.edu 37 15 40564701 40564701 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:40564701G>T uc010bbl.2 + 6 1575 c.1135G>T c.(1135-1137)GGT>TGT p.G379C PAK6_uc010bbm.2_Missense_Mutation_p.G379C|PAK6_uc001zky.3_Missense_Mutation_p.G379C|PAK6_uc010bbn.2_Missense_Mutation_p.G379C|PAK6_uc001zlb.2_Missense_Mutation_p.G379C NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 379 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TGCCCTGGCTGGTGAGGACAC 0.647 NA 9 9 7.48243e-07 1.05369e-06 0.006214 1 0 SQRDL 58472 broad.mit.edu 37 15 45968317 45968317 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:45968317G>T uc001zvt.2 + 7 862 c.673G>T c.(673-675)GCC>TCC p.A225S SQRDL_uc001zvu.2_Missense_Mutation_p.A225S|SQRDL_uc001zvv.2_Missense_Mutation_p.A225S NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 225 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GCGATCCAAGGCCAATATCAT 0.418 NA 49 35 8.72198e-27 1.75722e-26 0.00361 1 0 SHC4 399694 broad.mit.edu 37 15 49255113 49255113 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:49255113G>T uc001zxb.1 - 1 529 c.100C>A c.(100-102)CGG>AGG p.R34R NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 34 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GACTCGTTCCGAAAGCGGCTG 0.652 NA 23 22 4.26978e-12 6.81317e-12 0.00333 1 0 SCG3 29106 broad.mit.edu 37 15 51975582 51975582 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:51975582G>T uc002abh.2 + 4 756 c.348G>T c.(346-348)CTG>CTT p.L116L SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 116 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) ATCGAAAACTGATCGATGATT 0.323 NA 5 52 0.000602214 0.000770031 0.000602 1 0 GOLGA6B 55889 broad.mit.edu 37 15 72953671 72953671 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:72953671C>A uc010uks.1 + 8 672 c.631C>A c.(631-633)CTG>ATG p.L211M NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 211 Potential. 0 GCGGGCGCTGCTGAACGCACA 0.592 NA 15 65 8.00594e-06 1.08749e-05 0.007413 1 0 CSPG4 1464 broad.mit.edu 37 15 75968962 75968962 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:75968962G>T uc002baw.2 - 10 5991 c.5898C>A c.(5896-5898)CTC>CTA p.L1966L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1966 Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AAACCACCCGGAGCTGCTGCT 0.672 NA 14 26 1.52009e-12 2.45415e-12 0.003163 1 0 CSPG4 1464 broad.mit.edu 37 15 75979682 75979682 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:75979682C>G uc002baw.2 - 3 3817 c.3724G>C c.(3724-3726)GTC>CTC p.V1242L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1242 CSPG 8.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TTGTGCCGGACCAGCTTCAGT 0.617 NA 18 32 0 0 0.008871 0 0 ABHD2 11057 broad.mit.edu 37 15 89738464 89738464 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:89738464G>T uc002bnj.2 + 16 2005 c.1088G>T c.(1087-1089)CGA>CTA p.R363L ABHD2_uc002bnk.2_Missense_Mutation_p.R363L NM_007011 NP_008942 P08910 ABHD2_HUMAN alpha/beta hydrolase domain containing protein 363 integral to membrane carboxylesterase activity ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) GCAGAGAAACGAGAGAACGTC 0.567 Colon(11;252 417 24570 33239 41878) NA 13 40 4.3838e-07 6.22824e-07 0.001855 1 0 CLCN7 1186 broad.mit.edu 37 16 1507713 1507714 + Missense_Mutation DNP CC CC AA TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:1507713_1507714CC>AA uc002clv.2 - 8 829_830 c.719_720GG>TT c.(718-720)GGG>GTT p.G240V CLCN7_uc002clw.2_Missense_Mutation_p.G216V NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 240 Helical; (By similarity). G -> R (in OPTB4). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CGGCCAGGCCCCCGACCACGGA 0.629 NA 6 21 0 0 0.004672 0 0 ZG16B 124220 broad.mit.edu 37 16 2880331 2880331 + Splice_Site SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:2880331T>A uc002cru.2 + 1 157 c.81_splice c.e1+2 p.E27_splice NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor extracellular region sugar binding ovary(1) 1 ACAGGCGAGGTAAGGTGCTTG 0.637 NA 4 6 0 0 0.001168 0 0 MEFV 4210 broad.mit.edu 37 16 3304279 3304279 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:3304279T>A uc002cun.1 - 2 829 c.789A>T c.(787-789)CTA>CTT p.L263L NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 263 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) TCTTTTCCTCTAGAGTCAGGA 0.572 NA 39 68 0 0 0.007835 0 0 ZNF500 26048 broad.mit.edu 37 16 4815625 4815625 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:4815625C>A uc002cxp.1 - 2 602 c.355G>T c.(355-357)GAG>TAG p.E119* ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Nonsense_Mutation_p.E119* NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 119 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ACGGCCTCCTCACCGCTCTCC 0.647 NA 16 36 6.31663e-08 9.16436e-08 0.003163 1 0 A2BP1 54715 broad.mit.edu 37 16 7645589 7645589 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:7645589G>T uc002cys.2 + 8 1495 c.507G>T c.(505-507)GCG>GCT p.A169A A2BP1_uc010buf.1_Silent_p.A169A|A2BP1_uc002cyr.1_Silent_p.A168A|A2BP1_uc002cyt.2_Silent_p.A169A|A2BP1_uc010uxz.1_Silent_p.A212A|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.A169A|A2BP1_uc010uyb.1_Silent_p.A169A|A2BP1_uc002cyw.2_Silent_p.A189A|A2BP1_uc002cyy.2_Silent_p.A189A|A2BP1_uc002cyx.2_Silent_p.A189A|A2BP1_uc010uyc.1_Silent_p.A189A NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 169 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) GTGCCGATGCGGACAGGGCGA 0.428 NA 28 52 5.8336e-16 1.01532e-15 0.003271 1 0 MYH11 4629 broad.mit.edu 37 16 15853483 15853483 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:15853483C>T uc002ddy.2 - 12 1458 c.1351G>A c.(1351-1353)GGG>AGG p.G451R MYH11_uc002ddv.2_Missense_Mutation_p.G458R|MYH11_uc002ddw.2_Missense_Mutation_p.G451R|MYH11_uc002ddx.2_Missense_Mutation_p.G458R|MYH11_uc010bvg.2_Missense_Mutation_p.G283R|MYH11_uc002dea.1_Missense_Mutation_p.G157R NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 451 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 AAGGAAGCCCCTTGCCGATGG 0.532 NA T CBFB AML 20 59 0 0 0.008871 0 0 ABCC1 4363 broad.mit.edu 37 16 16184348 16184348 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:16184348G>T uc010bvi.2 + 19 2722 c.2547G>T c.(2545-2547)ATG>ATT p.M849I ABCC1_uc010bvj.2_Missense_Mutation_p.M790I|ABCC1_uc010bvk.2_Missense_Mutation_p.M793I|ABCC1_uc010bvl.2_Missense_Mutation_p.M849I|ABCC1_uc010bvm.2_Missense_Mutation_p.M734I|ABCC1_uc002del.3_Missense_Mutation_p.M733I NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 849 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTCTGAGATGGGCTCCTACC 0.597 NA 6 9 2.0095e-06 2.76883e-06 0.001984 1 0 C16orf62 57020 broad.mit.edu 37 16 19644488 19644488 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:19644488C>T uc002dgn.1 + 19 1641 c.1629C>T c.(1627-1629)TAC>TAT p.Y543Y C16orf62_uc002dgo.1_Silent_p.Y476Y|C16orf62_uc002dgp.1_Silent_p.Y292Y NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 543 integral to membrane ovary(1) 1 AAGATTCCTACCCCCAGGTAA 0.368 NA 30 59 0 0 0.002836 0 0 METTL9 51108 broad.mit.edu 37 16 21623972 21623972 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:21623972G>A uc002dje.2 + 2 371 c.172G>A c.(172-174)GTG>ATG p.V58M uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.V58M NM_016025 NP_057109 Q9H1A3 METL9_HUMAN methyltransferase like 9 isoform 1 58 ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0759) ttAGTGGTATGTGTGCAACAG 0.323 NA 10 22 0 0 0.006214 0 0 OTOA 146183 broad.mit.edu 37 16 21716560 21716560 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:21716560T>A uc002djh.2 + 11 1052 c.1051T>A c.(1051-1053)TAC>AAC p.Y351N uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.Y272N|OTOA_uc002dji.2_Missense_Mutation_p.Y27N|OTOA_uc010vbk.1_5'UTR NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 365 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) AGTCCTGCTTTACCAGATGAT 0.572 NA 31 50 0 0 0.002096 0 0 CD19 930 broad.mit.edu 37 16 28947869 28947869 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:28947869C>A uc002drs.2 + 7 1094 c.1032C>A c.(1030-1032)CCC>CCA p.P344P uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.P344P NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 344 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 GAAGCGGGCCCCAGAACCAGT 0.637 NA 12 57 1.5842e-08 2.31593e-08 0.001855 1 0 SALL1 6299 broad.mit.edu 37 16 51171110 51171110 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:51171110G>C uc010vgs.1 - 3 3919 c.3888C>G c.(3886-3888)GGC>GGG p.G1296G SALL1_uc010vgr.1_Silent_p.G1199G|SALL1_uc010cbv.2_Silent_p.G148G NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1296 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTTCTCCAGGCCGGCCAGGG 0.587 GBM(103;1352 1446 1855 4775 8890) NA 16 38 0 0 0.003163 0 0 HYDIN 54768 broad.mit.edu 37 16 70908286 70908286 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:70908286G>T uc002ezr.2 - 64 10995 c.10867C>A c.(10867-10869)CCC>ACC p.P3623T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3624 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGGCTGGTGGGGGCCACCAGT 0.502 NA 12 50 3.45872e-05 4.60682e-05 0.004007 1 0 HYDIN 54768 broad.mit.edu 37 16 71015345 71015345 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:71015345C>A uc002ezr.2 - 29 4584 c.4456G>T c.(4456-4458)GGA>TGA p.G1486* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1487 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATTCCCTCTCCGCTCAGAGTG 0.478 NA 18 39 7.16444e-05 9.43777e-05 0.003954 1 0 CHST4 10164 broad.mit.edu 37 16 71571596 71571596 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:71571596C>A uc002fan.2 + 2 1197 c.1016C>A c.(1015-1017)CCC>CAC p.P339H CHST4_uc002fao.2_Missense_Mutation_p.P339H NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 339 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 TGGTCTTTGCCCTATGAAAAG 0.527 NA OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 1.76689e-08 2.57515e-08 0.006214 1 0 GLG1 2734 broad.mit.edu 37 16 74516969 74516969 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:74516969C>G uc002fcy.3 - 10 1675 c.1625G>C c.(1624-1626)TGT>TCT p.C542S GLG1_uc002fcx.2_Missense_Mutation_p.C542S|GLG1_uc002fcw.3_Missense_Mutation_p.C531S|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 542 Extracellular (Potential).|Cys-rich GLG1 8. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 ACGGTGTTCACAGTCTTCTAC 0.413 NA 28 37 0 0 0.003755 0 0 CHST5 23563 broad.mit.edu 37 16 75563627 75563627 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:75563627A>G uc002fei.2 - 3 2051 c.656T>C c.(655-657)ATC>ACC p.I219T CHST5_uc002fej.1_Missense_Mutation_p.I225T NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 219 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CAGGTGCACGATGCGCAGGTT 0.706 NA 21 37 0 0 0.001523 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999445 83999445 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:83999445A>G uc002fha.2 + 7 1899 c.1516A>G c.(1516-1518)AAG>GAG p.K506E NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Missense_Mutation_p.K423E|OSGIN1_uc002fhc.2_Missense_Mutation_p.K423E NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 506 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 GCTGAGCGCCAAGAGGAACCC 0.662 NA 33 17 0 0 0.00623 0 0 PITPNM3 83394 broad.mit.edu 37 17 6364774 6364774 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:6364774C>A uc002gdd.3 - 18 2560 c.2409G>T c.(2407-2409)CAG>CAT p.Q803H PITPNM3_uc010cln.2_Missense_Mutation_p.Q767H|PITPNM3_uc010clm.2_Missense_Mutation_p.Q286H|PITPNM3_uc002gdc.3_Missense_Mutation_p.Q394H NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 803 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) AGATCATGCCCTGTGGGAAGT 0.607 NA 76 19 3.00167e-28 6.073e-28 0.00361 1 0 TP53 7157 broad.mit.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:7577129A>C uc002gim.2 - 8 1003 c.809T>G c.(808-810)TTT>TGT p.F270C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138C|TP53_uc010cng.1_Missense_Mutation_p.F138C|TP53_uc002gii.1_Missense_Mutation_p.F138C|TP53_uc010cnh.1_Missense_Mutation_p.F270C|TP53_uc010cni.1_Missense_Mutation_p.F270C|TP53_uc002gij.2_Missense_Mutation_p.F270C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 270 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCACCTCAAAGCTGTTCCG 0.537 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 6 0 0 0.006214 0 0 DNAH2 146754 broad.mit.edu 37 17 7689630 7689630 + Silent SNP C C T rs150195626 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:7689630C>T uc002giu.1 + 39 6332 c.6318C>T c.(6316-6318)CGC>CGT p.R2106R NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2106 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCTGTGCCGCGCCGGAGACC 0.597 NA 8 18 0 0 0.006214 0 0 MYH1 4619 broad.mit.edu 37 17 10404699 10404699 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10404699C>T uc002gmo.2 - 27 3560 c.3466G>A c.(3466-3468)GAA>AAA p.E1156K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1156 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CCACCGGCTTCTTCCAGCCTC 0.622 NA 83 21 0 0 0.00361 0 0 MYH1 4619 broad.mit.edu 37 17 10406197 10406197 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10406197T>C uc002gmo.2 - 24 3063 c.2969A>G c.(2968-2970)GAT>GGT p.D990G uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 990 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AATGGTTTCATCCAGACCCGC 0.512 NA 48 107 0 0 0.00361 0 0 MYH2 4620 broad.mit.edu 37 17 10426870 10426870 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10426870C>G uc010coi.2 - 37 5543 c.5415G>C c.(5413-5415)GAG>GAC p.E1805D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1805D|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1805 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GCTGCTCAGCCTCATCCAGAC 0.567 NA 73 28 0 0 0.00361 0 0 MYH2 4620 broad.mit.edu 37 17 10428110 10428110 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:10428110G>A uc010coi.2 - 34 5063 c.4935C>T c.(4933-4935)GCC>GCT p.A1645A uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.A1645A|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1645 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGTTCCTCAGGGCCTCAGCAG 0.507 NA 31 55 0 0 0.002096 0 0 DNAH9 1770 broad.mit.edu 37 17 11772571 11772571 + Splice_Site SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:11772571G>C uc002gne.2 + 51 10121 c.10053_splice c.e51+1 p.L3351_splice DNAH9_uc010coo.2_Splice_Site_p.L2645_splice NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAACCGCCTGGTGAGTGTAAG 0.512 NA 25 19 0 0 0.004656 0 0 SGK494 124923 broad.mit.edu 37 17 26940477 26940477 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:26940477C>G uc002hbr.1 - 2 337 c.305G>C c.(304-306)AGG>ACG p.R102T SGK494_uc010waq.1_Missense_Mutation_p.R102T|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron NM_144610 NP_653211 uncharacterized serine/threonine-protein kinase 0 CTGCTGCCCCCTAATGGGCCT 0.522 NA OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 62 0 0 0.00245 0 0 NF1 4763 broad.mit.edu 37 17 29553455 29553455 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:29553455T>C uc002hgg.2 + 18 2337 c.2004T>C c.(2002-2004)GAT>GAC p.D668D NF1_uc002hgh.2_Silent_p.D668D|NF1_uc010csn.1_Silent_p.D528D|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 668 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACTCTCAGGATAGTGCAGCAG 0.403 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 14 0 0 0.006214 0 0 CCL7 6354 broad.mit.edu 37 17 32597371 32597371 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:32597371G>T uc002hhz.2 + 1 132 c.62G>T c.(61-63)GGG>GTG p.G21V CCL7_uc010ctf.2_RNA NM_006273 NP_006264 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 precursor 21 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding ovary(1) 1 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) AGCCCCCAGGGGCTTGCTCAG 0.557 NA 9 18 0.000442599 0.000570501 0.006214 1 0 LHX1 3975 broad.mit.edu 37 17 35300422 35300422 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:35300422G>T uc002hnh.1 + 5 2211 c.1215G>T c.(1213-1215)GTG>GTT p.V405V NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 405 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) AGGCGGCCGTGTGGTAGCGGG 0.527 NA 12 5 9.31168e-06 1.26129e-05 0.001855 1 0 LASP1 3927 broad.mit.edu 37 17 37070622 37070622 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:37070622C>G uc002hra.2 + 5 733 c.402C>G c.(400-402)AGC>AGG p.S134R LASP1_uc010cvq.2_Missense_Mutation_p.A12G|LASP1_uc010wdz.1_Missense_Mutation_p.S78R NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 134 cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 TGGGCCCTAGCGGGGGCGAGG 0.612 NA T MLL AML 11 6 0 0 0.003163 0 0 STARD3 10948 broad.mit.edu 37 17 37813294 37813294 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:37813294G>A uc002hsd.2 + 3 377 c.253G>A c.(253-255)GAG>AAG p.E85K STARD3_uc010weg.1_Missense_Mutation_p.E85K|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.E85K|STARD3_uc010wei.1_Missense_Mutation_p.E85K|STARD3_uc002hsf.2_5'UTR|STARD3_uc002hsg.2_5'Flank NM_006804 NP_006795 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain 85 Extracellular (Potential).|MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTTGGAGCAGGAGATCATCCA 0.557 NA 30 23 0 0 0.003755 0 0 TOP2A 7153 broad.mit.edu 37 17 38555031 38555031 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:38555031A>C uc002huq.2 - 26 3573 c.3447T>G c.(3445-3447)AAT>AAG p.N1149K NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1149 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TCACTTTTTCATTTCTTAGCC 0.363 NA 16 63 0 0 0.008871 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383101 39383101 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:39383101C>G uc002hwf.2 + 1 202 c.195C>G c.(193-195)ACC>ACG p.T65T NM_031961 NP_114167 Q9BYQ4 KRA92_HUMAN keratin associated protein 9.2 65 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|7. keratin filament protein binding upper_aerodigestive_tract(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GTAGGACCACCTGCTGCCAGC 0.652 NA 46 45 0 0 0.00361 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40838982 40838982 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:40838982G>A uc002iay.2 + 7 1178 c.962G>A c.(961-963)CGC>CAC p.R321H CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 321 Laminin G-like 1.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CATAACTTCCGCGGCTGCATA 0.632 NA 26 13 0 0 0.004656 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545941 43545941 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:43545941G>C uc002ija.2 - 5 1112 c.942C>G c.(940-942)AGC>AGG p.S314R PLEKHM1_uc010wjm.1_Missense_Mutation_p.S286R|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S263R NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 314 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CCTGGGCTTTGCTGAATTCCA 0.512 NA 27 39 0 0 0.001786 0 0 KIF2B 84643 broad.mit.edu 37 17 51900476 51900476 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:51900476G>T uc002iua.2 + 1 238 c.82G>T c.(82-84)GAG>TAG p.E28* NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 28 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGACATCCAAGAGGGCATCTA 0.557 NA 28 6 4.87955e-14 8.0542e-14 0.005443 1 0 KIF2B 84643 broad.mit.edu 37 17 51900892 51900892 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:51900892G>T uc002iua.2 + 1 654 c.498G>T c.(496-498)CTG>CTT p.L166L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 166 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GCAGGCGGCTGCAGCAGGAGA 0.547 NA 46 20 7.05377e-20 1.31606e-19 0.00361 1 0 CUEDC1 404093 broad.mit.edu 37 17 55950055 55950055 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:55950055C>G uc002ivd.1 - 5 1472 c.753G>C c.(751-753)CGG>CGC p.R251R CUEDC1_uc002ive.1_Silent_p.R251R NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 251 skin(2) 2 AGTCGCGGTTCCGTTGCAGCT 0.622 NA 12 38 0 0 0.001368 0 0 BCAS3 54828 broad.mit.edu 37 17 58987935 58987935 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:58987935C>G uc002iyv.3 + 12 974 c.865C>G c.(865-867)CAG>GAG p.Q289E BCAS3_uc010wow.1_Missense_Mutation_p.Q76E|BCAS3_uc002iyu.3_Missense_Mutation_p.Q289E|BCAS3_uc002iyw.3_Missense_Mutation_p.Q285E|BCAS3_uc002iyx.1_Missense_Mutation_p.Q104E|BCAS3_uc002iyy.3_Missense_Mutation_p.Q60E NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 289 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGTGGTGACTCAGCTGACAGG 0.443 NA 19 53 0 0 0.007413 0 0 BRIP1 83990 broad.mit.edu 37 17 59878764 59878764 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:59878764C>T uc002izk.1 - 8 1131 c.990G>A c.(988-990)GGG>GGA p.G330G NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 330 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CTTTGCACATCCCTTGGAAAG 0.393 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 72 54 0 0 0.00361 0 0 MED13 9969 broad.mit.edu 37 17 60072552 60072552 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:60072552A>C uc002izo.2 - 10 2219 c.2142T>G c.(2140-2142)GAT>GAG p.D714E NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 714 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TATTTTGTCTATCTTTTTTAT 0.358 NA 13 61 0 0 0.004007 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856235 62856235 + Silent SNP C C T rs143516328 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:62856235C>T uc002jey.2 - 11 4560 c.4029G>A c.(4027-4029)CCG>CCA p.P1343P LRRC37A3_uc010wqg.1_Silent_p.P461P|LRRC37A3_uc002jex.1_Silent_p.P320P|LRRC37A3_uc010wqf.1_Silent_p.P381P|LRRC37A3_uc010dek.1_Silent_p.P349P NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1343 Extracellular (Potential). integral to membrane 0 CTGCAGAGAACGGAAGCCTGT 0.463 NA 36 135 0 0 0.004289 0 0 ABCA8 10351 broad.mit.edu 37 17 66881435 66881435 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:66881435C>A uc002jhp.2 - 25 3510 c.3331G>T c.(3331-3333)GGA>TGA p.G1111* ABCA8_uc002jhq.2_Nonsense_Mutation_p.G1151*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.G1151* NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1111 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) AACGCAAATCCAGCCACAGAG 0.358 NA 20 41 0.000132079 0.000173038 0.008871 1 0 MGAT5B 146664 broad.mit.edu 37 17 74901391 74901391 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:74901391G>T uc002jti.2 + 6 967 c.864G>T c.(862-864)GGG>GGT p.G288G MGAT5B_uc002jth.2_Silent_p.G277G NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 277 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 AGAAGCTGGGGGCCACCCAGA 0.647 NA 20 7 3.5997e-14 5.99325e-14 0.002299 1 0 SEC14L1 6397 broad.mit.edu 37 17 75205438 75205438 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:75205438G>A uc002jto.2 + 14 1758 c.1491G>A c.(1489-1491)GAG>GAA p.E497E SEC14L1_uc010dhc.2_Silent_p.E497E|SEC14L1_uc010wth.1_Silent_p.E497E|SEC14L1_uc002jtm.2_Silent_p.E497E|SEC14L1_uc010wti.1_Silent_p.E463E|SEC14L1_uc010wtj.1_Silent_p.E57E|SEC14L1_uc002jtr.2_5'UTR NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 497 transport Golgi apparatus|integral to membrane binding ovary(2) 2 AAGTGCCAGAGGGTGGACTGG 0.552 NA 3 30 0 0 0.004672 0 0 LAMA1 284217 broad.mit.edu 37 18 7044817 7044817 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:7044817G>A uc002knm.2 - 7 974 c.880C>T c.(880-882)CAT>TAT p.H294Y LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 294 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGTATTATGCTCACATTGA 0.448 NA 67 59 0 0 0.00361 0 0 FAM38B 63895 broad.mit.edu 37 18 10672706 10672706 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:10672706C>A uc002kor.3 - 13 1998 c.1858G>T c.(1858-1860)GGG>TGG p.G620W FAM38B_uc002koq.2_Missense_Mutation_p.G455W NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2663 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 GCCAGGAACCCCAGACTTGGG 0.463 NA 34 118 2.42023e-17 4.33832e-17 0.003271 1 0 ESCO1 114799 broad.mit.edu 37 18 19154125 19154125 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:19154125C>A uc002kth.1 - 4 1614 c.680G>T c.(679-681)TGT>TTT p.C227F ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 227 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 CTTCTGAGGACACTTTTCAGA 0.403 NA 41 70 3.61848e-18 6.5971e-18 0.007835 1 0 NPC1 4864 broad.mit.edu 37 18 21136522 21136523 + Missense_Mutation DNP CC CC AA rs147795644 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:21136522_21136523CC>AA uc002kum.3 - 8 1284_1285 c.1010_1011GG>TT c.(1009-1011)CGG>CTT p.R337L NPC1_uc010xaz.1_Missense_Mutation_p.R138L|NPC1_uc010xba.1_Missense_Mutation_p.R182L NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 337 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GTGTGAACAGCCGCCTCAAGCA 0.574 NA 14 15 0 0 0.004672 0 0 ZNF521 25925 broad.mit.edu 37 18 22804644 22804644 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:22804644G>T uc002kvk.2 - 4 3485 c.3238C>A c.(3238-3240)CTG>ATG p.L1080M ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L1080M|ZNF521_uc002kvl.2_Missense_Mutation_p.L860M NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1080 C2H2-type 25; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTTTCACCAGATCTTGCTTG 0.542 NA T PAX5 ALL 18 39 9.16793e-09 1.35262e-08 0.00499 1 0 CDH2 1000 broad.mit.edu 37 18 25565085 25565085 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:25565085C>A uc002kwg.2 - 13 2547 c.2088G>T c.(2086-2088)CTG>CTT p.L696L CDH2_uc010xbn.1_Silent_p.L665L NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 696 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CCTTCACACGCAGGATGGAAA 0.468 NA 17 27 8.34094e-07 1.16944e-06 0.008871 1 0 ASXL3 80816 broad.mit.edu 37 18 31323231 31323231 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:31323231C>A uc010dmg.1 + 12 3474 c.3419C>A c.(3418-3420)CCA>CAA p.P1140Q ASXL3_uc002kxq.2_Missense_Mutation_p.P847Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GAAGGGCCTCCAAACTTAGAA 0.483 NA 6 10 0.00198382 0.00250656 0.001984 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44260249 44260249 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:44260249G>T uc002lcj.1 - 7 1455 c.887C>A c.(886-888)GCC>GAC p.A296D ST8SIA5_uc002lci.1_Missense_Mutation_p.A143D|ST8SIA5_uc010xcy.1_Missense_Mutation_p.A332D|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A265D NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 296 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GATGCGCTTGGCGCGCACCCC 0.622 NA 5 20 2.0095e-06 2.76883e-06 0.001984 1 0 ME2 4200 broad.mit.edu 37 18 48458657 48458657 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:48458657A>G uc002ley.2 + 13 1600 c.1344A>G c.(1342-1344)CCA>CCG p.P448P ME2_uc010dpd.2_Silent_p.P448P NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 448 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GTGGCAGTCCATTTGGGCCAG 0.358 NA 25 42 0 0 0.007291 0 0 DCC 1630 broad.mit.edu 37 18 50985817 50985817 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:50985817C>A uc002lfe.1 + 24 4195 c.3608C>A c.(3607-3609)ACC>AAC p.T1203N DCC_uc010dpf.1_Missense_Mutation_p.T838N NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1203 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCAAAAGCACCTCTCATTCA 0.478 NA 22 27 2.37509e-13 3.88688e-13 0.001523 1 0 ZCCHC2 54877 broad.mit.edu 37 18 60237354 60237354 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:60237354G>C uc002lip.3 + 12 1865 c.1865G>C c.(1864-1866)GGC>GCC p.G622A ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.G92A NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 622 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TTGGACATTGGCTCTGGACAT 0.313 NA 5 7 0 0 0.001168 0 0 CDH7 1005 broad.mit.edu 37 18 63547670 63547670 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:63547670G>T uc002ljz.2 + 12 2223 c.1898G>T c.(1897-1899)CGG>CTG p.R633L CDH7_uc002lkb.2_Missense_Mutation_p.R633L NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 633 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATGAGAAGACGGAAAAAAGAG 0.438 NA 9 28 3.09899e-07 4.42251e-07 0.004482 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999633 72999633 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr18:72999633G>T uc002lly.2 + 2 2699 c.2136G>T c.(2134-2136)CTG>CTT p.L712L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 757 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACACCCACCTGGGCAAGGTGT 0.602 NA 7 31 8.12818e-05 0.00010678 0.001984 1 0 ZBTB7A 51341 broad.mit.edu 37 19 4047778 4047778 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4047778T>A uc002lzh.2 - 3 1802 c.1727A>T c.(1726-1728)GAC>GTC p.D576V ZBTB7A_uc002lzi.2_Missense_Mutation_p.D576V NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 576 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGTTACCGTCGGTGGCGGC 0.542 NA 11 22 0 0 0.000978 0 0 ANKRD24 170961 broad.mit.edu 37 19 4224484 4224484 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4224484C>A uc010dtt.1 + 22 3699 c.3423C>A c.(3421-3423)CTC>CTA p.L1141L NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1141 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGCAGAGACTCCAGGCTCAGG 0.612 NA 16 24 6.94344e-10 1.06882e-09 0.006122 1 0 SAFB2 9667 broad.mit.edu 37 19 5610692 5610692 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:5610692T>G uc002mcd.2 - 8 1365 c.1153A>C c.(1153-1155)AAG>CAG p.K385Q NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TTTTCTTCCTTAAAAGAGCTA 0.323 Ovarian(127;888 1728 23957 44128 52668) NA 10 9 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 8968943 8968943 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:8968943T>A uc002mkp.2 - 80 43277 c.43073A>T c.(43072-43074)AAC>ATC p.N14358I MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N1158I|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAGAGTTGGTTGAGCTGAAA 0.438 NA 6 11 0 0 0.001168 0 0 OR7G1 125962 broad.mit.edu 37 19 9226437 9226437 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:9226437C>T uc002mks.1 - 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TTCTGGGTCCCATGTTTTTGA 0.418 NA 40 18 0 0 0.004878 0 0 CDC37 11140 broad.mit.edu 37 19 10504034 10504034 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:10504034G>A uc002mof.1 - 6 926 c.810C>T c.(808-810)CGC>CGT p.R270R CDC37_uc002moe.1_Silent_p.R225R|CDC37_uc010dxf.1_Silent_p.R107R|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.R270R NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 270 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CCTTCTCGATGCGCAGCTTGG 0.657 NA 55 5 0 0 0.00361 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073090 15073090 + Missense_Mutation SNP G G A rs141656938 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15073090G>A uc002naa.1 - 5 667 c.659C>T c.(658-660)CCG>CTG p.P220L SLC1A6_uc010dzu.1_Missense_Mutation_p.P220L|SLC1A6_uc010xod.1_Missense_Mutation_p.P156L|SLC1A6_uc002nab.2_Missense_Mutation_p.P220L|SLC1A6_uc002nac.2_Missense_Mutation_p.P220L NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 220 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GGAGGCACCCGGCTCAGACCC 0.542 NA 67 22 0 0 0.00361 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794413 15794413 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15794413G>C uc002nbl.2 + 7 819 c.758G>C c.(757-759)GGG>GCG p.G253A NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TCCCATGACGGGCGGCGCTTC 0.552 NA 50 25 0 0 0.00361 0 0 OR10H1 26539 broad.mit.edu 37 19 15918728 15918728 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:15918728C>A uc002nbq.2 - 1 209 c.120G>T c.(118-120)CTG>CTT p.L40L NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCAGGTTGCCCAGCAGCGTGA 0.597 NA 54 11 2.03366e-24 3.96398e-24 0.00361 1 0 CIB3 117286 broad.mit.edu 37 19 16280476 16280476 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:16280476G>T uc002nds.2 - 3 163 c.163C>A c.(163-165)CCC>ACC p.P55T CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic 55 calcium ion binding ovary(1) 1 AGCTCGTAGGGCACCTTCACA 0.517 NA 10 4 5.50884e-06 7.50423e-06 0.001368 1 0 MAP1S 55201 broad.mit.edu 37 19 17837847 17837847 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:17837847A>T uc002nhe.1 + 5 1663 c.1654A>T c.(1654-1656)AAG>TAG p.K552* MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Nonsense_Mutation_p.K552*|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Nonsense_Mutation_p.K526* NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 552 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GCCCAACCTCAAGAAGACGAA 0.682 NA 11 2 0 0 0.001368 0 0 ZNF536 9745 broad.mit.edu 37 19 31040383 31040383 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:31040383C>G uc002nsu.1 + 4 3995 c.3857C>G c.(3856-3858)ACA>AGA p.T1286R ZNF536_uc010edd.1_Missense_Mutation_p.T1286R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCAAGTAGCACAGCAAATTCT 0.488 NA 17 53 0 0 0.00499 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768676 31768676 + Missense_Mutation SNP G G A rs143305127 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:31768676G>A uc002nsy.3 - 2 2088 c.2023C>T c.(2023-2025)CGG>TGG p.R675W NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 675 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CACCCATCCCGCGGGGGGCTG 0.652 NA 8 29 0 0 0.00308 0 0 GPATCH1 55094 broad.mit.edu 37 19 33588736 33588736 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:33588736G>A uc002nug.1 + 8 1242 c.928G>A c.(928-930)GTT>ATT p.V310I NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 310 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GTATGACACTGTTCTGAAGGA 0.453 Pancreas(67;88 1713 4567 18227) NA 57 142 0 0 0.00361 0 0 CD22 933 broad.mit.edu 37 19 35831821 35831821 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:35831821C>T uc010edt.2 + 7 1364 c.1287C>T c.(1285-1287)CCC>CCT p.P429P CD22_uc010xst.1_Silent_p.P257P|CD22_uc010edu.2_Silent_p.P341P|CD22_uc010edv.2_Silent_p.P429P|CD22_uc002nzb.3_Silent_p.P252P|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 429 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TTCAAAACCCCATGCCGATTC 0.512 Ovarian(42;1009 1133 23674 26041) NA 9 23 0 0 0.008291 0 0 MLL4 9757 broad.mit.edu 37 19 36216509 36216509 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:36216509A>G uc010eei.2 + 13 3772 c.3772A>G c.(3772-3774)AAA>GAA p.K1258E NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1258 PHD-type 2. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTGGACGCAAAGGTCGTGG 0.637 NA 22 46 0 0 0.001523 0 0 NPHS1 4868 broad.mit.edu 37 19 36334447 36334447 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:36334447C>A uc002oby.2 - 17 2261 c.2261G>T c.(2260-2262)GGG>GTG p.G754V NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 754 Ig-like C2-type 7.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACAGAACCCCCGACGTTCAC 0.592 NA 26 37 4.02929e-09 6.07561e-09 0.002096 1 0 ZFP30 22835 broad.mit.edu 37 19 38127134 38127134 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:38127134C>A uc002ogv.1 - 6 824 c.308G>T c.(307-309)TGG>TTG p.W103L ZFP30_uc002ogw.1_Missense_Mutation_p.W103L|ZFP30_uc002ogx.1_Missense_Mutation_p.W103L|ZFP30_uc010xtt.1_Missense_Mutation_p.W102L NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATTACCTTCCACTGAGATAA 0.338 NA 19 20 1.33834e-09 2.0308e-09 0.007413 1 0 RYR1 6261 broad.mit.edu 37 19 38990296 38990296 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:38990296C>G uc002oit.2 + 44 7179 c.7049C>G c.(7048-7050)GCC>GGC p.A2350G RYR1_uc002oiu.2_Missense_Mutation_p.A2350G|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2350 Cytoplasmic.|6 X approximate repeats. A -> T (in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGGAGAACGCCAATGTGGTG 0.667 NA 3 17 0 0 0.004672 0 0 RYR1 6261 broad.mit.edu 37 19 39062816 39062816 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:39062816A>T uc002oit.2 + 95 14034 c.13904A>T c.(13903-13905)GAA>GTA p.E4635V RYR1_uc002oiu.2_Missense_Mutation_p.E4630V NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4635 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTCCTGGAGGAAAGCACAGGC 0.587 NA 25 48 0 0 0.005443 0 0 LRFN1 57622 broad.mit.edu 37 19 39805183 39805183 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:39805183C>A uc002okw.2 - 1 794 c.794G>T c.(793-795)CGG>CTG p.R265L NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 265 LRRCT.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCGGGTCAGCCGCCGCAGCCA 0.692 NA 6 1 1.06961e-07 1.54482e-07 0.00308 1 0 ADCK4 79934 broad.mit.edu 37 19 41220260 41220260 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:41220260C>A uc002oor.2 - 3 447 c.145G>T c.(145-147)GGG>TGG p.G49W ADCK4_uc002ooq.1_Missense_Mutation_p.G49W|ADCK4_uc002oos.2_Missense_Mutation_p.G49W|ITPKC_uc002oot.2_5'Flank NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 49 integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CTCCCAGGCCCATCCTGGTAA 0.602 NA 19 31 1.33834e-09 2.0308e-09 0.007413 1 0 CEACAM5 1048 broad.mit.edu 37 19 42219636 42219636 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:42219636C>A uc002ork.2 + 4 892 c.771C>A c.(769-771)CTC>CTA p.L257L CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Silent_p.L257L|CEACAM5_uc002orl.2_Silent_p.L257L NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 257 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ATCTGAACCTCTCCTGCCACG 0.498 NA 19 23 5.3912e-06 7.36491e-06 0.006122 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42410694 42410694 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:42410694C>A uc002orx.2 + 27 2686 c.2577C>A c.(2575-2577)GGC>GGA p.G859G ARHGEF1_uc002ory.2_Silent_p.G826G|ARHGEF1_uc002orz.2_Silent_p.G697G|ARHGEF1_uc002osa.2_Silent_p.G874G|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Silent_p.G518G|ARHGEF1_uc002ose.2_Silent_p.G303G NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 859 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TCCCAGGGGGCGGCCCCCTGA 0.677 NA 7 18 8.12818e-05 0.00010678 0.001984 1 0 ZNF225 7768 broad.mit.edu 37 19 44635327 44635327 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:44635327A>T uc002oyj.1 + 5 803 c.560A>T c.(559-561)TAT>TTT p.Y187F ZNF225_uc010eje.1_Missense_Mutation_p.Y104F|ZNF225_uc010ejf.1_Missense_Mutation_p.Y187F NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 187 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGTTTCTGTTATAGCTCAGCT 0.398 NA 20 33 0 0 0.007413 0 0 SYMPK 8189 broad.mit.edu 37 19 46357498 46357498 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:46357498C>A uc002pdn.2 - 3 351 c.106G>T c.(106-108)GTG>TTG p.V36L SYMPK_uc002pdo.1_Missense_Mutation_p.V36L|SYMPK_uc002pdp.1_Missense_Mutation_p.V36L|SYMPK_uc002pdq.1_Missense_Mutation_p.V36L NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 36 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGATCCACCACCTGGAAGGAG 0.632 NA 10 23 6.40141e-05 8.45586e-05 0.000978 1 0 DHX34 9704 broad.mit.edu 37 19 47876150 47876150 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:47876150G>C uc010xyn.1 + 8 2273 c.1932G>C c.(1930-1932)ACG>ACC p.T644T DHX34_uc010elc.1_Silent_p.T559T NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 644 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ACCCCTTCACGCTCTTCAACG 0.677 NA 11 16 0 0 0.00245 0 0 RASIP1 54922 broad.mit.edu 37 19 49238578 49238578 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:49238578C>A uc002pki.2 - 4 1251 c.1054G>T c.(1054-1056)GGG>TGG p.G352W NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 352 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) TCGGCTGCCCCTGGGGCCATG 0.647 NA 13 12 5.50884e-06 7.50423e-06 0.001368 1 0 SLC17A7 57030 broad.mit.edu 37 19 49933857 49933857 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:49933857G>T uc002pnp.2 - 12 1774 c.1602C>A c.(1600-1602)CCC>CCA p.P534P SLC17A7_uc002pno.2_Silent_p.P196P NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 534 Cytoplasmic (Potential).|Pro-rich. glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGGGTGCAGGGGGTGCCCCCG 0.652 NA 10 20 1.08611e-07 1.56628e-07 0.000978 1 0 ZNF677 342926 broad.mit.edu 37 19 53741621 53741621 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:53741621A>T uc002qbf.1 - 5 544 c.359T>A c.(358-360)ATG>AAG p.M120K ZNF677_uc002qbg.1_Missense_Mutation_p.M120K NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) GGTCAAAGGCATTCCTTTGTA 0.353 NA 24 49 0 0 0.00278 0 0 LILRA6 79168 broad.mit.edu 37 19 54744954 54744954 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:54744954G>T uc002qeu.1 - 5 832 c.708C>A c.(706-708)GCC>GCA p.A236A LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.A236A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.A236A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A236A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.A236A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.A236A|LILRA6_uc010yeq.1_Silent_p.A236A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.A97A NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 236 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGCCCAGGGGCCAGGACAG 0.642 NA 7 33 5.4927e-09 8.20483e-09 0.004482 1 0 LILRA2 11027 broad.mit.edu 37 19 55086271 55086271 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55086271G>A uc002qgg.3 + 4 515 c.426G>A c.(424-426)CAG>CAA p.Q142Q LILRA2_uc010ern.2_Silent_p.Q142Q|LILRA2_uc002qgf.2_Silent_p.Q142Q|LILRA2_uc010yfe.1_Silent_p.Q142Q|LILRA2_uc010yff.1_Silent_p.Q130Q|LILRA2_uc010ero.2_Silent_p.Q130Q|LILRA2_uc010yfg.1_Silent_p.Q142Q NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 142 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TGACCCTCCAGTGTGTCTCAC 0.557 NA 42 56 0 0 0.00874 0 0 LILRA1 11024 broad.mit.edu 37 19 55107261 55107261 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55107261C>A uc002qgh.1 + 6 1001 c.819C>A c.(817-819)CCC>CCA p.P273P LILRA2_uc010yfg.1_Silent_p.P271P|LILRA1_uc010yfh.1_Silent_p.P273P NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 273 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GCCCACAGCCCCAGGCTGGGC 0.597 NA 23 47 7.87624e-14 1.29559e-13 0.00278 1 0 NLRP2 55655 broad.mit.edu 37 19 55501966 55501966 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:55501966C>G uc002qij.2 + 10 2720 c.2634C>G c.(2632-2634)AAC>AAG p.N878K NLRP2_uc010yfp.1_Missense_Mutation_p.N855K|NLRP2_uc010esn.2_Missense_Mutation_p.N854K|NLRP2_uc010eso.2_Missense_Mutation_p.N875K|NLRP2_uc010esp.2_Missense_Mutation_p.N856K NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 878 LRR 3. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGGCCAAGAACCCCATTGGGA 0.537 NA 27 27 0 0 0.007291 0 0 NLRP13 126204 broad.mit.edu 37 19 56424536 56424536 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56424536T>A uc010ygg.1 - 5 672 c.647A>T c.(646-648)CAG>CTG p.Q216L NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 216 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGTAGGCGCTGCAGTTCCTC 0.512 NA 37 60 0 0 0.003755 0 0 NLRP8 126205 broad.mit.edu 37 19 56466135 56466135 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56466135C>A uc002qmh.2 + 3 782 c.711C>A c.(709-711)CGC>CGA p.R237R NLRP8_uc010etg.2_Silent_p.R237R NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 237 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCACAAGCGCTGGTGTGCTT 0.532 NA 32 42 1.61788e-16 2.84166e-16 0.002445 1 0 NLRP8 126205 broad.mit.edu 37 19 56467457 56467457 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:56467457C>A uc002qmh.2 + 3 2104 c.2033C>A c.(2032-2034)CCT>CAT p.P678H NLRP8_uc010etg.2_Missense_Mutation_p.P678H NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 678 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGCTCCCATCCTGGCTCTGAG 0.552 NA 16 27 3.45872e-05 4.60682e-05 0.004007 1 0 ZNF470 388566 broad.mit.edu 37 19 57085817 57085817 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57085817T>C uc002qnl.3 + 4 791 c.115T>C c.(115-117)TGG>CGG p.W39R ZNF470_uc010etn.2_RNA NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGGGAGTGGCTGAATCT 0.428 NA 45 53 0 0 0.002522 0 0 PEG3 5178 broad.mit.edu 37 19 57328466 57328466 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57328466C>A uc002qnu.2 - 7 1695 c.1344G>T c.(1342-1344)GGG>GGT p.G448G ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G419G|PEG3_uc002qnv.2_Silent_p.G448G|PEG3_uc002qnw.2_Silent_p.G324G|PEG3_uc002qnx.2_Silent_p.G322G|PEG3_uc010etr.2_Silent_p.G448G NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 448 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATGGCATTGCCCCAAAATCAA 0.483 NA 32 65 1.61788e-16 2.84166e-16 0.002445 1 0 ZNF543 125919 broad.mit.edu 37 19 57839116 57839116 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:57839116C>G uc002qoi.1 + 4 631 c.286C>G c.(286-288)CTG>GTG p.L96V NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTTTTCTCACCTGGCCTTGCC 0.458 NA 16 55 0 0 0.003163 0 0 ZNF132 7691 broad.mit.edu 37 19 58945522 58945522 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:58945522G>T uc002qst.3 - 3 1690 c.1289C>A c.(1288-1290)CCG>CAG p.P430Q NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 430 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCATTCATACGGTCTTTCTCC 0.468 NA 52 40 5.13769e-22 9.79531e-22 0.00361 1 0 FAM110C 642273 broad.mit.edu 37 2 45522 45522 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:45522C>T uc010yim.1 - 1 864 c.864G>A c.(862-864)GAG>GAA p.E288E NM_001077710 NP_001071178 Q1W6H9 F110C_HUMAN hypothetical protein LOC642273 288 microtubule|microtubule organizing center|spindle pole 0 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GGGCGTTCCTCTCGATGACCG 0.657 NA 9 52 0 0 0.008291 0 0 ATAD2B 54454 broad.mit.edu 37 2 24005766 24005766 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:24005766C>A uc002rek.3 - 22 3400 c.3106G>T c.(3106-3108)GAG>TAG p.E1036* ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Nonsense_Mutation_p.E276*|ATAD2B_uc002rej.3_Nonsense_Mutation_p.E204* NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1036 Bromo. ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATTATACTCTAAAGCATTG 0.358 NA 34 23 2.6416e-12 4.22216e-12 0.00623 1 0 CGREF1 10669 broad.mit.edu 37 2 27327173 27327173 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:27327173G>A uc010eys.1 - 2 204 c.62C>T c.(61-63)CCA>CTA p.P21L CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_5'UTR|CGREF1_uc002riq.2_Missense_Mutation_p.P21L|CGREF1_uc010eyr.1_Missense_Mutation_p.P143L|CGREF1_uc002rir.1_Missense_Mutation_p.P21L|CGREF1_uc002ris.2_Missense_Mutation_p.P21L NM_006569 NP_006560 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 21 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCATCCTTTGGGGCAGCCTG 0.562 NA 19 29 0 0 0.001882 0 0 IFT172 26160 broad.mit.edu 37 2 27676886 27676886 + Missense_Mutation SNP C C T rs141440865 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:27676886C>T uc002rku.2 - 33 3725 c.3674G>A c.(3673-3675)CGG>CAG p.R1225Q IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1225 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TCTCTGGGCCCGGAGCAGCAG 0.622 NA 50 81 0 0 0.00361 0 0 SRBD1 55133 broad.mit.edu 37 2 45778281 45778282 + Missense_Mutation DNP GC GC AT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:45778281_45778282GC>AT uc002rus.2 - 12 1733_1734 c.1657_1658GC>AT c.(1657-1659)GCT>ATT p.A553I SRBD1_uc010yoc.1_Missense_Mutation_p.A72I NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 553 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AGAAATTATAGCTAATTTGCAA 0.391 NA 22 30 0 0 0.004672 0 0 PSME4 23198 broad.mit.edu 37 2 54146345 54146345 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:54146345C>A uc002rxp.2 - 20 2515 c.2459G>T c.(2458-2460)TGT>TTT p.C820F PSME4_uc010yop.1_Missense_Mutation_p.C706F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.C195F|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 820 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCCAATTAAACAGTTGTGCAC 0.333 NA 20 40 5.35356e-11 8.37531e-11 0.00278 1 0 VRK2 7444 broad.mit.edu 37 2 58311222 58311222 + Splice_Site SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:58311222A>T uc002rzo.2 + 6 882 c.137_splice c.e6-2 p.A46_splice VRK2_uc010fcb.2_Splice_Site_p.A46_splice|VRK2_uc002rzs.2_Splice_Site_p.A46_splice|VRK2_uc002rzr.2_Splice_Site_p.A46_splice|VRK2_uc010fcc.2_Splice_Site|VRK2_uc002rzv.2_Splice_Site_p.A46_splice|VRK2_uc010fcd.2_Splice_Site_p.A23_splice|VRK2_uc002rzp.2_Splice_Site_p.A46_splice|VRK2_uc010ypg.1_Splice_Site_p.A46_splice|VRK2_uc002rzq.2_Splice_Site_p.A46_splice|VRK2_uc002rzu.2_Splice_Site_p.A46_splice|VRK2_uc002rzt.2_Splice_Site|VRK2_uc010yph.1_5'Flank NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 TTTTGTCTGCAGCTTTCCCCA 0.229 NA 36 55 0 0 0.004878 0 0 USP34 9736 broad.mit.edu 37 2 61571046 61571046 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:61571046C>A uc002sbe.2 - 16 2426 c.2404G>T c.(2404-2406)GAG>TAG p.E802* NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 802 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGAACTAGCTCCTCTTCACAT 0.398 NA 20 73 1.33834e-09 2.0308e-09 0.007413 1 0 DYSF 8291 broad.mit.edu 37 2 71892314 71892314 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:71892314G>C uc002sie.2 + 46 5456 c.5080G>C c.(5080-5082)GAC>CAC p.D1694H DYSF_uc010feg.2_Missense_Mutation_p.D1725H|DYSF_uc010feh.2_Missense_Mutation_p.D1701H|DYSF_uc002sig.3_Missense_Mutation_p.D1680H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1715H|DYSF_uc010fef.2_Missense_Mutation_p.D1732H|DYSF_uc010fei.2_Missense_Mutation_p.D1711H|DYSF_uc010fek.2_Missense_Mutation_p.D1712H|DYSF_uc010fej.2_Missense_Mutation_p.D1702H|DYSF_uc010fel.2_Missense_Mutation_p.D1681H|DYSF_uc010feo.2_Missense_Mutation_p.D1726H|DYSF_uc010fem.2_Missense_Mutation_p.D1716H|DYSF_uc010fen.2_Missense_Mutation_p.D1733H|DYSF_uc002sif.2_Missense_Mutation_p.D1695H|DYSF_uc010yqy.1_Missense_Mutation_p.D575H|DYSF_uc010yqz.1_Missense_Mutation_p.D455H NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1694 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CCAGTGGCGGGACCAGCTCCG 0.562 NA 28 69 0 0 0.002836 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315800 73315800 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:73315800C>A uc002siu.3 - 3 1187 c.946G>T c.(946-948)GCT>TCT p.A316S RAB11FIP5_uc002sit.3_Missense_Mutation_p.A238S NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 316 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CGAGGAGGAGCCACTCGCATC 0.592 NA 9 8 1.12685e-05 1.52204e-05 0.004482 1 0 MRPL19 9801 broad.mit.edu 37 2 75881930 75881930 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:75881930C>T uc002snl.2 + 5 569 c.544C>T c.(544-546)CGG>TGG p.R182W MRPL19_uc002snm.1_Missense_Mutation_p.R182W NM_014763 NP_055578 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 precursor 182 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome 0 ATTAGAGAAACGGCTGGATGA 0.388 NA 17 66 0 0 0.007413 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745606 77745606 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:77745606C>A uc002snr.2 - 3 1804 c.1389G>T c.(1387-1389)ATG>ATT p.M463I LRRTM4_uc002snq.2_Missense_Mutation_p.M463I|LRRTM4_uc002sns.2_Missense_Mutation_p.M463I|LRRTM4_uc002snt.2_Missense_Mutation_p.M464I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 463 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GCCGCCTCTTCATAAGAGAGT 0.473 NA 19 19 7.07596e-05 9.33404e-05 0.006122 1 0 REG3A 5068 broad.mit.edu 37 2 79385835 79385835 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:79385835G>T uc002sod.1 - 2 392 c.137C>A c.(136-138)GCC>GAC p.A46D REG3A_uc002soe.1_Missense_Mutation_p.A46D|REG3A_uc002sof.1_Missense_Mutation_p.A46D NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 46 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GGAGCCATAGGCCTTGGAGCC 0.547 NA 22 22 3.5997e-14 5.99325e-14 0.002299 1 0 SLC9A4 389015 broad.mit.edu 37 2 103148809 103148809 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:103148809G>T uc002tbz.3 + 12 2516 c.2059G>T c.(2059-2061)GGA>TGA p.G687* NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 687 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CAGTGATCCAGGATCCCCATC 0.453 NA 22 90 2.70639e-06 3.72372e-06 0.002299 1 0 SLC5A7 60482 broad.mit.edu 37 2 108618393 108618393 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:108618393C>T uc002tdv.2 + 6 914 c.638C>T c.(637-639)GCA>GTA p.A213V SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A213V|SLC5A7_uc010ywn.1_Missense_Mutation_p.A100V NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 213 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CCTGCAGTCGCAGACATCGGG 0.488 NA 21 69 0 0 0.00333 0 0 POTEF 728378 broad.mit.edu 37 2 130832405 130832405 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:130832405C>A uc010fmh.2 - 17 3040 c.2640G>T c.(2638-2640)CTG>CTT p.L880L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 880 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 CCCGCCCAGCCAGGTCTAGGC 0.592 NA 18 25 3.52763e-06 4.83286e-06 0.00499 1 0 THSD7B 80731 broad.mit.edu 37 2 137988717 137988717 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:137988717G>C uc002tva.1 + 7 1734 c.1734G>C c.(1732-1734)GAG>GAC p.E578D THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E468D NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTGGACGGAGTGGTCATCCT 0.512 NA 10 17 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141643783 141643783 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:141643783G>A uc002tvj.1 - 24 4860 c.3888C>T c.(3886-3888)CAC>CAT p.H1296H LRP1B_uc010fnl.1_Silent_p.H478H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1296 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGATTGAAGTGAAAATCAA 0.333 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 28 0 0 0.00245 0 0 TTN 7273 broad.mit.edu 37 2 179397732 179397732 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179397732C>T uc010zfg.1 - 307 96130 c.95906G>A c.(95905-95907)CGG>CAG p.R31969Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25664Q|TTN_uc010zfi.1_Missense_Mutation_p.R25597Q|TTN_uc010zfj.1_Missense_Mutation_p.R25472Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32896 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAAGGCATCCGGAGTTTTCT 0.458 NA 53 154 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179463659 179463660 + Missense_Mutation DNP GG GG TC TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179463659_179463660GG>TC uc010zfg.1 - 240 49297_49298 c.49073_49074CC>GA c.(49072-49074)ACC>AGA p.T16358R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T10053R|TTN_uc010zfi.1_Missense_Mutation_p.T9986R|TTN_uc010zfj.1_Missense_Mutation_p.T9861R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17285 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTGAAGTGGTGTCTTTCAT 0.455 NA 10 37 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179579280 179579280 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179579280T>G uc010zfg.1 - 88 22713 c.22489A>C c.(22489-22491)AAG>CAG p.K7497Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4158Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8424 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACTGAGCTTCTTCACAAAT 0.438 NA 20 17 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179590619 179590619 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179590619T>A uc010zfg.1 - 67 16922 c.16698A>T c.(16696-16698)GCA>GCT p.A5566A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A2227A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6493 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTTTGGATGCAATCTTGT 0.428 NA 24 15 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179592015 179592015 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179592015C>A uc010zfg.1 - 66 16569 c.16345G>T c.(16345-16347)GGA>TGA p.G5449* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G2110* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6376 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGGGGATCCAGCTATCTTG 0.418 NA 33 13 1.04352e-10 1.62456e-10 0.003755 1 0 TTN 7273 broad.mit.edu 37 2 179642533 179642533 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179642533C>G uc010zfg.1 - 25 4602 c.4378G>C c.(4378-4380)GTG>CTG p.V1460L TTN_uc010zfh.1_Missense_Mutation_p.V1414L|TTN_uc010zfi.1_Missense_Mutation_p.V1414L|TTN_uc010zfj.1_Missense_Mutation_p.V1414L|TTN_uc002unb.2_Missense_Mutation_p.V1460L|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1460 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTTTAACACAAAGACTGGT 0.448 NA 22 71 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179648463 179648463 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179648463G>A uc010zfg.1 - 17 3049 c.2825C>T c.(2824-2826)CCA>CTA p.P942L TTN_uc010zfh.1_Missense_Mutation_p.P896L|TTN_uc010zfi.1_Missense_Mutation_p.P896L|TTN_uc010zfj.1_Missense_Mutation_p.P896L|TTN_uc002unb.2_Missense_Mutation_p.P942L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 942 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAAGTTGGTGGAGTAACAGG 0.353 NA 23 72 0 0 0.00632 0 0 TTN 7273 broad.mit.edu 37 2 179650358 179650358 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179650358G>T uc010zfg.1 - 15 2706 c.2482C>A c.(2482-2484)CAT>AAT p.H828N TTN_uc010zfh.1_Missense_Mutation_p.H782N|TTN_uc010zfi.1_Missense_Mutation_p.H782N|TTN_uc010zfj.1_Missense_Mutation_p.H782N|TTN_uc002unb.2_Missense_Mutation_p.H828N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 828 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATATCCATGTTCTGTCTTA 0.408 NA 16 55 1.45105e-14 2.44562e-14 0.006122 1 0 CCDC141 285025 broad.mit.edu 37 2 179702023 179702023 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:179702023T>A uc002unf.1 - 13 2255 c.2198A>T c.(2197-2199)AAG>ATG p.K733M CCDC141_uc002une.1_Missense_Mutation_p.K183M NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 733 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGCAGTACTCTTTTCCACGAA 0.478 NA 22 53 0 0 0.001882 0 0 CERKL 375298 broad.mit.edu 37 2 182423388 182423388 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:182423388G>T uc002unx.2 - 6 904 c.803C>A c.(802-804)GCT>GAT p.A268D CERKL_uc002uny.2_Missense_Mutation_p.A242D|CERKL_uc010zfm.1_Missense_Mutation_p.A224D|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.A37D|CERKL_uc002uoe.2_Missense_Mutation_p.A242D NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 268 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAGAAGCAAAGCATGGGCTAC 0.453 NA 22 99 1.50039e-11 2.38224e-11 0.001882 1 0 ITGAV 3685 broad.mit.edu 37 2 187529932 187529932 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:187529932A>G uc002upq.2 + 21 2429 c.2153A>G c.(2152-2154)AAG>AGG p.K718R ITGAV_uc010frs.2_Missense_Mutation_p.K682R|ITGAV_uc010zfv.1_Missense_Mutation_p.K672R NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 718 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AACCCAATGAAGGCTGGAACT 0.363 Melanoma(58;108 1995 6081) NA 10 267 0 0 0.000978 0 0 COL3A1 1281 broad.mit.edu 37 2 189862437 189862437 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:189862437T>A uc002uqj.1 + 27 1998 c.1881T>A c.(1879-1881)GGT>GGA p.G627G NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 627 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGCCTGGTGGTGACAAAGGAG 0.383 NA 105 39 0 0 0.00361 0 0 COL5A2 1290 broad.mit.edu 37 2 189899873 189899873 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:189899873A>T uc002uqk.2 - 53 4397 c.4122T>A c.(4120-4122)TAT>TAA p.Y1374* COL5A2_uc010frx.2_Nonsense_Mutation_p.Y950* NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1374 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTGGTCTCCATAAGCGAACT 0.348 NA 16 337 0 0 0.007413 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428941 190428941 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:190428941T>A uc002uqp.3 - 7 1122 c.771A>T c.(769-771)CCA>CCT p.P257P NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 257 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CCAGGGGTTTTGGCTCAGTAT 0.418 NA 102 62 0 0 0.00361 0 0 HECW2 57520 broad.mit.edu 37 2 197184519 197184519 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:197184519C>A uc002utm.1 - 9 1278 c.1095G>T c.(1093-1095)CAG>CAT p.Q365H HECW2_uc002utl.1_Missense_Mutation_p.Q9H NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 365 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.Q365H(1) skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TAGAGCACACCTGGCTGTCGT 0.517 NA 14 43 0.000151284 0.000197659 0.001855 1 0 KCTD18 130535 broad.mit.edu 37 2 201363800 201363800 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:201363800G>T uc002uvs.2 - 4 897 c.380C>A c.(379-381)ACA>AAA p.T127K KCTD18_uc002uvt.2_Missense_Mutation_p.T127K|KCTD18_uc002uvu.1_Missense_Mutation_p.T127K NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 127 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 ACAGAAGTCTGTTAAAGCCTA 0.308 NA 25 79 2.39556e-15 4.11711e-15 0.00278 1 0 CTLA4 1493 broad.mit.edu 37 2 204732769 204732769 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:204732769G>A uc002vak.1 + 1 261 c.104G>A c.(103-105)TGC>TAC p.C35Y CTLA4_uc002val.1_Missense_Mutation_p.C35Y|CTLA4_uc010fty.1_Missense_Mutation_p.C35Y|CTLA4_uc010ftz.1_RNA NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 35 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) CCTGTCTTCTGCAAAGGTGAG 0.488 NA 22 137 0 0 0.002299 0 0 CTLA4 1493 broad.mit.edu 37 2 204735330 204735330 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:204735330C>T uc002vak.1 + 2 288 c.131C>T c.(130-132)GCT>GTT p.A44V CTLA4_uc002val.1_Missense_Mutation_p.A44V|CTLA4_uc010fty.1_Missense_Mutation_p.A44V|CTLA4_uc010ftz.1_Intron NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 44 Ig-like V-type.|Extracellular (Potential). B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) GCCCAGCCTGCTGTGGTACTG 0.582 NA 200 40 0 0 0.00361 0 0 EEF1B2 1933 broad.mit.edu 37 2 207027262 207027263 + Missense_Mutation DNP GG GG TT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:207027262_207027263GG>TT uc002vbf.1 + 6 605_606 c.447_448GG>TT c.(445-450)TGGGAT>TGTTAT p.149_150WD>CY EEF1B2_uc002vbg.1_Missense_Mutation_p.149_150WD>CY|EEF1B2_uc002vbh.1_Missense_Mutation_p.149_150WD>CY NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 149_150 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 TGAAACCTTGGGATGATGAGAC 0.391 NA 138 105 0 0 0.004672 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171188 207171188 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:207171188A>G uc002vbp.2 + 5 2186 c.1936A>G c.(1936-1938)ATA>GTA p.I646V NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 646 Potential. nucleic acid binding|zinc ion binding ovary(3) 3 TGTTGAAAAGATAAATCTTCT 0.423 NA 17 112 0 0 0.00499 0 0 CRYGC 1420 broad.mit.edu 37 2 208992948 208992948 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:208992948C>A uc002vco.3 - 3 542 c.504G>T c.(502-504)CGG>CGT p.R168R NM_020989 NP_066269 P07315 CRGC_HUMAN crystallin, gamma C 168 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CCACCACTCTCCGCAAAGAGC 0.502 NA 53 216 7.89702e-26 1.56149e-25 0.00361 1 0 MAP2 4133 broad.mit.edu 37 2 210559792 210559792 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:210559792G>T uc002vde.1 + 7 3146 c.2898G>T c.(2896-2898)AAG>AAT p.K966N MAP2_uc002vdc.1_Missense_Mutation_p.K966N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K962N NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 966 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TACTAGAAAAGAGTGAAGAAC 0.403 Pancreas(27;423 979 28787 29963) NA 34 33 2.42023e-17 4.33832e-17 0.003271 1 0 C2orf67 151050 broad.mit.edu 37 2 210888902 210888902 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:210888902C>A uc002vds.2 - 14 2796 c.2588G>T c.(2587-2589)GGA>GTA p.G863V C2orf67_uc002vdt.2_Missense_Mutation_p.G821V NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 863 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) CAAGTCCTGTCCTTCAACATT 0.383 NA 10 32 0.000673444 0.000859964 0.008291 1 0 CPS1 1373 broad.mit.edu 37 2 211515147 211515147 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:211515147G>T uc002vee.3 + 28 3597 c.3465G>T c.(3463-3465)GCG>GCT p.A1155A CPS1_uc010fur.2_Silent_p.A1161A|CPS1_uc010fus.2_Silent_p.A704A NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1155 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TAGAAGAGGCGACTAGAGTTT 0.368 NA 24 32 3.6726e-16 6.41535e-16 0.003954 1 0 WNT6 7475 broad.mit.edu 37 2 219736268 219736268 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:219736268G>T uc002vjc.1 + 3 578 c.363G>T c.(361-363)ACG>ACT p.T121T NM_006522 NP_006513 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, 121 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(2)|skin(1) 3 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACGCCGTCACGCAGGCCTGTT 0.473 NA 4 7 5.16669e-11 8.09616e-11 0.000978 1 0 ATG9A 79065 broad.mit.edu 37 2 220087103 220087103 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:220087103G>A uc002vke.1 - 12 2104 c.1918C>T c.(1918-1920)CAG>TAG p.Q640* ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Nonsense_Mutation_p.Q640* NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 640 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGAGCCCTGCAGGTCTCTG 0.642 NA 37 24 0 0 0.005524 0 0 SLC4A3 6508 broad.mit.edu 37 2 220505593 220505593 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:220505593C>A uc002vmp.3 + 22 3799 c.3530C>A c.(3529-3531)GCC>GAC p.A1177D SLC4A3_uc002vmo.3_Missense_Mutation_p.A1204D|SLC4A3_uc010fwm.2_Missense_Mutation_p.A727D NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 1177 Membrane (anion exchange).|Helical; (Potential). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCACGGCGGCCTCACTCGCC 0.642 NA 5 32 1.23904e-05 1.6642e-05 0.000602 1 0 SERPINE2 5270 broad.mit.edu 37 2 224862898 224862898 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:224862898C>A uc002vnu.2 - 3 664 c.421G>T c.(421-423)GTG>TTG p.V141L SERPINE2_uc002vnt.2_Missense_Mutation_p.V141L|SERPINE2_uc010zlr.1_Missense_Mutation_p.V153L|SERPINE2_uc002vnv.2_Missense_Mutation_p.V141L NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 141 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAAGTTCACATTCCGGACC 0.453 NA 8 37 3.09899e-07 4.42251e-07 0.004482 1 0 CCL20 6364 broad.mit.edu 37 2 228681074 228681074 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:228681074G>C uc002vpl.2 + 3 313 c.243G>C c.(241-243)TGG>TGC p.W81C CCL20_uc002vpm.2_Missense_Mutation_p.W80C NM_004591 NP_004582 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 isoform 1 81 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity 0 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) AACAGACTTGGGTGAAATATA 0.398 NA 17 49 0 0 0.008871 0 0 DNER 92737 broad.mit.edu 37 2 230253070 230253070 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:230253070G>T uc002vpv.2 - 11 1913 c.1766C>A c.(1765-1767)CCC>CAC p.P589H NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 589 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ATGGTGGCAGGGGTTACTGTC 0.502 NA 29 85 5.45727e-16 9.51549e-16 0.008361 1 0 NMUR1 10316 broad.mit.edu 37 2 232393341 232393341 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:232393341C>A uc002vry.3 - 2 501 c.391G>T c.(391-393)GTT>TTT p.V131F NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 131 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CAGCCACCAACGCCCAGCAGG 0.612 NA 36 26 2.42023e-17 4.33832e-17 0.003271 1 0 UGT1A3 54659 broad.mit.edu 37 2 234638412 234638412 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:234638412A>T uc002vuy.2 + 1 640 c.640A>T c.(640-642)ATG>TTG p.M214L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.M214L NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 214 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGTCAAGAACATGCTCTACCC 0.463 NA 58 139 0 0 0.00361 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239237863 239237863 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:239237863G>T uc002vye.2 + 5 914 c.795G>T c.(793-795)AGG>AGT p.R265S TRAF3IP1_uc002vyf.2_Missense_Mutation_p.R265S NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 265 Abolishes microtubules-binding when missing.|DISC1-interaction domain.|Arg-rich. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) tgagagacagggaccgagagc 0.109 NA 5 12 0.000602214 0.000770031 0.000602 1 0 FARP2 9855 broad.mit.edu 37 2 242343347 242343347 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:242343347G>C uc002wbi.1 + 3 405 c.288G>C c.(286-288)TGG>TGC p.W96C FARP2_uc010zoq.1_Missense_Mutation_p.W96C|FARP2_uc010zor.1_Missense_Mutation_p.W96C NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 96 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGTCCTACTGGGTAAGTGCTT 0.468 NA 13 28 0 0 0.001855 0 0 C20orf54 113278 broad.mit.edu 37 20 744613 744613 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:744613C>A uc002wed.3 - 3 941 c.602G>T c.(601-603)GGA>GTA p.G201V C20orf54_uc002wee.2_Missense_Mutation_p.G201V NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 201 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 TGCTTCCATTCCGGGGAGGGC 0.587 NA 8 14 0.00307968 0.00388096 0.00308 1 0 TMC2 117532 broad.mit.edu 37 20 2597940 2597940 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:2597940T>A uc002wgf.1 + 16 2178 c.2163T>A c.(2161-2163)TTT>TTA p.F721L TMC2_uc002wgg.1_Missense_Mutation_p.F705L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 721 Extracellular (Potential). integral to membrane ovary(3) 3 CACCCTCCTTTGACTGCGGGC 0.632 NA 5 59 0 0 0.000602 0 0 PAK7 57144 broad.mit.edu 37 20 9561076 9561076 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:9561076G>A uc002wnl.2 - 5 1251 c.706C>T c.(706-708)CCT>TCT p.P236S PAK7_uc002wnk.2_Missense_Mutation_p.P236S|PAK7_uc002wnj.2_Missense_Mutation_p.P236S|PAK7_uc010gby.1_Missense_Mutation_p.P236S NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 236 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTTCTAGAAGGTGTGAATTGG 0.517 NA 31 66 0 0 0.001786 0 0 PCSK2 5126 broad.mit.edu 37 20 17462628 17462628 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:17462628G>T uc002wpm.2 + 12 2150 c.1830G>T c.(1828-1830)AAG>AAT p.K610N PCSK2_uc002wpl.2_Missense_Mutation_p.K591N|PCSK2_uc010zrm.1_Missense_Mutation_p.K575N|PCSK2_uc002wpn.2_Missense_Mutation_p.K264N NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 610 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCAGTCCAAGTTGGCCATGT 0.582 NA 7 32 0.00198382 0.00250656 0.001984 1 0 CST9 128822 broad.mit.edu 37 20 23584167 23584167 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:23584167G>T uc002wtl.2 - 2 569 c.460C>A c.(460-462)CCG>ACG p.P154T NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 154 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) TTGTCCCTCGGAATGGCTTTG 0.582 NA 12 32 4.93089e-13 8.05575e-13 0.00245 1 0 CST9 128822 broad.mit.edu 37 20 23586332 23586332 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:23586332G>A uc002wtl.2 - 1 279 c.170C>T c.(169-171)ACT>ATT p.T57I NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 57 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) CACGTTGAAAGTGTTCAAGGC 0.498 NA 47 210 0 0 0.00361 0 0 NINL 22981 broad.mit.edu 37 20 25450719 25450719 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:25450719A>G uc002wux.1 - 18 3335 c.3261T>C c.(3259-3261)CAT>CAC p.H1087H NINL_uc010gdn.1_Silent_p.H738H NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1087 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CAGAAAGTCTATGGAACTCCA 0.507 NA OREG0025846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 68 120 0 0 0.00361 0 0 C20orf186 149954 broad.mit.edu 37 20 31671678 31671678 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:31671678G>T uc010zue.1 + 3 690 c.675G>T c.(673-675)ACG>ACT p.T225T NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 225 Gly-rich. cytoplasm|extracellular region lipid binding 0 AAGGCATCACGGGGTAAGGAG 0.627 NA 26 44 5.61819e-17 1.00146e-16 0.005443 1 0 ZNF341 84905 broad.mit.edu 37 20 32357916 32357916 + Nonsense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:32357916T>A uc002wzy.2 + 10 1460 c.1440T>A c.(1438-1440)TGT>TGA p.C480* ZNF341_uc002wzx.2_Nonsense_Mutation_p.C473*|ZNF341_uc010geq.2_Nonsense_Mutation_p.C390*|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 480 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCAAAAGCTGTGCCCAGACGT 0.592 NA 11 40 0 0 0.008291 0 0 GDF5 8200 broad.mit.edu 37 20 34021804 34021804 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:34021804C>A uc002xck.1 - 2 1728 c.1409G>T c.(1408-1410)CGG>CTG p.R470L GDF5_uc010gfc.1_Missense_Mutation_p.R470L|uc002xcj.2_Missense_Mutation_p.P72Q|GDF5_uc010zvc.1_Missense_Mutation_p.R470L NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 470 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGGACTCAGCCGCGTGGGCAC 0.577 NA 39 38 2.05212e-20 3.87398e-20 0.005524 1 0 EMILIN3 90187 broad.mit.edu 37 20 39991455 39991455 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:39991455G>A uc002xjy.1 - 4 978 c.754C>T c.(754-756)CTA>TTA p.L252L NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 252 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) ACCTTGCTTAGGATCTCGTCT 0.602 NA 23 34 0 0 0.00278 0 0 PTPRT 11122 broad.mit.edu 37 20 40714398 40714398 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:40714398G>A uc002xkg.2 - 28 4126 c.3942C>T c.(3940-3942)CAC>CAT p.H1314H PTPRT_uc010ggj.2_Silent_p.H1333H|PTPRT_uc010ggi.2_Silent_p.H517H NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1314 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.T1314A(1) skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAATATTCTGTGGATGATGT 0.577 NA 56 58 0 0 0.00361 0 0 L3MBTL 26013 broad.mit.edu 37 20 42159463 42159463 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:42159463G>T uc010zwh.1 + 11 1198 c.1152G>T c.(1150-1152)TGG>TGT p.W384C L3MBTL_uc002xkl.2_Missense_Mutation_p.W316C|L3MBTL_uc002xkm.2_Missense_Mutation_p.W316C|L3MBTL_uc010ggl.2_Missense_Mutation_p.W316C|L3MBTL_uc002xkn.1_Missense_Mutation_p.W75C|L3MBTL_uc002xko.2_5'Flank NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 316 MBT 2. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGTTCAGCTGGAGCCAGTACC 0.622 NA 16 33 3.41278e-10 5.2788e-10 0.00499 1 0 MYBL2 4605 broad.mit.edu 37 20 42331433 42331433 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:42331433G>T uc002xlb.1 + 8 1470 c.1255G>T c.(1255-1257)GCT>TCT p.A419S MYBL2_uc010zwj.1_Missense_Mutation_p.A395S|MYBL2_uc002xla.1_Missense_Mutation_p.A419S NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 419 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAGGCGTGTGGCTCTGTCCCC 0.612 NA 36 37 4.34311e-12 6.91867e-12 0.003271 1 0 SLC12A5 57468 broad.mit.edu 37 20 44664148 44664148 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:44664148G>A uc010zxl.1 + 3 398 c.322G>A c.(322-324)GAG>AAG p.E108K SLC12A5_uc002xra.2_Missense_Mutation_p.E85K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E85K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 108 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGAAAACAATGAGGGTGGAAA 0.398 NA 37 65 0 0 0.004878 0 0 SLC12A5 57468 broad.mit.edu 37 20 44674636 44674636 + Splice_Site SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:44674636G>A uc010zxl.1 + 13 1833 c.1757_splice c.e13+1 p.M586_splice SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.M563_splice NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCTCTCTATGTGCGTGCCTG 0.582 NA 80 181 0 0 0.00361 0 0 SULF2 55959 broad.mit.edu 37 20 46331302 46331302 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:46331302C>A uc002xto.2 - 4 858 c.528G>T c.(526-528)CGG>CGT p.R176R SULF2_uc002xtr.2_Silent_p.R176R|SULF2_uc002xtq.2_Silent_p.R176R|SULF2_uc010ghv.1_Silent_p.R176R NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 176 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TCACCCCGTTCCGACACAGCG 0.458 NA 16 32 4.7546e-09 7.12448e-09 0.004007 1 0 PREX1 57580 broad.mit.edu 37 20 47307504 47307504 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:47307504G>T uc002xtw.1 - 9 1190 c.1167C>A c.(1165-1167)CGC>CGA p.R389R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 389 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTCCCGCTCGCGGATGATGG 0.592 NA 40 47 2.51966e-14 4.21702e-14 0.00361 1 0 PTPN1 5770 broad.mit.edu 37 20 49177900 49177900 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:49177900G>T uc002xvl.2 + 2 238 c.64G>T c.(64-66)GAT>TAT p.D22Y PTPN1_uc010zys.1_Intron NM_002827 NP_002818 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 22 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding 0 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) TTTTTTGTAGGATATCCGACA 0.443 NA 25 45 4.47668e-21 8.50126e-21 0.003954 1 0 CBLN4 140689 broad.mit.edu 37 20 54579055 54579055 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:54579055G>T uc002xxa.2 - 1 958 c.173C>A c.(172-174)TCC>TAC p.S58Y NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 58 cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) CCCCAGCGGGGAGGAAGAGGA 0.657 NA 37 46 1.06647e-15 1.8528e-15 0.003755 1 0 SYCP2 10388 broad.mit.edu 37 20 58461890 58461890 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:58461890C>T uc002yaz.2 - 24 2504 c.2365_splice c.e24-1 p.R789_splice NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACTTTTCTCTCTGAAAAAAAT 0.269 NA 25 26 0 0 0.00278 0 0 C20orf177 63939 broad.mit.edu 37 20 58519910 58519910 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:58519910G>T uc002yba.2 + 5 1327 c.912G>T c.(910-912)CAG>CAT p.Q304H C20orf177_uc010zzx.1_Missense_Mutation_p.Q147H|C20orf177_uc002ybc.2_Missense_Mutation_p.Q304H NM_022106 NP_071389 Q9NTX9 CT177_HUMAN hypothetical protein LOC63939 304 ovary(2)|breast(1) 3 all_lung(29;0.00693) BRCA - Breast invasive adenocarcinoma(7;1.22e-08) CGAAGCTGCAGCGCTGGGATC 0.483 NA 25 53 9.86323e-18 1.78133e-17 0.003954 1 0 DIDO1 11083 broad.mit.edu 37 20 61542745 61542745 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:61542745C>A uc002ydr.1 - 3 484 c.220G>T c.(220-222)GTG>TTG p.V74L DIDO1_uc002yds.1_Missense_Mutation_p.V74L|DIDO1_uc002ydt.1_Missense_Mutation_p.V74L|DIDO1_uc002ydu.1_Missense_Mutation_p.V74L|DIDO1_uc002ydv.1_Missense_Mutation_p.V74L|DIDO1_uc002ydw.1_Missense_Mutation_p.V74L|DIDO1_uc002ydx.1_Missense_Mutation_p.V74L|DIDO1_uc011aao.1_Missense_Mutation_p.V74L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 74 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AACTGCTCCACGCGCTCAGTG 0.711 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 18 20 1.33834e-09 2.0308e-09 0.007413 1 0 COL20A1 57642 broad.mit.edu 37 20 61959818 61959818 + Nonsense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:61959818G>A uc011aau.1 + 34 3849 c.3749G>A c.(3748-3750)TGG>TAG p.W1250* COL20A1_uc011aav.1_Nonsense_Mutation_p.W1077* NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1250 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCTGGAGAATGGGGGCGTGGT 0.701 NA 11 18 0 0 0.00245 0 0 NCAM2 4685 broad.mit.edu 37 21 22881243 22881243 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:22881243G>C uc002yld.1 + 16 2398 c.2149G>C c.(2149-2151)GTG>CTG p.V717L NCAM2_uc011acb.1_Missense_Mutation_p.V575L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 717 Helical; (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCTAATTCTTGTGGTAACAGA 0.418 NA 30 8 0 0 0.003271 0 0 IL10RB 3588 broad.mit.edu 37 21 34655489 34655489 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:34655489G>C uc002yrk.1 + 5 688 c.589G>C c.(589-591)GAT>CAT p.D197H IL10RB_uc002yrh.1_Missense_Mutation_p.D267H|IL10RB_uc002yri.1_Missense_Mutation_p.D150H|IL10RB_uc002yrl.1_Missense_Mutation_p.D199H NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 197 Fibronectin type-III.|Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 GTTTCTTCCTGATCGGAACAA 0.478 Melanoma(67;315 1275 21667 21943 44564) NA 3 44 0 0 0.004672 0 0 IFNAR1 3454 broad.mit.edu 37 21 34721562 34721562 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:34721562G>T uc002yrn.2 + 7 1101 c.954G>T c.(952-954)TGG>TGT p.W318C IFNAR1_uc011adv.1_Missense_Mutation_p.W249C NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 318 Fibronectin type-III 2.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CATCTTTTTGGTCTGAAGAGA 0.343 Esophageal Squamous(73;817 1211 32990 35667 42746) NA 47 9 3.21987e-24 6.25072e-24 0.00361 1 0 PCNT 5116 broad.mit.edu 37 21 47754463 47754463 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr21:47754463A>G uc002zji.3 + 3 527 c.420A>G c.(418-420)CCA>CCG p.P140P PCNT_uc002zjj.2_Silent_p.P22P|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 140 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) ACCACCCACCAGAACAGCGTG 0.542 NA 3 47 0 0 0.000248 0 0 PRODH 5625 broad.mit.edu 37 22 18918567 18918567 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:18918567C>T uc010grl.2 - 2 432 c.418G>A c.(418-420)GCC>ACC p.A140T PRODH_uc002zoj.3_Missense_Mutation_p.A30T|PRODH_uc002zol.3_Missense_Mutation_p.A30T|PRODH_uc002zok.3_Missense_Mutation_p.A140T NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 140 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) TCCAGGATGGCGCTGACACCG 0.597 NA 11 48 0 0 0.008291 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747120 26747120 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:26747120G>T uc003acb.2 + 12 2666 c.2510G>T c.(2509-2511)GGT>GTT p.G837V SEZ6L_uc003acc.2_Missense_Mutation_p.G837V|SEZ6L_uc011akc.1_Missense_Mutation_p.G837V|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.G837V|SEZ6L_uc003ace.2_Missense_Mutation_p.G837V|SEZ6L_uc003acf.1_Missense_Mutation_p.G610V|SEZ6L_uc010gvc.1_Missense_Mutation_p.G610V|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 837 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 TGCAACCCCGGTTTTGTGCTT 0.572 NA 12 34 2.27111e-07 3.25074e-07 0.001368 1 0 MN1 4330 broad.mit.edu 37 22 28146947 28146947 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:28146947C>T uc003adj.2 - 2 4874 c.3919G>A c.(3919-3921)GAC>AAC p.D1307N MN1_uc010gvg.2_RNA NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1307 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 TTGGAGATGTCAGAATGCAGG 0.458 NA T ETV6 AML|meningioma 16 24 0 0 0.004007 0 0 INPP5J 27124 broad.mit.edu 37 22 31529925 31529925 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:31529925C>A uc003aju.3 + 13 2633 c.2541C>A c.(2539-2541)GCC>GCA p.A847A INPP5J_uc003ajv.3_Silent_p.A480A|INPP5J_uc003ajs.3_Silent_p.A480A|INPP5J_uc011alk.1_Silent_p.A780A|INPP5J_uc010gwg.2_Silent_p.A412A|INPP5J_uc003ajw.2_3'UTR|INPP5J_uc003ajt.3_Silent_p.A479A|INPP5J_uc003ajx.2_Silent_p.A212A|INPP5J_uc003ajy.2_Silent_p.A186A|INPP5J_uc003ajz.2_Silent_p.A287A NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 847 Ser-rich. cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 CGGAGTTGGCCAGCAGCAGCA 0.647 NA 15 19 3.32936e-07 4.74421e-07 0.006122 1 0 MCM5 4174 broad.mit.edu 37 22 35806852 35806852 + Nonsense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:35806852C>T uc003anu.3 + 7 962 c.868C>T c.(868-870)CGA>TGA p.R290* MCM5_uc010gwr.2_Nonsense_Mutation_p.R99*|MCM5_uc003anv.3_Nonsense_Mutation_p.R247*|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Nonsense_Mutation_p.R74* NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 290 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CGTGGGCATCCGAAGCTCCTA 0.557 NA 12 26 0 0 0.000978 0 0 RPL3 6122 broad.mit.edu 37 22 39713540 39713540 + Silent SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:39713540T>A uc003axi.2 - 3 359 c.291A>T c.(289-291)CGA>CGT p.R97R RPL3_uc003axh.2_Silent_p.R97R|RPL3_uc003axj.2_5'UTR|RPL3_uc011aoj.1_Silent_p.R97R|RPL3_uc010gxx.2_Silent_p.R45R|RPL3_uc003axg.2_Silent_p.R45R|RPL3_uc003axk.1_5'UTR NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) TCCGGAGGCCTCGAGGGGTTT 0.532 NA 35 79 0 0 0.002836 0 0 TCF20 6942 broad.mit.edu 37 22 42607645 42607645 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:42607645G>C uc003bcj.1 - 1 3801 c.3667C>G c.(3667-3669)CTA>GTA p.L1223V TCF20_uc003bck.1_Missense_Mutation_p.L1223V|TCF20_uc003bnt.2_Missense_Mutation_p.L1223V NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCCTCAGCTAGTCCATGTCCA 0.512 NA 19 23 0 0 0.006122 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655173 46655173 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:46655173A>T uc003bhh.2 - 1 4047 c.4047T>A c.(4045-4047)GAT>GAA p.D1349E NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1349 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCAGACGCTCATCTGGATGGG 0.388 NA 5 60 0 0 0.000602 0 0 SHANK3 85358 broad.mit.edu 37 22 51160861 51160861 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr22:51160861G>T uc003bne.1 + 22 4648 c.4648G>T c.(4648-4650)GCT>TCT p.A1550S SHANK3_uc003bnf.1_Missense_Mutation_p.A997S|SHANK3_uc010hbg.1_Missense_Mutation_p.A732S NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1550 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CATCGCAGCAGCTCGGTGAGC 0.637 NA 14 12 1.99824e-07 2.86873e-07 0.00499 1 0 SLC6A11 6538 broad.mit.edu 37 3 10916777 10916777 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:10916777C>A uc003bvz.2 + 6 922 c.888C>A c.(886-888)CCC>CCA p.P296P NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 296 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) TCTCCGACCCCCAGGTAAGAG 0.592 NA 29 9 7.26314e-15 1.23063e-14 0.007291 1 0 FBLN2 2199 broad.mit.edu 37 3 13612322 13612322 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:13612322C>T uc011avb.1 + 2 592 c.467C>T c.(466-468)CCC>CTC p.P156L FBLN2_uc011auz.1_Missense_Mutation_p.P182L|FBLN2_uc011ava.1_Missense_Mutation_p.P156L|FBLN2_uc011avc.1_Missense_Mutation_p.P156L NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 156 Subdomain NA (Cys-rich).|N. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CACCTGCCGCCCTGCCGGGCC 0.687 NA 7 2 0 0 0.004482 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15124018 15124018 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:15124018G>A uc003bzm.1 - 9 1310 c.696C>T c.(694-696)AGC>AGT p.S232S ZFYVE20_uc010hek.1_Silent_p.S232S|ZFYVE20_uc011avn.1_Intron NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 232 FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TGCTCATGCTGCTGATGCTGC 0.607 NA 32 13 0 0 0.002836 0 0 SUSD5 26032 broad.mit.edu 37 3 33194435 33194435 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:33194435C>A uc003cfo.1 - 5 2107 c.1689G>T c.(1687-1689)GTG>GTT p.V563V NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 563 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 ATCCGTCCCCCACACACGACT 0.607 NA 8 14 1.12685e-05 1.52204e-05 0.004482 1 0 ARPP21 10777 broad.mit.edu 37 3 35778760 35778760 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:35778760C>A uc003cgb.2 + 16 1814 c.1550C>A c.(1549-1551)TCC>TAC p.S517Y ARPP21_uc003cga.2_Missense_Mutation_p.S463Y|ARPP21_uc011axy.1_Missense_Mutation_p.S483Y|ARPP21_uc003cgf.2_Missense_Mutation_p.S318Y|ARPP21_uc003cgg.2_Missense_Mutation_p.S5Y NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 517 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GTGGGGCAGTCCCAACAGCAG 0.637 NA 19 17 8.00594e-06 1.08749e-05 0.007413 1 0 CCR3 1232 broad.mit.edu 37 3 46307665 46307665 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:46307665C>G uc003cpg.1 + 4 1559 c.1016C>G c.(1015-1017)ACC>AGC p.T339S CCR3_uc003cpi.1_Missense_Mutation_p.T339S|CCR3_uc003cpj.1_Missense_Mutation_p.T339S|CCR3_uc003cpk.1_Missense_Mutation_p.T360S|CCR3_uc010hjb.1_Missense_Mutation_p.T357S|CCR3_uc003cpl.1_Missense_Mutation_p.T372S NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 339 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CTGGAAAGAACCAGCTCTGTC 0.507 NA 11 14 0 0 0.008291 0 0 QARS 5859 broad.mit.edu 37 3 49135913 49135913 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49135913C>A uc003cvx.2 - 21 1962 c.1957G>T c.(1957-1959)GGC>TGC p.G653C QARS_uc011bcc.1_Missense_Mutation_p.G106C|QARS_uc011bcd.1_Missense_Mutation_p.G508C|QARS_uc003cvy.2_Missense_Mutation_p.G508C|QARS_uc011bce.1_Missense_Mutation_p.G642C NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 653 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CCACTGGGGCCCTGGAAGTGG 0.572 NA 30 11 2.08457e-15 3.60198e-15 0.002096 1 0 QARS 5859 broad.mit.edu 37 3 49137018 49137018 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49137018T>A uc003cvx.2 - 16 1456 c.1451A>T c.(1450-1452)TAT>TTT p.Y484F QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.Y339F|QARS_uc003cvy.2_Missense_Mutation_p.Y339F|QARS_uc011bce.1_Missense_Mutation_p.Y473F NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 484 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GAGGCGGCCATACTCCCACTG 0.552 NA 35 5 0 0 0.002836 0 0 USP19 10869 broad.mit.edu 37 3 49149022 49149022 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:49149022C>G uc003cwd.1 - 20 2980 c.2819G>C c.(2818-2820)AGC>ACC p.S940T USP19_uc003cwa.2_Missense_Mutation_p.S748T|USP19_uc003cvz.3_Missense_Mutation_p.S1043T|USP19_uc011bcg.1_Missense_Mutation_p.S1031T|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.S698T|USP19_uc011bch.1_Missense_Mutation_p.S1041T NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 940 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCACTGGTGCTGGGCACAGG 0.642 NA 26 4 0 0 0.003954 0 0 DNAH1 25981 broad.mit.edu 37 3 52428648 52428648 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:52428648G>T uc011bef.1 + 67 11055 c.10794G>T c.(10792-10794)CGG>CGT p.R3598R DNAH1_uc003ddv.2_Silent_p.R456R NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3663 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGAATTCCGGGTCATCTTCG 0.577 NA 26 3 4.87955e-14 8.0542e-14 0.005443 1 0 ITIH1 3697 broad.mit.edu 37 3 52812520 52812520 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:52812520C>A uc003dfs.2 + 3 327 c.303C>A c.(301-303)GCC>GCA p.A101A ITIH1_uc010hmn.1_RNA NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 101 VIT. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GTGACTTTGCCGTGTGCGTGC 0.547 NA 34 8 8.73648e-17 1.54867e-16 0.004289 1 0 FRMD4B 23150 broad.mit.edu 37 3 69230592 69230592 + Missense_Mutation SNP T T G rs148389023 by1000genomes TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:69230592T>G uc003dnv.2 - 21 2599 c.2309A>C c.(2308-2310)AAT>ACT p.N770T FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.N422T|FRMD4B_uc011bga.1_Missense_Mutation_p.N614T NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 770 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) AGTAGAAACATTCTGTTTCTT 0.493 NA 3 50 0 0 0.004672 0 0 CADM2 253559 broad.mit.edu 37 3 85961612 85961612 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:85961612G>T uc003dqj.2 + 5 1218 c.592G>T c.(592-594)GGA>TGA p.G198* CADM2_uc003dqk.2_Nonsense_Mutation_p.G207*|CADM2_uc003dql.2_Nonsense_Mutation_p.G200* NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 198 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAGTGATGATGGAGTGGCGGT 0.453 NA 20 7 1.87028e-06 2.59566e-06 0.001882 1 0 GABRR3 200959 broad.mit.edu 37 3 97744491 97744491 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:97744491C>G uc011bgr.1 - 2 158 c.158G>C c.(157-159)AGT>ACT p.S53T NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 53 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 CGCTTTGGTACTGTCATCTTT 0.388 NA 16 8 0 0 0.004007 0 0 GPR128 84873 broad.mit.edu 37 3 100374024 100374024 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:100374024G>T uc003duc.2 + 12 1993 c.1725G>T c.(1723-1725)TGG>TGT p.W575C GPR128_uc011bhc.1_Missense_Mutation_p.W276C|GPR128_uc003dud.2_Missense_Mutation_p.W98C NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 575 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TAATTGGATGGGGTAAGTGTT 0.318 Pancreas(87;185 1975 7223 18722) NA 54 10 2.73381e-35 5.72428e-35 0.00361 1 0 CBLB 868 broad.mit.edu 37 3 105412398 105412398 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:105412398T>C uc003dwc.2 - 13 2316 c.1994A>G c.(1993-1995)TAT>TGT p.Y665C CBLB_uc011bhi.1_Missense_Mutation_p.Y687C|CBLB_uc003dwd.1_Missense_Mutation_p.Y665C|CBLB_uc003dwe.1_Missense_Mutation_p.Y665C NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 665 Pro-rich. Y->F: Slightly inhibits interaction with CRKL. Abolishes interaction with CRKL; when associated with F-709. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 AGGAACATCATATTCTTCACT 0.418 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 33 6 0 0 0.005524 0 0 SIDT1 54847 broad.mit.edu 37 3 113325904 113325904 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:113325904G>C uc003eak.2 + 15 2072 c.1421G>C c.(1420-1422)GGC>GCC p.G474A SIDT1_uc011bif.1_Intron|SIDT1_uc003eaj.1_Missense_Mutation_p.G474A|SIDT1_uc011big.1_Missense_Mutation_p.G227A|SIDT1_uc011bih.1_Intron|SIDT1_uc011bii.1_Intron NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 474 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 AATGTCACTGGCAACCAGGAC 0.512 NA 22 23 0 0 0.00632 0 0 B4GALT4 8702 broad.mit.edu 37 3 118937606 118937606 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:118937606C>G uc003ecg.2 - 6 1329 c.688G>C c.(688-690)GGA>CGA p.G230R B4GALT4_uc003ece.1_Missense_Mutation_p.G230R|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.G230R|B4GALT4_uc003eci.2_Missense_Mutation_p.G230R|B4GALT4_uc011biy.1_RNA NM_212543 NP_997708 O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 230 Lumenal (Potential). membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity 0 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) CCAAAATATCCACTGTAACGT 0.473 NA 6 98 0 0 0.00308 0 0 STXBP5L 9515 broad.mit.edu 37 3 120871407 120871407 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:120871407G>T uc003eec.3 + 8 893 c.753G>T c.(751-753)GAG>GAT p.E251D STXBP5L_uc011bji.1_Missense_Mutation_p.E251D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 251 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) ATTATGATGAGGTAAGTGATT 0.353 NA 40 7 1.22674e-20 2.32499e-20 0.00874 1 0 COL6A6 131873 broad.mit.edu 37 3 130282295 130282295 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:130282295G>A uc010htl.2 + 2 479 c.448G>A c.(448-450)GCA>ACA p.A150T NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 150 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGTGGAAGAGGCATCAAAGGC 0.493 NA 28 10 0 0 0.00632 0 0 CPNE4 131034 broad.mit.edu 37 3 131442447 131442447 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:131442447C>G uc003eok.2 - 3 638 c.203G>C c.(202-204)CGC>CCC p.R68P CPNE4_uc011blq.1_Missense_Mutation_p.R86P|CPNE4_uc003eol.2_Missense_Mutation_p.R86P|CPNE4_uc003eom.2_Missense_Mutation_p.R68P NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 68 C2 1. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TATGCAGGTGCGAATCACCTC 0.428 NA 30 92 0 0 0.002096 0 0 ACAD11 84129 broad.mit.edu 37 3 132360964 132360964 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:132360964C>T uc003eov.3 - 4 769 c.389G>A c.(388-390)CGT>CAT p.R130H ACAD11_uc003eoy.2_Missense_Mutation_p.R130H NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 130 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 TGTTAAATCACGGAAGATTCG 0.363 NA 25 79 0 0 0.00632 0 0 MRPS22 56945 broad.mit.edu 37 3 139065733 139065733 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:139065733C>G uc003etb.2 + 2 194 c.186C>G c.(184-186)AGC>AGG p.S62R MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.S61R|MRPS22_uc003ete.2_Missense_Mutation_p.S21R NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 62 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 AATCTGGTAGCCCAGAGACCA 0.363 NA 103 8 0 0 0.00361 0 0 ATR 545 broad.mit.edu 37 3 142272147 142272147 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:142272147T>C uc003eux.3 - 13 2849 c.2727A>G c.(2725-2727)ACA>ACG p.T909T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 909 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTCTAATTTCTGTGTATGCTG 0.413 NA Other_conserved_DNA_damage_response_genes 115 14 0 0 0.00361 0 0 MED12L 116931 broad.mit.edu 37 3 150840728 150840728 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:150840728A>T uc003eyp.2 + 3 401 c.363A>T c.(361-363)GCA>GCT p.A121A MED12L_uc011bnz.1_Silent_p.A121A|MED12L_uc003eym.1_Silent_p.A121A|MED12L_uc003eyn.2_Silent_p.A121A|MED12L_uc003eyo.2_Silent_p.A121A NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 121 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGACTTAGCAGGAAATAAGC 0.343 NA 27 9 0 0 0.008361 0 0 PHC3 80012 broad.mit.edu 37 3 169846735 169846735 + Missense_Mutation SNP T T C rs113283659 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:169846735T>C uc010hws.1 - 8 1553 c.1489A>G c.(1489-1491)ATC>GTC p.I497V PHC3_uc003fgl.2_Missense_Mutation_p.I509V|PHC3_uc011bpq.1_Missense_Mutation_p.I456V|PHC3_uc011bpr.1_Missense_Mutation_p.I423V NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 497 Pro-rich.|Gln-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCAATTGGGATTGGAGAGGAC 0.512 NA 3 57 0 0 0.004672 0 0 PRKCI 5584 broad.mit.edu 37 3 169985720 169985720 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:169985720G>T uc003fgs.2 + 5 620 c.382G>T c.(382-384)GGT>TGT p.G128C NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 128 Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTACCGTAGAGGTGCACGCCG 0.363 NA 27 6 2.61193e-14 4.36384e-14 0.001786 1 0 SPATA16 83893 broad.mit.edu 37 3 172607409 172607409 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:172607409C>A uc003fin.3 - 11 1819 c.1661G>T c.(1660-1662)CGA>CTA p.R554L NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 554 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTTTTGCCTTCGAGCAGTTCT 0.378 NA 93 23 5.95195e-44 1.27694e-43 0.00361 1 0 CHRD 8646 broad.mit.edu 37 3 184106393 184106393 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:184106393C>A uc003fov.2 + 21 2819 c.2573C>A c.(2572-2574)CCC>CAC p.P858H CHRD_uc003fow.2_Missense_Mutation_p.P488H|CHRD_uc003fox.2_Missense_Mutation_p.P858H|CHRD_uc003foy.2_Missense_Mutation_p.P488H|CHRD_uc010hyc.2_Missense_Mutation_p.P448H|CHRD_uc011brr.1_Missense_Mutation_p.P400H NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 858 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGGCCCACCCCCAGCTGGGG 0.607 NA 62 18 3.05417e-18 5.5896e-18 0.00361 1 0 C3orf65 646600 broad.mit.edu 37 3 185434484 185434484 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:185434484C>T uc003fpr.2 + 2 493 c.317C>T c.(316-318)GCC>GTC p.A106V IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_Intron NR_027317 RecName: Full=Putative uncharacterized protein C3orf65; 0 all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTACTCAGGGCCATGGTGGTG 0.547 NA 20 28 0 0 0.001523 0 0 RFC4 5984 broad.mit.edu 37 3 186522453 186522453 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:186522453G>C uc003fqz.2 - 2 273 c.50C>G c.(49-51)ACC>AGC p.T17S RFC4_uc011bsc.1_Missense_Mutation_p.T17S|RFC4_uc011bsd.1_Missense_Mutation_p.T17S NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 17 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TCGATCCTTGGTCAGCGGGGG 0.458 NA 79 25 0 0 0.00361 0 0 DLG1 1739 broad.mit.edu 37 3 196842896 196842896 + Nonsense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:196842896C>A uc003fxo.3 - 14 1634 c.1444G>T c.(1444-1446)GGA>TGA p.G482* DLG1_uc011bub.1_Nonsense_Mutation_p.G366*|DLG1_uc011buc.1_Nonsense_Mutation_p.G366*|DLG1_uc011bud.1_Nonsense_Mutation_p.G165*|DLG1_uc003fxn.3_Nonsense_Mutation_p.G482*|DLG1_uc011bue.1_Nonsense_Mutation_p.G449*|DLG1_uc010ial.2_Nonsense_Mutation_p.G482*|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.G449*|DLG1_uc010ian.2_Nonsense_Mutation_p.G349* NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 482 PDZ 3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTTCTCCTCCTACAATGTTG 0.373 NA 108 15 1.81142e-54 3.93021e-54 0.00361 1 0 ZNF595 152687 broad.mit.edu 37 4 59439 59439 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:59439G>T uc003fzv.1 + 2 276 c.120G>T c.(118-120)CTG>CTT p.L40L ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.L40L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ACAGGAACCTGGTCTCCCTGG 0.443 NA 31 423 9.04072e-19 1.66412e-18 0.003271 1 0 BOD1L 259282 broad.mit.edu 37 4 13601180 13601180 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:13601180T>C uc003gmz.1 - 10 7461 c.7344A>G c.(7342-7344)GGA>GGG p.G2448G BOD1L_uc010idr.1_Silent_p.G1785G NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2448 DNA binding ovary(5)|breast(1) 6 TCTCTTTCTGTCCTCTTCCTG 0.483 NA OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 33 0 0 0.007413 0 0 ARAP2 116984 broad.mit.edu 37 4 36161118 36161118 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:36161118C>A uc003gsq.1 - 14 2790 c.2452G>T c.(2452-2454)GCT>TCT p.A818S NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 818 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 ACTACAGCAGCACATAGAGCC 0.413 NA 29 11 5.60225e-13 9.10603e-13 0.001786 1 0 PDGFRA 5156 broad.mit.edu 37 4 55140718 55140718 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:55140718G>T uc003han.3 + 11 1910 c.1579G>T c.(1579-1581)GTG>TTG p.V527L PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V421L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 527 Helical; (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) TGAACTCACGGTGGCTGCTGC 0.478 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 53 10 1.0442e-30 2.1489e-30 0.00361 1 0 LPHN3 23284 broad.mit.edu 37 4 62598529 62598529 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:62598529C>A uc010ihh.2 + 5 625 c.452C>A c.(451-453)TCC>TAC p.S151Y LPHN3_uc003hcq.3_Missense_Mutation_p.S151Y|LPHN3_uc010ihg.1_Missense_Mutation_p.S219Y|LPHN3_uc003hcs.1_5'UTR NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 151 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTGTTTGAGTCCGACCACCAA 0.408 NA 5 3 0.00116845 0.00148613 0.001168 1 0 TECRL 253017 broad.mit.edu 37 4 65165692 65165692 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:65165692C>A uc003hcv.2 - 8 883 c.774G>T c.(772-774)CTG>CTT p.L258L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 258 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TGATACATACCAGAAAATTGA 0.294 NA 37 51 8.16277e-20 1.52002e-19 0.006999 1 0 EPHA5 2044 broad.mit.edu 37 4 66509116 66509117 + Missense_Mutation DNP CC CC AT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:66509116_66509117CC>AT uc003hcy.2 - 2 403_404 c.210_211GG>AT c.(208-213)ATGGGG>ATATGG p.70_71MG>IW EPHA5_uc003hcx.2_Missense_Mutation_p.1_2MG>IW|EPHA5_uc003hcz.2_Missense_Mutation_p.70_71MG>IW|EPHA5_uc011cah.1_Missense_Mutation_p.70_71MG>IW|EPHA5_uc011cai.1_Missense_Mutation_p.70_71MG>IW|EPHA5_uc003hda.2_Missense_Mutation_p.70_71MG>IW NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 70_71 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCCAGGTCCCCCATGACAGTGC 0.322 NA TSP Lung(17;0.13) 34 13 0 0 0.004672 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700208 77700208 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:77700208C>T uc011cbx.1 + 11 6822 c.5869C>T c.(5869-5871)CCC>TCC p.P1957S SHROOM3_uc003hkg.2_Missense_Mutation_p.P1735S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1957 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGAGAGCCTGCCCTCAGATTT 0.562 NA 53 18 0 0 0.00361 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86921657 86921657 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:86921657G>A uc003hpk.2 + 10 2478 c.2029G>A c.(2029-2031)GAA>AAA p.E677K ARHGAP24_uc003hpl.2_Missense_Mutation_p.E582K|ARHGAP24_uc010ikf.2_Missense_Mutation_p.E592K|ARHGAP24_uc003hpm.2_Missense_Mutation_p.E584K NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 677 Potential. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CTTGACTTTGGAAACAGAAAT 0.423 NA 30 12 0 0 0.002096 0 0 SNCA 6622 broad.mit.edu 37 4 90650401 90650401 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:90650401T>A uc003hsq.2 - 5 593 c.334A>T c.(334-336)ATT>TTT p.I112F SNCA_uc010ikt.2_Missense_Mutation_p.I98F|SNCA_uc003hso.2_Intron|SNCA_uc003hsp.2_Missense_Mutation_p.I112F|SNCA_uc003hsr.2_Missense_Mutation_p.I112F|uc011cdr.1_5'Flank NM_001146054 NP_001139526 P37840 SYUA_HUMAN alpha-synuclein isoform NACP140 112 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TCTTCCAGAATTCCTTCCTGT 0.269 NA 25 7 0 0 0.007291 0 0 MTTP 4547 broad.mit.edu 37 4 100521876 100521876 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:100521876C>T uc003hvc.3 + 10 1478 c.1222C>T c.(1222-1224)CTG>TTG p.L408L MTTP_uc011cej.1_Silent_p.L435L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 408 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGAAGAACTCCTGAGAGCCCT 0.358 NA 20 30 0 0 0.001523 0 0 TACR3 6870 broad.mit.edu 37 4 104512726 104512726 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:104512726G>T uc003hxe.1 - 4 1146 c.1003C>A c.(1003-1005)CAG>AAG p.Q335K NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 335 Helical; Name=7; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TAGACCTGCTGGATGTATTTC 0.393 NA 40 19 8.01111e-26 1.57431e-25 0.002522 1 0 EGF 1950 broad.mit.edu 37 4 110883141 110883141 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:110883141G>C uc003hzy.3 + 8 1764 c.1312G>C c.(1312-1314)GGT>CGT p.G438R EGF_uc011cfu.1_Missense_Mutation_p.G396R|EGF_uc011cfv.1_Missense_Mutation_p.G438R NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 438 EGF-like 4.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AACATGTAGCGGTGAGTTTAT 0.378 NA 48 17 0 0 0.00361 0 0 SLC10A7 84068 broad.mit.edu 37 4 147438231 147438231 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:147438231C>A uc010ioz.2 - 2 396 c.142G>T c.(142-144)GCA>TCA p.A48S SLC10A7_uc003ikr.2_Missense_Mutation_p.A48S|SLC10A7_uc010ipa.2_Missense_Mutation_p.A48S|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.A48S|SLC10A7_uc003iku.3_RNA NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 48 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) AATATTGTTGCAACAGCAATG 0.338 NA 73 40 3.30373e-36 6.94798e-36 0.00361 1 0 TLL1 7092 broad.mit.edu 37 4 166986864 166986864 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:166986864G>T uc003irh.1 + 16 2684 c.2037G>T c.(2035-2037)TGG>TGT p.W679C TLL1_uc011cjn.1_Missense_Mutation_p.W702C|TLL1_uc011cjo.1_Missense_Mutation_p.W503C NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 679 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGAGATCTGGAGTGGTCTTT 0.373 NA 45 18 4.01344e-20 7.51736e-20 0.00361 1 0 ENPP6 133121 broad.mit.edu 37 4 185012394 185012394 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:185012394G>A uc003iwc.2 - 8 1401 c.1259C>T c.(1258-1260)ACT>ATT p.T420I NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 420 Helical; (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) AGGCGGGGCAGTGCTGGCGCG 0.557 NA 5 22 0 0 0.001168 0 0 TRIML2 205860 broad.mit.edu 37 4 189012681 189012681 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:189012681G>T uc003izl.2 - 7 1046 c.1010C>A c.(1009-1011)ACC>AAC p.T337N TRIML2_uc003izj.1_Missense_Mutation_p.T165N|TRIML2_uc003izk.1_Missense_Mutation_p.T145N|TRIML2_uc011cle.1_Missense_Mutation_p.T412N NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 337 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GGACATCTCGGTCACATTGTA 0.493 NA 47 18 5.78141e-17 1.02864e-16 0.003214 1 0 TRIML1 339976 broad.mit.edu 37 4 189068142 189068142 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr4:189068142C>A uc003izm.1 + 6 1138 c.1023C>A c.(1021-1023)CAC>CAA p.H341Q TRIML1_uc003izn.1_Missense_Mutation_p.H65Q NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 341 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTGGGAGACACTACTGGGAGG 0.562 Melanoma(31;213 1036 16579 23968 32372) NA 22 13 5.26018e-13 8.5791e-13 0.001882 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 163501 163501 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:163501G>A uc003jak.2 + 11 2296 c.2246G>A c.(2245-2247)AGT>AAT p.S749N NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 749 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GACCATACTAGTGTCTTCAGC 0.567 NA 43 167 0 0 0.002852 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629486 9629486 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:9629486C>G uc003jem.1 - 1 978 c.659G>C c.(658-660)AGG>ACG p.R220T NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 220 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GGGTGCACCCCTGCCAGGAAC 0.493 NA 19 60 0 0 0.007413 0 0 CTNND2 1501 broad.mit.edu 37 5 11023036 11023036 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:11023036G>C uc003jfa.1 - 17 2989 c.2844C>G c.(2842-2844)AAC>AAG p.N948K CTNND2_uc010itt.2_Missense_Mutation_p.N857K|CTNND2_uc011cmy.1_Missense_Mutation_p.N611K|CTNND2_uc011cmz.1_Missense_Mutation_p.N515K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.N540K NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 948 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TTGCAGTGTTGTTGCTGTTGT 0.498 NA 13 89 0 0 0.00245 0 0 TRIO 7204 broad.mit.edu 37 5 14378120 14378120 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:14378120G>T uc003jff.2 + 20 3338 c.3332_splice c.e20-1 p.N1111_splice TRIO_uc003jfg.2_Splice_Site|TRIO_uc011cna.1_Splice_Site_p.N1062_splice|TRIO_uc003jfh.1_Splice_Site_p.N760_splice NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TTTTCTCTCAGATATCTTGAA 0.393 NA 10 26 3.86212e-05 5.12278e-05 0.008291 1 0 CDH18 1016 broad.mit.edu 37 5 19571701 19571701 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:19571701T>A uc003jgc.2 - 7 1617 c.1240A>T c.(1240-1242)AAC>TAC p.N414Y CDH18_uc003jgd.2_Missense_Mutation_p.N414Y|CDH18_uc011cnm.1_Missense_Mutation_p.N414Y NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 414 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACTAAGCTGTTAGTACTGTCA 0.373 NA 58 97 0 0 0.00361 0 0 CDH12 1010 broad.mit.edu 37 5 21802377 21802377 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:21802377G>T uc010iuc.2 - 7 1613 c.1155C>A c.(1153-1155)AGC>AGA p.S385R CDH12_uc011cno.1_Missense_Mutation_p.S345R|CDH12_uc003jgk.2_Missense_Mutation_p.S385R NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 385 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGAGCGGCTTGCTGAAAACCG 0.547 NA HNSCC(59;0.17) 12 45 1.61879e-10 2.51608e-10 0.001368 1 0 PRDM9 56979 broad.mit.edu 37 5 23526943 23526943 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:23526943C>T uc003jgo.2 + 11 1928 c.1746C>T c.(1744-1746)TGC>TGT p.C582C NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 582 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CCTATGTCTGCAGGGAGTGTG 0.597 NA HNSCC(3;0.000094) 32 133 0 0 0.00623 0 0 CDH9 1007 broad.mit.edu 37 5 26886084 26886084 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:26886084C>A uc003jgs.1 - 10 1790 c.1621G>T c.(1621-1623)GAT>TAT p.D541Y CDH9_uc011cnv.1_Missense_Mutation_p.D134Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 541 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CCTTTATTATCTACAATGGTG 0.303 Melanoma(8;187 585 15745 40864 52829) NA 50 96 3.31993e-32 6.86166e-32 0.00361 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577051 33577051 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:33577051G>C uc003jia.1 - 19 3243 c.3080C>G c.(3079-3081)TCC>TGC p.S1027C ADAMTS12_uc010iuq.1_Missense_Mutation_p.S942C NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1027 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTGGGCCTGGATGTAGGTGG 0.527 NA HNSCC(64;0.19) 31 85 0 0 0.008361 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649767 33649767 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:33649767C>A uc003jia.1 - 8 1389 c.1226G>T c.(1225-1227)TGT>TTT p.C409F ADAMTS12_uc010iuq.1_Missense_Mutation_p.C409F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 409 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CACAGGCTCACAGTCATTTTC 0.542 NA HNSCC(64;0.19) 19 63 2.27731e-05 3.04594e-05 0.001882 1 0 TTC23L 153657 broad.mit.edu 37 5 34845695 34845695 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:34845695A>T uc003jiu.2 + 3 275 c.172A>T c.(172-174)AAG>TAG p.K58* NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 58 binding central_nervous_system(1) 1 AGAGAAGGAGAAGGCCATAGA 0.433 NA 15 62 0 0 0.00499 0 0 IL7R 3575 broad.mit.edu 37 5 35867563 35867563 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:35867563T>C uc003jjs.2 + 3 466 c.377T>C c.(376-378)ATA>ACA p.I126T IL7R_uc011coo.1_Missense_Mutation_p.I126T|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 126 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTAACCACTATAGGTAAGAAG 0.353 NA 39 72 0 0 0.006999 0 0 NIPBL 25836 broad.mit.edu 37 5 37007478 37007478 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:37007478A>T uc003jkl.3 + 18 4640 c.4141A>T c.(4141-4143)AGA>TGA p.R1381* NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1381* NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1381 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) CCATAAGCAGAGAGTAATAGT 0.318 NA 17 47 0 0 0.00499 0 0 GDNF 2668 broad.mit.edu 37 5 37815911 37815911 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:37815911A>G uc011cpi.1 - 3 678 c.478T>C c.(478-480)TTG>CTG p.L160L GDNF_uc011cpc.1_Silent_p.L82L|GDNF_uc011cpd.1_Silent_p.L108L|GDNF_uc011cpe.1_Silent_p.L134L|GDNF_uc011cpf.1_Silent_p.L134L|GDNF_uc011cpg.1_Silent_p.L177L|GDNF_uc011cph.1_Silent_p.L151L NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 160 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) AAGTTTTTCAATATTTTGTCG 0.458 NA 52 135 0 0 0.00361 0 0 CARD6 84674 broad.mit.edu 37 5 40853641 40853641 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:40853641C>G uc003jmg.2 + 3 2282 c.2207C>G c.(2206-2208)ACC>AGC p.T736S NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 736 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CTCTTTCCAACCAGAATTGGA 0.502 NA 182 198 0 0 0.00361 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41018863 41018863 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:41018863G>T uc003jmj.3 - 26 3093 c.2603C>A c.(2602-2604)GCC>GAC p.A868D HEATR7B2_uc003jmi.3_Missense_Mutation_p.A423D NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 868 binding ovary(6)|central_nervous_system(2) 8 TTTTCCTAGGGCGTCCATGGA 0.453 NA 19 89 1.33834e-09 2.0308e-09 0.007413 1 0 HCN1 348980 broad.mit.edu 37 5 45303797 45303797 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:45303797C>A uc003jok.2 - 6 1547 c.1522G>T c.(1522-1524)GTG>TTG p.V508L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 508 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTTTTACCCACGGCTCCTTCT 0.393 NA 59 130 6.09941e-20 1.14022e-19 0.00361 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54649077 54649077 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:54649077G>C uc003jpy.3 + 14 1779 c.1513G>C c.(1513-1515)GAT>CAT p.D505H SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404H NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CCGCAAATTTGATGGGAAGGA 0.338 Melanoma(2;92 134 23744 29976 33782) NA 42 9 0 0 0.002852 0 0 FCHO2 115548 broad.mit.edu 37 5 72383470 72383470 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:72383470C>T uc003kcl.2 + 25 2416 c.2300C>T c.(2299-2301)ACG>ATG p.T767M FCHO2_uc011csl.1_Missense_Mutation_p.T734M|FCHO2_uc010izb.2_Missense_Mutation_p.T195M|FCHO2_uc011csn.1_Missense_Mutation_p.T195M NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 767 ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AGTAAACCCACGACACTTGCA 0.433 NA 7 37 0 0 0.001984 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101774337 101774337 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:101774337C>A uc003knn.2 - 7 1432 c.1260G>T c.(1258-1260)GTG>GTT p.V420V SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Silent_p.V420V|SLCO6A1_uc003knq.2_Silent_p.V358V NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 420 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GTGTAGTTGCCACAGTGGGTG 0.294 NA 49 12 5.37117e-13 8.74526e-13 0.00361 1 0 CAMK4 814 broad.mit.edu 37 5 110730453 110730453 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:110730453C>G uc011cvj.1 + 6 531 c.432C>G c.(430-432)GCC>GCG p.A144A CAMK4_uc003kpf.2_Silent_p.A144A|CAMK4_uc010jbv.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 144 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) CTGCAGATGCCGTTAAACAAA 0.388 NA 24 33 0 0 0.002299 0 0 TRIM36 55521 broad.mit.edu 37 5 114480312 114480312 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:114480312C>A uc003kqs.2 - 4 1263 c.754G>T c.(754-756)GCC>TCC p.A252S TRIM36_uc011cwc.1_Missense_Mutation_p.A240S|TRIM36_uc003kqt.2_Missense_Mutation_p.A97S NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 252 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GTTTTGTAGGCACTGCTCATA 0.368 NA 25 10 2.44723e-14 4.10296e-14 0.004656 1 0 FBN2 2201 broad.mit.edu 37 5 127614379 127614379 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:127614379G>T uc003kuu.2 - 57 7732 c.7293C>A c.(7291-7293)GCC>GCA p.A2431A NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2431 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTTTGTACTGGGCAGTTCCAG 0.458 NA 45 20 1.63429e-32 3.39975e-32 0.00361 1 0 CDC25C 995 broad.mit.edu 37 5 137665288 137665288 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:137665288C>A uc003lcp.1 - 3 514 c.243G>T c.(241-243)GAG>GAT p.E81D CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.E81D|CDC25C_uc011cyp.1_Missense_Mutation_p.E98D|CDC25C_uc003lcs.1_Missense_Mutation_p.E159D|CDC25C_uc010jet.1_Missense_Mutation_p.E81D|CDC25C_uc003lct.1_Missense_Mutation_p.E81D|CDC25C_uc003lcu.1_Intron NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 81 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGGCAGTTATCTCCCCACTGC 0.418 NA 70 22 2.18329e-32 4.52219e-32 0.00361 1 0 PCDHA1 56147 broad.mit.edu 37 5 140167441 140167441 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140167441C>A uc003lhb.2 + 1 1566 c.1566C>A c.(1564-1566)CCC>CCA p.P522P PCDHA1_uc003lha.2_Silent_p.P522P|PCDHA1_uc003lgz.2_Silent_p.P522P NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 522 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGCAGCCCCTGGACCACG 0.677 NA 88 22 3.07327e-39 6.5205e-39 0.00361 1 0 PCDHA6 56142 broad.mit.edu 37 5 140208979 140208979 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140208979C>T uc003lho.2 + 1 1330 c.1303C>T c.(1303-1305)CTG>TTG p.L435L 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_Silent_p.L435L|PCDHA6_uc011dab.1_Silent_p.L435L NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 435 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCCTTCGCTGTGGGCCAC 0.612 NA 28 59 0 0 0.002836 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214890 140214890 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140214890A>G uc003lhq.2 + 1 922 c.922A>G c.(922-924)ATG>GTG p.M308V 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_Missense_Mutation_p.M308V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 308 Cadherin 3.|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) GATAGGACATATGGATTTTGA 0.448 NSCLC(160;258 2013 5070 22440 28951) NA 5 27 0 0 0.001855 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250330 140250330 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140250330G>T uc003lia.2 + 1 2500 c.1642G>T c.(1642-1644)GTG>TTG p.V548L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V548L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 548 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCAGCAACGTGACGCTGCA 0.657 NA 70 31 1.356e-25 2.65389e-25 0.00361 1 0 PCDHB4 56131 broad.mit.edu 37 5 140501789 140501789 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140501789A>T uc003lip.1 + 1 209 c.209A>T c.(208-210)GAC>GTC p.D70V NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 70 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGACGATGACAAGCAGCGT 0.567 NA 32 9 0 0 0.001786 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953299 140953299 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140953299G>A uc003llb.3 - 16 2259 c.2118C>T c.(2116-2118)CCC>CCT p.P706P DIAPH1_uc003llc.3_Silent_p.P697P|DIAPH1_uc010jgc.1_Silent_p.P145P NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 706 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGGCAAGGGAGGAGGTG 0.637 NA 3 2 0 0 0.000602 0 0 LARS 51520 broad.mit.edu 37 5 145531495 145531495 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:145531495T>C uc003lnx.1 - 14 1593 c.1355A>G c.(1354-1356)CAG>CGG p.Q452R LARS_uc011dbq.1_Missense_Mutation_p.Q406R|LARS_uc011dbr.1_Missense_Mutation_p.Q398R|LARS_uc011dbs.1_Missense_Mutation_p.Q425R NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 452 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) ATTCTGGCTCTGAATTTTCAA 0.363 NA 156 31 0 0 0.00361 0 0 SPINK6 404203 broad.mit.edu 37 5 147593482 147593482 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:147593482G>A uc003lpa.2 + 3 347 c.91G>A c.(91-93)GGT>AGT p.G31S NM_205841 NP_995313 Q6UWN8 ISK6_HUMAN serine protease inhibitor, Kazal type 6 31 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTGACTGTGGTGAGTTCCA 0.463 NA 42 6 0 0 0.002522 0 0 GM2A 2760 broad.mit.edu 37 5 150632802 150632802 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:150632802C>T uc003ltr.3 + 1 190 c.25C>T c.(25-27)CTC>TTC p.L9F GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Missense_Mutation_p.L9F NM_000405 NP_000396 P17900 SAP3_HUMAN GM2 ganglioside activator precursor 9 lysosome|nucleolus sphingolipid activator protein activity 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGCTCCCCTCCTGATCGC 0.592 NA 21 50 0 0 0.002299 0 0 EBF1 1879 broad.mit.edu 37 5 158250262 158250262 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:158250262C>A uc010jip.2 - 8 1002 c.700G>T c.(700-702)GTC>TTC p.V234F EBF1_uc011ddw.1_Missense_Mutation_p.V101F|EBF1_uc011ddx.1_Missense_Mutation_p.V234F|EBF1_uc003lxl.3_Missense_Mutation_p.V211F NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 234 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTATTATGGACAAACATGTTA 0.468 NA T HMGA2 lipoma 25 10 3.08376e-08 4.4876e-08 0.00333 1 0 GABRG2 2566 broad.mit.edu 37 5 161580279 161580279 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:161580279C>A uc003lyz.3 + 9 1667 c.1309C>A c.(1309-1311)CGC>AGC p.R437S GABRG2_uc010jjc.2_Missense_Mutation_p.R485S|GABRG2_uc003lyy.3_Missense_Mutation_p.R445S|GABRG2_uc011dej.1_Missense_Mutation_p.R342S NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 437 Cytoplasmic (Probable).|Interaction with GABARAP (Potential). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GATACATATCCGCATTGCCAA 0.498 NA 109 25 3.28517e-43 7.03232e-43 0.00361 1 0 HMMR 3161 broad.mit.edu 37 5 162917455 162917455 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:162917455A>G uc003lzf.2 + 17 2201 c.2019A>G c.(2017-2019)CAA>CAG p.Q673Q HMMR_uc003lzh.2_Silent_p.Q674Q|HMMR_uc003lzg.2_Silent_p.Q658Q|HMMR_uc011dem.1_Silent_p.Q587Q|uc003lzi.2_Intron NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 673 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CAAAACTTCAAGAGGAATTGA 0.313 NA 4 105 0 0 0.000602 0 0 ODZ2 57451 broad.mit.edu 37 5 167674028 167674028 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:167674028A>T uc010jjd.2 + 27 6057 c.6057A>T c.(6055-6057)TTA>TTT p.L2019F ODZ2_uc003lzr.3_Missense_Mutation_p.L1789F|ODZ2_uc003lzt.3_Missense_Mutation_p.L1392F|ODZ2_uc010jje.2_Missense_Mutation_p.L1283F NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TCTCCAAGTTATCAGAGATTG 0.527 NA 16 57 0 0 0.008871 0 0 SLIT3 6586 broad.mit.edu 37 5 168233555 168233555 + Silent SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:168233555G>C uc003mab.2 - 9 1251 c.831C>G c.(829-831)TCC>TCG p.S277S SLIT3_uc010jjg.2_Silent_p.S277S|SLIT3_uc010jji.2_Silent_p.S277S|SLIT3_uc003mac.1_Silent_p.S74S NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 277 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCAGGAGATGGAGTTGGCAT 0.587 Ovarian(29;311 847 10864 17279 24903) NA 49 16 0 0 0.00361 0 0 RNF44 22838 broad.mit.edu 37 5 175956382 175956382 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:175956382C>T uc003mek.1 - 10 1668 c.1143G>A c.(1141-1143)GTG>GTA p.V381V RNF44_uc011dfo.1_Silent_p.V289V|RNF44_uc003mel.1_Silent_p.V70V NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 381 RING-type; atypical. zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGCAGACCACACACCTGT 0.627 NA 25 10 0 0 0.00333 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163750 12163750 + Missense_Mutation SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:12163750C>T uc003nac.2 + 9 7392 c.7213C>T c.(7213-7215)CAT>TAT p.H2405Y HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2405 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGGGGGGATCCATGTGGTACC 0.527 NA 133 15 0 0 0.00361 0 0 SLC44A4 80736 broad.mit.edu 37 6 31831479 31831479 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:31831479G>A uc010jti.2 - 21 2124 c.2058C>T c.(2056-2058)TAC>TAT p.Y686Y NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 686 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) TCTTGGACATGTAGTAGGGCC 0.587 NA 15 2 0 0 0.00245 0 0 SNRPC 6631 broad.mit.edu 37 6 34730397 34730397 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:34730397G>T uc003ojt.1 + 3 92 c.77G>T c.(76-78)AGT>ATT p.S26I NM_003093 NP_003084 P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 26 Matrin-type. CSG -> RSR (in Ref. 2; AAA36618). spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding pancreas(1) 1 ACACACTGCAGTGGAAGGAAA 0.343 NSCLC(131;576 1831 5287 11175 13324) NA 7 50 0.000157383 0.000205348 0.00308 1 0 DNAH8 1769 broad.mit.edu 37 6 38810560 38810560 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:38810560C>A uc003ooe.1 + 33 4675 c.4075C>A c.(4075-4077)CAG>AAG p.Q1359K NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGCCATGAAACAGAGACACTG 0.388 NA 81 23 1.52589e-26 3.05497e-26 0.00361 1 0 BAI3 577 broad.mit.edu 37 6 69349118 69349118 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:69349118G>C uc003pev.3 + 3 999 c.551G>C c.(550-552)GGG>GCG p.G184A BAI3_uc010kak.2_Missense_Mutation_p.G184A NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 184 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TCAGAAAATGGGAGAACAGAA 0.423 NA 19 34 0 0 0.006122 0 0 CD109 135228 broad.mit.edu 37 6 74497058 74497058 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:74497058G>T uc003php.2 + 21 2864 c.2439G>T c.(2437-2439)GAG>GAT p.E813D CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.E813D|CD109_uc010kba.2_Missense_Mutation_p.E736D NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 813 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TTCCCAGTGAGGATGGGGCAA 0.443 NA 30 37 4.31634e-10 6.65493e-10 0.002445 1 0 ZNF292 23036 broad.mit.edu 37 6 87970160 87970160 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:87970160G>T uc003plm.3 + 8 6854 c.6813G>T c.(6811-6813)TCG>TCT p.S2271S NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2271 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAACCCGGTCGAATCTCCTCC 0.418 NA 14 27 6.72482e-11 1.05034e-10 0.003163 1 0 ORC3L 23595 broad.mit.edu 37 6 88344667 88344667 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88344667A>T uc003pmh.2 + 12 1334 c.1290A>T c.(1288-1290)CCA>CCT p.P430P ORC3L_uc011dzl.1_Silent_p.P430P|ORC3L_uc011dzm.1_Silent_p.P430P|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.P430P|ORC3L_uc003pmi.2_Silent_p.P392P|ORC3L_uc011dzo.1_Silent_p.P287P|ORC3L_uc011dzp.1_Silent_p.P287P NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 430 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) CCAAGTATCCACTAGGTCGAC 0.363 NA 21 62 0 0 0.00278 0 0 CNR1 1268 broad.mit.edu 37 6 88854203 88854203 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88854203C>A uc011dzq.1 - 2 4354 c.791G>T c.(790-792)TGC>TTC p.C264F CNR1_uc010kbz.2_Missense_Mutation_p.C264F|CNR1_uc011dzr.1_Missense_Mutation_p.C264F|CNR1_uc011dzs.1_Missense_Mutation_p.C264F|CNR1_uc003pmq.3_Missense_Mutation_p.C264F|CNR1_uc011dzt.1_Missense_Mutation_p.C264F|CNR1_uc010kca.2_Missense_Mutation_p.C231F NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 264 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AATGTCTGAGCAAACAGATTG 0.512 NA 14 31 1.5842e-08 2.31593e-08 0.001855 1 0 CNR1 1268 broad.mit.edu 37 6 88854814 88854814 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:88854814C>G uc011dzq.1 - 2 3743 c.180G>C c.(178-180)GAG>GAC p.E60D CNR1_uc010kbz.2_Missense_Mutation_p.E60D|CNR1_uc011dzr.1_Missense_Mutation_p.E60D|CNR1_uc011dzs.1_Missense_Mutation_p.E60D|CNR1_uc003pmq.3_Missense_Mutation_p.E60D|CNR1_uc011dzt.1_Missense_Mutation_p.E60D|CNR1_uc010kca.2_Missense_Mutation_p.E27D NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 60 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CAGTCATCTTCTCTTGGAAGG 0.463 NA 17 17 0 0 0.00499 0 0 C6orf168 84553 broad.mit.edu 37 6 99790813 99790813 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:99790813C>A uc003ppj.3 - 2 646 c.363G>T c.(361-363)AAG>AAT p.K121N C6orf168_uc003ppi.3_5'UTR NM_032511 NP_115900 Q5TGI0 CF168_HUMAN hypothetical protein LOC84553 121 ovary(2)|central_nervous_system(1) 3 all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198) BRCA - Breast invasive adenocarcinoma(108;0.073) AAGTTTCCATCTTTAAACAGA 0.353 NA 19 26 1.56452e-12 2.50899e-12 0.007413 1 0 SIM1 6492 broad.mit.edu 37 6 100838354 100838354 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:100838354T>A uc003pqj.3 - 11 2391 c.2184A>T c.(2182-2184)AGA>AGT p.R728S SIM1_uc010kcu.2_Missense_Mutation_p.R728S NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 728 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGGAATAGTTTCTAATGGTTT 0.448 NA 54 63 0 0 0.00361 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746181 110746181 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:110746181C>T uc003puf.2 - 8 1696 c.1629G>A c.(1627-1629)GAG>GAA p.E543E SLC22A16_uc003pue.2_Silent_p.E524E NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 543 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CATTCTCTGACTCCAGTTTTG 0.473 NA 35 68 0 0 0.003271 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135263559 135263559 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:135263559G>T uc003qew.2 - 3 483 c.430C>A c.(430-432)CCG>ACG p.P144T ALDH8A1_uc003qex.2_Missense_Mutation_p.P144T|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.P144T NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 144 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ACTCCCACCGGGGCCCGCACC 0.572 NA 24 23 2.39556e-15 4.11711e-15 0.00278 1 0 MAP3K5 4217 broad.mit.edu 37 6 136934306 136934306 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:136934306T>A uc003qhc.2 - 17 2728 c.2367A>T c.(2365-2367)GAA>GAT p.E789D MAP3K5_uc011edj.1_Missense_Mutation_p.E36D|MAP3K5_uc011edk.1_Missense_Mutation_p.E634D NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 789 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATTTTAATCCTTCCAGTATTT 0.383 NA 20 25 0 0 0.008871 0 0 UST 10090 broad.mit.edu 37 6 149340274 149340274 + Splice_Site SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:149340274G>A uc003qmg.2 + 6 978 c.682_splice c.e6-1 p.D228_splice NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TTCTCTTCTAGGATATCAATG 0.403 NA 22 45 0 0 0.00333 0 0 ESR1 2099 broad.mit.edu 37 6 152419935 152419935 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:152419935T>A uc003qom.3 + 10 1992 c.1622T>A c.(1621-1623)CTG>CAG p.L541Q ESR1_uc010kin.2_Missense_Mutation_p.L541Q|ESR1_uc010kio.2_Missense_Mutation_p.L543Q|ESR1_uc010kip.2_Missense_Mutation_p.L540Q|ESR1_uc003qon.3_Missense_Mutation_p.L541Q|ESR1_uc003qoo.3_Missense_Mutation_p.L541Q|ESR1_uc010kiq.2_Missense_Mutation_p.L139Q|ESR1_uc010kir.2_Missense_Mutation_p.L280Q|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.L126Q|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.L216Q|ESR1_uc011eey.1_3'UTR NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 541 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GACCTGCTGCTGGAGATGCTG 0.577 NA 19 21 0 0 0.001523 0 0 NOX3 50508 broad.mit.edu 37 6 155743903 155743903 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:155743903G>T uc003qqm.2 - 10 1336 c.1233C>A c.(1231-1233)GTC>GTA p.V411V NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 411 Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGAAGGGAGTGACTCCGATCC 0.522 NA 20 73 6.33239e-15 1.07482e-14 0.001523 1 0 NOX3 50508 broad.mit.edu 37 6 155750019 155750019 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:155750019G>T uc003qqm.2 - 9 1157 c.1054C>A c.(1054-1056)CAC>AAC p.H352N NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 352 Extracellular (Potential).|FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GCCCGGATGTGCACGCTGAAA 0.637 NA 22 32 4.35082e-09 6.52963e-09 0.001523 1 0 INTS1 26173 broad.mit.edu 37 7 1539894 1539894 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:1539894C>A uc003skn.2 - 4 559 c.458G>T c.(457-459)CGC>CTC p.R153L INTS1_uc003skq.2_Missense_Mutation_p.R153L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 153 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGGCTTGGCGCGGGTGACCTT 0.627 NA 4 5 1.23904e-05 1.6642e-05 0.000602 1 0 FOXK1 221937 broad.mit.edu 37 7 4798711 4798711 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:4798711G>T uc003snc.1 + 6 1284 c.1274G>T c.(1273-1275)GGG>GTG p.G425V FOXK1_uc003sna.1_Missense_Mutation_p.G262V NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 425 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACACACCCCGGGCTGATGTCC 0.667 NA 24 58 1.1804e-14 1.99647e-14 0.003954 1 0 TMEM195 392636 broad.mit.edu 37 7 15405794 15405794 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:15405794C>T uc003stb.1 - 11 1298 c.1128G>A c.(1126-1128)TTG>TTA p.L376L NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 376 Helical; (Potential). ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CAATGGAAGTCAAGGTCAGGA 0.383 NA 16 10 0 0 0.003163 0 0 ITGB8 3696 broad.mit.edu 37 7 20420288 20420288 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:20420288G>T uc003suu.2 + 5 1341 c.636_splice c.e5-1 p.S212_splice ITGB8_uc011jyh.1_Splice_Site_p.S77_splice|ITGB8_uc003sut.2_Splice_Site_p.S212_splice NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 TTCCCACACAGTGACTACAAT 0.383 NA 13 57 1.5842e-08 2.31593e-08 0.001855 1 0 BMPER 168667 broad.mit.edu 37 7 34182920 34182920 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:34182920C>G uc011kap.1 + 14 1938 c.1824C>G c.(1822-1824)GCC>GCG p.A608A NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 608 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 ATACCCGGGCCTGCCAGAGAG 0.473 NA 11 60 0 0 0.008291 0 0 C7orf36 57002 broad.mit.edu 37 7 39611874 39611874 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:39611874A>G uc003thc.3 + 3 261 c.252_splice c.e3-2 p.S84_splice NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 0 ACTTTTGTTCAGTGCTTTGCT 0.308 NA 4 19 0 0 0.000248 0 0 HECW1 23072 broad.mit.edu 37 7 43519207 43519207 + Splice_Site SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:43519207A>G uc003tid.1 + 17 3705 c.3100_splice c.e17-2 p.S1034_splice HECW1_uc011kbi.1_Splice_Site_p.S1000_splice NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GTCTGTTCGCAGTCTTTTTTC 0.493 NA 48 20 0 0 0.00361 0 0 HECW1 23072 broad.mit.edu 37 7 43548674 43548674 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:43548674G>A uc003tid.1 + 24 4578 c.3973G>A c.(3973-3975)GTG>ATG p.V1325M HECW1_uc011kbi.1_Missense_Mutation_p.V1291M|uc003tig.1_RNA NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1325 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TACTTACACGGTGCAGATCAG 0.448 NA 59 11 0 0 0.00361 0 0 ABCA13 154664 broad.mit.edu 37 7 48316083 48316083 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:48316083C>A uc003toq.2 + 17 6845 c.6820C>A c.(6820-6822)CTT>ATT p.L2274I ABCA13_uc010kyr.2_Missense_Mutation_p.L1777I NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2274 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATTCTTCTCCCTTTTTCTAAA 0.343 NA 9 24 7.48243e-07 1.05369e-06 0.006214 1 0 COBL 23242 broad.mit.edu 37 7 51092955 51092955 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:51092955G>A uc003tpr.3 - 12 3804 c.3619C>T c.(3619-3621)CCC>TCC p.P1207S COBL_uc003tps.2_Intron|COBL_uc011kcl.1_Intron|COBL_uc003tpp.3_Missense_Mutation_p.P993S|COBL_uc003tpq.3_Intron|COBL_uc003tpo.3_Missense_Mutation_p.P749S NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 1207 Poly-Pro. skin(3)|ovary(2) 5 Glioma(55;0.08) GGTGGTGGGGGAATGGCTGGT 0.627 NSCLC(189;2119 2138 12223 30818 34679) NA 6 18 0 0 0.001168 0 0 POM121L12 285877 broad.mit.edu 37 7 53103817 53103817 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:53103817G>T uc003tpz.2 + 1 469 c.453G>T c.(451-453)TGG>TGT p.W151C NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 151 0 AGAGCCCCTGGAGATCCCCTG 0.582 NA 9 16 2.17888e-05 2.91836e-05 0.006214 1 0 FKBP9L 360132 broad.mit.edu 37 7 55755564 55755564 + Nonsense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:55755564A>T uc010kzl.2 - 4 429 c.329T>A c.(328-330)TTG>TAG p.L110* FKBP9L_uc010kzk.2_5'UTR|FKBP9L_uc003tqt.2_5'UTR|FKBP9L_uc011kcs.1_5'UTR NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 GTCCATCCCCAACACAACTTG 0.507 NA 21 62 0 0 0.001882 0 0 CD36 948 broad.mit.edu 37 7 80286010 80286010 + Missense_Mutation SNP C C T rs150037612 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:80286010C>T uc003uhc.2 + 7 959 c.275C>T c.(274-276)ACG>ATG p.T92M CD36_uc003uhd.3_Missense_Mutation_p.T92M|CD36_uc011kgv.1_Missense_Mutation_p.T16M|CD36_uc003uhe.3_Missense_Mutation_p.T92M|CD36_uc003uhf.3_Missense_Mutation_p.T92M|CD36_uc003uhg.3_Missense_Mutation_p.T92M|CD36_uc003uhh.3_Missense_Mutation_p.T92M NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 92 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 GGTCCTTATACGTACAGGTGA 0.388 NA 23 63 0 0 0.00278 0 0 HGF 3082 broad.mit.edu 37 7 81388012 81388012 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:81388012G>T uc003uhl.2 - 3 528 c.363C>A c.(361-363)AAC>AAA p.N121K HGF_uc003uhm.2_Missense_Mutation_p.N121K|HGF_uc003uhn.1_Missense_Mutation_p.N121K|HGF_uc003uho.1_Missense_Mutation_p.N121K|HGF_uc003uhp.2_Missense_Mutation_p.N121K NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 121 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 AGTTACCTTTGTTTTCATAGA 0.338 NA 37 34 1.90571e-15 3.29887e-15 0.004289 1 0 HGF 3082 broad.mit.edu 37 7 81392114 81392114 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:81392114G>T uc003uhl.2 - 2 328 c.163C>A c.(163-165)CCA>ACA p.P55T HGF_uc003uhm.2_Missense_Mutation_p.P55T|HGF_uc003uhn.1_Missense_Mutation_p.P55T|HGF_uc003uho.1_Missense_Mutation_p.P55T|HGF_uc003uhp.2_Missense_Mutation_p.P55T NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 55 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TTCAGTGCTGGATCTATTTTG 0.308 NA 19 42 2.4624e-09 3.72467e-09 0.008871 1 0 ZAN 7455 broad.mit.edu 37 7 100385716 100385716 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:100385716C>T uc003uwj.2 + 39 7350 c.7185C>T c.(7183-7185)GTC>GTT p.V2395V ZAN_uc003uwk.2_Silent_p.V2395V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.V445V NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2395 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTACCACCGTCTACGGCTATA 0.607 NA 49 5 0 0 0.00361 0 0 SPDYE6 729597 broad.mit.edu 37 7 101988908 101988908 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:101988908G>T uc011kkp.1 - 6 1386 c.965C>A c.(964-966)CCG>CAG p.P322Q SPDYE6_uc003uzb.2_Missense_Mutation_p.P178Q NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN speedy homolog E6 322 Arg-rich. 0 CCTGGCCCTCGGGTTCGTGGA 0.572 NA 83 391 3.19434e-75 7.01001e-75 0.00361 1 0 SPDYE6 729597 broad.mit.edu 37 7 101988946 101988946 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:101988946G>A uc011kkp.1 - 6 1348 c.927C>T c.(925-927)CTC>CTT p.L309L SPDYE6_uc003uzb.2_Silent_p.L165L NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN speedy homolog E6 309 Arg-rich. 0 GACGCTTACGGAGCAAGGGTA 0.572 NA 83 538 0 0 0.00361 0 0 C7orf60 154743 broad.mit.edu 37 7 112555399 112555399 + Missense_Mutation SNP T T G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:112555399T>G uc003vgo.1 - 2 391 c.264A>C c.(262-264)AAA>AAC p.K88N C7orf60_uc011kms.1_Missense_Mutation_p.K114N NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 88 ovary(2)|skin(1) 3 CCTCACAAGTTTTTGCCCAAT 0.343 NA 81 11 0 0 0.00361 0 0 LRRC4 64101 broad.mit.edu 37 7 127670199 127670199 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:127670199G>T uc003vmk.2 - 2 632 c.495C>A c.(493-495)TAC>TAA p.Y165* SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 165 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GGTTGAAGGCGTAAGAGGGGA 0.572 NA 96 11 8.98033e-41 1.90957e-40 0.00361 1 0 PLXNA4 91584 broad.mit.edu 37 7 131831332 131831332 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:131831332C>T uc003vra.3 - 28 5221 c.4992G>A c.(4990-4992)AAG>AAA p.K1664K PLXNA4_uc003vqz.3_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1664 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GGTCCCCCTCCTTCTGGTCTC 0.582 NA 128 167 0 0 0.00361 0 0 STRA8 346673 broad.mit.edu 37 7 134931195 134931196 + Missense_Mutation DNP TG TG AT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:134931195_134931196TG>AT uc011kpx.1 + 6 473_474 c.473_474TG>AT c.(472-474)ATG>AAT p.M158N NM_182489 NP_872295 Q7Z7C7 STRA8_HUMAN STRA8 158 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus 0 AAACAGACGATGGACCTTCTGA 0.594 NA 9 4 0 0 0.004672 0 0 DENND2A 27147 broad.mit.edu 37 7 140269479 140269479 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:140269479C>G uc010lnj.2 - 5 1651 c.1506G>C c.(1504-1506)AGG>AGC p.R502S DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R502S|DENND2A_uc003vvw.2_Missense_Mutation_p.R502S|DENND2A_uc003vvx.2_Missense_Mutation_p.R502S NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 502 ovary(3)|breast(1) 4 Melanoma(164;0.00956) ACTGGGACAGCCTCTTCACCC 0.537 NA 133 26 0 0 0.00361 0 0 TRYX3 136541 broad.mit.edu 37 7 141954941 141954941 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:141954941A>T uc003vxb.2 - 3 690 c.370T>A c.(370-372)TAC>AAC p.Y124N TRYX3_uc003vxc.3_Missense_Mutation_p.Y124N NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 124 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) ATAGTTTGGTAGGGCAGGTTG 0.403 NA 160 19 0 0 0.00361 0 0 KEL 3792 broad.mit.edu 37 7 142639611 142639611 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:142639611G>A uc003wcb.2 - 18 2157 c.1947C>T c.(1945-1947)TAC>TAT p.Y649Y NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 649 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GCCTCTTGCTGTATGCCTGGG 0.587 NA 17 3 0 0 0.007413 0 0 OR2A25 392138 broad.mit.edu 37 7 143771704 143771704 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:143771704A>G uc011ktx.1 + 1 392 c.392A>G c.(391-393)TAT>TGT p.Y131C NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CCTCTCCGATATTCTACCATC 0.463 NA 145 23 0 0 0.00361 0 0 SSPO 23145 broad.mit.edu 37 7 149482053 149482053 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:149482053C>T uc010lpk.2 + 20 2841 c.2841C>T c.(2839-2841)TGC>TGT p.C947C SSPO_uc010lpl.1_Missense_Mutation_p.A283V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 947 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCACTCCTGCCCTGCAGGCA 0.622 NA 27 6 0 0 0.004656 0 0 KCNH2 3757 broad.mit.edu 37 7 150648710 150648710 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:150648710C>G uc003wic.2 - 7 1784 c.1771G>C c.(1771-1773)GAC>CAC p.D591H KCNH2_uc003wib.2_Missense_Mutation_p.D251H|KCNH2_uc011kux.1_Missense_Mutation_p.D495H|KCNH2_uc003wid.2_Missense_Mutation_p.D251H|KCNH2_uc003wie.2_Missense_Mutation_p.D591H NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 591 Extracellular (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCTATCTGGTCGCCCAGGTTG 0.612 GBM(137;110 1844 13671 20123 45161) NA 73 10 0 0 0.00361 0 0 MLL3 58508 broad.mit.edu 37 7 151947003 151947003 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:151947003G>A uc003wla.2 - 13 1990 c.1771C>T c.(1771-1773)CAT>TAT p.H591Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 591 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTGAGGGATGACTCTTCTGT 0.368 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 14 52 0 0 0.00245 0 0 RP1L1 94137 broad.mit.edu 37 8 10465352 10465352 + Missense_Mutation SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10465352C>G uc003wtc.2 - 4 6485 c.6256G>C c.(6256-6258)GAT>CAT p.D2086H NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2086 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGGCATCTACATCTTCT 0.632 NA 57 119 0 0 0.00361 0 0 RP1L1 94137 broad.mit.edu 37 8 10465782 10465782 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10465782C>A uc003wtc.2 - 4 6055 c.5826G>T c.(5824-5826)GAG>GAT p.E1942D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1942 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCTCTTCTGCCTCTTGGGCCT 0.602 NA 79 85 1.91123e-38 4.04606e-38 0.00361 1 0 RP1L1 94137 broad.mit.edu 37 8 10467877 10467877 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10467877T>A uc003wtc.2 - 4 3960 c.3731A>T c.(3730-3732)TAT>TTT p.Y1244F NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1244 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGGGCTCTCATAAGTTCTTGA 0.562 NA 25 37 0 0 0.00333 0 0 RP1L1 94137 broad.mit.edu 37 8 10469061 10469061 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10469061A>G uc003wtc.2 - 4 2776 c.2547T>C c.(2545-2547)TGT>TGC p.C849C NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 849 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGTACCTGCCACACAGCCAGC 0.736 NA 5 2 0 0 0.000602 0 0 RP1L1 94137 broad.mit.edu 37 8 10469837 10469837 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10469837C>A uc003wtc.2 - 4 2000 c.1771G>T c.(1771-1773)GCA>TCA p.A591S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 591 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGCGTCTCTGCCTGCAGGTCG 0.642 NA 13 92 0.000151284 0.000197659 0.001855 1 0 XKR6 286046 broad.mit.edu 37 8 10755777 10755777 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:10755777C>A uc003wtk.1 - 3 1638 c.1611G>T c.(1609-1611)CGG>CGT p.R537R NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 537 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CCTGGGTCCCCCGGTACCCAG 0.617 NA 11 15 0.000978159 0.00124741 0.000978 1 0 MTMR9 66036 broad.mit.edu 37 8 11174306 11174306 + Missense_Mutation SNP G G T rs149021500 byFrequency TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:11174306G>T uc003wtm.2 + 8 1636 c.1238G>T c.(1237-1239)TGT>TTT p.C413F MTMR9_uc010lrx.2_Missense_Mutation_p.C306F|MTMR9_uc011kxa.1_Missense_Mutation_p.C328F|uc003wtn.1_RNA NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 413 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CAGTTTCCCTGTTCTTTTGAG 0.448 NA 22 54 1.55795e-14 2.62118e-14 0.001882 1 0 FDFT1 2222 broad.mit.edu 37 8 11687842 11687842 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:11687842C>G uc003wui.2 + 6 944 c.792C>G c.(790-792)ACC>ACG p.T264T FDFT1_uc003wuh.2_Silent_p.T200T|FDFT1_uc010lsa.1_Silent_p.T179T|FDFT1_uc011kxe.1_Silent_p.T200T|FDFT1_uc011kxf.1_Silent_p.T221T|FDFT1_uc011kxg.1_Silent_p.T97T|FDFT1_uc003wuj.2_Silent_p.T257T|FDFT1_uc010lsb.2_Silent_p.T200T|FDFT1_uc011kxh.1_Silent_p.T200T|FDFT1_uc011kxi.1_Intron|FDFT1_uc011kxj.1_Silent_p.T200T|FDFT1_uc003wuk.2_Silent_p.T323T|FDFT1_uc011kxk.1_Silent_p.T179T NM_004462 NP_004453 P37268 FDFT_HUMAN squalene synthase 264 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity 0 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) AACTTATAACCAATGCACTGC 0.463 NA 29 62 0 0 0.001786 0 0 DLC1 10395 broad.mit.edu 37 8 12957737 12957737 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:12957737C>A uc003wwm.2 - 9 2553 c.2109G>T c.(2107-2109)ATG>ATT p.M703I DLC1_uc003wwk.1_Missense_Mutation_p.M266I|DLC1_uc003wwl.1_Missense_Mutation_p.M300I|DLC1_uc011kxx.1_Missense_Mutation_p.M192I NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 703 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TCTCCTCATCCATCCCCTCTT 0.562 NA 22 32 1.87028e-06 2.59566e-06 0.001882 1 0 SLC7A2 6542 broad.mit.edu 37 8 17401089 17401089 + Missense_Mutation SNP A A C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:17401089A>C uc011kyc.1 + 2 410 c.241A>C c.(241-243)ATG>CTG p.M81L SLC7A2_uc011kyd.1_Missense_Mutation_p.M121L|SLC7A2_uc011kye.1_Missense_Mutation_p.M121L|SLC7A2_uc011kyf.1_Missense_Mutation_p.M81L NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 81 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GGCTTCAGTGATGGCTGGCCT 0.607 NA 12 26 0 0 0.000978 0 0 LPL 4023 broad.mit.edu 37 8 19813423 19813423 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:19813423G>A uc003wzk.3 + 6 1217 c.847G>A c.(847-849)GAA>AAA p.E283K NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 283 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GTTGAATGAAGAAAATCCAAG 0.468 NA 28 33 0 0 0.00632 0 0 UNC5D 137970 broad.mit.edu 37 8 35608159 35608159 + Silent SNP G G C rs145027081 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:35608159G>C uc003xjr.1 + 13 2323 c.1995G>C c.(1993-1995)GCG>GCC p.A665A UNC5D_uc003xjs.1_Silent_p.A660A|UNC5D_uc003xju.1_Silent_p.A241A NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 665 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACCCCTTTGCGTGTCATGTGC 0.488 NA 31 67 0 0 0.002445 0 0 ANK1 286 broad.mit.edu 37 8 41546073 41546073 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:41546073G>T uc003xok.2 - 34 4223 c.4139C>A c.(4138-4140)ACG>AAG p.T1380K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.T696K|ANK1_uc003xoi.2_Missense_Mutation_p.T1380K|ANK1_uc003xoj.2_Missense_Mutation_p.T1380K|ANK1_uc003xol.2_Missense_Mutation_p.T1380K|ANK1_uc003xom.2_Missense_Mutation_p.T1421K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1380 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCCAGGGGCGTCGGGGTCCT 0.567 NA 21 45 2.39556e-15 4.11711e-15 0.00278 1 0 HGSNAT 138050 broad.mit.edu 37 8 43025733 43025733 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:43025733G>T uc003xpx.3 + 7 687 c.639G>T c.(637-639)CTG>CTT p.L213L NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 241 Cytoplasmic (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGAAGGAGCTGGGATCTCCCA 0.453 NA 12 14 2.27111e-07 3.25074e-07 0.001368 1 0 SNTG1 54212 broad.mit.edu 37 8 51617187 51617187 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:51617187C>A uc010lxy.1 + 17 1437 c.1066C>A c.(1066-1068)CAG>AAG p.Q356K SNTG1_uc003xqs.1_Missense_Mutation_p.Q356K|SNTG1_uc010lxz.1_Missense_Mutation_p.Q356K|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 356 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CCGACGGAAACAGTGCTTCAC 0.552 NA 93 99 6.84326e-50 1.48142e-49 0.00361 1 0 SNTG1 54212 broad.mit.edu 37 8 51705364 51705364 + Missense_Mutation SNP C C A rs149567485 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:51705364C>A uc010lxy.1 + 20 1900 c.1529C>A c.(1528-1530)ACG>AAG p.T510K SNTG1_uc003xqs.1_Missense_Mutation_p.T510K|SNTG1_uc010lxz.1_Missense_Mutation_p.T473K|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 510 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTGCTACCACGAGCAAAGCA 0.433 NA 84 116 1.17611e-34 2.45728e-34 0.00361 1 0 PXDNL 137902 broad.mit.edu 37 8 52366215 52366215 + Silent SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:52366215C>A uc003xqu.3 - 10 1214 c.1113G>T c.(1111-1113)CTG>CTT p.L371L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 371 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGATCCATCCAGCTCCAATC 0.502 NA 59 46 5.82218e-30 1.19305e-29 0.00361 1 0 CHD7 55636 broad.mit.edu 37 8 61754571 61754571 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:61754571A>T uc003xue.2 + 21 5287 c.4810A>T c.(4810-4812)AGT>TGT p.S1604C NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1604 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTATGCAAGGAGTGAATGTTT 0.443 NA 7 51 0 0 0.004482 0 0 GGH 8836 broad.mit.edu 37 8 63951236 63951236 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:63951236G>A uc003xuw.2 - 1 375 c.92C>T c.(91-93)GCC>GTC p.A31V NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 31 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) GGGCTTCTTGGCGGTGTCGCC 0.726 NA 7 13 0 0 0.006214 0 0 CSPP1 79848 broad.mit.edu 37 8 68044212 68044212 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:68044212A>G uc003xxi.2 + 16 1845 c.1814A>G c.(1813-1815)AAG>AGG p.K605R CSPP1_uc003xxg.1_Missense_Mutation_p.K597R|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.K570R|CSPP1_uc003xxk.2_Missense_Mutation_p.K276R NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 605 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AATGAACTGAAGATTACAAGT 0.338 NA 49 110 0 0 0.00361 0 0 XKR9 389668 broad.mit.edu 37 8 71593465 71593465 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:71593465T>A uc003xyq.2 + 3 706 c.172T>A c.(172-174)TTT>ATT p.F58I XKR9_uc010lze.2_Missense_Mutation_p.F58I|XKR9_uc010lzd.2_5'UTR NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 58 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GGCTCAGTGTTTTAGTTATTC 0.378 NA 36 657 0 0 0.003755 0 0 RDH10 157506 broad.mit.edu 37 8 74235015 74235015 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:74235015G>T uc003xzi.2 + 5 1132 c.872G>T c.(871-873)CGC>CTC p.R291L RDH10_uc003xzj.2_Missense_Mutation_p.R126L|uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 291 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TGCACTCCCCGCCTCATGTAC 0.512 NA 69 68 4.83874e-46 1.04044e-45 0.00361 1 0 JPH1 56704 broad.mit.edu 37 8 75227360 75227360 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:75227360C>A uc003yae.2 - 2 915 c.875G>T c.(874-876)GGC>GTC p.G292V JPH1_uc003yaf.2_Missense_Mutation_p.G292V|JPH1_uc003yag.1_Missense_Mutation_p.G156V NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 292 Cytoplasmic (Potential).|MORN 6. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AACGCCGAAGCCGTTGCGCTT 0.547 NA 105 108 5.74361e-68 1.2547e-67 0.00361 1 0 CA1 759 broad.mit.edu 37 8 86240798 86240798 + Silent SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:86240798A>T uc003ydh.2 - 9 977 c.777T>A c.(775-777)GCT>GCA p.A259A CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Silent_p.A259A|CA1_uc003ydi.2_Silent_p.A259A NM_001738 NP_001729 P00915 CAH1_HUMAN carbonic anhydrase I 259 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ATCAAAATGAAGCTCTCACTG 0.403 NA 15 128 0 0 0.00499 0 0 SLC26A7 115111 broad.mit.edu 37 8 92261894 92261894 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:92261894G>A uc003yex.2 + 3 293 c.15G>A c.(13-15)AAG>AAA p.K5K SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.K5K|SLC26A7_uc003yfa.2_Silent_p.K5K NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 5 Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CAGGAGCAAAGAGGAAAAAGA 0.413 NA 45 61 0 0 0.00361 0 0 RBM12B 389677 broad.mit.edu 37 8 94747176 94747176 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:94747176G>A uc003yfz.2 - 3 1656 c.1463C>T c.(1462-1464)TCT>TTT p.S488F NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 488 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGACATCACAGAAAAATTTAC 0.408 NA 16 280 0 0 0.00499 0 0 RRM2B 50484 broad.mit.edu 37 8 103244533 103244533 + Splice_Site SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:103244533C>T uc003ykn.2 - 2 293 c.49_splice c.e2-1 p.R17_splice RRM2B_uc003yko.2_Splice_Site|RRM2B_uc010mbv.1_Intron|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Splice_Site|RRM2B_uc010mby.1_Intron NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) AAGATGATCTCTTTGAAAAAT 0.353 NA Direct_reversal_of_damage|Modulation_of_nucleotide_pools 55 48 0 0 0.00361 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815123 106815123 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:106815123C>A uc003ymd.2 + 8 2836 c.2813C>A c.(2812-2814)ACC>AAC p.T938N ZFPM2_uc011lhs.1_Missense_Mutation_p.T669N NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 938 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACCTAGCAACCCTGCAAGGC 0.423 NA 13 20 2.61681e-11 4.12751e-11 0.00245 1 0 CSMD3 114788 broad.mit.edu 37 8 113960063 113960063 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:113960063A>T uc003ynu.2 - 9 1623 c.1464T>A c.(1462-1464)GAT>GAA p.D488E CSMD3_uc003ynt.2_Missense_Mutation_p.D448E|CSMD3_uc011lhx.1_Missense_Mutation_p.D384E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 488 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTTCTCCTGGATCTGGGCATA 0.303 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 62 0 0 0.006214 0 0 COL14A1 7373 broad.mit.edu 37 8 121344966 121344966 + Missense_Mutation SNP G G C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:121344966G>C uc003yox.2 + 42 5042 c.4777G>C c.(4777-4779)GGA>CGA p.G1593R COL14A1_uc003yoz.2_Missense_Mutation_p.G558R NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1593 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGGCGCCCTGGGACCACCTGT 0.502 NA 10 32 0 0 0.000978 0 0 GSDMC 56169 broad.mit.edu 37 8 130760847 130760847 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:130760847T>A uc003ysr.2 - 14 2309 c.1427A>T c.(1426-1428)GAG>GTG p.E476V NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 476 mitochondrion ovary(2)|skin(1) 3 GTTATCCAGCTCCATCCTAAG 0.577 NA 13 84 0 0 0.00245 0 0 FLJ43860 389690 broad.mit.edu 37 8 142450389 142450389 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:142450389G>T uc003ywi.2 - 26 3240 c.3159C>A c.(3157-3159)CCC>CCA p.P1053P FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 1053 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCTCAGGGCTGGGGTCGTGGA 0.627 NA 5 7 0.000602214 0.000770031 0.000602 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994079 143994079 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:143994079C>A uc003yxk.1 - 8 1268 c.1265G>T c.(1264-1266)CGG>CTG p.R422L NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 422 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGATTATACCGCTCAGGCCT 0.622 NA Familial_Hyperaldosteronism_type_I 61 50 7.41606e-26 1.47552e-25 0.00361 1 0 ZNF623 9831 broad.mit.edu 37 8 144733608 144733608 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:144733608G>T uc003yzd.2 + 1 1655 c.1566G>T c.(1564-1566)TTG>TTT p.L522F ZNF623_uc011lkp.1_Missense_Mutation_p.L482F|ZNF623_uc003yzc.2_Missense_Mutation_p.L482F NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCATACATTTGGGTGAGAGGT 0.413 NA 38 68 9.80977e-26 1.92384e-25 0.004289 1 0 MAF1 84232 broad.mit.edu 37 8 145161324 145161324 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:145161324G>T uc003zbc.1 + 5 958 c.457G>T c.(457-459)GCG>TCG p.A153S SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 153 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGTGGAACGCGGTGGACGA 0.592 NA 20 30 1.15919e-05 1.56352e-05 0.008871 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777002 18777002 + Silent SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:18777002G>T uc003zne.3 + 19 2902 c.2775G>T c.(2773-2775)ACG>ACT p.T925T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 925 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CGCACGTCACGGTGGCCCCCT 0.672 NA 18 63 1.99824e-07 2.86873e-07 0.00499 1 0 TAF1L 138474 broad.mit.edu 37 9 32635372 32635372 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:32635372C>A uc003zrg.1 - 1 296 c.206G>T c.(205-207)GGG>GTG p.G69V uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 69 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) CCCCAAAGCCCCCAAGCCTGC 0.537 NA 16 51 3.52763e-06 4.83286e-06 0.00499 1 0 CCL21 6366 broad.mit.edu 37 9 34709603 34709603 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:34709603G>T uc003zvo.2 - 3 349 c.265C>A c.(265-267)CAT>AAT p.H89N NM_002989 NP_002980 O00585 CCL21_HUMAN small inducible cytokine A21 precursor 89 activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation extracellular space CCR7 chemokine receptor binding|chemokine activity 0 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TTGTCCAGATGCTGCATCAGC 0.607 NA 34 32 1.99505e-19 3.68643e-19 0.002445 1 0 C9orf131 138724 broad.mit.edu 37 9 35043482 35043482 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:35043482C>A uc003zvw.2 + 2 885 c.856C>A c.(856-858)CTC>ATC p.L286I C9orf131_uc003zvu.2_Missense_Mutation_p.L238I|C9orf131_uc003zvv.2_Missense_Mutation_p.L213I|C9orf131_uc003zvx.2_Missense_Mutation_p.L251I NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 286 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ATCACTACTCCTCCATCTGAG 0.567 NA 62 45 9.59835e-30 1.95431e-29 0.00361 1 0 FLJ43950 347127 broad.mit.edu 37 9 84530665 84530665 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:84530665C>A uc011lst.1 + 4 687 c.586C>A c.(586-588)CTG>ATG p.L196M NR_026851 SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein; 0 GAGGGACCCTCTGCCACCACA 0.542 NA 131 26 5.21138e-58 1.13584e-57 0.00361 1 0 RASEF 158158 broad.mit.edu 37 9 85615133 85615133 + Silent SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:85615133G>A uc004amo.1 - 12 1935 c.1674C>T c.(1672-1674)CTC>CTT p.L558L NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 558 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 AAAGTCTCATGAGGAAACTAG 0.443 NA 60 5 0 0 0.00361 0 0 ZNF510 22869 broad.mit.edu 37 9 99521621 99521621 + Silent SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:99521621A>G uc004awn.1 - 6 1680 c.1491T>C c.(1489-1491)TTT>TTC p.F497F ZNF510_uc004awo.1_Silent_p.F497F NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 497 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ACTTCTGAACAAAAGTTTTCC 0.408 NA 131 16 0 0 0.00361 0 0 MRPL50 54534 broad.mit.edu 37 9 104152812 104152812 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:104152812G>A uc004bbe.2 - 2 458 c.413C>T c.(412-414)TCT>TTT p.S138F MRPL50_uc011lvj.1_Intron NM_019051 NP_061924 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 138 mitochondrion|ribosome 0 Acute lymphoblastic leukemia(62;0.0559) ATCAAATTTAGATCTATCTTG 0.408 NA 86 16 0 0 0.00361 0 0 DFNB31 25861 broad.mit.edu 37 9 117240967 117240967 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:117240967T>A uc004biz.3 - 2 1352 c.703A>T c.(703-705)ACC>TCC p.T235S DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.T235S|DFNB31_uc004bjb.2_Missense_Mutation_p.T235S NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 235 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 TCCACCCAGGTGTAGATGTGG 0.667 NA 16 2 0 0 0.004007 0 0 PAPPA 5069 broad.mit.edu 37 9 118949571 118949571 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:118949571T>C uc004bjn.2 + 2 935 c.554T>C c.(553-555)ATC>ACC p.I185T PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 185 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGACCACCATCAATGCCCAC 0.557 NA 18 74 0 0 0.00278 0 0 NCS1 23413 broad.mit.edu 37 9 132988695 132988695 + Nonsense_Mutation SNP G G T rs11440892 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:132988695G>T uc004bzi.2 + 7 588 c.502G>T c.(502-504)GAG>TAG p.E168* NCS1_uc010myz.1_Nonsense_Mutation_p.E150* NM_014286 NP_055101 P62166 NCS1_HUMAN frequenin homolog isoform 1 168 3.|EF-hand 4. negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding 0 GACCCTGCAGGAGTTCCAGGA 0.647 Melanoma(30;182 1162 22581 33240) NA 12 24 1.3612e-06 1.90014e-06 0.003163 1 0 BAT2L1 84726 broad.mit.edu 37 9 134354714 134354714 + Nonsense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:134354714G>T uc004can.3 + 18 4889 c.4834G>T c.(4834-4836)GAG>TAG p.E1612* BAT2L1_uc004cao.3_Nonsense_Mutation_p.E970* NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1612 protein binding 0 CTTATGTCTGGAGCAAGGTGA 0.572 NA 13 10 1.5842e-08 2.31593e-08 0.001855 1 0 COL5A1 1289 broad.mit.edu 37 9 137701111 137701111 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:137701111G>A uc004cfe.2 + 43 3831 c.3449G>A c.(3448-3450)GGT>GAT p.G1150D NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1150 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCCCTGTGGGTCCCCCTGGA 0.622 NA 5 17 0 0 0.000602 0 0 LCN8 138307 broad.mit.edu 37 9 139650984 139650984 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:139650984G>T uc004cjb.1 - 3 565 c.216C>A c.(214-216)TTC>TTA p.F72L LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.F72L NM_178469 NP_848564 Q6JVE9 LCN8_HUMAN lipocalin 8 95 transport extracellular region binding pancreas(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CAGGAAAAGCGAATTTTCCCG 0.468 NA 62 80 1.02487e-32 2.13663e-32 0.00361 1 0 ZBED1 9189 broad.mit.edu 37 X 2406920 2406920 + Missense_Mutation SNP G G A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:2406920G>A uc004cqg.2 - 2 2042 c.1841C>T c.(1840-1842)ACG>ATG p.T614M DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T614M NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 614 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGACGCGCGTGGCCGTCAC 0.667 NA 46 71 0 0 0.003214 0 0 MXRA5 25878 broad.mit.edu 37 X 3239833 3239833 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:3239833G>T uc004crg.3 - 5 4050 c.3893C>A c.(3892-3894)ACC>AAC p.T1298N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1298 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTTTCTGGTGGTTGTCATGTA 0.373 NA 76 14 3.33186e-49 7.19651e-49 0.00361 1 0 FRMPD4 9758 broad.mit.edu 37 X 12516865 12516865 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:12516865C>T uc004cuz.1 + 2 614 c.108C>T c.(106-108)CCC>CCT p.P36P FRMPD4_uc011mij.1_Silent_p.P28P NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 36 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGTGCCGCCCTATGGATGGG 0.512 NA 22 1 0 0 0.003954 0 0 TLR8 51311 broad.mit.edu 37 X 12938504 12938504 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:12938504C>A uc004cve.2 + 2 1413 c.1345C>A c.(1345-1347)CGT>AGT p.R449S TLR8_uc004cvd.2_Missense_Mutation_p.R467S NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 449 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 CTCTTTTCAACGTCATATCCG 0.378 NA 63 9 8.52622e-23 1.63533e-22 0.00361 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237129 30237129 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:30237129G>T uc004dbz.2 + 2 535 c.432G>T c.(430-432)AGG>AGT p.R144S NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 144 MAGE. protein binding ovary(1) 1 TTGGCAAAAGGTTCAGGGAGC 0.458 NA 7 8 0.00198382 0.00250656 0.001984 1 0 FTHL17 53940 broad.mit.edu 37 X 31089890 31089890 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:31089890C>A uc004dcl.1 - 1 284 c.181G>T c.(181-183)GAC>TAC p.D61Y NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 61 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 ATTTTGTCGTCCGACAGGCGC 0.577 NA 29 30 6.04164e-23 1.16111e-22 0.002096 1 0 FAM47A 158724 broad.mit.edu 37 X 34149868 34149869 + Missense_Mutation DNP GG GG AT TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:34149868_34149869GG>AT uc004ddg.2 - 1 560_561 c.527_528CC>AT c.(526-528)CCC>CAT p.P176H NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 176 Pro-rich. ovary(4)|central_nervous_system(1) 5 CAGGCTCAGTGGGTACCTCTGT 0.584 NA 34 6 0 0 0.004672 0 0 DUSP21 63904 broad.mit.edu 37 X 44703516 44703516 + Silent SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:44703516T>C uc004dgd.2 + 1 268 c.138T>C c.(136-138)AAT>AAC p.N46N NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 46 Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity). cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 TGTCCAGCAATCGCATCACCG 0.522 NA 49 18 0 0 0.00361 0 0 KDM6A 7403 broad.mit.edu 37 X 44966737 44966737 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:44966737G>T uc004dge.3 + 27 4336 c.3961G>T c.(3961-3963)GGG>TGG p.G1321W KDM6A_uc011mkz.1_Missense_Mutation_p.G1373W|KDM6A_uc011mla.1_Missense_Mutation_p.G1276W|KDM6A_uc011mlb.1_Missense_Mutation_p.G1328W|KDM6A_uc011mlc.1_Missense_Mutation_p.G1025W|KDM6A_uc011mld.1_Missense_Mutation_p.G960W NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1321 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TATATGGCATGGGCGGACAAA 0.403 Colon(129;1273 1667 15230 27352 52914) NA D|N|F|S renal|oesophageal SCC|MM 44 6 8.01111e-26 1.57431e-25 0.002522 1 0 HEPH 9843 broad.mit.edu 37 X 65479949 65479949 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:65479949A>G uc011moz.1 + 19 3113 c.3053A>G c.(3052-3054)GAG>GGG p.E1018G HEPH_uc004dwn.2_Missense_Mutation_p.E1018G|HEPH_uc004dwo.2_Missense_Mutation_p.E748G|HEPH_uc010nkr.2_Missense_Mutation_p.E826G|HEPH_uc011mpa.1_Missense_Mutation_p.E1018G NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1015 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CAGAATGGCGAGAACTACCGG 0.488 NA 6 37 0 0 0.00308 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913898 77913898 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:77913898G>T uc004edc.1 - 2 316 c.20C>A c.(19-21)GCC>GAC p.A7D NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 7 nucleic acid binding|zinc ion binding ovary(1) 1 AATATAGGAGGCTGCTAAGTC 0.463 NA 7 4 2.0095e-06 2.76883e-06 0.001984 1 0 POF1B 79983 broad.mit.edu 37 X 84634369 84634369 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:84634369G>T uc004eer.2 - 2 237 c.91C>A c.(91-93)CAC>AAC p.H31N POF1B_uc004ees.2_Missense_Mutation_p.H31N NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 31 actin binding 0 TGGTAGCAGTGGTAATGCTGG 0.557 NA 3 3 6.4e-05 8.45586e-05 0.004672 1 0 RNF128 79589 broad.mit.edu 37 X 106033448 106033448 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:106033448G>T uc004eml.2 + 5 1170 c.920G>T c.(919-921)TGG>TTG p.W307L RNF128_uc004emk.2_Missense_Mutation_p.W281L NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 307 RING-type; atypical. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GTTGACCCATGGCTGTTAGAA 0.318 NA 40 16 2.43277e-16 4.25735e-16 0.00361 1 0 TRPC5 7224 broad.mit.edu 37 X 111090519 111090519 + Missense_Mutation SNP A A G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:111090519A>G uc004epl.1 - 6 2442 c.1523T>C c.(1522-1524)ATC>ACC p.I508T TRPC5_uc004epm.1_Missense_Mutation_p.I508T NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 508 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCCCAAAGAGATCTGCAGAGG 0.448 NA 37 7 0 0 0.00623 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685292 125685292 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:125685292G>T uc004eul.2 - 1 1551 c.1300C>A c.(1300-1302)CAC>AAC p.H434N NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 434 skin(3)|ovary(1) 4 TTGTAGCAGTGGGTGTAGAGC 0.557 NA 56 19 3.40343e-31 7.01911e-31 0.00361 1 0 SAGE1 55511 broad.mit.edu 37 X 134994064 134994064 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:134994064G>T uc004ezh.2 + 18 2640 c.2473G>T c.(2473-2475)GAT>TAT p.D825Y SAGE1_uc010nry.1_Missense_Mutation_p.D794Y|SAGE1_uc011mvv.1_Missense_Mutation_p.D449Y NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 825 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAAAATTAATGATGATATAAA 0.378 NA 12 5 0.00010058 0.000131951 0.001368 1 0 MAGEC3 139081 broad.mit.edu 37 X 140969201 140969201 + Silent SNP C C T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140969201C>T uc011mwp.1 + 4 528 c.528C>T c.(526-528)AGC>AGT p.S176S NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 176 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAGAGAGCGAGCCCTTGT 0.473 NA 35 10 0 0 0.003755 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993867 140993867 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140993867A>T uc004fbt.2 + 4 963 c.677A>T c.(676-678)GAG>GTG p.E226V MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 226 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTACTTTTGAGGGTTTTGCC 0.493 NA HNSCC(15;0.026) 40 26 0 0 0.00874 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994077 140994077 + Missense_Mutation SNP A A T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:140994077A>T uc004fbt.2 + 4 1173 c.887A>T c.(886-888)GAG>GTG p.E296V MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 296 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTACTTTTGAGGGTTTTCCC 0.498 NA HNSCC(15;0.026) 26 26 0 0 0.008361 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904472 144904472 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:144904472G>T uc004fcd.2 + 5 1519 c.529G>T c.(529-531)GTG>TTG p.V177L SLITRK2_uc010nsp.2_Missense_Mutation_p.V177L|SLITRK2_uc010nso.2_Missense_Mutation_p.V177L|SLITRK2_uc011mwq.1_Missense_Mutation_p.V177L|SLITRK2_uc011mwr.1_Missense_Mutation_p.V177L|SLITRK2_uc011mws.1_Missense_Mutation_p.V177L|SLITRK2_uc004fcg.2_Missense_Mutation_p.V177L|SLITRK2_uc011mwt.1_Missense_Mutation_p.V177L NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 177 Extracellular (Potential).|LRR 5. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GCCCAGCAATGTGTTCCGCTT 0.483 NA 31 9 2.80507e-11 4.41718e-11 0.002445 1 0 MAGEA11 4110 broad.mit.edu 37 X 148796170 148796170 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chrX:148796170C>A uc004fdq.2 + 3 228 c.126C>A c.(124-126)TTC>TTA p.F42L HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F13L NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 42 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGGACGACTTCCAGTCAACAG 0.542 NA 8 4 4.84862e-15 8.25901e-15 0.000978 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430891 37430891 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr10:37430891delG uc001iza.1 + 7 997 c.898delG c.(898-900)GAAfs p.E300fs NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 356 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GTCAGCAGAAGAAACACCTAG 0.433 NA 18 81 --- --- --- --- NA NA NA NA NA AKAP3 10566 broad.mit.edu 37 12 4736719 4736719 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:4736719delC uc001qnb.3 - 4 1578 c.1349delG c.(1348-1350)GGTfs p.G450fs NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 450 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AATGTGCTCACCCAGAGTTTT 0.408 NA 67 24 --- --- --- --- NA NA NA NA NA CDKN1B 1027 broad.mit.edu 37 12 12871130 12871131 + Frame_Shift_Ins INS - - G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr12:12871130_12871131insG uc001rat.2 + 1 829_830 c.357_358insG c.(355-360)ATTGGGfs p.I119fs NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 119_120 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CGCCTTTAATTGGGGCTCCGGC 0.629 NA Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 28 43 --- --- --- --- NA NA NA NA NA SECISBP2L 9728 broad.mit.edu 37 15 49284568 49284598 + Frame_Shift_Del DEL TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT - - TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr15:49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT uc001zxe.1 - 18 3283_3313 c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA c.(3148-3180)GAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGAGfs p.E1050fs SECISBP2L_uc001zxd.1_Frame_Shift_Del_p.E1005fs NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 1050_1060 breast(1)|skin(1) 2 CATCCCTGGCTCCAGCACCTCAGGCGCCTCTGCTTCCTCTTCTCCACTTTG 0.532 NA 9 21 --- --- --- --- NA NA NA NA NA PRKCB 5579 broad.mit.edu 37 16 24231342 24231343 + Frame_Shift_Ins INS - - C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:24231342_24231343insC uc002dmd.2 + 17 2121_2122 c.1924_1925insC c.(1924-1926)ACCfs p.T642fs PRKCB_uc002dme.2_3'UTR NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 642 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TGTGGAACTGACCCCCACTGAT 0.421 NA 14 36 --- --- --- --- NA NA NA NA NA SALL1 6299 broad.mit.edu 37 16 51175948 51175948 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr16:51175948delT uc010vgs.1 - 2 216 c.185delA c.(184-186)AAGfs p.K62fs SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 62 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACAGTTCTTCTTGTGGAGCAG 0.483 GBM(103;1352 1446 1855 4775 8890) NA 24 75 --- --- --- --- NA NA NA NA NA NCOR1 9611 broad.mit.edu 37 17 16029437 16029439 + In_Frame_Del DEL TTC TTC - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 TTC TTC - - TTC TTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:16029437_16029439delTTC uc002gpo.2 - 15 1831_1833 c.1591_1593delGAA c.(1591-1593)GAAdel p.E531del NCOR1_uc002gpn.2_In_Frame_Del_p.E531del|NCOR1_uc002gpp.1_In_Frame_Del_p.E422del|NCOR1_uc002gpr.2_In_Frame_Del_p.E422del|NCOR1_uc002gps.1_In_Frame_Del_p.E540del|NCOR1_uc010coz.1_In_Frame_Del_p.E347del|NCOR1_uc010cpb.1_In_Frame_Del_p.E541del|NCOR1_uc010cpa.1_In_Frame_Del_p.E532del NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 531 Potential. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) catctttcttttcttcttctttt 0.123 NA 3 6 --- --- --- --- NA NA NA NA NA MED13 9969 broad.mit.edu 37 17 60072546 60072547 + Frame_Shift_Ins INS - - TA TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr17:60072546_60072547insTA uc002izo.2 - 10 2224_2225 c.2147_2148insTA c.(2146-2148)CAAfs p.Q716fs NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 716 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TCTCACTATTTTGTCTATCTTT 0.361 NA 12 70 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221314 1221314 + Frame_Shift_Del DEL C C - rs67873004 TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:1221314delC uc002lrl.1 + 6 1952 c.837delC c.(835-837)GGCfs p.G279fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)|p.G279F(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCGACTGTGGCCCCCCGCTCT 0.607 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 7 0 --- --- --- --- NA NA NA NA NA PLIN4 729359 broad.mit.edu 37 19 4513123 4513123 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr19:4513123delT uc002mar.1 - 3 807 c.807delA c.(805-807)AAAfs p.K269fs PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 269 27 X 33 AA approximate tandem repeat.|6. lipid particle|plasma membrane 0 GGATGGTTCCTTTGGCCACAT 0.547 NA 9 43 --- --- --- --- NA NA NA NA NA FBXO41 150726 broad.mit.edu 37 2 73493629 73493644 + Frame_Shift_Del DEL CACCTCCACGGCCCAG CACCTCCACGGCCCAG - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CACCTCCACGGCCCAG CACCTCCACGGCCCAG - - CACCTCCACGGCCCAG CACCTCCACGGCCCAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr2:73493629_73493644delCACCTCCACGGCCCAG uc002sjb.1 - 3 1255_1270 c.1255_1270delCTGGGCCGTGGAGGTG c.(1255-1272)CTGGGCCGTGGAGGTGGGfs p.L419fs NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 358_363 Poly-Gly. intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 CCACCGCCCCCACCTCCACGGCCCAGGCTGGCGCTG 0.685 NA 6 4 --- --- --- --- NA NA NA NA NA DNMT3B 1789 broad.mit.edu 37 20 31383432 31383457 + Splice_Site DEL CATGCCTTCTTCTTTTCTCAATAGAA CATGCCTTCTTCTTTTCTCAATAGAA - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 CATGCCTTCTTCTTTTCTCAATAGAA CATGCCTTCTTCTTTTCTCAATAGAA - - CATGCCTTCTTCTTTTCTCAATAGAA CATGCCTTCTTCTTTTCTCAATAGAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr20:31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA uc002wyc.2 + 12 1574 c.1253_splice c.e12-1 p.E418_splice DNMT3B_uc010ztx.1_Splice_Site|DNMT3B_uc010zty.1_Splice_Site|DNMT3B_uc002wyd.2_Splice_Site_p.E398_splice|DNMT3B_uc002wye.2_Splice_Site_p.E398_splice|DNMT3B_uc010gee.2_Splice_Site|DNMT3B_uc010gef.2_Splice_Site|DNMT3B_uc010ztz.1_Splice_Site_p.E356_splice|DNMT3B_uc010zua.1_Splice_Site_p.E322_splice|DNMT3B_uc002wyf.2_Splice_Site_p.E410_splice|DNMT3B_uc002wyg.2_Splice_Site_p.E117_splice NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 GACCTCATCTCATGCCTTCTTCTTTTCTCAATAGAACAAATGGCTT 0.535 NA 11 71 --- --- --- --- NA NA NA NA NA ARPP21 10777 broad.mit.edu 37 3 35729270 35729270 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr3:35729270delC uc003cgb.2 + 6 565 c.301delC c.(301-303)CAAfs p.Q101fs ARPP21_uc003cga.2_Frame_Shift_Del_p.Q101fs|ARPP21_uc011axy.1_Frame_Shift_Del_p.Q101fs|ARPP21_uc003cgf.2_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 101 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TTCCAGCCTGCAAGAGGAGGA 0.358 NA 31 63 --- --- --- --- NA NA NA NA NA PCDHGA10 56106 broad.mit.edu 37 5 140794944 140794944 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr5:140794944delC uc003lkl.1 + 1 2202 c.2202delC c.(2200-2202)GGCfs p.G734fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Frame_Shift_Del_p.G734fs|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 734 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCAGGAGGCGGCTTGACAG 0.662 NA 67 14 --- --- --- --- NA NA NA NA NA LRFN2 57497 broad.mit.edu 37 6 40399674 40399674 + Frame_Shift_Del DEL C C - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr6:40399674delC uc003oph.1 - 2 1644 c.1179delG c.(1177-1179)AAGfs p.K393fs NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 393 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGAGGCGGGACTTGGGGGGTG 0.672 NA 11 37 --- --- --- --- NA NA NA NA NA HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:27222462delT uc003syx.2 - 2 967 c.895delA c.(895-897)ATTfs p.I299fs HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 299 Homeobox. branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 TCTCTGTTAATTTTTTTTTCC 0.448 NA T NUP98 CML 7 103 --- --- --- --- NA NA NA NA NA COL1A2 1278 broad.mit.edu 37 7 94044553 94044553 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:94044553delT uc003ung.1 + 30 2206 c.1735delT c.(1735-1737)TTTfs p.F579fs COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 579 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCATGGTGAGTTTGGTCTCCC 0.348 NA HNSCC(75;0.22) 48 230 --- --- --- --- NA NA NA NA NA ZAN 7455 broad.mit.edu 37 7 100391834 100391834 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr7:100391834delG uc003uwj.2 + 45 8244 c.8079delG c.(8077-8079)GCGfs p.A2693fs ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Frame_Shift_Del_p.A641fs NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2693 VWFC 5.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTGCAGAGCGGGGGAGGTCT 0.632 NA 59 23 --- --- --- --- NA NA NA NA NA MTUS1 57509 broad.mit.edu 37 8 17513510 17513510 + Frame_Shift_Del DEL T T - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr8:17513510delT uc003wxv.2 - 9 3444 c.2970delA c.(2968-2970)GAAfs p.E990fs MTUS1_uc003wxt.2_Frame_Shift_Del_p.E237fs|MTUS1_uc011kyg.1_Frame_Shift_Del_p.E135fs|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Frame_Shift_Del_p.E936fs|MTUS1_uc003wxs.2_Frame_Shift_Del_p.E156fs NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 990 Potential. Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GGACGAATGCTTCATACACTG 0.433 NA 35 42 --- --- --- --- NA NA NA NA NA PRKACG 5568 broad.mit.edu 37 9 71628468 71628468 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:71628468delG uc004agy.2 - 1 572 c.541delC c.(541-543)CTGfs p.L181fs NM_002732 NP_002723 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, 181 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity ovary(1)|pancreas(1)|skin(1) 3 GTCACCTGCAGGTAGCCCTGC 0.637 Esophageal Squamous(110;2236 2623 32146) NA 19 2 --- --- --- --- NA NA NA NA NA STRBP 55342 broad.mit.edu 37 9 125935997 125935997 + Frame_Shift_Del DEL G G - TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee 79b4d8aa-8de9-4af0-8ef0-609725680c1f g.chr9:125935997delG uc004bns.2 - 5 779 c.349delC c.(349-351)CTGfs p.L117fs STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Frame_Shift_Del_p.L103fs|STRBP_uc004bnv.2_Frame_Shift_Del_p.L117fs NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 117 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 GTATTTAACAGGGTCTCTGTG 0.398 NA 60 111 --- --- --- --- NA NA NA NA NA