Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut GLTPD1 80772 broad.mit.edu 37 1 1263084 1263084 + Missense_Mutation SNP C C A rs145750452 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:1263084C>A uc001aeo.2 + 3 1001 c.586C>A c.(586-588)CGT>AGT p.R196S NM_001029885 NP_001025056 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 196 cytoplasm glycolipid binding|glycolipid transporter activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTTCATCCAGCGTGTCTACAA 0.672 NA 21 64 1.64e-05 1.95e-05 1 0 SPSB1 80176 broad.mit.edu 37 1 9416393 9416393 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:9416393G>T uc010oae.1 + 2 782 c.443G>T c.(442-444)CGG>CTG p.R148L SPSB1_uc001apv.2_Missense_Mutation_p.R148L NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 148 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GGGCGCAACCGGCTCTACCAC 0.602 NA 25 47 1.85e-09 2.46e-09 1 0 NPPB 4879 broad.mit.edu 37 1 11918861 11918861 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:11918861C>A uc001atj.2 - 1 132 c.30G>T c.(28-30)GCG>GCT p.A10A NM_002521 NP_002512 P16860 ANFB_HUMAN natriuretic peptide precursor B preproprotein 10 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) GGAGCAGGAGCGCCCGGGAAG 0.527 NA 37 60 2.41e-17 3.52e-17 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12884844 12884844 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:12884844C>T uc001auk.2 - 4 1463 c.1267G>A c.(1267-1269)GAC>AAC p.D423N NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 423 0 AATGACCTGTCGCCATGGTCA 0.468 NA 6 211 0 0 0 0 IGSF21 84966 broad.mit.edu 37 1 18692115 18692115 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:18692115C>G uc001bau.1 + 6 1322 c.939C>G c.(937-939)ATC>ATG p.I313M IGSF21_uc001bav.1_Missense_Mutation_p.I134M NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 313 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACCCACAGATCGACAACGAGG 0.642 NA 23 57 0 0 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28285042 28285042 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:28285042G>T uc001bpg.2 + 8 1252 c.1061G>T c.(1060-1062)CGC>CTC p.R354L SMPDL3B_uc010ofq.1_Missense_Mutation_p.R148L|SMPDL3B_uc010ofr.1_Missense_Mutation_p.R306L|XKR8_uc001bph.1_5'Flank NM_014474 NP_055289 Q92485 ASM3B_HUMAN acid sphingomyelinase-like phosphodiesterase 3B 354 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity ovary(3) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GGGACGCCGCGCTGGGAGCTC 0.632 NA 27 43 2.09e-25 3.21e-25 1 0 CD53 963 broad.mit.edu 37 1 111435056 111435056 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:111435056G>T uc001dzw.2 + 4 324 c.153G>T c.(151-153)ACG>ACT p.T51T CD53_uc001dzx.2_Silent_p.T51T|CD53_uc010owa.1_Silent_p.T51T|CD53_uc001dzy.2_Silent_p.T51T NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 51 Extracellular (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CCTCCCTCACGCTGGGCAATG 0.507 NA 39 105 2.76e-19 4.09e-19 1 0 NBPF10 100132406 broad.mit.edu 37 1 145296541 145296541 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:145296541G>C uc001end.3 + 3 498 c.463G>C c.(463-465)GCA>CCA p.A155P NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.A155P|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 155 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GTGTAGACTGGCACAGCACCT 0.577 NA 44 331 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368536 145368536 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:145368536C>G uc001end.3 + 86 10774 c.10739C>G c.(10738-10740)CCT>CGT p.P3580R NBPF9_uc010oye.1_Missense_Mutation_p.P864R|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.P433R|NBPF10_uc010oyk.1_Missense_Mutation_p.P221R|NBPF10_uc010oyl.1_Missense_Mutation_p.P221R NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3505 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTGAACTACCTGACTCATTC 0.458 NA 9 486 0 0 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783631 149783631 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:149783631T>A uc001esr.2 - 1 298 c.248A>T c.(247-249)CAC>CTC p.H83L HIST2H2BF_uc010pbj.1_Missense_Mutation_p.H83L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.H83L NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 83 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) CTTGTTGTAGTGCGCCAGGCG 0.667 NA 37 89 0 0 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150131289 150131289 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150131289C>A uc001ett.2 + 6 1079 c.801C>A c.(799-801)GGC>GGA p.G267G PLEKHO1_uc001etr.2_Silent_p.G95G|PLEKHO1_uc001ets.2_Silent_p.G84G|PLEKHO1_uc001etu.2_Silent_p.G95G NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 267 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAGAAAGGCCGCTGCGCCT 0.647 NA 20 46 1.64e-05 1.95e-05 1 0 HORMAD1 84072 broad.mit.edu 37 1 150689696 150689696 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150689696C>A uc001evk.1 - 3 202 c.96G>T c.(94-96)AGG>AGT p.R32S HORMAD1_uc001evl.1_Missense_Mutation_p.R32S|HORMAD1_uc001evm.1_5'UTR NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 32 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CTGCTAGAAGCCTCTTCACTA 0.348 NA 43 146 7.71e-36 1.21e-35 1 0 CTSS 1520 broad.mit.edu 37 1 150724474 150724474 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150724474C>A uc001evn.2 - 5 543 c.410G>T c.(409-411)GGT>GTT p.G137V CTSS_uc010pcj.1_Missense_Mutation_p.G87V|CTSS_uc001evo.1_Missense_Mutation_p.G137V NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 137 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) CCAGCAAGCACCACAAGAACC 0.498 NA 21 66 3.62e-10 4.88e-10 1 0 FCRL4 83417 broad.mit.edu 37 1 157557067 157557067 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157557067C>A uc001fqw.2 - 5 982 c.846G>T c.(844-846)CAG>CAT p.Q282H FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 282 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AACACTCACGCTGCACATGGA 0.532 NA 67 227 1.32e-23 2e-23 1 0 FCRL2 79368 broad.mit.edu 37 1 157739772 157739772 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157739772G>A uc001fre.2 - 4 538 c.479C>T c.(478-480)CCG>CTG p.P160L FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P160L|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.P160L NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 160 Extracellular (Potential).|Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGGAGCTCCGGAGAGCTGCT 0.537 NA 25 86 0 0 0 0 FCRL1 115350 broad.mit.edu 37 1 157773822 157773822 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157773822C>A uc001frg.2 - 3 245 c.132G>T c.(130-132)CAG>CAT p.Q44H FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.Q44H|FCRL1_uc001fri.2_Missense_Mutation_p.Q44H|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 44 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATCTGAACTCTGTAGAAAGG 0.562 NA 38 149 2.32e-10 3.14e-10 1 0 SPTA1 6708 broad.mit.edu 37 1 158636152 158636152 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:158636152C>A uc001fst.1 - 16 2373 c.2174G>T c.(2173-2175)CGA>CTA p.R725L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 725 Spectrin 8. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTTCCTGAGTCGATTCTGTAC 0.517 NA 10 41 2.27e-07 2.87e-07 1 0 MNDA 4332 broad.mit.edu 37 1 158815619 158815619 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:158815619C>A uc001fsz.1 + 5 1013 c.813C>A c.(811-813)TAC>TAA p.Y271* NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 271 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TATCTGATTACTCTGAATGTA 0.343 NA 13 67 1.5e-05 1.78e-05 1 0 DUSP27 92235 broad.mit.edu 37 1 167096649 167096649 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:167096649A>G uc001geb.1 + 5 2281 c.2281A>G c.(2281-2283)AGC>GGC p.S761G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 761 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ACCAGCGGCTAGCTGCCTGGG 0.562 NA 16 73 0 0 0 0 F5 2153 broad.mit.edu 37 1 169526028 169526028 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:169526028G>A uc001ggg.1 - 6 953 c.808C>T c.(808-810)CAT>TAT p.H270Y F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 270 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCGTTGAAATGAATGGAGAAT 0.507 NA 16 64 0 0 0 0 C1orf129 80133 broad.mit.edu 37 1 170927641 170927641 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:170927641C>A uc001ghg.2 + 4 242 c.112C>A c.(112-114)CTG>ATG p.L38M C1orf129_uc009wvy.2_Translation_Start_Site|C1orf129_uc010plz.1_Missense_Mutation_p.L38M NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 38 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATACTCAGGCCTGTTAAGTAA 0.333 NA 30 142 7.65e-34 1.2e-33 1 0 TNR 7143 broad.mit.edu 37 1 175348704 175348704 + Silent SNP G G A rs140708810 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:175348704G>A uc001gkp.1 - 7 2028 c.1947C>T c.(1945-1947)ACC>ACT p.T649T TNR_uc009wwu.1_Silent_p.T649T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 649 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGGTGGCCCTGGTGGTTGGAC 0.532 NA 19 68 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526124 176526124 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:176526124G>T uc001gkz.2 + 2 1830 c.666G>T c.(664-666)TGG>TGT p.W222C PAPPA2_uc001gky.1_Missense_Mutation_p.W222C|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 222 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 TCCAACCTTGGCCCAAGCATT 0.562 NA 35 110 2e-19 2.97e-19 1 0 ASTN1 460 broad.mit.edu 37 1 176927497 176927497 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:176927497C>T uc001glc.2 - 10 1932 c.1720G>A c.(1720-1722)GAT>AAT p.D574N ASTN1_uc001glb.1_Missense_Mutation_p.D574N|ASTN1_uc001gld.1_Missense_Mutation_p.D574N|ASTN1_uc009wwx.1_Missense_Mutation_p.D574N NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 582 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCACAGCATCCTCCATCACA 0.532 NA 13 49 0 0 0 0 TDRD5 163589 broad.mit.edu 37 1 179587802 179587802 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:179587802A>G uc001gnf.1 + 5 1150 c.900A>G c.(898-900)AAA>AAG p.K300K TDRD5_uc010pnp.1_Silent_p.K300K|TDRD5_uc001gnh.1_5'UTR NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 300 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CAGAACTAAAACATAAGATAA 0.289 NA 31 89 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181690998 181690998 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:181690998C>A uc001gow.2 + 16 2226 c.2061C>A c.(2059-2061)ACC>ACA p.T687T CACNA1E_uc009wxs.2_Silent_p.T594T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 687 Helical; Name=S6 of repeat II.|II. 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 TTGTGCTCACCTTGTTTGGCA 0.537 NA 41 139 2.27e-22 3.42e-22 1 0 CACNA1E 777 broad.mit.edu 37 1 181731752 181731752 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:181731752G>A uc001gow.2 + 33 4813 c.4648G>A c.(4648-4650)GTG>ATG p.V1550M CACNA1E_uc009wxs.2_Missense_Mutation_p.V1438M|CACNA1E_uc001gox.1_Missense_Mutation_p.V776M|CACNA1E_uc009wxt.2_Missense_Mutation_p.V776M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1550 Helical; Name=S3 of repeat IV.|IV. 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 CTTCATCACCGTGATTGGCAG 0.388 NA 10 26 0 0 0 0 CFHR4 10877 broad.mit.edu 37 1 196871597 196871597 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:196871597T>C uc001gto.2 + 2 177 c.108T>C c.(106-108)TAT>TAC p.Y36Y CFHR4_uc009wyy.2_Silent_p.Y35Y|CFHR4_uc001gtp.2_Silent_p.Y36Y NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 36 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 GTCTATATTATAAGAGTTTGC 0.318 NA 71 176 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198701448 198701448 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:198701448G>T uc001gur.1 + 19 2168 c.1988G>T c.(1987-1989)AGC>ATC p.S663I PTPRC_uc001gus.1_Missense_Mutation_p.S615I|PTPRC_uc001gut.1_Missense_Mutation_p.S502I|PTPRC_uc009wzf.1_Missense_Mutation_p.S551I|PTPRC_uc010ppg.1_Missense_Mutation_p.S599I NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 663 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 CGGGTGTTCAGCAAGTTTCCT 0.398 NA 19 83 3.6e-14 5.11e-14 1 0 NR5A2 2494 broad.mit.edu 37 1 200017865 200017865 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:200017865G>T uc001gvb.2 + 5 1235 c.1029G>T c.(1027-1029)GGG>GGT p.G343G NR5A2_uc001gvc.2_Silent_p.G297G|NR5A2_uc009wzh.2_Silent_p.G303G|NR5A2_uc010pph.1_Silent_p.G271G NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 343 Ligand-binding. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GCACCTTTGGGCTTATGTGCA 0.478 NA 42 137 4.14e-30 6.43e-30 1 0 MYOG 4656 broad.mit.edu 37 1 203054660 203054660 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:203054660G>C uc001gzd.2 - 1 718 c.430C>G c.(430-432)CGT>GGT p.R144G NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 144 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 CGGAGGTCACGCTCCTCCTGG 0.701 NA 15 41 0 0 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390886 208390886 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:208390886C>T uc001hgz.2 - 2 1140 c.382G>A c.(382-384)GCC>ACC p.A128T PLXNA2_uc001hha.3_Missense_Mutation_p.A182T NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 128 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTCCCACAGGCCAGCAGGCGG 0.587 NA 34 133 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216373030 216373030 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:216373030C>T uc001hku.1 - 17 4137 c.3750G>A c.(3748-3750)AAG>AAA p.K1250K USH2A_uc001hkv.2_Silent_p.K1250K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1250 Fibronectin type-III 3.|Extracellular (Potential). 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) TTTTCTGCATCTTAGGTGGAC 0.478 NA HNSCC(13;0.011) 21 80 0 0 0 0 KCNK1 3775 broad.mit.edu 37 1 233802661 233802661 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:233802661A>G uc010pxo.1 + 2 844 c.676A>G c.(676-678)ATT>GTT p.I226V KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 226 voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCTGAGCACCATTGGCCTGGG 0.483 NA 35 115 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 241094032 241094032 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:241094032C>A uc001hyv.2 - 6 700 c.370G>T c.(370-372)GAA>TAA p.E124* RGS7_uc010pyh.1_Nonsense_Mutation_p.E98*|RGS7_uc010pyj.1_Nonsense_Mutation_p.E40*|RGS7_uc001hyu.2_Nonsense_Mutation_p.E124*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.E124* NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 124 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTGTGTTTTCCGGCTCCCAA 0.383 NA 72 222 4.5e-31 7.02e-31 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159636 242159636 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:242159636G>A uc001hzk.2 - 4 348 c.273C>T c.(271-273)AAC>AAT p.N91N NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 91 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCAGGCTCTTGTTGTTCACCA 0.572 NA 41 127 0 0 0 0 PLD5 200150 broad.mit.edu 37 1 242511469 242511469 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:242511469C>A uc001hzn.1 - 2 392 c.265G>T c.(265-267)GTG>TTG p.V89L PLD5_uc001hzl.3_Missense_Mutation_p.V27L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_5'UTR Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 89 Helical; (Potential). integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATGATGTCCACGGCTGAAAAG 0.448 NA 35 128 6.97e-18 1.02e-17 1 0 CEP170 9859 broad.mit.edu 37 1 243349671 243349671 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:243349671T>A uc001hzs.2 - 9 1570 c.1162A>T c.(1162-1164)AGG>TGG p.R388W CEP170_uc001hzt.2_Missense_Mutation_p.R388W|CEP170_uc001hzu.2_Missense_Mutation_p.R388W NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 388 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTACAGCGCCTGTGAGCCCCA 0.438 NA 59 177 0 0 0 0 KIF26B 55083 broad.mit.edu 37 1 245850938 245850938 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:245850938C>G uc001ibf.1 + 12 5093 c.4653C>G c.(4651-4653)GAC>GAG p.D1551E KIF26B_uc001ibg.1_Missense_Mutation_p.D1169E|KIF26B_uc001ibh.1_Missense_Mutation_p.D793E NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1551 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGAGCCGGACAGCCTCTCCT 0.662 NA 3 7 0 0 0 0 OR2C3 81472 broad.mit.edu 37 1 247695329 247695329 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:247695329G>T uc009xgy.2 - 2 847 c.485C>A c.(484-486)ACG>AAG p.T162K C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CATGGTGAGCGTGGAGCCCAC 0.557 NA 4 24 1.02e-07 1.31e-07 1 0 OR2M5 127059 broad.mit.edu 37 1 248308673 248308673 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:248308673G>T uc010pze.1 + 1 224 c.224G>T c.(223-225)TGC>TTC p.C75F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 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;0.0388) ATGCTCATCTGCTCTACCGTA 0.488 NA 289 472 4.04e-157 6.46e-157 1 0 ITGA8 8516 broad.mit.edu 37 10 15649735 15649735 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:15649735G>T uc001ioc.1 - 17 1705 c.1705C>A c.(1705-1707)CCT>ACT p.P569T ITGA8_uc010qcb.1_Missense_Mutation_p.P554T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 569 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATCACAAGAGGGAAGACGCGA 0.448 NA 64 135 2.68e-24 4.09e-24 1 0 SLC39A12 221074 broad.mit.edu 37 10 18242223 18242223 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:18242223G>T uc001ipo.2 + 2 291 c.18G>T c.(16-18)AAG>AAT p.K6N SLC39A12_uc001ipn.2_Missense_Mutation_p.K6N|SLC39A12_uc001ipp.2_Missense_Mutation_p.K6N|SLC39A12_uc010qck.1_Intron NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 6 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCCGGACAAAGCTCTCAGTAT 0.493 NA 22 67 2.89e-11 3.97e-11 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32141445 32141445 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:32141445C>A uc001ivz.1 - 6 1440 c.1170G>T c.(1168-1170)AAG>AAT p.K390N ARHGAP12_uc001ivy.1_Missense_Mutation_p.K341N|ARHGAP12_uc009xls.2_Missense_Mutation_p.K341N|ARHGAP12_uc001iwb.1_Missense_Mutation_p.K388N|ARHGAP12_uc001iwc.1_Missense_Mutation_p.K388N|ARHGAP12_uc009xlq.1_Missense_Mutation_p.K341N|ARHGAP12_uc001iwd.1_Missense_Mutation_p.K388N|ARHGAP12_uc009xlr.1_Missense_Mutation_p.K388N NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 390 WW 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) GGTTTATTACCTTTGGCAATT 0.348 NA 44 80 5.24e-18 7.7e-18 1 0 ZNF37A 7587 broad.mit.edu 37 10 38406775 38406775 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:38406775A>G uc001izk.2 + 8 1515 c.696A>G c.(694-696)CCA>CCG p.P232P ZNF37A_uc001izl.2_Silent_p.P232P|ZNF37A_uc001izm.2_Silent_p.P232P NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 232 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 ATCTCACTCCAATTCAGAGAA 0.338 NA 10 45 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50954889 50954889 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:50954889A>C uc001jie.2 - 10 1345 c.1203T>G c.(1201-1203)TTT>TTG p.F401L OGDHL_uc009xog.2_Missense_Mutation_p.F428L|OGDHL_uc010qgt.1_Missense_Mutation_p.F344L|OGDHL_uc010qgu.1_Missense_Mutation_p.F192L|OGDHL_uc009xoh.2_Missense_Mutation_p.F192L NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 401 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 CCTGGCCAGCAAAGGCGGCGT 0.637 NA 10 34 0 0 0 0 RBP4 5950 broad.mit.edu 37 10 95360467 95360467 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:95360467C>A uc001kit.2 - 3 289 c.205G>T c.(205-207)GGC>TGC p.G69C NM_006744 NP_006735 P02753 RET4_HUMAN retinol-binding protein 4, plasma precursor 69 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding 0 Colorectal(252;0.122) Vitamin A(DB00162) CTCATCTGGCCGGTCTCGTCC 0.647 NA 9 10 5.49e-09 7.2e-09 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383495 118383495 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:118383495A>T uc001lcq.2 + 5 115 c.92A>T c.(91-93)GAT>GTT p.D31V PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 30 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TGCTTTTCTGATGAAAAACCA 0.463 NA 23 39 0 0 0 0 FAM196A 642938 broad.mit.edu 37 10 128974171 128974171 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:128974171G>C uc001lju.1 - 1 530 c.489C>G c.(487-489)GGC>GGG p.G163G DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.G163G|FAM196A_uc001ljv.1_Silent_p.G163G|FAM196A_uc009yap.1_Silent_p.G163G NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 163 ovary(2) 2 CCCGCCCCGCGCCACATGGCC 0.552 NA 22 53 0 0 0 0 FRG2B 441581 broad.mit.edu 37 10 135438781 135438781 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:135438781T>C uc010qvg.1 - 4 712 c.659A>G c.(658-660)CAG>CGG p.Q220R NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 220 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGTCTGCACCTGGGCACACAG 0.597 NA 10 21 0 0 0 0 SIGIRR 59307 broad.mit.edu 37 11 408879 408879 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:408879C>T uc001lpd.2 - 3 352 c.22G>A c.(22-24)GCC>ACC p.A8T SIGIRR_uc001lpf.2_Missense_Mutation_p.A8T|SIGIRR_uc001lpe.1_Missense_Mutation_p.A8T|SIGIRR_uc001lpg.2_Missense_Mutation_p.A8T NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 8 Extracellular (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGTCAGGGGCCCTATCACAG 0.617 NA 14 48 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1255445 1255445 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:1255445C>A uc009ycr.1 + 36 4491 c.4365C>A c.(4363-4365)GCC>GCA p.A1455A MUC5B_uc009yct.1_Silent_p.A796A|MUC5B_uc001ltb.2_Silent_p.A799A|MUC5B_uc001lta.2_Silent_p.A464A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 796 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTGTGCAGCCCCCATGGTGT 0.682 NA 3 6 0.00024832 0.00028114 1 0 MUC5B 727897 broad.mit.edu 37 11 1268010 1268010 + Silent SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:1268010A>C uc009ycr.1 + 49 11775 c.11649A>C c.(11647-11649)CCA>CCC p.P3883P MUC5B_uc001ltb.2_Silent_p.P3303P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3300 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCTCCACCCCAGGAACAGCTC 0.637 NA 3 64 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1269681 1269681 + Silent SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:1269681A>C uc009ycr.1 + 50 13281 c.13155A>C c.(13153-13155)CCA>CCC p.P4385P MUC5B_uc001ltb.2_Silent_p.P3860P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3857 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTTCCACCCCAGGAACAGCTC 0.647 NA 11 27 0 0 0 0 ZNF195 7748 broad.mit.edu 37 11 3381036 3381036 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:3381036T>C uc001lxt.2 - 6 1380 c.1202A>G c.(1201-1203)CAG>CGG p.Q401R uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.Q378R|ZNF195_uc001lxs.2_Missense_Mutation_p.Q329R|ZNF195_uc010qxr.1_Missense_Mutation_p.Q382R|ZNF195_uc009ydz.2_Missense_Mutation_p.Q356R|ZNF195_uc001lxu.2_Missense_Mutation_p.Q333R NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 401 Missing (in Ref. 2; BAD18466). 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) CTCATTTCTCTGGTGTTTGGA 0.408 NA 81 239 0 0 0 0 HBE1 3046 broad.mit.edu 37 11 5290723 5290723 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:5290723C>A uc001mal.1 - 2 529 c.276G>T c.(274-276)CTG>CTT p.L92L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L92L NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 92 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCACAGTGCAGCTCACTCA 0.458 NA 33 135 6.53e-20 9.76e-20 1 0 OR51M1 390059 broad.mit.edu 37 11 5411012 5411012 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:5411012C>T uc010qzc.1 + 1 384 c.384C>T c.(382-384)CTC>CTT p.L128L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 128 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTGCTCCTCATGATGTCCT 0.488 NA 82 307 0 0 0 0 OR56A4 120793 broad.mit.edu 37 11 6024019 6024019 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:6024019G>A uc010qzv.1 - 1 360 c.360C>T c.(358-360)CTC>CTT p.L120L NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 68 Helical; Name=2; (Potential). 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) GCAGGGAGAGGAGGCTGAGCA 0.607 NA 25 85 0 0 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789565 6789565 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:6789565C>A uc001meq.1 - 1 624 c.624G>T c.(622-624)TTG>TTT p.L208F NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAATGGGGAGCAAGAGGAAAG 0.502 NA 10 34 0.00829132 0.00880817 1 0 ANO5 203859 broad.mit.edu 37 11 22294481 22294481 + Silent SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:22294481A>T uc001mqi.2 + 19 2498 c.2181A>T c.(2179-2181)ATA>ATT p.I727I ANO5_uc001mqj.2_Silent_p.I726I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 727 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 CTCATAGCATAGGTGTTTGGC 0.403 NA 42 144 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30033431 30033431 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:30033431G>T uc001msk.2 - 2 1947 c.795C>A c.(793-795)GCC>GCA p.A265A NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 265 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACTTCAACAGGGCCTCCTCCC 0.488 NA 40 103 1.05e-18 1.54e-18 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136727 40136727 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:40136727C>A uc001mxa.1 - 2 3080 c.1116G>T c.(1114-1116)GAG>GAT p.E372D LRRC4C_uc001mxc.1_Missense_Mutation_p.E368D|LRRC4C_uc001mxd.1_Missense_Mutation_p.E368D|LRRC4C_uc001mxb.1_Missense_Mutation_p.E368D NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 372 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GACATTTCAGCTCAGCTGCCA 0.517 NA 28 60 2.82e-10 3.8e-10 1 0 ALX4 60529 broad.mit.edu 37 11 44296974 44296974 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:44296974T>A uc001myb.2 - 2 805 c.701A>T c.(700-702)CAG>CTG p.Q234L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 234 Homeobox. hair follicle development 0 GTGGGTCTTCTGGAAGACCTT 0.617 NA 89 220 0 0 0 0 OR4A5 81318 broad.mit.edu 37 11 51411677 51411678 + Missense_Mutation DNP CC CC AA rs5011055 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:51411677_51411678CC>AA uc001nhi.1 - 1 718_719 c.718_719GG>TT c.(718-720)GGC>TTC p.G240F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) AACGGTACTGCCGGAGCTGCAG 0.401 NA 5 65 0 0 0 0 OR5L1 219437 broad.mit.edu 37 11 55579236 55579237 + Missense_Mutation DNP GG GG TT TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55579236_55579237GG>TT uc001nhw.1 + 1 294_295 c.294_295GG>TT c.(292-297)ATGGTG>ATTTTG p.98_99MV>IL NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 98_99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCTA 0.45 NA 29 251 0 0 0 0 OR5D18 219438 broad.mit.edu 37 11 55587970 55587970 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55587970C>A uc010rin.1 + 1 865 c.865C>A c.(865-867)CTG>ATG p.L289M NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GTTGAATCCCCTGATCTACAG 0.458 NA 7 70 8.13e-05 9.38e-05 1 0 OR5L2 26338 broad.mit.edu 37 11 55594988 55594989 + Missense_Mutation DNP GG GG TT TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55594988_55594989GG>TT uc001nhy.1 + 1 294_295 c.294_295GG>TT c.(292-297)ATGGTG>ATTTTG p.98_99MV>IL NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 98_99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCTA 0.465 NA HNSCC(27;0.073) 21 129 0 0 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735898 55735898 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55735898G>A uc010rit.1 - 1 42 c.42C>T c.(40-42)CTC>CTT p.L14L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GCATCCAGTGGAGATTGGGAA 0.338 NA 4 75 0 0 0 0 OR8K3 219473 broad.mit.edu 37 11 56085893 56085893 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56085893C>A uc010rjf.1 + 1 111 c.111C>A c.(109-111)ATC>ATA p.I37I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TCTATGTGATCTCAGTGATGG 0.433 NA 65 119 5.09e-23 7.73e-23 1 0 OR5M3 219482 broad.mit.edu 37 11 56237592 56237592 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56237592G>T uc010rjk.1 - 1 382 c.382C>A c.(382-384)CTG>ATG p.L128M NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CCATAAAGCAGAGGATTCCCA 0.393 NA 35 114 6.34e-27 9.76e-27 1 0 OR5M8 219484 broad.mit.edu 37 11 56258070 56258070 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56258070G>A uc001nix.1 - 1 777 c.777C>T c.(775-777)CTC>CTT p.L259L NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) AGGGGGGTCTGAGATACATGA 0.413 NA 34 59 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431893 56431893 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56431893C>A uc010rjm.1 + 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCGGGTCTCACCTTACTGGCA 0.498 NA 40 92 1.3e-30 2.02e-30 1 0 OR9G4 283189 broad.mit.edu 37 11 56510975 56510975 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56510975T>C uc010rjo.1 - 1 313 c.313A>G c.(313-315)AAG>GAG p.K105E NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 105 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GAAATGCGCTTATCTTCTGAG 0.458 NA 6 125 0 0 0 0 OR4D10 390197 broad.mit.edu 37 11 59245402 59245402 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:59245402C>A uc001nnz.1 + 1 500 c.500C>A c.(499-501)CCT>CAT p.P167H NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CTCCCACTCCCTTTCTGCGGA 0.493 NA 7 145 5.18e-06 6.28e-06 1 0 TCN1 6947 broad.mit.edu 37 11 59622211 59622211 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:59622211T>C uc001noj.2 - 7 1133 c.1035A>G c.(1033-1035)ACA>ACG p.T345T NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 345 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGAAATATGTTTCATTGA 0.408 NA 9 145 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68830381 68830381 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:68830381C>A uc001oos.2 + 6 692 c.576C>A c.(574-576)CCC>CCA p.P192P TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Silent_p.P107P|TPCN2_uc010rqg.1_Silent_p.P192P NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 192 Helical; Name=S4 of repeat I; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTCTCCGTCCCTTCTTCCTGC 0.582 NA 56 162 6.75e-32 1.06e-31 1 0 PHOX2A 401 broad.mit.edu 37 11 71950813 71950813 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:71950813G>T uc001osh.3 - 3 1007 c.835C>A c.(835-837)CTG>ATG p.L279M NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 279 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTGGTCTTCAGGGCGGGGCCG 0.692 NA 4 4 0.000602214 0.000669173 1 0 C2CD3 26005 broad.mit.edu 37 11 73753213 73753213 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:73753213T>A uc001ouu.2 - 29 5773 c.5546A>T c.(5545-5547)AAC>ATC p.N1849I C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1849 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CCGGCGAATGTTCTGCACATG 0.433 NA 39 56 0 0 0 0 TMEM135 65084 broad.mit.edu 37 11 87013387 87013387 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:87013387G>A uc001pch.2 + 8 624 c.601G>A c.(601-603)GCA>ACA p.A201T TMEM135_uc010rtt.1_Missense_Mutation_p.A62T|TMEM135_uc001pci.2_Missense_Mutation_p.A179T NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 201 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTCACCAGAGGCAGCATATGC 0.378 NA 25 57 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 99827584 99827584 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:99827584G>T uc001pga.2 + 8 1059 c.720G>T c.(718-720)GCG>GCT p.A240A CNTN5_uc009ywv.1_Silent_p.A240A|CNTN5_uc001pfz.2_Silent_p.A240A|CNTN5_uc001pgb.2_Silent_p.A166A NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 240 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTTTGTGGCGGAAGACAGCC 0.393 NA 17 50 4.97e-08 6.38e-08 1 0 MMP10 4319 broad.mit.edu 37 11 102646043 102646043 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:102646043C>T uc001phg.1 - 7 964 c.942G>A c.(940-942)TGG>TGA p.W314* NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 314 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GGGATCTTCGCCAAAAATATC 0.328 NA 4 57 0 0 0 0 CASP5 838 broad.mit.edu 37 11 104869720 104869720 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:104869720C>T uc010rva.1 - 7 1020 c.988G>A c.(988-990)GCA>ACA p.A330T CASP5_uc010ruz.1_Missense_Mutation_p.A343T|CASP5_uc010rvb.1_Missense_Mutation_p.A272T|CASP5_uc010rvc.1_Missense_Mutation_p.A188T|CASP5_uc009yxh.2_Missense_Mutation_p.A112T|CASP5_uc010rvd.1_Missense_Mutation_p.A112T NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 330 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GCCAAGGATGCTGGAGAGTCT 0.358 NA 26 59 0 0 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105967590 105967590 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:105967590T>C uc001pjc.1 + 6 1032 c.886T>C c.(886-888)TGC>CGC p.C296R AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Missense_Mutation_p.C149R NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde 296 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding 0 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) GGACTGTTTTTGCTTCACAGA 0.378 NA 11 48 0 0 0 0 OR10G8 219869 broad.mit.edu 37 11 123900787 123900787 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:123900787T>A uc001pzp.1 + 1 458 c.458T>A c.(457-459)CTG>CAG p.L153Q NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0521) AGTGGCTCTCTGCACTCTGCT 0.552 NA 51 115 0 0 0 0 VSIG2 23584 broad.mit.edu 37 11 124617497 124617497 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:124617497G>A uc001qas.2 - 7 994 c.918C>T c.(916-918)TTC>TTT p.F306F NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 306 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTCTTTCCAGGAACCCCTTGC 0.562 NA 6 66 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124761626 124761626 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:124761626G>C uc001qbg.2 - 11 1760 c.1620C>G c.(1618-1620)AGC>AGG p.S540R ROBO4_uc010sas.1_Missense_Mutation_p.S395R|ROBO4_uc001qbh.2_Missense_Mutation_p.S430R|ROBO4_uc001qbi.2_Missense_Mutation_p.S98R|ROBO4_uc010sat.1_Missense_Mutation_p.S98R NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 540 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGCTGCTGCTGCTGCTCAGGT 0.662 NA 12 20 0 0 0 0 FGF23 8074 broad.mit.edu 37 12 4479648 4479648 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:4479648C>A uc001qmq.1 - 3 763 c.617G>T c.(616-618)TGT>TTT p.C206F NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 206 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CTCCTGTGAACAGGAGGCCGG 0.706 NA 14 33 0.000308642 0.000347249 1 0 TAS2R50 259296 broad.mit.edu 37 12 11139067 11139067 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:11139067C>T uc001qzl.2 - 1 445 c.393G>A c.(391-393)GTG>GTA p.V131V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 131 Helical; Name=4; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 CCAACAGTATCACCAGAATGA 0.388 NA 80 256 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717318 13717318 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:13717318G>T uc001rbt.2 - 13 3033 c.2854C>A c.(2854-2856)CCG>ACG p.P952T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 952 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACAGGGCGGGTTGTTGTAG 0.542 NA 40 94 8.17e-11 1.11e-10 1 0 PTPRO 5800 broad.mit.edu 37 12 15475702 15475702 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:15475702C>A uc001rcv.1 + 1 216 c.42C>A c.(40-42)CTC>CTA p.L14L PTPRO_uc001rcw.1_Silent_p.L14L|PTPRO_uc001rcu.1_Silent_p.L14L NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 14 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) CCCGCCGCCTCCTGCCTCTGC 0.741 NA 10 21 1.15e-07 1.46e-07 1 0 GYS2 2998 broad.mit.edu 37 12 21721901 21721901 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:21721901G>C uc001rfb.2 - 5 976 c.721C>G c.(721-723)CGG>GGG p.R241G NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 241 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 ATGCAGTACCGGTGGTAAATC 0.433 NA 24 112 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 22013989 22013989 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:22013989C>T uc001rfi.1 - 19 2360 c.2340G>A c.(2338-2340)AGG>AGA p.R780R ABCC9_uc001rfh.2_Silent_p.R780R|ABCC9_uc001rfj.1_Silent_p.R744R NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 780 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGCTTTGTACCTTTGGGAGA 0.323 NA 23 99 0 0 0 0 KIAA0528 9847 broad.mit.edu 37 12 22676469 22676469 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:22676469C>A uc001rfq.2 - 7 919 c.691G>T c.(691-693)GAG>TAG p.E231* KIAA0528_uc010sir.1_Nonsense_Mutation_p.E33*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.E231*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.E231*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.E231* NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 231 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 AACCCAGACTCGCCCTCCAGA 0.473 NA 16 49 2.32e-05 2.73e-05 1 0 BICD1 636 broad.mit.edu 37 12 32480467 32480467 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:32480467G>T uc001rku.2 + 5 1159 c.1078G>T c.(1078-1080)GCA>TCA p.A360S BICD1_uc001rkv.2_Missense_Mutation_p.A360S|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 360 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CACCAAGGGGGCACTGACGGA 0.562 NA 28 58 1.16e-09 1.55e-09 1 0 MFSD5 84975 broad.mit.edu 37 12 53647566 53647566 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:53647566C>T uc001sci.1 + 2 1138 c.947C>T c.(946-948)TCC>TTC p.S316F MFSD5_uc001sch.1_Missense_Mutation_p.S423F NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 316 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 CACCTGCTGTCCCTTGCTGTG 0.542 NA 42 105 0 0 0 0 OR9K2 441639 broad.mit.edu 37 12 55523823 55523823 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:55523823C>A uc010spe.1 + 1 271 c.271C>A c.(271-273)CTC>ATC p.L91I NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 91 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CCTAGGCAATCTCTCCTTCAT 0.408 NA 68 278 2.7e-31 4.21e-31 1 0 OR6C76 390326 broad.mit.edu 37 12 55820376 55820376 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:55820376C>T uc010spm.1 + 1 339 c.339C>T c.(337-339)GCC>GCT p.A113A NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTCCTGGCCTCTATGTCCT 0.413 NA 86 263 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57572180 57572180 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:57572180G>A uc001snd.2 + 27 4866 c.4400G>A c.(4399-4401)GGC>GAC p.G1467D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1467 Extracellular (Potential).|LDL-receptor class B 11. 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) GACGGCTCTGGCCACATGGAG 0.582 NA 16 54 0 0 0 0 AGAP2 116986 broad.mit.edu 37 12 58125675 58125676 + Silent DNP GG GG TT TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:58125675_58125676GG>TT uc001spq.2 - 8 1869_1870 c.1869_1870CC>AA c.(1867-1872)CTCCGA>CTAAGA p.623_624LR>LR AGAP2_uc001spp.2_Silent_p.623_624LR>LR|AGAP2_uc001spr.2_Silent_p.287_288LR>LR NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 623_624 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 GCCTCGGCTCGGAGCTCCCGGT 0.609 NA 4 14 0 0 0 0 BEST3 144453 broad.mit.edu 37 12 70049538 70049538 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:70049538C>A uc001svg.2 - 10 1383 c.1156G>T c.(1156-1158)GGC>TGC p.G386C BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.G173C|BEST3_uc010stm.1_Missense_Mutation_p.G280C NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 386 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGCCGATGGCCATGCTTCTCA 0.547 NA 35 117 2.76e-19 4.09e-19 1 0 TRHDE 29953 broad.mit.edu 37 12 72866900 72866900 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:72866900A>T uc001sxa.2 + 5 1419 c.1389A>T c.(1387-1389)GAA>GAT p.E463D NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 463 Extracellular (Potential). Zinc; catalytic (By similarity). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGCTGAAGGAAGGGTTTGCTC 0.408 NA 41 151 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72956721 72956721 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:72956721T>C uc001sxa.2 + 9 1838 c.1808T>C c.(1807-1809)TTG>TCG p.L603S NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 603 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ATCACCATCTTGGGAAACACA 0.338 NA 60 168 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78444555 78444555 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78444555C>A uc001syp.2 + 11 2317 c.2144C>A c.(2143-2145)ACA>AAA p.T715K NAV3_uc001syo.2_Missense_Mutation_p.T715K|NAV3_uc010sub.1_Missense_Mutation_p.T215K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 715 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACCCTGGAGACAACATTTGAC 0.463 NA HNSCC(70;0.22) 23 96 4.78e-09 6.27e-09 1 0 NAV3 89795 broad.mit.edu 37 12 78444857 78444857 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78444857G>C uc001syp.2 + 11 2619 c.2446G>C c.(2446-2448)GAT>CAT p.D816H NAV3_uc001syo.2_Missense_Mutation_p.D816H|NAV3_uc010sub.1_Missense_Mutation_p.D316H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 816 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTCTGAGGTCGATGTGGGTGG 0.493 NA HNSCC(70;0.22) 12 56 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78511909 78511909 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78511909G>T uc001syp.2 + 14 3045 c.2872G>T c.(2872-2874)GGT>TGT p.G958C NAV3_uc001syo.2_Missense_Mutation_p.G958C|NAV3_uc010sub.1_Missense_Mutation_p.G458C|NAV3_uc009zsf.2_5'UTR NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 958 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGGGGATGCTGGTGGCAAGTG 0.522 NA HNSCC(70;0.22) 35 138 2.41e-17 3.52e-17 1 0 NAV3 89795 broad.mit.edu 37 12 78562633 78562633 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78562633C>A uc001syp.2 + 24 5141 c.4968C>A c.(4966-4968)GAC>GAA p.D1656E NAV3_uc001syo.2_Missense_Mutation_p.D1656E|NAV3_uc010sub.1_Missense_Mutation_p.D1142E|NAV3_uc009zsf.2_Missense_Mutation_p.D487E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1656 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ATGGTCCAGACCATCCTCCCA 0.378 NA HNSCC(70;0.22) 27 109 6.33e-13 8.87e-13 1 0 GAS2L3 283431 broad.mit.edu 37 12 101012273 101012273 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:101012273G>C uc001thu.2 + 8 782 c.556G>C c.(556-558)GAG>CAG p.E186Q GAS2L3_uc009zty.2_Missense_Mutation_p.E186Q|GAS2L3_uc001thv.2_Missense_Mutation_p.E82Q NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 186 cell cycle arrest skin(1) 1 GAAAGAAATTGAGTTAGAAGA 0.423 NA 26 74 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104044339 104044339 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:104044339G>T uc001tjw.2 + 11 1426 c.1240G>T c.(1240-1242)GGA>TGA p.G414* NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 414 Extracellular (Potential).|FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TACAGACAAGGGACTGAAAGG 0.423 NA 9 31 2.74e-10 3.7e-10 1 0 POLR3B 55703 broad.mit.edu 37 12 106786921 106786921 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:106786921C>T uc001tlp.2 + 10 1058 c.836C>T c.(835-837)ACA>ATA p.T279I POLR3B_uc001tlq.2_Missense_Mutation_p.T221I NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 279 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CAGATTTTCACACAGATGCAG 0.458 NA 73 188 0 0 0 0 NAA25 80018 broad.mit.edu 37 12 112491432 112491432 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:112491432A>G uc001ttm.2 - 15 1678 c.1658T>C c.(1657-1659)CTA>CCA p.L553P NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.L525P|NAA25_uc009zwa.1_Missense_Mutation_p.L553P NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 553 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 ATACTGACCTAGAGATTCAGC 0.358 NA 9 32 0 0 0 0 TBX5 6910 broad.mit.edu 37 12 114793739 114793739 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:114793739G>T uc001tvo.2 - 9 1650 c.1155C>A c.(1153-1155)CCC>CCA p.P385P TBX5_uc001tvp.2_Silent_p.P385P|TBX5_uc001tvq.2_Silent_p.P335P NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 385 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GCTCGCTGGGGGGCGCAGAGC 0.632 NA 10 86 7.48e-07 9.26e-07 1 0 DHX37 57647 broad.mit.edu 37 12 125470763 125470763 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:125470763G>A uc001ugy.2 - 2 254 c.155C>T c.(154-156)CCG>CTG p.P52L NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 52 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CTTCTTCCCCGGTAGAACGAG 0.493 NA 50 129 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131620641 131620641 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:131620641G>A uc001uit.3 + 22 2886 c.2327G>A c.(2326-2328)GGC>GAC p.G776D GPR133_uc010tbm.1_Missense_Mutation_p.G808D|GPR133_uc009zyo.2_Missense_Mutation_p.G58D|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 776 Helical; Name=6; (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) TGGGTCTTTGGCGTGCTTGCT 0.617 NA 10 48 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131621519 131621519 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:131621519G>T uc001uit.3 + 23 2955 c.2396G>T c.(2395-2397)GGA>GTA p.G799V GPR133_uc010tbm.1_Missense_Mutation_p.G831V|GPR133_uc009zyo.2_Missense_Mutation_p.G81V|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 799 Helical; Name=7; (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) TCTTCCCAGGGACTGTTCATA 0.532 NA 19 85 1.85e-09 2.46e-09 1 0 POLE 5426 broad.mit.edu 37 12 133241050 133241050 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:133241050T>A uc001uks.1 - 22 2513 c.2469_splice c.e22-1 p.G823_splice POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.G796_splice NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGCGAGCCCTGAGAGGACAC 0.602 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 16 37 0 0 0 0 RB1 5925 broad.mit.edu 37 13 49033970 49033970 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:49033970G>T uc001vcb.2 + 20 2272 c.2106_splice c.e20+1 p.Q702_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTGGACCAAGTAAGAAAATC 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 27 7.48e-07 9.26e-07 1 0 MYCBP2 23077 broad.mit.edu 37 13 77633756 77633756 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:77633756G>C uc001vkf.2 - 78 13019 c.12928C>G c.(12928-12930)CCC>GCC p.P4310A MYCBP2_uc010aev.2_Missense_Mutation_p.P3714A|MYCBP2_uc001vke.2_Missense_Mutation_p.P927A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTCGTGGTGGGTTTGCCTAGG 0.393 NA 27 69 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92345593 92345593 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:92345593G>A uc010tif.1 + 3 844 c.478G>A c.(478-480)GAA>AAA p.E160K NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 160 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTAATCCTGAAGAATTTGT 0.448 NA 45 99 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109472729 109472729 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:109472729C>A uc001vqt.1 + 8 972 c.846C>A c.(844-846)CAC>CAA p.H282Q MYO16_uc010agk.1_Missense_Mutation_p.H304Q|MYO16_uc001vqu.1_Missense_Mutation_p.H82Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 282 ANK 7. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAAACCCACACCTCGTGAACT 0.438 NA 4 18 0.000602214 0.000669173 1 0 OR5AU1 390445 broad.mit.edu 37 14 21623117 21623117 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:21623117C>A uc010tlp.1 - 1 1068 c.1068G>T c.(1066-1068)TGG>TGT p.W356C NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 356 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TTTTCCTACCCCAAACCTTTA 0.428 NA 15 95 4.75e-09 6.24e-09 1 0 CHD8 57680 broad.mit.edu 37 14 21859702 21859702 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:21859702C>T uc001was.1 - 36 6242 c.6148G>A c.(6148-6150)GAG>AAG p.E2050K CHD8_uc001war.1_Missense_Mutation_p.E1946K NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2329 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GGGGCATCCTCACCCACCAGC 0.557 NA 13 35 0 0 0 0 PNN 5411 broad.mit.edu 37 14 39644596 39644596 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:39644596G>T uc001wuw.3 + 1 210 c.113G>T c.(112-114)AGG>ATG p.R38M NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 38 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AATGACGTGAGGTAAGGGCCT 0.582 NA 6 19 3.6e-05 4.22e-05 1 0 LRFN5 145581 broad.mit.edu 37 14 42356187 42356187 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:42356187G>A uc001wvm.2 + 3 1557 c.359G>A c.(358-360)AGT>AAT p.S120N LRFN5_uc010ana.2_Missense_Mutation_p.S120N NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 120 Extracellular (Potential).|LRR 3. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATATGTTCAGTGGTCTTTCC 0.373 NA HNSCC(30;0.082) 27 106 0 0 0 0 GNG2 54331 broad.mit.edu 37 14 52433376 52433376 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:52433376G>T uc001wzi.2 + 4 716 c.187G>T c.(187-189)GAG>TAG p.E63* GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Nonsense_Mutation_p.E63* NM_053064 NP_444292 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), 63 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity 0 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) CCCGTTTAGGGAGAAGAAGTT 0.522 NA 56 178 6.61e-23 1e-22 1 0 NID2 22795 broad.mit.edu 37 14 52520339 52520339 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:52520339A>G uc001wzo.2 - 5 1621 c.1387T>C c.(1387-1389)TAT>CAT p.Y463H NID2_uc010tqs.1_Missense_Mutation_p.Y463H|NID2_uc010tqt.1_Missense_Mutation_p.Y463H|NID2_uc001wzp.2_Missense_Mutation_p.Y463H NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 463 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CCCACCTCATACGTCCCTCGA 0.478 NA 51 155 0 0 0 0 DDHD1 80821 broad.mit.edu 37 14 53518577 53518577 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:53518577T>C uc001xai.2 - 12 2736 c.2506A>G c.(2506-2508)AAA>GAA p.K836E DDHD1_uc001xaj.2_Intron|DDHD1_uc001xah.2_Intron|DDHD1_uc001xag.2_Intron NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 836 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) GCATTATCTTTATTCTGCATT 0.333 NA 2 14 0 0 0 0 KIAA0586 9786 broad.mit.edu 37 14 58927843 58927843 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:58927843G>T uc001xdv.3 + 13 2069 c.1796G>T c.(1795-1797)AGA>ATA p.R599I KIAA0586_uc010trr.1_Missense_Mutation_p.R716I|KIAA0586_uc001xdt.3_Missense_Mutation_p.R631I|KIAA0586_uc001xdu.3_Missense_Mutation_p.R660I|KIAA0586_uc010trs.1_Missense_Mutation_p.R590I|KIAA0586_uc010trt.1_Missense_Mutation_p.R535I|KIAA0586_uc010tru.1_Missense_Mutation_p.R535I NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 599 ovary(1) 1 CCTAAGTCCAGACCACAGAGA 0.328 NA 5 16 1.24e-05 1.48e-05 1 0 DACT1 51339 broad.mit.edu 37 14 59112685 59112685 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:59112685G>C uc001xdw.2 + 4 1508 c.1344G>C c.(1342-1344)CAG>CAC p.Q448H DACT1_uc010trv.1_Missense_Mutation_p.Q167H|DACT1_uc001xdx.2_Missense_Mutation_p.Q411H|DACT1_uc010trw.1_Missense_Mutation_p.Q167H NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 448 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CCGACCTTCAGAGTAAGCACC 0.602 NA 15 43 0 0 0 0 RGS6 9628 broad.mit.edu 37 14 72961932 72961932 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:72961932G>T uc001xna.3 + 13 1450 c.927G>T c.(925-927)TGG>TGT p.W309C RGS6_uc010ttn.1_Missense_Mutation_p.W309C|RGS6_uc001xmx.3_Missense_Mutation_p.W309C|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W309C|RGS6_uc010ttp.1_Missense_Mutation_p.W240C|RGS6_uc001xmz.1_Missense_Mutation_p.W170C NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 309 G protein gamma. W->F: Diminishes interaction with Gbeta5. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCAACCCTTGGATCAGCGATG 0.433 NA 81 201 2.62e-37 4.13e-37 1 0 NRXN3 9369 broad.mit.edu 37 14 79175791 79175791 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:79175791C>A uc001xun.2 + 4 825 c.334C>A c.(334-336)CTC>ATC p.L112I NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.L246I NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 485 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGCCTGATCCTCTTCACTCA 0.517 NA 54 127 1.88e-15 2.7e-15 1 0 RCOR1 23186 broad.mit.edu 37 14 103188649 103188649 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:103188649G>A uc001ymb.2 + 11 1306 c.1306G>A c.(1306-1308)GAA>AAA p.E436K NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 436 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 AGTTTTACAAGAATGGGAGGC 0.428 NA 47 135 0 0 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103418843 103418843 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:103418843G>C uc001ymi.1 - 24 3396 c.3164C>G c.(3163-3165)GCC>GGC p.A1055G CDC42BPB_uc001ymj.1_Missense_Mutation_p.A157G NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1055 Phorbol-ester/DAG-type. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACCCTCGCAGGCGTAGCCCTG 0.637 NA 3 27 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921750 24921750 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:24921750G>C uc001ywo.2 + 1 1210 c.736G>C c.(736-738)GCC>CCC p.A246P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 246 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACACAGCCAGGCCGGATGTGC 0.622 NA 16 45 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922585 24922585 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:24922585C>G uc001ywo.2 + 1 2045 c.1571C>G c.(1570-1572)CCT>CGT p.P524R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 524 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GTGGATTCCCCTCCTCCTCTT 0.547 NA 71 281 0 0 0 0 GABRB3 2562 broad.mit.edu 37 15 26793136 26793136 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:26793136C>A uc001zaz.2 - 9 1368 c.1226G>T c.(1225-1227)CGA>CTA p.R409L GABRB3_uc010uae.1_Missense_Mutation_p.R324L|GABRB3_uc001zba.2_Missense_Mutation_p.R409L|GABRB3_uc001zbb.2_Missense_Mutation_p.R465L NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 409 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGCCCTTCTCGAGGCATGCT 0.488 NA 33 93 5.92e-21 8.89e-21 1 0 HERC2 8924 broad.mit.edu 37 15 28388011 28388011 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:28388011T>A uc001zbj.2 - 75 11612 c.11506A>T c.(11506-11508)AGG>TGG p.R3836W NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3836 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTGCCACCCCTCACAATAGGA 0.408 NA 5 17 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48714173 48714173 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:48714173T>A uc001zwx.1 - 61 7874 c.7546A>T c.(7546-7548)ACC>TCC p.T2516S FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2516 EGF-like 43; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGGTGTTGGGTAAATCCGGGA 0.433 NA 14 47 0 0 0 0 CCPG1 9236 broad.mit.edu 37 15 55669217 55669217 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:55669217T>C uc002acv.1 - 5 549 c.384A>G c.(382-384)GCA>GCG p.A128A CCPG1_uc002acy.2_Silent_p.A128A|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Silent_p.A128A|CCPG1_uc010bfk.1_Silent_p.A128A|CCPG1_uc002acz.1_Silent_p.A128A NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 128 Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) CTGAACTCTGTGCTTCTTCAA 0.388 NA 43 108 0 0 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58287338 58287338 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:58287338C>A uc002aex.2 - 5 552 c.494_splice c.e5-1 p.D165_splice ALDH1A2_uc002aey.2_Splice_Site_p.D165_splice|ALDH1A2_uc010ugv.1_Splice_Site_p.D144_splice|ALDH1A2_uc010ugw.1_Splice_Site_p.D136_splice|ALDH1A2_uc002aew.2_Splice_Site_p.D69_splice NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TAGTCTCCATCTGAAAGAAAA 0.353 NA 37 108 8.74e-17 1.27e-16 1 0 SLTM 79811 broad.mit.edu 37 15 59182658 59182658 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:59182658C>T uc002afp.2 - 15 1989 c.1901G>A c.(1900-1902)CGA>CAA p.R634Q SLTM_uc002afn.2_Missense_Mutation_p.R176Q|SLTM_uc002afo.2_Missense_Mutation_p.R616Q|SLTM_uc002afq.2_Missense_Mutation_p.R203Q|SLTM_uc010bgd.2_Missense_Mutation_p.R203Q NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 634 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 AATCTCTCTTCGTCTACCAAA 0.403 NA 34 128 0 0 0 0 ZNF609 23060 broad.mit.edu 37 15 64967929 64967929 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:64967929C>T uc002ann.2 + 4 2876 c.2876C>T c.(2875-2877)TCG>TTG p.S959L NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 959 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CAGCAGCCCTCGGTCATCCAG 0.507 NA 53 146 0 0 0 0 MAP2K5 5607 broad.mit.edu 37 15 67873100 67873100 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:67873100C>T uc002aqu.2 + 4 914 c.261C>T c.(259-261)TCC>TCT p.S87S MAP2K5_uc002aqt.1_Silent_p.S87S|MAP2K5_uc002aqv.2_Silent_p.S87S|MAP2K5_uc010ujw.1_Silent_p.S51S NM_145160 NP_660143 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 87 OPR. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2) 2 AGTATTATTCCACAGTAATGG 0.328 NA 41 136 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73659940 73659940 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:73659940G>A uc002avp.2 - 1 1666 c.672C>T c.(670-672)CCC>CCT p.P224P NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 224 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) TGTTGACCCCGGGTTGGAGCA 0.652 NA 15 53 0 0 0 0 ACSBG1 23205 broad.mit.edu 37 15 78466037 78466037 + Missense_Mutation SNP C C G rs137988972 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:78466037C>G uc002bdh.2 - 13 2043 c.1987G>C c.(1987-1989)GAG>CAG p.E663Q ACSBG1_uc010umw.1_Missense_Mutation_p.E659Q|ACSBG1_uc010umx.1_Missense_Mutation_p.E421Q NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 663 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CGGATCCCCTCTTCGATGGCC 0.577 NA 3 77 0 0 0 0 IREB2 3658 broad.mit.edu 37 15 78780136 78780136 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:78780136G>T uc002bdr.2 + 14 1933 c.1771G>T c.(1771-1773)GCA>TCA p.A591S IREB2_uc010unb.1_Missense_Mutation_p.A341S NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 591 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) CTTATCAGACGCAGTTTTAAA 0.313 NA 16 86 4.97e-08 6.38e-08 1 0 AGBL1 123624 broad.mit.edu 37 15 87089303 87089303 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:87089303C>G uc002blz.1 + 19 2698 c.2618C>G c.(2617-2619)ACC>AGC p.T873S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 873 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ATCAAGGAAACCTTGTGGCAA 0.463 NA 7 32 0 0 0 0 IGF1R 3480 broad.mit.edu 37 15 99456390 99456391 + Missense_Mutation DNP TG TG AT TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:99456390_99456391TG>AT uc002bul.2 + 8 1757_1758 c.1707_1708TG>AT c.(1705-1710)CATGGG>CAATGG p.569_570HG>QW IGF1R_uc010urq.1_Missense_Mutation_p.569_570HG>QW|IGF1R_uc010bon.2_Missense_Mutation_p.569_570HG>QW|IGF1R_uc010urr.1_Missense_Mutation_p.19_20HG>QW NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 569_570 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TCTTACTACATGGGCTGAAGCC 0.579 NA 28 65 0 0 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269708 100269708 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:100269708T>A uc002bvk.2 - 3 574 c.511A>T c.(511-513)AAG>TAG p.K171* LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Nonsense_Mutation_p.K172*|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Nonsense_Mutation_p.K171* Q5XG99 LYSM4_HUMAN SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c; 171 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) TCAATCCCCTTAAAGAAGCCC 0.582 NA 40 103 0 0 0 0 RHOT2 89941 broad.mit.edu 37 16 720765 720765 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:720765G>C uc002cip.2 + 9 698 c.631G>C c.(631-633)GCT>CCT p.A211P RHOT2_uc002ciq.2_Missense_Mutation_p.A104P|RHOT2_uc010bqy.2_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 211 EF-hand 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) AGAGCTCAACGCTTTCCAGGT 0.662 NA 19 39 0 0 0 0 NLRC3 197358 broad.mit.edu 37 16 3614575 3614575 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:3614575G>T uc010btn.2 - 5 774 c.363C>A c.(361-363)ACC>ACA p.T121T NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 121 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CCAGGGCGACGGTCCTGGCGG 0.706 NA 12 25 1.05e-09 1.41e-09 1 0 LITAF 9516 broad.mit.edu 37 16 11650502 11650502 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:11650502C>A uc002daz.2 - 2 318 c.85G>T c.(85-87)GTT>TTT p.V29F LITAF_uc002dba.2_Missense_Mutation_p.V29F|LITAF_uc002dbb.2_Missense_Mutation_p.V29F|LITAF_uc002dbc.2_Missense_Mutation_p.V29F|LITAF_uc002dbd.2_Missense_Mutation_p.V29F|LITAF_uc002dbe.3_Missense_Mutation_p.V29F NM_004862 NP_004853 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF-alpha factor 29 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding liver(1) 1 TAACTGTTAACAGCCACTGTC 0.547 NA 27 56 3.8e-20 5.69e-20 1 0 CP110 9738 broad.mit.edu 37 16 19557743 19557743 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:19557743A>C uc002dgl.3 + 12 3034 c.2787A>C c.(2785-2787)GAA>GAC p.E929D CP110_uc002dgk.3_Missense_Mutation_p.E929D O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 929 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 GAGCTGCTGAAATGGGAATGC 0.303 NA 18 44 0 0 0 0 PDILT 204474 broad.mit.edu 37 16 20410587 20410587 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20410587G>T uc002dhc.1 - 2 259 c.36C>A c.(34-36)GCC>GCA p.A12A NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 12 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AGACACAAGCGGCCACCAGCA 0.592 NA 15 103 5.01e-05 5.85e-05 1 0 ACSM2B 348158 broad.mit.edu 37 16 20570737 20570737 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20570737C>A uc002dhj.3 - 4 420 c.210G>T c.(208-210)TGG>TGT p.W70C ACSM2B_uc002dhk.3_Missense_Mutation_p.W70C|ACSM2B_uc010bwf.1_Missense_Mutation_p.W70C NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 70 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CATTCACCCACCACAGGGCTG 0.532 NA 8 27 3.86e-05 4.51e-05 1 0 LOC81691 81691 broad.mit.edu 37 16 20824541 20824541 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20824541T>C uc002dhv.2 + 3 431 c.168T>C c.(166-168)ACT>ACC p.T56T ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Silent_p.T56T|LOC81691_uc002dhw.2_5'UTR|LOC81691_uc002dhy.3_Silent_p.T56T NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 56 nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 TTTTATTTACTGACAACTGTG 0.383 NA 23 58 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 21038393 21038393 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:21038393G>A uc010vbe.1 - 38 5496 c.5496C>T c.(5494-5496)TTC>TTT p.F1832F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1832 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CGGCGGGCTCGAAGATCAGGC 0.572 NA 10 40 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 21117970 21117970 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:21117970C>T uc010vbe.1 - 15 2125 c.2125G>A c.(2125-2127)GCA>ACA p.A709T DNAH3_uc002die.2_Missense_Mutation_p.A649T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 709 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACTTTGTCTGCGATGTGGCTG 0.353 NA 17 75 0 0 0 0 RBBP6 5930 broad.mit.edu 37 16 24581745 24581745 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:24581745A>C uc002dmh.2 + 17 4774 c.3734A>C c.(3733-3735)GAA>GCA p.E1245A RBBP6_uc010vcb.1_Missense_Mutation_p.E1112A|RBBP6_uc002dmi.2_Missense_Mutation_p.E1211A|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.E1078A NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1245 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GTTAAACAAGAAAAAGTCAAA 0.408 NA 16 56 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556684 27556684 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:27556684T>C uc002dov.1 - 2 422 c.382A>G c.(382-384)AGA>GGA p.R128G GTF3C1_uc002dou.2_Missense_Mutation_p.R128G NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 128 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GACTTGGTTCTGATGTCATTG 0.418 NA 66 179 0 0 0 0 ZNF668 79759 broad.mit.edu 37 16 31072937 31072937 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:31072937C>A uc010caf.2 - 3 1669 c.1312G>T c.(1312-1314)GTG>TTG p.V438L ZNF668_uc002eao.2_Missense_Mutation_p.V438L NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 TCACCTGCCACGCCCACAGGC 0.716 NA 26 88 4.03e-09 5.31e-09 1 0 IRX5 10265 broad.mit.edu 37 16 54965210 54965210 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:54965210G>A uc002ehv.2 + 1 100 c.100G>A c.(100-102)GAT>AAT p.D34N uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.D34N|IRX5_uc002ehw.2_5'Flank NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 34 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 GCCCCGCACGGATGAGCTCGG 0.672 NA 11 22 0 0 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184450 69184450 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:69184450G>T uc002ews.3 + 7 845 c.749G>T c.(748-750)AGT>ATT p.S250I CIRH1A_uc002ewr.2_Missense_Mutation_p.S250I|CIRH1A_uc002ewt.3_Missense_Mutation_p.S167I|CIRH1A_uc010cfi.2_Missense_Mutation_p.S167I|CIRH1A_uc010cfj.1_Missense_Mutation_p.S69I NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 250 WD 6. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) CAAGAAGACAGTTTCGTGGTG 0.488 NA OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 152 0.00909568 0.00953133 1 0 NFAT5 10725 broad.mit.edu 37 16 69726060 69726060 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:69726060A>G uc002exm.1 + 12 3486 c.2278A>G c.(2278-2280)AAT>GAT p.N760D NFAT5_uc002exi.2_Missense_Mutation_p.N684D|NFAT5_uc002exj.1_Missense_Mutation_p.N684D|NFAT5_uc002exk.1_Missense_Mutation_p.N684D|NFAT5_uc002exl.1_Missense_Mutation_p.N778D|NFAT5_uc002exn.1_Missense_Mutation_p.N777D|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 760 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GATTTCATCAAATATTTTTCC 0.443 NA 4 65 0 0 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131825 82131825 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:82131825G>A uc002fgv.2 + 5 1120 c.948G>A c.(946-948)AAG>AAA p.K316K NM_002153 NP_002144 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 316 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 NADH(DB00157) TAGCCAGCAAGGACTTCTCTC 0.542 NA 39 73 0 0 0 0 TEKT1 83659 broad.mit.edu 37 17 6718618 6718618 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:6718618G>T uc002gdt.2 - 5 603 c.493C>A c.(493-495)CGC>AGC p.R165S TEKT1_uc010vth.1_Missense_Mutation_p.R19S NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 165 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) TTGGCAGAGCGGTTCATCCTG 0.498 NA 34 72 8.42e-14 1.19e-13 1 0 SLC2A4 6517 broad.mit.edu 37 17 7188426 7188426 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:7188426C>A uc002gfp.2 + 9 1240 c.1040C>A c.(1039-1041)GCG>GAG p.A347E SLC2A4_uc002gfo.2_Missense_Mutation_p.A347E|SLC2A4_uc010cmd.2_RNA NM_001042 NP_001033 P14672 GTR4_HUMAN glucose transporter 4 347 Cytoplasmic (Potential). carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding 0 GTGGAGCGGGCGGGGCGCCGG 0.667 NA 10 7 0.000442599 0.000496582 1 0 MFSD6L 162387 broad.mit.edu 37 17 8702310 8702310 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:8702310C>A uc002glp.1 - 1 277 c.129G>T c.(127-129)TTG>TTT p.L43F NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 43 integral to membrane central_nervous_system(1) 1 AGGGCGCGGCCAAGCCCAGCT 0.652 NA 18 40 1.68e-08 2.19e-08 1 0 GLP2R 9340 broad.mit.edu 37 17 9792733 9792733 + Missense_Mutation SNP G G T rs143908746 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:9792733G>T uc002gmd.1 + 13 1373 c.1373G>T c.(1372-1374)CGC>CTC p.R458L NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 458 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) TTGCTAGCCCGCCACTCAGGC 0.562 NA 16 31 1.37e-15 1.98e-15 1 0 MYH1 4619 broad.mit.edu 37 17 10402013 10402013 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10402013C>T uc002gmo.2 - 30 4205 c.4111G>A c.(4111-4113)GAG>AAG p.E1371K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1371 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 TGGGCAACCTCACTGTTGGCC 0.547 NA 49 109 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10427956 10427956 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10427956G>A uc010coi.2 - 35 5130 c.5002C>T c.(5002-5004)CGG>TGG p.R1668W uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1668W|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1668 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 TCCTGGCTCCGGAGAGCATCA 0.572 NA 21 50 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10429159 10429159 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10429159C>T uc010coi.2 - 31 4350 c.4222G>A c.(4222-4224)GAA>AAA p.E1408K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1408K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1408 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 TCTACATGTTCCTCAGCTGCC 0.483 NA 21 44 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11833273 11833273 + Missense_Mutation SNP A A T rs141342607 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:11833273A>T uc002gne.2 + 63 12036 c.11968A>T c.(11968-11970)ATG>TTG p.M3990L DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Missense_Mutation_p.M302L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3990 AAA 6 (By similarity). 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) CAGGGTCTTCATGAGTGCAGA 0.582 NA 11 21 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12649298 12649298 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:12649298C>T uc002gnn.2 + 9 1333 c.1034C>T c.(1033-1035)CCC>CTC p.P345L MYOCD_uc002gno.2_Missense_Mutation_p.P345L|MYOCD_uc002gnp.1_Missense_Mutation_p.P249L|MYOCD_uc002gnq.2_Missense_Mutation_p.P64L NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 345 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGCAATACCCCCTTGTCTCCT 0.423 NA 76 146 0 0 0 0 ZNF286B 729288 broad.mit.edu 37 17 18566461 18566461 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:18566461T>A uc010vyd.1 - 5 609 c.358A>T c.(358-360)AGC>TGC p.S120C NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN zinc finger protein 286B 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAATCCTTGCTCTGTGGTCTA 0.388 NA 27 45 0 0 0 0 RAB34 83871 broad.mit.edu 37 17 27041920 27041920 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:27041920T>A uc002hce.2 - 9 1229 c.605_splice c.e9-1 p.G202_splice RAB34_uc002hcg.2_Splice_Site_p.G194_splice|RAB34_uc002hcf.2_Splice_Site_p.G203_splice|RAB34_uc010was.1_Splice_Site_p.G259_splice|RAB34_uc010wat.1_Splice_Site_p.G251_splice|RAB34_uc002hch.2_Splice_Site_p.G202_splice|RAB34_uc010wau.1_Splice_Site_p.G180_splice|RAB34_uc010wav.1_Intron NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CATTCTCACCTGACACAGAGA 0.587 NA 12 54 0 0 0 0 KRT12 3859 broad.mit.edu 37 17 39022952 39022952 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:39022952T>A uc002hvk.2 - 1 511 c.487A>T c.(487-489)ACA>TCA p.T163S NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 163 Rod. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GTTCCTCGTGTTTCATACCAT 0.408 NA 54 208 0 0 0 0 HAP1 9001 broad.mit.edu 37 17 39881020 39881020 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:39881020T>C uc002hxm.1 - 12 1961 c.1949A>G c.(1948-1950)AAA>AGA p.K650R JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.K598R|HAP1_uc002hxo.1_Missense_Mutation_p.K581R|HAP1_uc002hxp.1_Missense_Mutation_p.K573R NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 650 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GCACTCACCTTTCTGGAGCAT 0.602 NA 57 188 0 0 0 0 LPO 4025 broad.mit.edu 37 17 56344747 56344747 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:56344747G>A uc002ivt.2 + 12 2047 c.1731G>A c.(1729-1731)CAG>CAA p.Q577Q LPO_uc010wns.1_Silent_p.Q518Q|LPO_uc010dcp.2_Silent_p.Q494Q|LPO_uc010dcq.2_Silent_p.Q248Q|LPO_uc010dcr.2_Silent_p.Q140Q NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 577 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 ACCTCTCACAGCCGCAGACAC 0.552 NA 16 60 0 0 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386506 56386506 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:56386506C>T uc002ivx.3 - 22 4998 c.4127G>A c.(4126-4128)AGA>AAA p.R1376K BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1316K|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1376K NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1376 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCAGGTCTTCGGGGCTG 0.587 NA 47 121 0 0 0 0 PRR11 55771 broad.mit.edu 37 17 57270975 57270975 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:57270975C>A uc002ixf.1 + 5 604 c.525C>A c.(523-525)CCC>CCA p.P175P PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 175 Pro-rich. ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGCTTCCTCCCACACTGCCAC 0.423 NA 17 32 2.23e-06 2.72e-06 1 0 MED13 9969 broad.mit.edu 37 17 60130054 60130054 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:60130054C>T uc002izo.2 - 3 391 c.314G>A c.(313-315)GGA>GAA p.G105E NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 105 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 CTCCCACACTCCATCTTCTTC 0.338 NA 44 181 0 0 0 0 KCNH6 81033 broad.mit.edu 37 17 61623183 61623183 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:61623183C>A uc002jay.2 + 14 2985 c.2905C>A c.(2905-2907)CAC>AAC p.H969N KCNH6_uc010wpl.1_Missense_Mutation_p.H810N|KCNH6_uc010wpm.1_Missense_Mutation_p.H933N|KCNH6_uc002jaz.1_Missense_Mutation_p.H880N NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 969 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCTCCCTGAACACCTTGGCTC 0.567 NA 38 130 7e-10 9.4e-10 1 0 APOH 350 broad.mit.edu 37 17 64225441 64225441 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:64225441T>A uc002jfn.3 - 1 116 c.57A>T c.(55-57)GCA>GCT p.A19A NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 19 blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TACTCCGTCCTGCAATAGCAA 0.363 NA 6 14 0 0 0 0 MAP2K6 5608 broad.mit.edu 37 17 67516411 67516411 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:67516411G>T uc002jij.2 + 6 655 c.367G>T c.(367-369)GGT>TGT p.G123C MAP2K6_uc002jii.2_Missense_Mutation_p.G123C|MAP2K6_uc002jik.2_3'UTR NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 123 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) TGGTCTCCAGGGTGATGTGTG 0.343 NA 26 53 1.55e-18 2.29e-18 1 0 RHBDF2 79651 broad.mit.edu 37 17 74473293 74473293 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:74473293G>A uc002jrq.1 - 8 1269 c.976C>T c.(976-978)CCT>TCT p.P326S RHBDF2_uc002jrp.1_Missense_Mutation_p.P297S|RHBDF2_uc002jrr.1_Missense_Mutation_p.P178S|RHBDF2_uc010wtf.1_Missense_Mutation_p.P297S|RHBDF2_uc002jrs.1_Missense_Mutation_p.P321S NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 326 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 GGGGAGACAGGGGAGGCTGAG 0.632 NA 5 11 0 0 0 0 ENPP7 339221 broad.mit.edu 37 17 77709217 77709217 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:77709217C>A uc002jxa.2 + 3 795 c.775C>A c.(775-777)CTG>ATG p.L259M NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 259 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCTGGCGACCTGGTTGAATT 0.587 NA 16 86 1.57e-10 2.14e-10 1 0 B3GNTL1 146712 broad.mit.edu 37 17 80972342 80972342 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:80972342C>A uc002kgg.1 - 5 410 c.396G>T c.(394-396)CAG>CAT p.Q132H B3GNTL1_uc002kgf.1_5'UTR NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal 132 transferase activity, transferring glycosyl groups ovary(1)|pancreas(1) 2 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TCGACGGGTGCTGAACGGCAG 0.468 NA 10 56 1.59e-06 1.95e-06 1 0 TMEM200C 645369 broad.mit.edu 37 18 5891898 5891898 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:5891898G>A uc002kmx.1 - 1 206 c.165C>T c.(163-165)ATC>ATT p.I55I NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 55 Helical; (Potential). integral to membrane 0 CACAGAGGGCGATGAGCCCTG 0.627 NA 13 36 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7079977 7079977 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:7079977T>A uc002knm.2 - 3 436 c.342A>T c.(340-342)AGA>AGT p.R114S LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 114 Laminin N-terminal. 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) CACCTACCTGTCTTAAGTCCA 0.468 NA 13 49 0 0 0 0 MPPE1 65258 broad.mit.edu 37 18 11888679 11888679 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:11888679C>T uc002kqf.2 - 6 1199 c.558G>A c.(556-558)TGG>TGA p.W186* MPPE1_uc002kqn.2_Nonsense_Mutation_p.W186*|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Nonsense_Mutation_p.W186*|MPPE1_uc002kqk.2_Nonsense_Mutation_p.W186*|MPPE1_uc002kql.2_Nonsense_Mutation_p.W186*|MPPE1_uc002kqm.2_Nonsense_Mutation_p.W186*|MPPE1_uc010dla.1_Nonsense_Mutation_p.W186* NM_023075 NP_075563 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 precursor 186 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity 0 TAATGCCTTTCCAAGAAAACA 0.353 NA 9 31 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14537970 14537970 + Missense_Mutation SNP C C T rs148283099 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:14537970C>T uc010dln.2 - 3 1094 c.640G>A c.(640-642)GTA>ATA p.V214I POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 214 ANK 3. skin(3) 3 TGGCATTGTACGGCCTGTCAG 0.358 NA 6 159 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29848468 29848468 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:29848468G>A uc002kxl.2 - 6 2053 c.1997C>T c.(1996-1998)CCA>CTA p.P666L FAM59A_uc002kxk.1_Missense_Mutation_p.P665L NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 666 ovary(1)|skin(1) 2 AAAAGGTGCTGGGCAGTTTCT 0.532 NA 28 76 0 0 0 0 SLC14A1 6563 broad.mit.edu 37 18 43329784 43329784 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:43329784G>A uc010xcn.1 + 11 1357 c.1038G>A c.(1036-1038)ACG>ACA p.T346T SLC14A1_uc010dnk.2_Silent_p.T402T|SLC14A1_uc002lbf.3_Silent_p.T346T|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Silent_p.T241T|SLC14A1_uc002lbh.3_Silent_p.T238T|SLC14A1_uc002lbi.3_Silent_p.T214T|SLC14A1_uc002lbj.3_Silent_p.T402T|SLC14A1_uc002lbk.3_Silent_p.T346T NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 346 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 GTTTGGCCACGCTATTGTTCC 0.478 NA 48 132 0 0 0 0 TXNL1 9352 broad.mit.edu 37 18 54293689 54293689 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:54293689C>A uc002lgg.2 - 2 348 c.99_splice c.e2-1 p.G33_splice TXNL1_uc010xdz.1_Splice_Site|TXNL1_uc002lgh.2_Splice_Site|TXNL1_uc002lgi.2_Splice_Site_p.G33_splice|TXNL1_uc002lgj.1_Splice_Site_p.G33_splice NM_004786 NP_004777 O43396 TXNL1_HUMAN thioredoxin-like 1 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity 0 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TGGCCCACACCTGTTAGAAAA 0.363 NA 40 120 1.6e-16 2.32e-16 1 0 CPLX4 339302 broad.mit.edu 37 18 56985537 56985537 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:56985537A>G uc002lhy.2 - 1 345 c.158T>C c.(157-159)ATT>ACT p.I53T NM_181654 NP_857637 Q7Z7G2 CPLX4_HUMAN complexin 4 precursor 53 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding ovary(1) 1 Colorectal(73;0.175) CTTCTCCTCAATCATTTGCTT 0.408 NA 56 148 0 0 0 0 VPS4B 9525 broad.mit.edu 37 18 61066522 61066522 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:61066522C>T uc002lix.2 - 8 1085 c.825G>A c.(823-825)CTG>CTA p.L275L VPS4B_uc010dpx.2_Silent_p.L275L|VPS4B_uc010dpy.2_Silent_p.L157L|VPS4B_uc010dpz.1_Silent_p.L157L NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 275 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 TTGTAGCTCCCAGAACCAAAA 0.348 NA 43 100 0 0 0 0 RTTN 25914 broad.mit.edu 37 18 67860629 67860629 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:67860629G>A uc002lkp.2 - 8 970 c.902C>T c.(901-903)TCC>TTC p.S301F RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S301F NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 301 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AGGATTCTGGGAATGATGAGT 0.488 NA 21 69 0 0 0 0 C18orf62 284274 broad.mit.edu 37 18 73130849 73130849 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:73130849C>T uc002lma.1 - 2 223 c.152G>A c.(151-153)CGT>CAT p.R51H C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_RNA NM_001037331 NP_001032408 Q3B7S5 CR062_HUMAN hypothetical protein LOC284274 51 Helical; (Potential). integral to membrane 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) OV - Ovarian serous cystadenocarcinoma(15;6.21e-06) TGTGAAGAAACGAATATGGTG 0.249 NA 32 87 0 0 0 0 GALR1 2587 broad.mit.edu 37 18 74962794 74962794 + Missense_Mutation SNP C C A rs140216881 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:74962794C>A uc002lms.3 + 1 787 c.290C>A c.(289-291)GCG>GAG p.A97E NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 97 Extracellular (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ACCGTGTACGCGCTGCCCACC 0.617 NA 28 128 1.4e-14 1.99e-14 1 0 NCLN 56926 broad.mit.edu 37 19 3207205 3207205 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:3207205G>A uc002lxi.2 + 13 1663 c.1509G>A c.(1507-1509)GAG>GAA p.E503E NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Silent_p.E147E NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 503 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GGGACCCAGAGTTTGTCTTCT 0.512 NA 38 114 0 0 0 0 GPR108 56927 broad.mit.edu 37 19 6734313 6734313 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:6734313T>C uc002mfp.2 - 5 426 c.380A>G c.(379-381)CAG>CGG p.Q127R GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 127 integral to membrane 0 CTTCCGCACCTGGACCCTGGG 0.637 NA OREG0025092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 38 0 0 0 0 INSR 3643 broad.mit.edu 37 19 7120658 7120658 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:7120658C>A uc002mgd.1 - 20 3741 c.3632G>T c.(3631-3633)GGG>GTG p.G1211V INSR_uc002mge.1_Missense_Mutation_p.G1199V NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1211 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTGAAGACCCCATCCTTCAG 0.552 NA 14 51 0.00244969 0.00265821 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7529551 7529551 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:7529551G>A uc002mgi.2 + 13 2568 c.2315G>A c.(2314-2316)GGG>GAG p.G772E ARHGEF18_uc010xjm.1_Missense_Mutation_p.G614E|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G614E|ARHGEF18_uc002mgj.1_Missense_Mutation_p.G415E NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 772 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GACATTCCTGGGAGCTCTGAG 0.557 NA 16 32 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085606 9085606 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:9085606G>A uc002mkp.2 - 1 6413 c.6209C>T c.(6208-6210)TCT>TTT p.S2070F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2070 Ser-rich.|Thr-rich.|Extracellular (Potential). 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 CAGTGCCTCAGATAAACTAGT 0.473 NA 67 167 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9088915 9088915 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:9088915C>T uc002mkp.2 - 1 3104 c.2900G>A c.(2899-2901)TGG>TAG p.W967* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 967 Thr-rich.|Extracellular (Potential). 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 AGTCTCTGGCCAAGTTGTGCT 0.468 NA 61 235 0 0 0 0 RDH8 50700 broad.mit.edu 37 19 10129427 10129427 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:10129427C>A uc002mmr.2 + 3 532 c.283C>A c.(283-285)CTG>ATG p.L95M NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 95 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGGAATGGGCCTGGTGGGGCC 0.517 NA 42 245 6.43e-24 9.8e-24 1 0 TYK2 7297 broad.mit.edu 37 19 10464800 10464800 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:10464800C>A uc002moc.3 - 20 3204 c.2826G>T c.(2824-2826)TCG>TCT p.S942S TYK2_uc010dxe.2_Silent_p.S757S NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 942 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCTTCCAGCCCGAGCGGTGCT 0.627 NA 34 128 1.22e-17 1.79e-17 1 0 ZNF440 126070 broad.mit.edu 37 19 11942379 11942380 + Missense_Mutation DNP GG GG TC TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:11942379_11942380GG>TC uc002msp.1 + 4 544_545 c.388_389GG>TC c.(388-390)GGA>TCA p.G130S NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTGACATTGGACACAAGGCA 0.406 NA 21 221 0 0 0 0 ZNF443 10224 broad.mit.edu 37 19 12542085 12542085 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:12542085T>A uc002mtu.2 - 4 1099 c.901A>T c.(901-903)AGA>TGA p.R301* NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 301 C2H2-type 6. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 GTGTGAGTTCTTTCATGTATT 0.408 NA 68 220 0 0 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739139 15739139 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:15739139G>T uc002nbi.2 + 12 1207 c.1143G>T c.(1141-1143)CTG>CTT p.L381L CYP4F8_uc010xoj.1_Silent_p.L193L NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 381 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 TGCCCTTCCTGACCATGTGCC 0.617 NA 33 120 6.06e-23 9.2e-23 1 0 CPAMD8 27151 broad.mit.edu 37 19 17015051 17015051 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17015051G>T uc002nfb.2 - 32 4409 c.4377C>A c.(4375-4377)GGC>GGA p.G1459G CPAMD8_uc002nfd.1_5'Flank NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1412 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TGGAGGAGAAGCCCCCAAGTG 0.652 NA 6 18 5.94e-07 7.37e-07 1 0 ANKLE1 126549 broad.mit.edu 37 19 17394535 17394535 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17394535G>A uc002nga.2 + 5 1238 c.962G>A c.(961-963)TGG>TAG p.W321* ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Nonsense_Mutation_p.W343*|ANKLE1_uc010xpn.1_Nonsense_Mutation_p.W375*|ANKLE1_uc002nfy.2_Nonsense_Mutation_p.W310*|ANKLE1_uc002nfz.2_Nonsense_Mutation_p.W27* NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 321 nuclear envelope 0 CACTGCCTGTGGGAGCACCAG 0.612 NA 30 123 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17756536 17756536 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17756536G>A uc002nhd.2 - 19 2567 c.2567C>T c.(2566-2568)ACG>ATG p.T856M NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 768 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CTCAATGATCGTCTGCCCCAG 0.592 NA 4 36 0 0 0 0 JAK3 3718 broad.mit.edu 37 19 17949121 17949121 + Missense_Mutation SNP T T A rs140690573 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17949121T>A uc002nhn.3 - 11 1620 c.1520A>T c.(1519-1521)CAG>CTG p.Q507L JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.Q507L|JAK3_uc010xpx.1_3'UTR NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 507 B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CTGACTCAGCTGGTATTGGGA 0.547 2 Mis acute megakaryocytic leukemia| 94 205 0 0 0 0 SLC5A5 6528 broad.mit.edu 37 19 17994720 17994720 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17994720C>T uc002nhr.3 + 12 1738 c.1391C>T c.(1390-1392)ACG>ATG p.T464M NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 464 Helical; (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 TTGGGCGCCACGCTGTACCCA 0.721 NA 5 2 0 0 0 0 IL12RB1 3594 broad.mit.edu 37 19 18182953 18182953 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:18182953C>A uc002nhw.1 - 9 1054 c.990G>T c.(988-990)CAG>CAT p.Q330H IL12RB1_uc010xqb.1_Missense_Mutation_p.Q330H|IL12RB1_uc002nhx.1_Missense_Mutation_p.Q370H|IL12RB1_uc002nhy.2_Missense_Mutation_p.Q330H NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 330 Extracellular (Potential).|Fibronectin type-III 3. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 TGTGCCACGTCTGGTTCAGGC 0.622 NA 6 32 0.00116845 0.00128078 1 0 ZNF208 7757 broad.mit.edu 37 19 22155424 22155424 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22155424G>T uc002nqp.2 - 5 2261 c.2112C>A c.(2110-2112)CCC>CCA p.P704P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCAT 0.363 NA 29 89 9.81e-20 1.46e-19 1 0 ZNF676 163223 broad.mit.edu 37 19 22363057 22363057 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22363057T>C uc002nqs.1 - 3 1780 c.1462A>G c.(1462-1464)ACG>GCG p.T488A NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 488 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTGAGAACGTACTAAAGCCT 0.413 NA 39 128 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363257 22363257 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22363257T>G uc002nqs.1 - 3 1580 c.1262A>C c.(1261-1263)TAC>TCC p.Y421S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 421 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCACACTTGTAGGGTTTCTC 0.433 NA 41 141 0 0 0 0 DPY19L3 147991 broad.mit.edu 37 19 32899172 32899172 + Missense_Mutation SNP C C T rs143875213 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:32899172C>T uc002ntg.2 + 2 189 c.13C>T c.(13-15)CGG>TGG p.R5W DPY19L3_uc002ntf.2_Missense_Mutation_p.R5W|DPY19L3_uc002nth.1_Missense_Mutation_p.R5W NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 5 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) GATGTCCATCCGGCAAAGAAG 0.423 NA 15 56 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36217232 36217232 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:36217232G>T uc010eei.2 + 15 3981 c.3981G>T c.(3979-3981)AGG>AGT p.R1327S NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1327 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) TCTGCCCCAGGTGCACCCAGC 0.592 NA 13 45 1.58e-08 2.07e-08 1 0 ZNF382 84911 broad.mit.edu 37 19 37118348 37118348 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:37118348G>T uc002oek.2 + 5 1662 c.1549G>T c.(1549-1551)GAG>TAG p.E517* ZNF382_uc010efa.2_Nonsense_Mutation_p.E468*|ZNF382_uc010efb.2_Nonsense_Mutation_p.E516*|ZNF382_uc002oel.2_Nonsense_Mutation_p.E516* NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 517 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCACACAGGCGAGAAACCATA 0.423 NA 19 52 1.02e-10 1.39e-10 1 0 LRFN1 57622 broad.mit.edu 37 19 39798856 39798856 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:39798856C>A uc002okw.2 - 2 1733 c.1733G>T c.(1732-1734)CGG>CTG p.R578L NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 578 Cytoplasmic (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) GTGGCTGACCCGCGGGAGCGA 0.697 NA 6 18 0.00116845 0.00128078 1 0 TIMM50 92609 broad.mit.edu 37 19 39972552 39972552 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:39972552T>C uc002olu.1 + 2 580 c.447T>C c.(445-447)ACT>ACC p.T149T TIMM50_uc002olt.1_RNA NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 46 Mitochondrial matrix (Potential). mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCGGGAGCACTAAGGCGCAAG 0.632 NA 25 123 0 0 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213713 42213713 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:42213713A>T uc002ork.2 + 2 300 c.179A>T c.(178-180)CAG>CTG p.Q60L CEACAM5_uc010ehz.1_Missense_Mutation_p.Q60L|CEACAM5_uc002orj.1_Missense_Mutation_p.Q60L|CEACAM5_uc002orl.2_Missense_Mutation_p.Q60L NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 60 Ig-like 1. 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) AATCTGCCCCAGCATCTTTTT 0.507 NA 53 142 0 0 0 0 PSG7 5676 broad.mit.edu 37 19 43430641 43430641 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:43430641G>C uc002ovl.3 - 5 1039 c.937C>G c.(937-939)CGG>GGG p.R313G PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.R191G NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 313 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) TATCGGTCCCGTATTTCACAT 0.522 NA 6 242 0 0 0 0 CABP5 56344 broad.mit.edu 37 19 48543892 48543892 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:48543892T>C uc002phu.1 - 3 333 c.208A>G c.(208-210)ATT>GTT p.I70V NM_019855 NP_062829 Q9NP86 CABP5_HUMAN calcium binding protein 5 70 EF-hand 2. signal transduction cytoplasm calcium ion binding skin(1) 1 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) CCGAGCTCAATCAGTTCCATC 0.527 NA 18 91 0 0 0 0 NOSIP 51070 broad.mit.edu 37 19 50063282 50063282 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:50063282C>A uc002pok.2 - 4 237 c.85G>T c.(85-87)GGG>TGG p.G29W NOSIP_uc002pol.2_Missense_Mutation_p.G29W|NOSIP_uc010yay.1_RNA NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 29 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) TTCTGGGTCCCATAGCCCGAG 0.607 NA 8 26 0.000442599 0.000496582 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51919978 51919978 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:51919978A>G uc002pwo.2 - 3 1264 c.648T>C c.(646-648)CAT>CAC p.H216H SIGLEC10_uc002pwp.2_Silent_p.H158H|SIGLEC10_uc002pwq.2_Silent_p.H158H|SIGLEC10_uc002pwr.2_Silent_p.H216H|SIGLEC10_uc010ycy.1_Silent_p.H216H|SIGLEC10_uc010ycz.1_Silent_p.H168H|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Silent_p.H142H NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 216 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGAAGTCCACATGGCAGGTGA 0.632 NA 12 41 0 0 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986470 51986470 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:51986470G>A uc002pwv.1 + 5 1056 c.1056G>A c.(1054-1056)ATG>ATA p.M352I NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 352 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGGAGCAGATGGGCCGTTACC 0.557 NA 35 93 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52869373 52869373 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:52869373G>T uc002pyx.3 + 6 1148 c.742G>T c.(742-744)GTA>TTA p.V248L ZNF610_uc002pyy.3_Missense_Mutation_p.V248L|ZNF610_uc002pyz.3_Missense_Mutation_p.V205L|ZNF610_uc002pza.2_Missense_Mutation_p.V248L NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 248 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TTCACACCTTGTAGAACATTG 0.403 NA 24 56 9.58e-11 1.31e-10 1 0 ZNF677 342926 broad.mit.edu 37 19 53740380 53740380 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:53740380G>A uc002qbf.1 - 5 1785 c.1600C>T c.(1600-1602)CAG>TAG p.Q534* ZNF677_uc002qbg.1_Nonsense_Mutation_p.Q534* NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 534 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TGTATTTTCTGGTGTCTAGTG 0.318 NA 23 87 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54403966 54403966 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:54403966G>T uc002qcq.1 + 14 1820 c.1538G>T c.(1537-1539)CGC>CTC p.R513L PRKCG_uc010yeg.1_Missense_Mutation_p.R513L|PRKCG_uc010yeh.1_Missense_Mutation_p.R400L NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 513 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACGACAACCCGCACCTTCTGC 0.567 NA 83 414 6.07e-39 9.6e-39 1 0 CACNG6 59285 broad.mit.edu 37 19 54502939 54502939 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:54502939C>T uc002qct.2 + 3 1048 c.458C>T c.(457-459)GCC>GTC p.A153V CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 153 Helical; (Potential). voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GCAGTCATGGCCTTGGGGTGC 0.562 NA 118 347 0 0 0 0 C19orf51 352909 broad.mit.edu 37 19 55677772 55677772 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:55677772G>T uc002qji.1 - 2 44 c.10C>A c.(10-12)CCT>ACT p.P4T C19orf51_uc002qjj.1_Missense_Mutation_p.P51T|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.P51T Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 4 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GAGCCGGCAGGTGTGGTCATC 0.662 NA OREG0025679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 46 2.22e-12 3.08e-12 1 0 SBK2 646643 broad.mit.edu 37 19 56042591 56042591 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:56042591A>G uc010ygc.1 - 2 375 c.375T>C c.(373-375)ATT>ATC p.I125I NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 125 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 ACTCGATGCCAATGCCGTAGG 0.652 NA 10 33 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57325540 57325540 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57325540C>G uc002qnu.2 - 7 4621 c.4270G>C c.(4270-4272)GGG>CGG p.G1424R 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_Missense_Mutation_p.G1395R|PEG3_uc002qnv.2_Missense_Mutation_p.G1424R|PEG3_uc002qnw.2_Missense_Mutation_p.G1300R|PEG3_uc002qnx.2_Missense_Mutation_p.G1298R|PEG3_uc010etr.2_Missense_Mutation_p.G1424R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1424 Glu-rich.|4 X 5 AA repeat of P-X-G-E-A. 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) CCATCTGGCCCTTCAGCCTCT 0.607 NA 18 72 0 0 0 0 USP29 57663 broad.mit.edu 37 19 57641829 57641829 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57641829G>T uc002qny.2 + 4 2142 c.1786G>T c.(1786-1788)GAA>TAA p.E596* NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 596 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTACCCGTTGAACCAGACAA 0.488 NA 19 48 5.39e-06 6.51e-06 1 0 DUXA 503835 broad.mit.edu 37 19 57666725 57666725 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57666725G>T uc002qoa.1 - 5 499 c.454C>A c.(454-456)CGA>AGA p.R152R NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 152 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CTAGATCTTCGATTTTGGAAC 0.383 NA 20 47 1.56e-12 2.18e-12 1 0 ZNF460 10794 broad.mit.edu 37 19 57802666 57802666 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57802666G>A uc002qog.2 + 3 1079 c.757G>A c.(757-759)GTG>ATG p.V253M ZNF460_uc010ygv.1_Missense_Mutation_p.V212M NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 253 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAAGCCCTTTGTGTGCAGTGA 0.542 NA 30 84 0 0 0 0 A1BG 1 broad.mit.edu 37 19 58862906 58862906 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:58862906C>T uc002qsd.3 - 5 823 c.761G>A c.(760-762)AGG>AAG p.R254K NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 254 Ig-like V-type 3. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GGTGCTGCTCCTGGGTACCAG 0.627 NA 11 50 0 0 0 0 TPO 7173 broad.mit.edu 37 2 1459848 1459848 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:1459848G>T uc002qww.2 + 7 704 c.613G>T c.(613-615)GTC>TTC p.V205F TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.V205F|TPO_uc002qwr.2_Missense_Mutation_p.V205F|TPO_uc002qwx.2_Missense_Mutation_p.V205F|TPO_uc010yio.1_Missense_Mutation_p.V205F|TPO_uc010yip.1_Missense_Mutation_p.V205F NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 205 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCCTACCCAGGTCCGGGAGGT 0.493 NA 7 30 0.00198382 0.00215702 1 0 GREB1 9687 broad.mit.edu 37 2 11718542 11718542 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:11718542G>T uc002rbk.1 + 6 1057 c.757G>T c.(757-759)GGA>TGA p.G253* GREB1_uc002rbl.2_Nonsense_Mutation_p.G253*|GREB1_uc002rbm.2_Nonsense_Mutation_p.G143*|GREB1_uc002rbn.1_Nonsense_Mutation_p.G253* NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 253 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CATCCTGATGGGAGCTCAGCA 0.622 NA 24 63 1.11e-12 1.55e-12 1 0 C2orf28 51374 broad.mit.edu 37 2 27438549 27438549 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:27438549A>G uc002rjf.2 + 5 753 c.580A>G c.(580-582)ACT>GCT p.T194A C2orf28_uc002rjg.2_Missense_Mutation_p.T81A|C2orf28_uc002rjh.2_5'Flank|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank NM_080592 NP_542159 Q6UW56 APR3_HUMAN apoptosis related protein 3 isoform b 139 Extracellular (Potential). integral to membrane|plasma membrane skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCTGGAATACTATCACCTC 0.423 NA 55 137 0 0 0 0 SLC30A3 7781 broad.mit.edu 37 2 27480193 27480193 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:27480193C>G uc002rjk.2 - 5 792 c.606G>C c.(604-606)GGG>GGC p.G202G SLC30A3_uc002rjj.2_Missense_Mutation_p.G48A|SLC30A3_uc010ylh.1_Silent_p.G197G NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 202 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGGGGGGGCCCAGCCTGGT 0.662 NA 8 17 0 0 0 0 ABCG8 64241 broad.mit.edu 37 2 44079562 44079562 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:44079562C>T uc002rtq.2 + 5 721 c.631C>T c.(631-633)CGG>TGG p.R211W ABCG8_uc010yoa.1_Missense_Mutation_p.R211W NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 211 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CATGTACGTGCGGGGGTTGTC 0.667 NA 19 44 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54753686 54753686 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:54753686G>T uc002rxu.2 + 2 380 c.131G>T c.(130-132)CGC>CTC p.R44L SPTBN1_uc002rxv.1_Missense_Mutation_p.R44L|RPL23AP32_uc010yot.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 44 Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GAGCGGTCCCGCATCAAGGCT 0.537 NA 16 42 4.75e-09 6.24e-09 1 0 CTNNA2 1496 broad.mit.edu 37 2 79971585 79971585 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:79971585G>T uc010ysh.1 + 2 180 c.175G>T c.(175-177)GTA>TTA p.V59L CTNNA2_uc010yse.1_Missense_Mutation_p.V59L|CTNNA2_uc010ysf.1_Missense_Mutation_p.V59L|CTNNA2_uc010ysg.1_Missense_Mutation_p.V59L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 59 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAAAGCCCATGTACTAGCTGC 0.433 NA 13 38 1.42e-15 2.04e-15 1 0 CTNNA2 1496 broad.mit.edu 37 2 80831210 80831210 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:80831210C>A uc010ysh.1 + 15 2206 c.2201C>A c.(2200-2202)CCA>CAA p.P734Q CTNNA2_uc010yse.1_Missense_Mutation_p.P734Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.P734Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.P734Q|CTNNA2_uc010ysi.1_Missense_Mutation_p.P366Q|CTNNA2_uc010ysj.1_Missense_Mutation_p.P63Q NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 734 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGCAAAGGCCCATTGAAAAAT 0.408 NA 12 41 1.05e-09 1.41e-09 1 0 ZAP70 7535 broad.mit.edu 37 2 98340653 98340653 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:98340653C>T uc002syd.1 + 3 361 c.154C>T c.(154-156)CAC>TAC p.H52Y ZAP70_uc010yvf.1_Missense_Mutation_p.H52Y|ZAP70_uc002sye.1_5'Flank NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 52 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GTCGCTCGTGCACGATGTGCG 0.677 NA 8 8 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98851213 98851213 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:98851213C>G uc002syo.2 + 17 2675 c.2411C>G c.(2410-2412)ACT>AGT p.T804S VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.T323S|VWA3B_uc002sym.2_Missense_Mutation_p.T804S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.T461S|VWA3B_uc002syp.1_Missense_Mutation_p.T196S|VWA3B_uc002syq.1_Missense_Mutation_p.T80S|VWA3B_uc002syr.1_Missense_Mutation_p.T121S|VWA3B_uc010fih.1_5'Flank NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 804 ovary(3)|large_intestine(2)|skin(1) 6 AGCCGGAGGACTGCTCTAAGT 0.532 NA 18 34 0 0 0 0 NMS 129521 broad.mit.edu 37 2 101098739 101098739 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:101098739C>A uc002tan.1 + 9 422 c.415C>A c.(415-417)CCC>ACC p.P139T NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 139 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 TTTTTTTCAGCCCAGGAATGG 0.423 NA 15 90 1.36e-06 1.67e-06 1 0 IL1RL1 9173 broad.mit.edu 37 2 102955393 102955393 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:102955393C>G uc002tbu.1 + 3 429 c.158C>G c.(157-159)ACA>AGA p.T53R IL1RL1_uc010ywa.1_Intron|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.T53R NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 53 Extracellular (Potential).|Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 TACTCACAAACAAACAAAAGT 0.418 NA 54 231 0 0 0 0 GPR45 11250 broad.mit.edu 37 2 105859167 105859167 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:105859167C>T uc002tco.1 + 1 968 c.852C>T c.(850-852)TCC>TCT p.S284S NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 284 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TGCCCCACTCCGTCTACAGCC 0.587 NA 75 220 0 0 0 0 IL1F8 27177 broad.mit.edu 37 2 113788710 113788710 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:113788710A>G uc002tiq.1 - 3 140 c.36T>C c.(34-36)TAT>TAC p.Y12Y IL1F8_uc002tir.1_Silent_p.Y12Y NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 12 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 CACGAATAGCATAGGATTTGG 0.463 NA 15 44 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125285021 125285021 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:125285021G>A uc002tno.2 + 10 1998 c.1634G>A c.(1633-1635)AGC>AAC p.S545N CNTNAP5_uc010flu.2_Missense_Mutation_p.S546N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 545 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GATCTGTGTAGCATCAAAGAC 0.398 NA 38 120 0 0 0 0 GPR17 2840 broad.mit.edu 37 2 128408390 128408390 + Silent SNP G G A rs145234598 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:128408390G>A uc010yzn.1 + 4 776 c.165G>A c.(163-165)ACG>ACA p.T55T LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T55T|GPR17_uc010yzo.1_Silent_p.T27T|GPR17_uc002tpd.2_Silent_p.T27T NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 55 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gccaggagacgccactggaga 0.1 NA OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 90 0 0 0 0 UBXN4 23190 broad.mit.edu 37 2 136499519 136499519 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:136499519C>G uc002tur.2 + 1 331 c.20C>G c.(19-21)GCC>GGC p.A7G NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 7 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 TTCCAGGGCGCCATTCCGGCC 0.701 NA 7 23 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141130602 141130602 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:141130602C>A uc002tvj.1 - 69 11715 c.10743G>T c.(10741-10743)GGG>GGT p.G3581G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3581 Extracellular (Potential).|LDL-receptor class A 27. 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) TCTCATCTTCCCCATATTTGC 0.363 NA TSP Lung(27;0.18) 45 183 1e-16 1.45e-16 1 0 LRP1B 53353 broad.mit.edu 37 2 141460116 141460116 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:141460116C>A uc002tvj.1 - 38 7002 c.6030G>T c.(6028-6030)TTG>TTT p.L2010F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2010 Extracellular (Potential).|LDL-receptor class B 21. 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) CAGTCCAGAACAAGAGGCTGA 0.398 NA TSP Lung(27;0.18) 18 80 2.38e-13 3.34e-13 1 0 MBD5 55777 broad.mit.edu 37 2 149226486 149226486 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:149226486G>T uc002twm.3 + 9 1962 c.974G>T c.(973-975)CGA>CTA p.R325L MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.R325L|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 325 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GAAATACCACGAGCAATGTTC 0.433 NA 23 59 2.89e-11 3.97e-11 1 0 GALNT13 114805 broad.mit.edu 37 2 155102362 155102362 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:155102362G>T uc002tyr.3 + 7 1291 c.724G>T c.(724-726)GAT>TAT p.D242Y GALNT13_uc002tyt.3_Missense_Mutation_p.D242Y|GALNT13_uc010foc.1_Missense_Mutation_p.D61Y|GALNT13_uc010fod.2_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 242 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGTGATTAGTGATGATACTTT 0.363 NA 43 142 1.52e-22 2.3e-22 1 0 GALNT13 114805 broad.mit.edu 37 2 155158090 155158090 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:155158090A>T uc002tyr.3 + 9 1711 c.1144A>T c.(1144-1146)ATC>TTC p.I382F GALNT13_uc002tyt.3_Missense_Mutation_p.I382F|GALNT13_uc010foc.1_Missense_Mutation_p.I201F|GALNT13_uc010fod.2_Missense_Mutation_p.I135F NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 382 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTTCTTCTACATCATATCCCC 0.353 NA 40 136 0 0 0 0 RBMS1 5937 broad.mit.edu 37 2 161223858 161223858 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:161223858G>A uc002ubo.2 - 2 564 c.120C>T c.(118-120)AGC>AGT p.S40S RBMS1_uc002ubj.2_Silent_p.S7S|RBMS1_uc002ubk.2_Silent_p.S7S|RBMS1_uc002ubl.2_Silent_p.S38S|RBMS1_uc002ubn.2_Silent_p.S40S|RBMS1_uc002ubi.3_Silent_p.S40S|RBMS1_uc002ubm.2_Silent_p.S7S|RBMS1_uc002ubp.2_Silent_p.S40S|RBMS1_uc010fox.2_Silent_p.S40S NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 40 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 tgctggtggtgctgGGACTGG 0.433 NA 31 74 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 166019249 166019249 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166019249C>T uc002ucx.2 - 8 1276 c.784G>A c.(784-786)GCT>ACT p.A262T SCN3A_uc002ucy.2_Missense_Mutation_p.A262T|SCN3A_uc002ucz.2_Missense_Mutation_p.A262T|SCN3A_uc002uda.1_Missense_Mutation_p.A131T|SCN3A_uc002udb.1_Missense_Mutation_p.A131T NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 262 Helical; Name=S5 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CCAATGAGAGCAAACACGCTC 0.483 NA 34 98 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166187857 166187857 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166187857C>G uc002udc.2 + 14 2457 c.2167C>G c.(2167-2169)CAG>GAG p.Q723E SCN2A_uc002udd.2_Missense_Mutation_p.Q723E|SCN2A_uc002ude.2_Missense_Mutation_p.Q723E NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 723 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGAATCCAGACAGAAATGCCC 0.338 NA 25 92 0 0 0 0 GALNT3 2591 broad.mit.edu 37 2 166606398 166606398 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166606398C>T uc010fph.1 - 10 2020 c.1633G>A c.(1633-1635)GAA>AAA p.E545K NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 545 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 GCAGAGTATTCAAAGTACTAT 0.383 NA 33 130 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170136935 170136935 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:170136935A>G uc002ues.2 - 11 1479 c.1266T>C c.(1264-1266)AAT>AAC p.N422N LRP2_uc010zdf.1_Silent_p.N422N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 422 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCACTCCACGATTCTGAGACT 0.448 NA 17 75 0 0 0 0 GPR155 151556 broad.mit.edu 37 2 175326175 175326175 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:175326175G>A uc002uit.2 - 10 1906 c.1515C>T c.(1513-1515)CAC>CAT p.H505H GPR155_uc002uiu.2_Silent_p.H505H|GPR155_uc002uiv.2_Silent_p.H505H|GPR155_uc010fqs.2_Silent_p.H477H NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 505 intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 TATCTCCATTGTGTTTTCCAG 0.383 NA 43 137 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179437412 179437412 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179437412G>T uc010zfg.1 - 275 65967 c.65743C>A c.(65743-65745)CTG>ATG p.L21915M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L15610M|TTN_uc010zfi.1_Missense_Mutation_p.L15543M|TTN_uc010zfj.1_Missense_Mutation_p.L15418M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22842 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) ACAATAAGCAGGGTGTAAGAG 0.428 NA 38 97 4.33e-17 6.31e-17 1 0 TTN 7273 broad.mit.edu 37 2 179476296 179476296 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179476296T>A uc010zfg.1 - 218 43180 c.42956A>T c.(42955-42957)TAC>TTC p.Y14319F uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y8014F|TTN_uc010zfi.1_Missense_Mutation_p.Y7947F|TTN_uc010zfj.1_Missense_Mutation_p.Y7822F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15246 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) TTCAACATGGTATCCTATGAT 0.438 NA 41 135 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179537416 179537416 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179537416G>T uc010zfg.1 - 148 31122 c.30898C>A c.(30898-30900)CCT>ACT p.P10300T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6961T|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11227 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) TTTTCCTCAGGAATTTTCTTT 0.373 NA 6 24 1.07e-07 1.36e-07 1 0 TTN 7273 broad.mit.edu 37 2 179588378 179588378 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179588378G>T uc010zfg.1 - 71 17941 c.17717C>A c.(17716-17718)CCA>CAA p.P5906Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2567Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6833 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) ATTTTTGCCTGGTAGTACTTC 0.433 NA 11 27 0.00829132 0.00880817 1 0 TTN 7273 broad.mit.edu 37 2 179603084 179603084 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179603084G>A uc010zfg.1 - 46 10588 c.10364C>T c.(10363-10365)GCC>GTC p.A3455V TTN_uc010zfh.1_Missense_Mutation_p.A4528V|TTN_uc010zfi.1_Missense_Mutation_p.A4461V|TTN_uc010zfj.1_Missense_Mutation_p.A4336V|TTN_uc002umz.1_Missense_Mutation_p.A116V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4382 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) GATCACTGGGGCAGCTGCAAA 0.453 NA 11 43 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179605479 179605479 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179605479A>T uc010zfh.1 - 46 12192 c.11968T>A c.(11968-11970)TTC>ATC p.F3990I TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3923I|TTN_uc010zfj.1_Missense_Mutation_p.F3798I|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TCTTTGGAGAAGGTTTTCTGG 0.448 NA 50 158 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179611115 179611115 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179611115G>T uc002unb.2 - 46 16236 c.16012C>A c.(16012-16014)CCT>ACT p.P5338T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TTATGGTCAGGAGTAAATTCG 0.348 NA 21 89 1.02e-10 1.39e-10 1 0 TTN 7273 broad.mit.edu 37 2 179611834 179611834 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179611834G>T uc002unb.2 - 46 15517 c.15293C>A c.(15292-15294)CCC>CAC p.P5098H TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTCTCCTGGGGGTGTGGAGTA 0.522 NA 41 147 6.24e-21 9.36e-21 1 0 TTN 7273 broad.mit.edu 37 2 179635394 179635394 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179635394T>C uc010zfg.1 - 35 8349 c.8125A>G c.(8125-8127)ATT>GTT p.I2709V TTN_uc010zfh.1_Missense_Mutation_p.I2663V|TTN_uc010zfi.1_Missense_Mutation_p.I2663V|TTN_uc010zfj.1_Missense_Mutation_p.I2663V|TTN_uc002unb.2_Missense_Mutation_p.I2709V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2709 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) GTCTTCTTAATTTTGACAGCT 0.393 NA 49 129 0 0 0 0 SESTD1 91404 broad.mit.edu 37 2 180014079 180014079 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:180014079C>G uc002uni.3 - 7 676 c.526G>C c.(526-528)GAA>CAA p.E176Q NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 176 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAAGCAAGTTCATCTAATAAT 0.289 NA 13 34 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634252 180634252 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:180634252G>C uc002unn.3 - 3 835 c.231C>G c.(229-231)AGC>AGG p.S77R NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 77 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TGCTGCTGGGGCTGGCCTGGG 0.607 NA 9 61 0 0 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543323 182543323 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:182543323T>G uc002uof.2 - 2 501 c.265A>C c.(265-267)AAG>CAG p.K89Q CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 89 Poly-Lys.|Nuclear localization signal (Potential). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTCATCTTCTTCTTTTTGGGG 0.413 NA 10 37 0 0 0 0 DNAJC10 54431 broad.mit.edu 37 2 183594599 183594600 + Missense_Mutation DNP AG AG CT TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:183594599_183594600AG>CT uc002uow.1 + 8 1073_1074 c.658_659AG>CT c.(658-660)AGA>CTA p.R220L DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.R220L|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 220 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCATGGAGACAGATCAAAGGAG 0.312 NA 26 106 0 0 0 0 CALCRL 10203 broad.mit.edu 37 2 188245205 188245205 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:188245205C>T uc002upv.3 - 7 945 c.397G>A c.(397-399)GAG>AAG p.E133K CALCRL_uc010frt.2_Missense_Mutation_p.E133K NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 133 Extracellular (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTCACTTTCTCGTGGGTGTTA 0.338 NA 10 253 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189870076 189870076 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:189870076G>T uc002uqj.1 + 41 3049 c.2932G>T c.(2932-2934)GGT>TGT p.G978C NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 978 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) TTGTATACAGGGTGAAAGTGG 0.413 NA 32 150 1.46e-13 2.06e-13 1 0 SLC40A1 30061 broad.mit.edu 37 2 190430079 190430079 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:190430079C>A uc002uqp.3 - 6 1111 c.760_splice c.e6+1 p.D254_splice NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 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) GTTCAGTTTACCTTTGTGTAA 0.368 NA 23 49 1.85e-09 2.46e-09 1 0 ANKRD44 91526 broad.mit.edu 37 2 197943433 197943433 + Silent SNP C C A rs146996314 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:197943433C>A uc002uua.1 - 16 1646 c.1569G>T c.(1567-1569)CTG>CTT p.L523L ANKRD44_uc002utz.3_Silent_p.L255L|ANKRD44_uc002uub.2_Silent_p.L548L|ANKRD44_uc010zgw.1_Silent_p.L476L NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 548 ANK 16. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCACCAATTCCAGACACTGCC 0.418 NA 11 20 0.000219431 0.000251067 1 0 KLF7 8609 broad.mit.edu 37 2 207989096 207989096 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:207989096C>G uc002vbz.1 - 2 457 c.135G>C c.(133-135)ACG>ACC p.T45T KLF7_uc002vca.1_Silent_p.T45T|KLF7_uc010zix.1_Silent_p.T17T NM_003709 NP_003700 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 45 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) TCCGGGGCTCCGTCTGTAGGT 0.557 NA 9 24 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216251534 216251534 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:216251534A>C uc002vfa.2 - 28 4756 c.4490T>G c.(4489-4491)GTG>GGG p.V1497G FN1_uc002vfb.2_Missense_Mutation_p.V1406G|FN1_uc002vfc.2_Missense_Mutation_p.V1406G|FN1_uc002vfd.2_Missense_Mutation_p.V1497G|FN1_uc002vfe.2_Missense_Mutation_p.V1406G|FN1_uc002vff.2_Missense_Mutation_p.V1406G|FN1_uc002vfg.2_Missense_Mutation_p.V1406G|FN1_uc002vfh.2_Missense_Mutation_p.V1406G|FN1_uc002vfi.2_Missense_Mutation_p.V1497G|FN1_uc002vfj.2_Missense_Mutation_p.V1497G|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.V124G NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1496 Fibronectin type-III 10.|Cell-attachment. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGTGGGGCACCCGATCTTC 0.542 NA 12 40 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225400280 225400280 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:225400280C>T uc002vny.2 - 3 727 c.343G>A c.(343-345)GCT>ACT p.A115T CUL3_uc010zls.1_Missense_Mutation_p.A49T|CUL3_uc010fwy.1_Missense_Mutation_p.A121T NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 115 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATCACCATAGCTGTTTGATGA 0.313 NA 13 35 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882377 228882377 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:228882377G>T uc002vpq.2 - 7 3240 c.3193C>A c.(3193-3195)CCC>ACC p.P1065T SPHKAP_uc002vpp.2_Missense_Mutation_p.P1065T|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1065T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1065 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 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;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGATTCCGGGGATAGCCCTGC 0.562 NA 25 45 3.74e-20 5.59e-20 1 0 SP140L 93349 broad.mit.edu 37 2 231249970 231249970 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:231249970G>A uc010fxm.1 + 9 826 c.735G>A c.(733-735)TCG>TCA p.S245S SP140L_uc010fxo.1_Silent_p.S52S NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 245 nucleus DNA binding|metal ion binding central_nervous_system(1) 1 AGCTGGTCTCGAGTGAAAAGA 0.458 NA 3 55 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238296331 238296331 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:238296331G>T uc002vwl.2 - 4 1491 c.1206C>A c.(1204-1206)GTC>GTA p.V402V COL6A3_uc002vwo.2_Silent_p.V196V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.V196V|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.V402V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 402 VWFA 2.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAATTCCGGGACAGTAAACA 0.542 NA 4 21 0.00909568 0.00953133 1 0 SNPH 9751 broad.mit.edu 37 20 1286353 1286353 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:1286353C>A uc002wes.2 + 6 1376 c.1140C>A c.(1138-1140)ACC>ACA p.T380T SNPH_uc002wet.2_Silent_p.T424T NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 380 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 AGCCCATCACCCGTGGACCCA 0.672 NA 13 52 0.00136819 0.00149669 1 0 STK35 140901 broad.mit.edu 37 20 2097588 2097588 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:2097588G>T uc010gak.2 + 3 1169 c.1169G>T c.(1168-1170)GGG>GTG p.G390V STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.G257V NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 390 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GTCTGTGCTGGGCTGGCACCC 0.542 NA 13 78 2.32e-09 3.07e-09 1 0 SEL1L2 80343 broad.mit.edu 37 20 13868594 13868594 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:13868594C>A uc010gcf.2 - 7 739 c.657G>T c.(655-657)ATG>ATT p.M219I SEL1L2_uc002woq.3_Missense_Mutation_p.M80I|SEL1L2_uc010zrl.1_Missense_Mutation_p.M219I|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 219 Sel1-like 4.|Extracellular (Potential). integral to membrane binding ovary(2) 2 AAACCAAAATCATCTGGGACA 0.368 NA 17 119 2.94e-08 3.82e-08 1 0 C20orf12 55184 broad.mit.edu 37 20 18377178 18377178 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:18377178T>A uc010zsa.1 - 15 1815 c.1606A>T c.(1606-1608)ACT>TCT p.T536S C20orf12_uc010zrz.1_Missense_Mutation_p.T55S|C20orf12_uc002wqp.3_Missense_Mutation_p.T227S|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.T403S|C20orf12_uc002wqq.3_Missense_Mutation_p.T517S NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 344 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) TCGTGGACAGTAGCAGAGATA 0.383 NA 58 90 0 0 0 0 VSX1 30813 broad.mit.edu 37 20 25060074 25060074 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:25060074G>A uc002wuf.2 - 2 536 c.501C>T c.(499-501)CAC>CAT p.H167H VSX1_uc002wue.2_RNA|VSX1_uc010gdd.1_Silent_p.H167H|VSX1_uc010gde.1_RNA|VSX1_uc010gdf.1_Silent_p.H167H|VSX1_uc002wug.1_Silent_p.H167H NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN visual system homeobox 1 isoform a 167 Homeobox. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCCTATACCTGTGCCGCCGCT 0.557 NA 13 29 0 0 0 0 DLGAP4 22839 broad.mit.edu 37 20 35154397 35154397 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:35154397C>A uc002xff.2 + 12 3174 c.2739C>A c.(2737-2739)CCC>CCA p.P913P DLGAP4_uc010zvp.1_Silent_p.P913P|DLGAP4_uc002xfg.2_Silent_p.P209P|DLGAP4_uc002xfh.2_Silent_p.P377P|DLGAP4_uc002xfi.2_Silent_p.P222P|DLGAP4_uc002xfj.2_Silent_p.P209P|uc002xfk.3_Intron NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 916 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGGAGACCCCCGAGAAGAGGA 0.572 NA 27 85 3.58e-08 4.61e-08 1 0 RBPJL 11317 broad.mit.edu 37 20 43942234 43942234 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:43942234C>A uc002xns.2 + 7 818 c.746C>A c.(745-747)ACG>AAG p.T249K RBPJL_uc002xnt.2_Missense_Mutation_p.T249K NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 249 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GCTGCCTTCACGCTCCACCTG 0.378 NA 11 19 2.81e-09 3.7e-09 1 0 POTEH 23784 broad.mit.edu 37 22 16287846 16287846 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:16287846C>T uc010gqp.2 - 1 92 c.40G>A c.(40-42)GTG>ATG p.V14M POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 14 skin(1) 1 GGCTTCTTCACAGAGGAGGCA 0.587 NA 34 70 0 0 0 0 C22orf29 79680 broad.mit.edu 37 22 19839663 19839663 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:19839663G>A uc002zqg.2 - 2 721 c.122C>T c.(121-123)CCC>CTC p.P41L GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.P41L|C22orf29_uc002zqi.2_Missense_Mutation_p.P41L|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 41 0 Colorectal(54;0.0993) ATCCACAAGGGGGGTGTATGC 0.617 NA 48 125 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26159210 26159210 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:26159210G>A uc003abz.1 + 3 302 c.52G>A c.(52-54)GAC>AAC p.D18N MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 18 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCGGGAAGAGGACAAGAGCCC 0.542 NA 8 34 0 0 0 0 NCF4 4689 broad.mit.edu 37 22 37273817 37273817 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:37273817G>C uc003apy.3 + 10 1156 c.972G>C c.(970-972)CTG>CTC p.L324L NCF4_uc003apz.3_3'UTR NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 324 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 CCTGGAAGCTGCACATCACGC 0.607 NA 7 17 0 0 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283742 40283742 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:40283742C>T uc003ayg.2 - 2 262 c.11G>A c.(10-12)AGG>AAG p.R4K NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 4 p.R4K(1) ovary(2)|skin(1) 3 Melanoma(58;0.0749) CACTTGTCTCCTGAACGCCAT 0.393 NA 19 62 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656831 46656831 + Missense_Mutation SNP G G T rs140368137 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:46656831G>T uc003bhh.2 - 1 2389 c.2389C>A c.(2389-2391)CGC>AGC p.R797S NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 797 Extracellular (Potential).|REJ. 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) GATCGAAAGCGTTTATCTTTT 0.398 NA 32 112 1.08e-15 1.56e-15 1 0 SCO2 9997 broad.mit.edu 37 22 50962505 50962505 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:50962505C>G uc003bma.2 - 2 512 c.336G>C c.(334-336)CGG>CGC p.R112R SCO2_uc003blz.3_Silent_p.R112R NM_005138 NP_005129 O43819 SCO2_HUMAN cytochrome oxidase deficient homolog 2 112 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCAGCGAGCCCGGCCTCTGT 0.632 NA 10 38 0 0 0 0 CPT1B 1375 broad.mit.edu 37 22 51009711 51009711 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:51009711T>G uc003bmk.3 - 14 1913 c.1751A>C c.(1750-1752)AAG>ACG p.K584T CPT1B_uc003bml.2_Missense_Mutation_p.K584T|CPT1B_uc003bmm.2_Missense_Mutation_p.K584T|CPT1B_uc003bmo.2_Missense_Mutation_p.K584T|CPT1B_uc011asa.1_Missense_Mutation_p.K550T|CPT1B_uc003bmn.2_Missense_Mutation_p.K584T|CPT1B_uc011asb.1_Missense_Mutation_p.K503T|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.K379T|uc003bmr.1_RNA NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 584 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CAGGCAGAACTTACCCCTGTC 0.602 NA 10 41 0 0 0 0 OXTR 5021 broad.mit.edu 37 3 8809254 8809254 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:8809254G>A uc003brc.2 - 3 1242 c.620C>T c.(619-621)GCT>GTT p.A207V NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 207 Helical; Name=5; (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GATGTAGACAGCTAGCGTGAT 0.612 NA 17 28 0 0 0 0 SLC6A11 6538 broad.mit.edu 37 3 10861414 10861414 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:10861414C>G uc003bvz.2 + 3 443 c.409C>G c.(409-411)CAG>GAG p.Q137E SLC6A11_uc003bvy.1_Missense_Mutation_p.Q137E NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 137 Helical; Name=3; (Potential). 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) CTATGCAACACAGGTGATTGA 0.448 NA 48 112 0 0 0 0 C3orf20 84077 broad.mit.edu 37 3 14755664 14755664 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:14755664C>A uc003byy.2 + 8 1715 c.1311C>A c.(1309-1311)ACC>ACA p.T437T C3orf20_uc003byz.2_Silent_p.T315T|C3orf20_uc003bza.2_Silent_p.T315T|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 437 cytoplasm|integral to membrane ovary(3)|skin(1) 4 ACCTAAAAACCAGGTAAGTGG 0.498 NA 18 33 9.17e-09 1.2e-08 1 0 SH3BP5 9467 broad.mit.edu 37 3 15300345 15300345 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:15300345G>A uc003bzp.1 - 7 1071 c.882C>T c.(880-882)GCC>GCT p.A294A SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Silent_p.A137A|SH3BP5_uc003bzr.1_Silent_p.A137A|uc003bzo.1_RNA NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 294 Ser-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 TACCAGAAATGGCATCAGGCT 0.572 NA 18 37 0 0 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478684 21478684 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:21478684C>A uc003cce.2 - 5 859 c.451G>T c.(451-453)GGG>TGG p.G151W ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 151 Thr-rich. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GCTGGTGTCCCTGCAGTACCG 0.408 NA 35 58 3.09e-21 4.65e-21 1 0 NEK10 152110 broad.mit.edu 37 3 27216146 27216146 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:27216146T>C uc010hfk.2 - 6 849 c.620A>G c.(619-621)GAG>GGG p.E207G NEK10_uc003cds.1_Missense_Mutation_p.E292G|NEK10_uc010hfj.2_Missense_Mutation_p.E207G Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 895 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 AGTACCTTTCTCAGCATTTTC 0.483 NA 41 103 0 0 0 0 NEK10 152110 broad.mit.edu 37 3 27233635 27233635 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:27233635G>C uc010hfk.2 - 5 555 c.326C>G c.(325-327)TCC>TGC p.S109C NEK10_uc003cds.1_Missense_Mutation_p.S194C|NEK10_uc010hfj.2_Missense_Mutation_p.S109C Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 797 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GGACAACTGGGATGTAGATAA 0.448 NA 32 73 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38921582 38921582 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:38921582G>T uc011ays.1 - 19 3451 c.3252C>A c.(3250-3252)CCC>CCA p.P1084P SCN11A_uc010hhn.1_Silent_p.P162P NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1084 III. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.P1084P(1) skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTGGATTTTGGGTTGGTTCT 0.338 NA 13 32 1.36e-13 1.93e-13 1 0 TRAK1 22906 broad.mit.edu 37 3 42132991 42132991 + Silent SNP C C G rs144753843 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:42132991C>G uc003cky.2 + 1 246 c.30C>G c.(28-30)CCC>CCG p.P10P TRAK1_uc011azh.1_Silent_p.P10P|TRAK1_uc011azi.1_Silent_p.P10P NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 10 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TCGGGCAGCCCGTCAGGGCTC 0.537 NA 8 40 0 0 0 0 DOCK3 1795 broad.mit.edu 37 3 51263131 51263131 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:51263131G>T uc011bds.1 + 15 1327 c.1304G>T c.(1303-1305)AGA>ATA p.R435I NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 435 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GATTTCGAGAGAGGAGGAAAG 0.463 NA 44 74 7.53e-24 1.15e-23 1 0 GLT8D1 55830 broad.mit.edu 37 3 52734476 52734476 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:52734476T>A uc003dfi.3 - 2 140 c.1A>T c.(1-3)ATG>TTG p.M1L GLT8D1_uc003dfj.2_Missense_Mutation_p.M1L|GLT8D1_uc003dfk.2_Missense_Mutation_p.M1L|GLT8D1_uc003dfl.2_Missense_Mutation_p.M1L|GLT8D1_uc003dfm.2_Missense_Mutation_p.M1L|GLT8D1_uc003dfn.2_Missense_Mutation_p.M1L|GLT8D1_uc003dfo.1_Missense_Mutation_p.M1L|GLT8D1_uc010hmm.1_RNA NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 1 Cytoplasmic (Potential). integral to membrane|mitochondrion transferase activity, transferring glycosyl groups 0 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGAATGACATCTTTTTCTTC 0.338 NA 5 115 0 0 0 0 SFMBT1 51460 broad.mit.edu 37 3 52977588 52977588 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:52977588C>A uc003dgf.2 - 5 714 c.145G>T c.(145-147)GGA>TGA p.G49* SFMBT1_uc010hmr.2_5'UTR|SFMBT1_uc003dgg.2_Nonsense_Mutation_p.G49*|SFMBT1_uc003dgh.2_Nonsense_Mutation_p.G49* NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 49 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GGAGCAAATCCATTTTGCAAA 0.433 NA 33 85 1.22e-17 1.79e-17 1 0 OR5H14 403273 broad.mit.edu 37 3 97868307 97868307 + Silent SNP C C A rs146669592 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:97868307C>A uc003dsg.1 + 1 78 c.78C>A c.(76-78)CCC>CCA p.P26P NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGAAAATACCCCTGTTCCTGG 0.418 NA 162 224 1.82e-84 2.91e-84 1 0 OR5H15 403274 broad.mit.edu 37 3 97887742 97887742 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:97887742G>C uc011bgu.1 + 1 199 c.199G>C c.(199-201)GCT>CCT p.A67P NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGGAATTTAGCTTTTGTGGA 0.403 NA 64 247 0 0 0 0 COL8A1 1295 broad.mit.edu 37 3 99509677 99509677 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:99509677T>C uc003dtg.1 + 4 396 c.151T>C c.(151-153)TAC>CAC p.Y51H COL8A1_uc003dth.1_Missense_Mutation_p.Y51H|COL8A1_uc003dti.1_Missense_Mutation_p.Y51H NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 51 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 AATTCCACAATACCAGCCCCT 0.537 NA 19 74 0 0 0 0 TRAT1 50852 broad.mit.edu 37 3 108557809 108557809 + Missense_Mutation SNP C C A rs150919761 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:108557809C>A uc003dxi.1 + 3 291 c.147C>A c.(145-147)CAC>CAA p.H49Q TRAT1_uc010hpx.1_Missense_Mutation_p.H12Q NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 49 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 CCAGTGACCACACCAGGTATG 0.318 NA 18 119 6.33e-15 9.05e-15 1 0 MORC1 27136 broad.mit.edu 37 3 108822766 108822766 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:108822766T>A uc003dxl.2 - 4 242 c.155_splice c.e4-1 p.V52_splice MORC1_uc011bhn.1_Splice_Site_p.V52_splice NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CATTATCCACTGTAAGAGAAA 0.398 NA 45 133 0 0 0 0 DPPA4 55211 broad.mit.edu 37 3 109050622 109050622 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:109050622C>T uc003dxq.3 - 4 404 c.349G>A c.(349-351)GCA>ACA p.A117T DPPA4_uc011bho.1_Missense_Mutation_p.A117T|DPPA4_uc011bhp.1_Missense_Mutation_p.A117T NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 117 nucleus protein binding upper_aerodigestive_tract(1) 1 CGCTTATATGCATCCAATTTC 0.448 NA 30 158 0 0 0 0 SLC9A10 285335 broad.mit.edu 37 3 111870716 111870716 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:111870716A>T uc003dyu.2 - 28 3734 c.3512T>A c.(3511-3513)CTA>CAA p.L1171Q SLC9A10_uc011bhu.1_Missense_Mutation_p.L434Q|SLC9A10_uc010hqc.2_Missense_Mutation_p.L1123Q NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1171 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 GACTTTCCTTAGGTTTATTCT 0.522 NA 51 109 0 0 0 0 SLC35A5 55032 broad.mit.edu 37 3 112299779 112299779 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:112299779A>G uc003dze.2 + 6 1060 c.815A>G c.(814-816)TAT>TGT p.Y272C NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 272 Helical; (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 AGCAAACTCTATTTCTTTGGC 0.388 NA 24 93 0 0 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375785 113375785 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:113375785G>A uc003eam.2 - 7 5155 c.4744C>T c.(4744-4746)CCT>TCT p.P1582S KIAA2018_uc003eal.2_Missense_Mutation_p.P1526S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1582 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTAGTTGAAGGGTTTTCACAG 0.498 NA 43 73 0 0 0 0 ZNF80 7634 broad.mit.edu 37 3 113955434 113955434 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:113955434C>A uc010hqo.2 - 1 992 c.488G>T c.(487-489)TGC>TTC p.C163F ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 163 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACATTCTTTGCACCCAAAGAG 0.488 NA 32 190 4.66e-17 6.77e-17 1 0 ADPRH 141 broad.mit.edu 37 3 119305452 119305452 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:119305452G>T uc003ecs.2 + 4 917 c.619G>T c.(619-621)GTC>TTC p.V207F ADPRH_uc010hqv.2_Missense_Mutation_p.V207F|ADPRH_uc011bjb.1_Missense_Mutation_p.V100F|ADPRH_uc003ect.2_Missense_Mutation_p.V207F NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 207 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AAAGTACATTGTCCAATCAGG 0.483 NA 36 121 6.03e-25 9.23e-25 1 0 GOLGB1 2804 broad.mit.edu 37 3 121413755 121413755 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:121413755T>G uc003eei.3 - 13 5726 c.5600A>C c.(5599-5601)GAA>GCA p.E1867A GOLGB1_uc010hrc.2_Missense_Mutation_p.E1872A|GOLGB1_uc003eej.3_Missense_Mutation_p.E1833A|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1753A|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1831A NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1867 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTCTCATTTTCTAAAGTCTG 0.353 NA 87 340 0 0 0 0 PARP9 83666 broad.mit.edu 37 3 122247277 122247277 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:122247277T>C uc010hri.2 - 11 2644 c.2499A>G c.(2497-2499)TCA>TCG p.S833S PARP9_uc003eff.3_Silent_p.S798S|PARP9_uc011bjs.1_Silent_p.S798S|PARP9_uc003efg.2_Silent_p.S378S|PARP9_uc003efi.2_Silent_p.S798S|PARP9_uc003efh.2_Silent_p.S833S NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 833 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) TCATTGGTCCTGATGAGTAAT 0.453 NA 35 136 0 0 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802771 124802771 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:124802771G>T uc003ehv.3 - 14 2219 c.2108C>A c.(2107-2109)TCC>TAC p.S703Y SLC12A8_uc003ehw.3_Missense_Mutation_p.S732Y|SLC12A8_uc003eht.3_Missense_Mutation_p.S504Y|SLC12A8_uc003ehu.3_Missense_Mutation_p.S456Y|SLC12A8_uc010hry.2_3'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 703 potassium ion transport integral to membrane symporter activity 0 GTTCACGAGGGAGGAGTGGTG 0.572 NA 4 32 0.00909568 0.00953133 1 0 CHST13 166012 broad.mit.edu 37 3 126255138 126255138 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:126255138C>A uc003eja.2 + 2 122 c.122C>A c.(121-123)TCC>TAC p.S41Y NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN carbohydrate sulfotransferase 13 41 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.151) GCCCTGGGCTCCAGCTGGCTT 0.592 NA 21 122 2.28e-19 3.39e-19 1 0 EPHB1 2047 broad.mit.edu 37 3 134825427 134825427 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:134825427C>A uc003eqt.2 + 4 1163 c.943C>A c.(943-945)CCA>ACA p.P315T EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Silent_p.L203L|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 315 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CTTTGACCCTCCAGAAGTGGC 0.587 NA 17 57 5.39e-06 6.51e-06 1 0 STAG1 10274 broad.mit.edu 37 3 136192475 136192475 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:136192475C>A uc003era.1 - 11 1323 c.1031G>T c.(1030-1032)GGG>GTG p.G344V STAG1_uc003erb.1_Missense_Mutation_p.G344V|STAG1_uc003erc.1_Missense_Mutation_p.G118V|STAG1_uc010hua.1_Missense_Mutation_p.G207V NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 344 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 CCTGACTTCCCCTTGCTTCAG 0.348 NA 10 88 2.81e-09 3.7e-09 1 0 CLSTN2 64084 broad.mit.edu 37 3 140281733 140281733 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:140281733C>A uc003etn.2 + 14 2483 c.2293C>A c.(2293-2295)CGG>AGG p.R765R NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 765 Extracellular (Potential). R -> Q (in a colorectal cancer sample; somatic mutation). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.R765Q(1) skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CCTTGAGGCCCGGCGTTTCCG 0.572 NA HNSCC(16;0.037) 11 72 3.86e-05 4.51e-05 1 0 TRPC1 7220 broad.mit.edu 37 3 142522827 142522827 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:142522827G>T uc003evc.2 + 11 1902 c.1766G>T c.(1765-1767)GGC>GTC p.G589V TRPC1_uc003evb.2_Missense_Mutation_p.G555V|TRPC1_uc011bni.1_Missense_Mutation_p.G108V NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 589 Helical; (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AGGTTCATTGGCACCTGCTTT 0.328 NA 22 108 1.11e-09 1.48e-09 1 0 PLOD2 5352 broad.mit.edu 37 3 145799596 145799596 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:145799596C>A uc003evs.1 - 12 1793 c.1287G>T c.(1285-1287)TGG>TGT p.W429C PLOD2_uc003evq.1_Missense_Mutation_p.W89C|PLOD2_uc011bnm.1_Missense_Mutation_p.W374C|PLOD2_uc003evr.1_Missense_Mutation_p.W429C NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 429 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TCAATGCTCCCCAGAAATTGG 0.378 NA 15 106 2.32e-09 3.07e-09 1 0 ZIC4 84107 broad.mit.edu 37 3 147114163 147114163 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147114163G>T uc003ewd.1 - 3 437 c.164C>A c.(163-165)CCC>CAC p.P55H ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.P105H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 55 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AGGACGGCTGGGGGAGGCCTG 0.716 NA 10 38 1.59e-06 1.95e-06 1 0 ZIC1 7545 broad.mit.edu 37 3 147130344 147130344 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147130344G>C uc003ewe.2 + 2 1741 c.1022G>C c.(1021-1023)CGG>CCG p.R341P NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 341 C2H2-type 4. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGCTGTGACCGGCGCTTCGCT 0.532 NA 29 117 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147131168 147131168 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147131168C>T uc003ewe.2 + 3 1893 c.1174C>T c.(1174-1176)CAG>TAG p.Q392* NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 392 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCAGGGCTCGCAGCCTTCGCC 0.622 NA 21 147 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147131266 147131266 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147131266C>A uc003ewe.2 + 3 1991 c.1272C>A c.(1270-1272)CCC>CCA p.P424P NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 424 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTTATCGCCCTCCTCCTCCG 0.562 NA 25 163 4.72e-08 6.08e-08 1 0 TSC22D2 9819 broad.mit.edu 37 3 150128674 150128674 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:150128674G>T uc003exv.2 + 1 1887 c.1537G>T c.(1537-1539)GTG>TTG p.V513L TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.V513L NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 513 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCCTGCAGCCGTGCCCGCTCC 0.647 NA 8 55 2.18e-05 2.57e-05 1 0 MED12L 116931 broad.mit.edu 37 3 151067863 151067863 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:151067863A>T uc003eyp.2 + 15 2200 c.2162A>T c.(2161-2163)CAT>CTT p.H721L MED12L_uc011bnz.1_Missense_Mutation_p.H581L|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 721 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) TCTTCAAGTCATGAATGTAAC 0.433 NA 100 592 0 0 0 0 MME 4311 broad.mit.edu 37 3 154861232 154861232 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:154861232G>T uc010hvr.1 + 13 1400 c.1189G>T c.(1189-1191)GCC>TCC p.A397S MME_uc003fab.1_Missense_Mutation_p.A397S|MME_uc003fac.1_Missense_Mutation_p.A397S|MME_uc003fad.1_Missense_Mutation_p.A397S|MME_uc003fae.1_Missense_Mutation_p.A397S NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 397 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTTCCGTAGGCCCTTTATGG 0.418 NA 29 219 1.75e-13 2.47e-13 1 0 IL12A 3592 broad.mit.edu 37 3 159711264 159711264 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:159711264G>A uc003fcx.2 + 4 620 c.405G>A c.(403-405)GAG>GAA p.E135E uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN interleukin 12A precursor 101 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTCCAGAGAGACCTCTTTCA 0.313 NA 10 100 0 0 0 0 IFT80 57560 broad.mit.edu 37 3 160037641 160037641 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:160037641A>G uc011boy.1 - 9 1297 c.864T>C c.(862-864)TGT>TGC p.C288C IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.C151C|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_Silent_p.C151C NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 288 WD 6. cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTCCATTTCCACAGGCTCCAG 0.408 NA 45 145 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906635 164906635 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:164906635C>A uc003fej.3 - 2 2428 c.1984G>T c.(1984-1986)GTT>TTT p.V662F SLITRK3_uc003fek.2_Missense_Mutation_p.V662F NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 662 Helical; (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AAAAACAGAACCAGCAGGCTG 0.527 NA HNSCC(40;0.11) 15 52 1.36e-06 1.67e-06 1 0 WDR49 151790 broad.mit.edu 37 3 167272580 167272580 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:167272580C>T uc003fev.1 - 6 964 c.658G>A c.(658-660)GAC>AAC p.D220N WDR49_uc003feu.1_Missense_Mutation_p.D45N|WDR49_uc011bpd.1_Missense_Mutation_p.D273N|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 220 WD 4. large_intestine(1)|ovary(1)|skin(1) 3 CCATTGAAGTCCCATATCTTT 0.323 NA 56 219 0 0 0 0 SAMD7 344658 broad.mit.edu 37 3 169639112 169639112 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:169639112G>A uc003fgd.2 + 4 464 c.197G>A c.(196-198)AGT>AAT p.S66N SAMD7_uc003fge.2_Missense_Mutation_p.S66N|SAMD7_uc011bpo.1_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 66 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GTGTTGTCCAGTCGGATCTAC 0.438 NA 35 185 0 0 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046816 172046816 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:172046816G>T uc003fhy.2 + 12 1501 c.1329G>T c.(1327-1329)CCG>CCT p.P443P FNDC3B_uc003fhz.3_Silent_p.P443P|FNDC3B_uc003fia.2_Silent_p.P374P NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 443 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGCTTTGTCCGGCAATGGGGT 0.473 NA 29 164 2.48e-08 3.22e-08 1 0 PIK3CA 5290 broad.mit.edu 37 3 178948139 178948139 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:178948139T>C uc003fjk.2 + 20 3068 c.2911T>C c.(2911-2913)TGC>CGC p.C971R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 971 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGCCCAAGAATGCACAAAGAC 0.343 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 21 124 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180321002 180321002 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:180321002G>T uc003fkk.2 + 3 509 c.377G>T c.(376-378)GGT>GTT p.G126V TTC14_uc003fkl.2_Missense_Mutation_p.G126V|TTC14_uc003fkm.2_Missense_Mutation_p.G126V NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 126 S1 motif. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTGAGCGTGGTGATATAGTG 0.378 NA 43 245 4.67e-22 7.03e-22 1 0 B3GNT5 84002 broad.mit.edu 37 3 182987805 182987805 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:182987805C>T uc003flk.2 + 2 749 c.219C>T c.(217-219)TAC>TAT p.Y73Y MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Silent_p.Y73Y|B3GNT5_uc003flm.2_Silent_p.Y73Y NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 73 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGCCTCGCTACCAATACTTGA 0.418 NA 39 159 0 0 0 0 HTR3E 285242 broad.mit.edu 37 3 183824076 183824076 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:183824076C>A uc010hxq.2 + 8 1552 c.1086C>A c.(1084-1086)CCC>CCA p.P362P HTR3E_uc003fml.3_Silent_p.P347P|HTR3E_uc003fmm.2_Silent_p.P377P|HTR3E_uc010hxr.2_Silent_p.P388P|HTR3E_uc003fmn.2_Silent_p.P362P NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 362 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GATGCTGTCCCACTGCGCCCC 0.577 NA 12 60 0.000978159 0.00108025 1 0 TBCCD1 55171 broad.mit.edu 37 3 186272075 186272075 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:186272075C>A uc003fqg.2 - 6 1641 c.1512G>T c.(1510-1512)TGG>TGT p.W504C TBCCD1_uc011bry.1_Missense_Mutation_p.W504C|TBCCD1_uc003fqh.2_Missense_Mutation_p.W408C NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 504 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding large_intestine(1)|ovary(1) 2 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CAGTTTTCTGCCAGATCTGTA 0.408 NA 45 246 1.42e-22 2.14e-22 1 0 ATP13A3 79572 broad.mit.edu 37 3 194149640 194149640 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:194149640T>G uc003fty.3 - 27 3283 c.2881A>C c.(2881-2883)AGT>CGT p.S961R NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 961 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCTAGGTTACTTAAGATCTAC 0.294 NA 16 66 0 0 0 0 TMEM44 93109 broad.mit.edu 37 3 194336360 194336360 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:194336360T>A uc010hzn.2 - 8 1160 c.991A>T c.(991-993)AGA>TGA p.R331* TMEM44_uc010hzm.2_Nonsense_Mutation_p.R16*|TMEM44_uc003fuc.2_Nonsense_Mutation_p.R16*|TMEM44_uc003fue.2_Nonsense_Mutation_p.R284*|TMEM44_uc003fud.2_Nonsense_Mutation_p.R284*|TMEM44_uc003fuf.2_Nonsense_Mutation_p.R284*|TMEM44_uc011bsv.1_Nonsense_Mutation_p.R284*|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 331 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) GGGCTCTCTCTGGCTTCCTTG 0.478 NA 104 390 0 0 0 0 UBXN7 26043 broad.mit.edu 37 3 196129879 196129879 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:196129879C>T uc003fwm.3 - 3 308 c.233G>A c.(232-234)CGT>CAT p.R78H UBXN7_uc003fwn.3_Translation_Start_Site|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.R78H NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 78 protein binding ovary(2)|pancreas(1) 3 AATTGGGGCACGAACTTCTTC 0.318 NA 56 373 0 0 0 0 IQCG 84223 broad.mit.edu 37 3 197665493 197665493 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:197665493C>T uc003fyo.2 - 4 587 c.441G>A c.(439-441)CAG>CAA p.Q147Q IQCG_uc003fyn.2_Silent_p.Q49Q|IQCG_uc003fyp.2_Silent_p.Q147Q|IQCG_uc003fyq.3_Silent_p.Q147Q NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 147 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) AGACAAGATCCTGCATTTTGT 0.433 NA 120 654 0 0 0 0 ZNF595 152687 broad.mit.edu 37 4 59410 59410 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:59410G>T uc003fzv.1 + 2 247 c.91G>T c.(91-93)GAT>TAT p.D31Y ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.D31Y|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 31 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) TTTGTATAGAGATGTGATGTT 0.423 NA 37 831 5.72e-15 8.18e-15 1 0 ZFYVE28 57732 broad.mit.edu 37 4 2306180 2306180 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:2306180G>T uc003gex.1 - 8 2206 c.1887C>A c.(1885-1887)CCC>CCA p.P629P ZFYVE28_uc011bvk.1_Silent_p.P559P|ZFYVE28_uc011bvl.1_Silent_p.P599P|ZFYVE28_uc003gew.1_Silent_p.P515P NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 629 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 TGTCGGAAGTGGGGGCTTTGG 0.667 NA 36 71 6.05e-29 9.37e-29 1 0 YIPF7 285525 broad.mit.edu 37 4 44626780 44626780 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:44626780C>G uc010ifx.1 - 5 535 c.518G>C c.(517-519)GGT>GCT p.G173A NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 173 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 ATACACATAACCAAACTGAAC 0.478 NA 4 3 0 0 0 0 NFXL1 152518 broad.mit.edu 37 4 47877297 47877297 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:47877297C>T uc010igh.2 - 18 2270 c.2093G>A c.(2092-2094)TGC>TAC p.C698Y NFXL1_uc003gxo.2_Missense_Mutation_p.C23Y|NFXL1_uc003gxp.2_Missense_Mutation_p.C698Y|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.C698Y NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 698 NF-X1-type 8. integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 ACAATGAAGGCATTCTGGGCC 0.428 NA 12 75 0 0 0 0 SPATA18 132671 broad.mit.edu 37 4 52917908 52917908 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:52917908C>G uc003gzl.2 + 1 316 c.38C>G c.(37-39)ACT>AGT p.T13S SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.T13S|SPATA18_uc003gzk.1_Missense_Mutation_p.T13S NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 13 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCAAACGAAACTTTACGAACG 0.567 NA 40 236 0 0 0 0 KDR 3791 broad.mit.edu 37 4 55968085 55968085 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:55968085C>T uc003has.2 - 15 2547 c.2245G>A c.(2245-2247)GAG>AAG p.E749K KDR_uc003hat.1_Missense_Mutation_p.E749K NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 749 Ig-like C2-type 7.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAAAATGCCTCCACTTTTGCA 0.333 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 77 80 0 0 0 0 PROL1 58503 broad.mit.edu 37 4 71275727 71275727 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:71275727C>T uc003hfi.2 + 3 856 c.682C>T c.(682-684)CAA>TAA p.Q228* NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 228 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) GACTTCCAACCAAACTATATT 0.408 NA 26 68 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73968234 73968234 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:73968234C>T uc003hgp.2 - 25 4549 c.4432G>A c.(4432-4434)GCT>ACT p.A1478T ANKRD17_uc003hgo.2_Missense_Mutation_p.A1365T|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1227T|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1477T NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1478 Potential. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) cttttcGCAGCCAAAGCCAGC 0.264 NA 11 41 0 0 0 0 NUP54 53371 broad.mit.edu 37 4 77053715 77053715 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:77053715G>T uc003hjs.2 - 6 996 c.868C>A c.(868-870)CCT>ACT p.P290T NUP54_uc010ije.2_Missense_Mutation_p.P8T|NUP54_uc011cbs.1_Missense_Mutation_p.P110T|NUP54_uc011cbt.1_Missense_Mutation_p.P242T|NUP54_uc003hjt.2_Missense_Mutation_p.P110T NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 290 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 ATCTGTGCAGGAGAAAGTTCT 0.383 NA 9 224 1.62e-10 2.19e-10 1 0 CCDC158 339965 broad.mit.edu 37 4 77283402 77283402 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:77283402C>A uc003hkb.3 - 12 2050 c.1897G>T c.(1897-1899)GAA>TAA p.E633* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 633 Potential. skin(3)|ovary(2)|pancreas(1) 6 TTCACCTTTTCCAGCTCCAAG 0.408 NA 7 239 0.00448238 0.00482833 1 0 ANXA3 306 broad.mit.edu 37 4 79500196 79500196 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:79500196T>C uc003hld.2 + 4 429 c.119T>C c.(118-120)ATG>ACG p.M40T ANXA3_uc003hle.2_Missense_Mutation_p.M1T|ANXA3_uc010ijk.2_Missense_Mutation_p.M1T NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 40 Annexin 1. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 GATGAGAAAATGCTCATCAGC 0.368 NA 17 30 0 0 0 0 WDFY3 23001 broad.mit.edu 37 4 85600085 85600085 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:85600085G>A uc003hpd.2 - 65 10542 c.10134C>T c.(10132-10134)AGC>AGT p.S3378S WDFY3_uc003hpc.2_Silent_p.S133S NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3378 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTTTCAATCTGCTGTAATTCC 0.517 NA 40 89 0 0 0 0 DMP1 1758 broad.mit.edu 37 4 88583240 88583240 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:88583240G>A uc003hqv.2 + 6 414 c.310G>A c.(310-312)GAC>AAC p.D104N DMP1_uc003hqw.2_Missense_Mutation_p.D88N NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 104 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TGATAAAGATGACGATGAAGA 0.502 NA 8 27 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104062227 104062227 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:104062227A>G uc003hxb.1 - 36 5588 c.5498T>C c.(5497-5499)ATT>ACT p.I1833T CENPE_uc003hxc.1_Missense_Mutation_p.I1808T|CENPE_uc003hxd.1_5'Flank NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1833 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTTAACGTAATAAGTTGATG 0.279 NA 9 31 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111397696 111397696 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:111397696G>A uc003iab.3 + 1 468 c.126G>A c.(124-126)TCG>TCA p.S42S NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 42 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGACCAGATCGTGTGACTCCA 0.612 NA 9 156 0 0 0 0 PRDM5 11107 broad.mit.edu 37 4 121828688 121828688 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:121828688C>A uc003idn.2 - 2 368 c.118G>T c.(118-120)GGA>TGA p.G40* PRDM5_uc003ido.2_Nonsense_Mutation_p.G40*|PRDM5_uc010ine.2_Nonsense_Mutation_p.G40*|PRDM5_uc010inf.2_Nonsense_Mutation_p.G40*|PRDM5_uc003idp.1_Nonsense_Mutation_p.G40* NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 40 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CTCTTCTCTCCAGCAAAGGGT 0.328 NA 45 114 3.51e-19 5.2e-19 1 0 DCHS2 54798 broad.mit.edu 37 4 155226280 155226280 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:155226280G>T uc003inw.2 - 16 3999 c.3999C>A c.(3997-3999)GAC>GAA p.D1333E NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1333 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAATTTCTCTGTCAAGTATGG 0.338 NA 8 50 2.18e-05 2.57e-05 1 0 TLL1 7092 broad.mit.edu 37 4 166910618 166910618 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:166910618C>A uc003irh.1 + 2 902 c.255C>A c.(253-255)CCC>CCA p.P85P TLL1_uc011cjn.1_Silent_p.P85P|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 85 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) CGCAGAACCCCTTTGGAAACC 0.328 NA 46 131 1.07e-20 1.61e-20 1 0 GALNTL6 442117 broad.mit.edu 37 4 173269706 173269706 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:173269706C>A uc003isv.2 + 5 1155 c.419C>A c.(418-420)CCA>CAA p.P140Q NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 140 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GAAAGGCTGCCAAACACCAGC 0.403 NA 40 105 9.15e-12 1.26e-11 1 0 LRP2BP 55805 broad.mit.edu 37 4 186295607 186295607 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:186295607C>T uc003ixj.1 - 4 1151 c.339G>A c.(337-339)GGG>GGA p.G113G LRP2BP_uc003ixk.1_Silent_p.G87G|LRP2BP_uc011ckr.1_Silent_p.G113G NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 113 Sel1-like 1. cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TATAGTCCACCCCTTTCTCCT 0.393 NA 34 77 0 0 0 0 IRX1 79192 broad.mit.edu 37 5 3600253 3600253 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:3600253C>T uc003jde.2 + 2 1243 c.1191C>T c.(1189-1191)CCC>CCT p.P397P NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 397 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 TTGGCGCTCCCCACGCCGCGC 0.667 NA 11 42 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7709444 7709444 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:7709444G>T uc003jdz.1 + 10 1589 c.1522G>T c.(1522-1524)GCA>TCA p.A508S ADCY2_uc011cmo.1_Missense_Mutation_p.A328S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 508 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CAAGCCCTTTGCACACCTACA 0.602 NA 8 40 5.18e-06 6.28e-06 1 0 ADCY2 108 broad.mit.edu 37 5 7826861 7826861 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:7826861G>T uc003jdz.1 + 25 3220 c.3153G>T c.(3151-3153)CAG>CAT p.Q1051H ADCY2_uc011cmo.1_Missense_Mutation_p.Q871H|ADCY2_uc010itm.1_Missense_Mutation_p.Q247H NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1051 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCGTCCTGCAGACCCTCGGAT 0.433 NA 23 105 4.54e-19 6.72e-19 1 0 DNAH5 1767 broad.mit.edu 37 5 13692194 13692194 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:13692194G>T uc003jfd.2 - 79 13816 c.13774C>A c.(13774-13776)CGA>AGA p.R4592R DNAH5_uc003jfc.2_Silent_p.R760R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4592 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAGTCCGTTCGAACTGGCTTC 0.468 NA Kartagener_syndrome 15 89 6.32e-08 8.1e-08 1 0 DNAH5 1767 broad.mit.edu 37 5 13876810 13876810 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:13876810T>A uc003jfd.2 - 22 3421 c.3379A>T c.(3379-3381)ATC>TTC p.I1127F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1127 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GTGGAGTTGATAATTGTGCTA 0.378 NA Kartagener_syndrome 17 82 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23524604 23524604 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:23524604G>T uc003jgo.2 + 10 1294 c.1112G>T c.(1111-1113)AGC>ATC p.S371I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 371 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 AAGTGGGGCAGCAAGTGGAAG 0.468 NA HNSCC(3;0.000094) 26 87 1.79e-09 2.38e-09 1 0 PDZD2 23037 broad.mit.edu 37 5 32090710 32090710 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:32090710G>A uc003jhl.2 + 20 7544 c.7156G>A c.(7156-7158)GGT>AGT p.G2386S PDZD2_uc003jhm.2_Missense_Mutation_p.G2386S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2386 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGGCCACCCAGGTGACGCAGC 0.617 NA 14 52 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33534996 33534996 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:33534996G>C uc003jia.1 - 23 4711 c.4548C>G c.(4546-4548)CAC>CAG p.H1516Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1431Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1516 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GTCTGGGTTTGTGATCACATA 0.493 NA HNSCC(64;0.19) 35 112 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577237 33577237 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:33577237C>G uc003jia.1 - 19 3057 c.2894G>C c.(2893-2895)CGG>CCG p.R965P ADAMTS12_uc010iuq.1_Missense_Mutation_p.R880P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 965 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ACTGCGAATCCGCACTCCACC 0.493 NA HNSCC(64;0.19) 30 118 0 0 0 0 IL7R 3575 broad.mit.edu 37 5 35876247 35876247 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:35876247C>T uc003jjs.2 + 8 1128 c.1039C>T c.(1039-1041)CCC>TCC p.P347S IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 347 Cytoplasmic (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) TGTGCAGAGCCCCAACTGCCC 0.502 NA 17 52 0 0 0 0 C9 735 broad.mit.edu 37 5 39308356 39308356 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:39308356C>T uc003jlv.3 - 8 1305 c.1216G>A c.(1216-1218)GTA>ATA p.V406I NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 406 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CCCCTCTTTACACAATCATCT 0.418 NA 24 94 0 0 0 0 C7 730 broad.mit.edu 37 5 40979897 40979897 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:40979897C>T uc003jmh.2 + 17 2350 c.2236C>T c.(2236-2238)CAT>TAT p.H746Y C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 746 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TTGCAAGATGCATGTTCTCCA 0.453 NA 14 53 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000408 41000408 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:41000408G>A uc003jmj.3 - 39 4886 c.4396C>T c.(4396-4398)CAG>TAG p.Q1466* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.Q1021* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1466 binding ovary(6)|central_nervous_system(2) 8 TAGAGCTCCTGGAGGCCCAAA 0.488 NA 13 56 0 0 0 0 GFM2 84340 broad.mit.edu 37 5 74017519 74017519 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:74017519A>G uc003kdh.1 - 21 2605 c.2301T>C c.(2299-2301)GAT>GAC p.D767D GFM2_uc003kdi.1_Silent_p.D720D|GFM2_uc010izj.1_Silent_p.D799D|GFM2_uc010izk.1_RNA NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 767 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GTGTATTTTGATCTTGAGGAT 0.383 NA 25 72 0 0 0 0 IQGAP2 10788 broad.mit.edu 37 5 75906917 75906917 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:75906917T>C uc003kek.2 + 13 1652 c.1430T>C c.(1429-1431)CTC>CCC p.L477P IQGAP2_uc010izv.2_Missense_Mutation_p.L30P|IQGAP2_uc011csv.1_Missense_Mutation_p.L30P|IQGAP2_uc003kel.2_Missense_Mutation_p.L30P NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 477 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAAACTTTGCTCCTACCTACT 0.408 NA 41 86 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89933675 89933675 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:89933675T>C uc003kju.2 + 11 2246 c.2150T>C c.(2149-2151)TTA>TCA p.L717S GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 717 Calx-beta 5.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTTTGTTTTTATCTGGGCAA 0.423 NA 29 52 0 0 0 0 PAM 5066 broad.mit.edu 37 5 102286460 102286460 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:102286460G>T uc003knw.2 + 11 1214 c.841G>T c.(841-843)GGT>TGT p.G281C PAM_uc003kns.2_Missense_Mutation_p.G281C|PAM_uc003knt.2_Missense_Mutation_p.G281C|PAM_uc003knu.2_Missense_Mutation_p.G281C|PAM_uc003knv.2_Missense_Mutation_p.G281C|PAM_uc011cuz.1_Missense_Mutation_p.G184C NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 281 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGTAAGTTTTGGTGACCTACT 0.368 NA 28 56 3.67e-24 5.61e-24 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102474116 102474116 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:102474116G>A uc003kod.3 + 5 949 c.430G>A c.(430-432)GAA>AAA p.E144K PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.E144K|PPIP5K2_uc010jbo.1_Missense_Mutation_p.E66K NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 144 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TCTTCAAGCTGAAGGTATTTT 0.338 NA 16 47 0 0 0 0 MCC 4163 broad.mit.edu 37 5 112384928 112384928 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:112384928C>A uc003kqj.3 - 14 2477 c.1947G>T c.(1945-1947)AAG>AAT p.K649N MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.K839N|MCC_uc011cwb.1_Missense_Mutation_p.K649N NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 649 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GCGTGCTCAGCTTCAGCTCCA 0.597 NA 14 29 4.93e-13 6.92e-13 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176058 140176058 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140176058G>T uc003lhd.2 + 1 1615 c.1509G>T c.(1507-1509)GCG>GCT p.A503A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A503A|PCDHA2_uc011czy.1_Silent_p.A503A NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCGCGTTGTCGAGCT 0.677 NA 17 33 5.35e-07 6.66e-07 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181115 140181115 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140181115C>A uc003lhf.2 + 1 333 c.333C>A c.(331-333)GAC>GAA p.D111E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.D111E NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 111 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCGTGGACAGGCCGCTGC 0.507 NA 55 115 1.11e-26 1.71e-26 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215406 140215406 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140215406G>T uc003lhq.2 + 1 1438 c.1438G>T c.(1438-1440)GGG>TGG p.G480W 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.G480W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 480 Cadherin 5.|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) TGTGTCGGCGGGGGACGCGGA 0.672 NA 22 26 7.93e-12 1.1e-11 1 0 PCDHA9 9752 broad.mit.edu 37 5 140229949 140229949 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140229949C>T uc003lhu.2 + 1 2593 c.1869C>T c.(1867-1869)CGC>CGT p.R623R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.R623R NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 623 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGTTCCGCGTGGGGCTGT 0.667 NA 18 50 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236300 140236300 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140236300G>T uc003lhx.2 + 1 667 c.667G>T c.(667-669)GGA>TGA p.G223* 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_Nonsense_Mutation_p.G223*|PCDHA10_uc011dad.1_Nonsense_Mutation_p.G223* NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 223 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATTTACCGGATCTGTTTC 0.433 NA 60 113 6.2e-27 9.56e-27 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250827 140250827 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140250827G>T uc003lia.2 + 1 2997 c.2139G>T c.(2137-2139)ACG>ACT p.T713T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.T713T NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 713 Helical; (Potential). 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) TGGTACTCACGCTGCTGCTGT 0.687 NA 12 30 1.09e-07 1.38e-07 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553967 140553967 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140553967G>T uc003lit.2 + 1 1725 c.1551G>T c.(1549-1551)AGG>AGT p.R517S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 517 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCCCTCAGGTCCCTGGACT 0.706 NA 28 60 2.44e-19 3.62e-19 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573129 140573129 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140573129T>A uc003lix.2 + 1 1178 c.1004T>A c.(1003-1005)GTG>GAG p.V335E NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 335 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGTTTTAGTGGAAGTATTG 0.408 NA 41 80 0 0 0 0 SLC36A2 153201 broad.mit.edu 37 5 150712872 150712872 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:150712872G>A uc003lty.2 - 7 886 c.756C>T c.(754-756)GAC>GAT p.D252D GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.D54D|SLC36A2_uc010jhv.2_Silent_p.D252D NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 252 Extracellular (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCGGCTGGGGTCTGGGATTT 0.438 NA 25 56 0 0 0 0 FOXI1 2299 broad.mit.edu 37 5 169535593 169535593 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:169535593C>A uc003mai.3 + 2 1160 c.1115C>A c.(1114-1116)CCC>CAC p.P372H FOXI1_uc003maj.3_Missense_Mutation_p.P277H NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 372 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCCTCTACCCCAGGGAGGGC 0.572 NA Pendred_syndrome 24 75 7.38e-10 9.91e-10 1 0 RANBP17 64901 broad.mit.edu 37 5 170720913 170720913 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:170720913T>A uc003mba.2 + 26 2986 c.2970T>A c.(2968-2970)ATT>ATA p.I990I RANBP17_uc003mbb.2_Silent_p.I315I|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 990 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGAACACCATTGTCTTTGAAG 0.488 NA T TRD@ ALL 61 137 0 0 0 0 HK3 3101 broad.mit.edu 37 5 176309035 176309035 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:176309035C>T uc003mfa.2 - 16 2239 c.2147G>A c.(2146-2148)GGC>GAC p.G716D HK3_uc003mez.2_Missense_Mutation_p.G272D NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 716 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAAAGGCGCCCCACTCCAT 0.632 NA 23 56 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176637631 176637631 + Nonsense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:176637631C>G uc003mfr.3 + 5 2369 c.2231C>G c.(2230-2232)TCA>TGA p.S744* NSD1_uc003mft.3_Nonsense_Mutation_p.S475*|NSD1_uc003mfs.1_Nonsense_Mutation_p.S641*|NSD1_uc011dfx.1_Nonsense_Mutation_p.S392* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 744 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAACCCCAGTCAGATTTTACA 0.438 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 25 56 0 0 0 0 CAP2 10486 broad.mit.edu 37 6 17539517 17539517 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:17539517A>G uc003ncb.2 + 8 897 c.654A>G c.(652-654)ACA>ACG p.T218T CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.T192T|CAP2_uc011djb.1_Silent_p.T154T|CAP2_uc011djc.1_Silent_p.T106T|CAP2_uc011djd.1_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN adenylyl cyclase-associated protein 2 218 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding ovary(1) 1 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TAGCATCCACAGTATCAGCGT 0.567 NA 59 195 0 0 0 0 SOX4 6659 broad.mit.edu 37 6 21596066 21596066 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:21596066T>G uc003ndi.2 + 1 2095 c.1301T>G c.(1300-1302)TTT>TGT p.F434C NM_003107 NP_003098 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 434 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity 0 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GACCTGGATTTTAACTTCGAG 0.607 NA 10 26 0 0 0 0 FAM65B 9750 broad.mit.edu 37 6 24873954 24873954 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:24873954C>A uc003neo.1 - 3 351 c.175G>T c.(175-177)GGC>TGC p.G59C FAM65B_uc011djs.1_Missense_Mutation_p.G88C|FAM65B_uc011dju.1_Missense_Mutation_p.G93C|FAM65B_uc003nep.2_Missense_Mutation_p.G59C|FAM65B_uc011djt.1_Missense_Mutation_p.G59C NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 59 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 TTTTTGTGGCCTAAATTGTGC 0.428 NA 26 107 4.27e-12 5.91e-12 1 0 SCGN 10590 broad.mit.edu 37 6 25665232 25665232 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:25665232C>A uc003nfb.2 + 4 511 c.308C>A c.(307-309)CCA>CAA p.P103Q SCGN_uc010jpz.2_Missense_Mutation_p.H13N NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 103 extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 CGGGAAAACCCACTGGACAGC 0.493 NA 17 70 4.97e-08 6.38e-08 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115070 27115070 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:27115070G>A uc003niz.2 + 1 163 c.163G>A c.(163-165)GTG>ATG p.V55M HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 55 nucleosome assembly nucleosome|nucleus DNA binding 0 CCTGGCTGCGGTGCTGGAGTA 0.652 NA 26 59 0 0 0 0 OR2W1 26692 broad.mit.edu 37 6 29012793 29012793 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:29012793G>T uc003nlw.2 - 1 160 c.160C>A c.(160-162)CAG>AAG p.Q54K NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTATGAAGCTGGGAATCCAGG 0.428 NA 38 106 1.84e-18 2.7e-18 1 0 PPP1R11 6992 broad.mit.edu 37 6 30035206 30035206 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:30035206G>A uc003npb.2 + 1 275 c.19G>A c.(19-21)GGG>AGG p.G7R PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA NM_021959 NP_068778 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) 7 soluble fraction protein binding|protein phosphatase inhibitor activity ovary(1)|lung(1)|skin(1) 3 GGCAGGGGCTGGGCTGAGCGA 0.612 NA 27 100 0 0 0 0 TRIM39 56658 broad.mit.edu 37 6 30309588 30309588 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:30309588C>T uc010jrz.2 + 9 1421 c.1109C>T c.(1108-1110)CCT>CTT p.P370L TRIM39_uc003npz.2_Missense_Mutation_p.P340L|TRIM39_uc003nqb.2_Missense_Mutation_p.P340L|TRIM39_uc003nqc.2_Missense_Mutation_p.P340L|TRIM39_uc010jsa.1_Missense_Mutation_p.P340L NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 370 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 CGGGATCTCCCTGACACACCA 0.572 NA 15 40 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38754683 38754683 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:38754683G>A uc003ooe.1 + 16 2487 c.1887G>A c.(1885-1887)TTG>TTA p.L629L 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 CAAAGAGATTGCTAAAATTGG 0.308 NA 13 52 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39353414 39353414 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:39353414T>C uc003oot.2 - 16 1940 c.1845A>G c.(1843-1845)ATA>ATG p.I615M KIF6_uc003oos.2_Missense_Mutation_p.I66M|KIF6_uc010jwz.1_Translation_Start_Site|KIF6_uc010jxa.1_Missense_Mutation_p.I406M|KIF6_uc011dua.1_Intron|KIF6_uc010jxb.1_Missense_Mutation_p.I559M NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 615 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 CTACTTGCTGTATATGCCGCT 0.448 NA 15 74 0 0 0 0 UBR2 23304 broad.mit.edu 37 6 42613293 42613293 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:42613293G>A uc011dur.1 + 21 2374 c.2374G>A c.(2374-2376)GCT>ACT p.A792T UBR2_uc011dus.1_Missense_Mutation_p.A437T|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 792 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CAAGCCTATGGCTCATAGTGA 0.373 NA 28 82 0 0 0 0 C6orf138 442213 broad.mit.edu 37 6 47846286 47846286 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:47846286G>T uc011dwm.1 - 3 2328 c.2243C>A c.(2242-2244)TCT>TAT p.S748Y C6orf138_uc011dwn.1_Missense_Mutation_p.S512Y NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 765 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AATAAGAAAAGAAGTAACATT 0.443 NA 12 36 0.000978159 0.00108025 1 0 PGK2 5232 broad.mit.edu 37 6 49754394 49754394 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:49754394T>C uc003ozu.2 - 1 614 c.507A>G c.(505-507)GCA>GCG p.A169A NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 169 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) GAGCGCGGTGTGCAGTGCCAA 0.453 NA 28 73 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51927386 51927386 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:51927386T>A uc003pah.1 - 14 1325 c.1049A>T c.(1048-1050)TAC>TTC p.Y350F PKHD1_uc003pai.2_Missense_Mutation_p.Y350F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 350 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTGCCACCTGTACCCTGGGGT 0.483 NA 49 118 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57012801 57012801 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:57012801C>T uc003pdm.1 + 10 2142 c.1918C>T c.(1918-1920)CAC>TAC p.H640Y ZNF451_uc003pdl.2_Missense_Mutation_p.H640Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H640Y|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H640Y NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 640 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAGCTGTGCTCACTGCAGAAA 0.398 NA 31 105 0 0 0 0 BAI3 577 broad.mit.edu 37 6 69653751 69653751 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:69653751T>C uc003pev.3 + 6 1508 c.1060T>C c.(1060-1062)TGG>CGG p.W354R BAI3_uc010kak.2_Missense_Mutation_p.W354R NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 354 Extracellular (Potential).|TSP type-1 2. 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) ATGGTCACCATGGAGTTTATG 0.413 NA 51 148 0 0 0 0 BAI3 577 broad.mit.edu 37 6 69703837 69703837 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:69703837G>T uc003pev.3 + 11 2360 c.1912G>T c.(1912-1914)GCA>TCA p.A638S BAI3_uc010kak.2_Missense_Mutation_p.A638S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 638 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) TTACATCCCTGCATCTGATGG 0.453 NA 24 68 4.4e-07 5.48e-07 1 0 MYO6 4646 broad.mit.edu 37 6 76624544 76624544 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:76624544G>T uc003pih.1 + 35 3952 c.3673G>T c.(3673-3675)GAG>TAG p.E1225* MYO6_uc003pii.1_Nonsense_Mutation_p.E1202*|MYO6_uc003pij.1_Nonsense_Mutation_p.E173* NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 1234 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GGACGACATGGAGATGTGTGA 0.448 NA 11 60 2.81e-09 3.7e-09 1 0 IMPG1 3617 broad.mit.edu 37 6 76715168 76715168 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:76715168G>T uc003pik.1 - 10 1101 c.971C>A c.(970-972)TCT>TAT p.S324Y NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 324 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GGAATCAAAAGACAGGAGGTC 0.453 NA 26 108 1.18e-14 1.68e-14 1 0 HTR1E 3354 broad.mit.edu 37 6 87725859 87725859 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:87725859C>A uc003pli.2 + 2 1510 c.807C>A c.(805-807)GAC>GAA p.D269E NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 269 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCCCCTTCGACAATGATCTAG 0.502 NA 67 218 4.67e-28 7.24e-28 1 0 GABRR1 2569 broad.mit.edu 37 6 89888653 89888653 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:89888653G>T uc003pna.2 - 10 1731 c.1276C>A c.(1276-1278)CAG>AAG p.Q426K GABRR1_uc011dzv.1_Missense_Mutation_p.Q403K NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 426 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGGGTCAGCTGCACCATCATC 0.542 NA 29 155 8.17e-17 1.19e-16 1 0 MDN1 23195 broad.mit.edu 37 6 90383950 90383950 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90383950G>A uc003pnn.1 - 79 13236 c.13120C>T c.(13120-13122)CGG>TGG p.R4374W NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4374 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCTGTTTCCGCATCCGGCAA 0.463 NA 21 72 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90402372 90402372 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90402372C>A uc003pnn.1 - 63 10493 c.10377G>T c.(10375-10377)TTG>TTT p.L3459F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3459 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCACCGAGCACAAAGTGTCTG 0.587 NA 39 156 1.05e-18 1.54e-18 1 0 MDN1 23195 broad.mit.edu 37 6 90402456 90402456 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90402456C>T uc003pnn.1 - 63 10409 c.10293G>A c.(10291-10293)AGG>AGA p.R3431R NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3431 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGGTCCCCAGCCTGTCTGCAC 0.582 NA 29 71 0 0 0 0 RFX6 222546 broad.mit.edu 37 6 117215197 117215197 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:117215197A>T uc003pxm.2 + 5 677 c.614A>T c.(613-615)CAC>CTC p.H205L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 205 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GCATATTACCACTCCGTTTAT 0.393 NA 38 140 0 0 0 0 RSPO3 84870 broad.mit.edu 37 6 127471641 127471641 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:127471641A>G uc003qar.2 + 3 650 c.360A>G c.(358-360)TTA>TTG p.L120L RSPO3_uc003qas.1_Silent_p.L120L NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 120 FU 2. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) GATTTTACTTACACCTTGGAA 0.368 NA 17 112 0 0 0 0 C6orf174 387104 broad.mit.edu 37 6 127796902 127796902 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:127796902C>T uc003qbd.2 - 6 3134 c.2269G>A c.(2269-2271)GCG>ACG p.A757T C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 757 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TTCTTGCCCGCGTCGCTCTCG 0.697 NA 28 90 0 0 0 0 THEMIS 387357 broad.mit.edu 37 6 128134032 128134032 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:128134032G>A uc003qbi.2 - 5 2073 c.1754C>T c.(1753-1755)CCC>CTC p.P585L THEMIS_uc010kfa.2_Missense_Mutation_p.P488L|THEMIS_uc011ebt.1_Missense_Mutation_p.P585L|THEMIS_uc010kfb.2_Missense_Mutation_p.P550L NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 585 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CCTTACCTTGGGAGACTTGGG 0.463 NA 82 276 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129371138 129371138 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:129371138C>A uc003qbn.2 + 2 293 c.188C>A c.(187-189)CCT>CAT p.P63H LAMA2_uc003qbo.2_Missense_Mutation_p.P63H NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 63 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAAAAAGGACCTGAAATGTAC 0.448 NA 28 82 1.13e-08 1.47e-08 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130381238 130381238 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130381238G>T uc003qbt.2 + 10 987 c.817G>T c.(817-819)GTG>TTG p.V273L L3MBTL3_uc003qbu.2_Missense_Mutation_p.V248L NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 273 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ATTAGAAGGCGTGGATCCTGA 0.398 NA 18 64 5.35e-11 7.32e-11 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130392248 130392248 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130392248A>G uc003qbt.2 + 13 1390 c.1220A>G c.(1219-1221)AAC>AGC p.N407S L3MBTL3_uc003qbu.2_Missense_Mutation_p.N382S NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 407 MBT 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CATTTTGACAACTGGGATGAG 0.313 NA 64 223 0 0 0 0 SAMD3 154075 broad.mit.edu 37 6 130535556 130535556 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130535556C>G uc003qbv.2 - 5 521 c.195G>C c.(193-195)CAG>CAC p.Q65H SAMD3_uc003qbx.2_Missense_Mutation_p.Q65H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q65H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q65H|SAMD3_uc003qby.2_Missense_Mutation_p.Q65H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q24H NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 65 SAM. ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CTTGAGTGTTCTGCTTGTATT 0.448 NA 65 202 0 0 0 0 CTGF 1490 broad.mit.edu 37 6 132271472 132271472 + Silent SNP G G A rs139453995 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:132271472G>A uc003qcz.2 - 3 707 c.501C>T c.(499-501)GAC>GAT p.D167D NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 167 VWFC. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CCTTGGGCTCGTCACACACCC 0.632 NA OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 160 0 0 0 0 TAAR1 134864 broad.mit.edu 37 6 132966320 132966320 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:132966320G>T uc003qdm.1 - 1 823 c.823C>A c.(823-825)CCT>ACT p.P275T NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 275 Extracellular (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TGAAGAAAAGGGTCCATGACT 0.368 NA 21 95 1.5e-11 2.07e-11 1 0 STXBP5 134957 broad.mit.edu 37 6 147655334 147655334 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:147655334G>A uc003qlz.2 + 19 2283 c.2122G>A c.(2122-2124)GAT>AAT p.D708N STXBP5_uc010khz.1_Missense_Mutation_p.D708N|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.D379N|STXBP5_uc003qma.2_Missense_Mutation_p.D55N NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 708 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TGTTCCAGAGGATCGCTGCAA 0.328 NA 26 76 0 0 0 0 RAET1G 353091 broad.mit.edu 37 6 150240901 150240901 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:150240901C>T uc010kii.1 - 2 205 c.137G>A c.(136-138)GGA>GAA p.G46E RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 46 MHC class I alpha-1 like.|Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CCACCGTGGTCCAGGTCTGAA 0.552 NA 7 202 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152708424 152708424 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:152708424T>A uc010kiw.2 - 54 8872 c.8270A>T c.(8269-8271)GAA>GTA p.E2757V SYNE1_uc003qot.3_Missense_Mutation_p.E2764V|SYNE1_uc003qou.3_Missense_Mutation_p.E2757V|SYNE1_uc010kjb.1_Missense_Mutation_p.E2740V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2757 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAAGGGATGTTCTATTTTTTG 0.458 NA HNSCC(10;0.0054) 41 145 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155450864 155450864 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:155450864G>T uc003qqb.2 + 6 1780 c.507G>T c.(505-507)CTG>CTT p.L169L TIAM2_uc003qqe.2_Silent_p.L169L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 169 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGGGGAAGCTGGATGGGTGTT 0.587 NA 17 68 2.39e-15 3.43e-15 1 0 FNDC1 84624 broad.mit.edu 37 6 159660563 159660563 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:159660563C>A uc010kjv.2 + 14 4395 c.4195C>A c.(4195-4197)CCC>ACC p.P1399T FNDC1_uc010kjw.1_Missense_Mutation_p.P1284T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1399 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAAGGGACCCCCGTGGTGAG 0.483 NA 3 11 0.004672 0.00498285 1 0 SMOC2 64094 broad.mit.edu 37 6 169064781 169064781 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:169064781C>T uc003qws.1 + 12 1333 c.1313C>T c.(1312-1314)TCT>TTT p.S438F SMOC2_uc003qwr.1_Missense_Mutation_p.S449F|SMOC2_uc011egu.1_Missense_Mutation_p.S115F NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 438 signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GAAAGTACGTCTAATAGACAG 0.294 NA 18 55 0 0 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6838029 6838029 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:6838029A>G uc003sqw.1 + 21 2739 c.2468A>G c.(2467-2469)AAG>AGG p.K823R RSPH10B2_uc010ktk.1_Missense_Mutation_p.K823R|RSPH10B2_uc010ktl.1_RNA NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 823 ovary(1)|pancreas(1)|skin(1) 3 GAAGAGGCCAAGAGACATGAC 0.483 NA 18 125 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11416278 11416278 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:11416278C>G uc003ssf.3 - 26 5060 c.4808G>C c.(4807-4809)AGA>ACA p.R1603T uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.R107T NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1603 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGTCTTTAGTCTCCCATCTAA 0.353 NA HNSCC(18;0.044) 4 8 0 0 0 0 TMEM195 392636 broad.mit.edu 37 7 15430298 15430298 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:15430298G>C uc003stb.1 - 8 990 c.820C>G c.(820-822)CAG>GAG p.Q274E NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 274 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 TATGTTACCTGCACTTTGATT 0.269 NA 30 136 0 0 0 0 TMEM195 392636 broad.mit.edu 37 7 15430330 15430330 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:15430330T>C uc003stb.1 - 8 958 c.788A>G c.(787-789)CAT>CGT p.H263R NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 263 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 ATTAATGGGATGTGTTAAGCC 0.294 NA 35 153 0 0 0 0 ABCB5 340273 broad.mit.edu 37 7 20762764 20762764 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:20762764C>T uc003suw.3 + 12 1758 c.1212C>T c.(1210-1212)GCC>GCT p.A404A ABCB5_uc010kuh.2_Silent_p.A849A|ABCB5_uc003sux.1_Silent_p.A27A NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 404 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAGTACTTGCCGTGACAGGAA 0.388 NA 33 94 0 0 0 0 CHN2 1124 broad.mit.edu 37 7 29539573 29539573 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:29539573G>T uc003szz.2 + 9 1267 c.830G>T c.(829-831)TGT>TTT p.C277F CHN2_uc011jzs.1_Missense_Mutation_p.C352F|CHN2_uc010kva.2_Missense_Mutation_p.C47F|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.C242F|CHN2_uc011jzt.1_Missense_Mutation_p.C290F|CHN2_uc010kvd.2_Missense_Mutation_p.C133F|CHN2_uc011jzu.1_Missense_Mutation_p.C262F|CHN2_uc010kvg.2_Missense_Mutation_p.C141F|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.C141F|CHN2_uc010kve.2_Missense_Mutation_p.C141F|CHN2_uc003taa.2_Missense_Mutation_p.C141F|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.C96F|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.C96F|CHN2_uc011jzv.1_Missense_Mutation_p.C70F NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 277 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 GTGTACTGTTGTGACCTCACA 0.443 NA 13 46 2.27e-07 2.87e-07 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378419 31378419 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:31378419C>T uc003tch.2 - 2 817 c.464G>A c.(463-465)AGA>AAA p.R155K NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 155 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 CAGATCTGGTCTCTTGCCGAT 0.458 NA 19 88 0 0 0 0 PSMA2 5683 broad.mit.edu 37 7 42966149 42966149 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:42966149C>A uc003thy.2 - 3 285 c.237G>T c.(235-237)ATG>ATT p.M79I C7orf25_uc010kxr.2_Intron|PSMA2_uc010kxt.2_Missense_Mutation_p.M1I|PSMA2_uc003thz.1_Missense_Mutation_p.M1I NM_002787 NP_002778 P25787 PSA2_HUMAN proteasome subunit alpha type 2 79 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity large_intestine(2)|ovary(1) 3 AATCGGGGCCCATGCCACTGT 0.368 NA 26 71 2.49e-11 3.42e-11 1 0 MYO1G 64005 broad.mit.edu 37 7 45004594 45004594 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:45004594G>A uc003tmh.2 - 18 2620 c.2476C>T c.(2476-2478)CGT>TGT p.R826C MYO1G_uc003tmf.2_Missense_Mutation_p.R269C|MYO1G_uc003tmg.2_Missense_Mutation_p.R588C|MYO1G_uc010kym.2_Missense_Mutation_p.R711C NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 826 R->A: Reduced membrane association. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CAGTCCTGACGAAGCCCTTGC 0.677 NA 31 98 0 0 0 0 UPP1 7378 broad.mit.edu 37 7 48141563 48141563 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:48141563C>T uc003toj.2 + 6 834 c.305C>T c.(304-306)CCG>CTG p.P102L UPP1_uc003tok.2_Missense_Mutation_p.P102L|UPP1_uc003tol.2_Missense_Mutation_p.P102L|UPP1_uc011kcg.1_Missense_Mutation_p.P102L|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 102 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 AAAGTAGGACCGGTGCTGTCT 0.572 NA 28 64 0 0 0 0 WBSCR17 64409 broad.mit.edu 37 7 70881051 70881051 + Splice_Site SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:70881051T>C uc003tvy.2 + 4 764 c.764_splice c.e4+2 p.W255_splice WBSCR17_uc003tvz.2_Splice_Site NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CGCTGGCTGGTAGGTCATGAG 0.582 NA 8 78 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82579581 82579581 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:82579581C>A uc003uhx.2 - 6 10612 c.10323G>T c.(10321-10323)GTG>GTT p.V3441V PCLO_uc003uhv.2_Silent_p.V3441V|PCLO_uc010lec.2_Silent_p.V406V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3372 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CACCACTGTCCACTATCTTTT 0.433 NA 65 81 9.41e-28 1.45e-27 1 0 ZNF804B 219578 broad.mit.edu 37 7 88963725 88963725 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:88963725C>A uc011khi.1 + 4 1967 c.1429C>A c.(1429-1431)CCA>ACA p.P477T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 477 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGGCTGCAACCCACTGTATTT 0.428 NA HNSCC(36;0.09) 56 43 4.33e-22 6.54e-22 1 0 AKAP9 10142 broad.mit.edu 37 7 91730192 91730192 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:91730192G>C uc003ulg.2 + 45 11144 c.10919G>C c.(10918-10920)GGT>GCT p.G3640A AKAP9_uc003ulf.2_Missense_Mutation_p.G3632A|AKAP9_uc003uli.2_Missense_Mutation_p.G3263A|AKAP9_uc003ulj.2_Missense_Mutation_p.G1410A|AKAP9_uc003ull.2_Missense_Mutation_p.G536A NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3644 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCATTGAATGGTGGTGCCAAC 0.393 NA T BRAF papillary thyroid 109 128 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94049949 94049949 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:94049949G>T uc003ung.1 + 37 2755 c.2284G>T c.(2284-2286)GCT>TCT p.A762S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 762 Missing (in OI2A). 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) CGTTGGAGCTGCTGGCCCAGC 0.512 NA HNSCC(75;0.22) 4 8 0.00909568 0.00953133 1 0 PON1 5444 broad.mit.edu 37 7 94931576 94931576 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:94931576A>T uc003uns.2 - 8 947 c.850T>A c.(850-852)TGC>AGC p.C284S PON1_uc011kih.1_Missense_Mutation_p.C284S NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 284 C->A,S: No loss of activity. aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TTGGGATGGCATCCAACCCAA 0.388 NA 58 59 0 0 0 0 DLX5 1749 broad.mit.edu 37 7 96650323 96650324 + Missense_Mutation DNP CG CG AA TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:96650323_96650324CG>AA uc003uon.2 - 3 802_803 c.594_595CG>TT c.(592-597)AACGGG>AATTGG p.G199W NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 199 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGCATCTCCCCGTTTTTCATGA 0.574 NA 16 96 0 0 0 0 LMTK2 22853 broad.mit.edu 37 7 97822447 97822447 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:97822447T>C uc003upd.1 + 11 2963 c.2670T>C c.(2668-2670)AGT>AGC p.S890S NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 890 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTGGCGAGAGTGAGGAGACCC 0.557 NA 51 50 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100675651 100675651 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:100675651G>T uc003uxp.1 + 3 1007 c.954G>T c.(952-954)ACG>ACT p.T318T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 318 Extracellular (Potential).|Ser-rich.|3.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTACAACGGCTGAAGGCA 0.502 NA 73 354 9.56e-25 1.46e-24 1 0 CUX1 1523 broad.mit.edu 37 7 101892287 101892287 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:101892287G>A uc003uyx.3 + 24 4521 c.4483G>A c.(4483-4485)GCC>ACC p.A1495T CUX1_uc003uys.3_Missense_Mutation_p.A1506T|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 1495 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GGAGAAGGCCGCCAGCCGGGA 0.726 NA 6 9 0 0 0 0 RINT1 60561 broad.mit.edu 37 7 105190713 105190713 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:105190713A>G uc003vda.1 + 9 1344 c.1113A>G c.(1111-1113)GAA>GAG p.E371E RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 371 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 TTTAGCTTGAATTTTCTCGGG 0.363 NA 166 188 0 0 0 0 NAMPT 10135 broad.mit.edu 37 7 105909600 105909600 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:105909600C>A uc003vdq.2 - 5 914 c.606G>T c.(604-606)GAG>GAT p.E202D NAMPT_uc003vdr.1_Missense_Mutation_p.E202D|NAMPT_uc011klu.1_Missense_Mutation_p.E115D NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 202 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 AGTTACTTACCTCTTGGGAAG 0.358 NA 55 67 3.94e-18 5.78e-18 1 0 HBP1 26959 broad.mit.edu 37 7 106822945 106822945 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:106822945A>G uc003vdy.2 + 3 483 c.297A>G c.(295-297)CCA>CCG p.P99P HBP1_uc011klv.1_Silent_p.P109P|HBP1_uc003vdz.2_Silent_p.P99P|HBP1_uc003vea.2_Silent_p.P99P|HBP1_uc003veb.1_Silent_p.P99P NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 99 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 CAGACATACCAGAAACTACTT 0.423 NA 49 71 0 0 0 0 WNT2 7472 broad.mit.edu 37 7 116955239 116955239 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:116955239A>T uc003viz.2 - 3 774 c.474T>A c.(472-474)AGT>AGA p.S158R WNT2_uc003vja.2_Missense_Mutation_p.S62R NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 158 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CAATGTTATCACTGCAGCCAC 0.433 NA 80 109 0 0 0 0 IQUB 154865 broad.mit.edu 37 7 123104887 123104887 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:123104887C>A uc003vkn.2 - 10 2335 c.1758G>T c.(1756-1758)AAG>AAT p.K586N IQUB_uc003vko.2_Missense_Mutation_p.K586N|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.K586N NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 586 ovary(3)|large_intestine(1) 4 TGTAGAATACCTTAAGGTATT 0.303 NA 29 140 2.13e-12 2.96e-12 1 0 IQUB 154865 broad.mit.edu 37 7 123152340 123152340 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:123152340C>A uc003vkn.2 - 2 632 c.55G>T c.(55-57)GAG>TAG p.E19* IQUB_uc003vko.2_Nonsense_Mutation_p.E19*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.E19*|IQUB_uc003vkq.2_Nonsense_Mutation_p.E19* NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 19 ovary(3)|large_intestine(1) 4 TCATCACTCTCTTCTGTTGAA 0.348 NA 25 147 1.97e-08 2.56e-08 1 0 POT1 25913 broad.mit.edu 37 7 124499083 124499083 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:124499083G>A uc003vlm.2 - 9 1231 c.630C>T c.(628-630)ATC>ATT p.I210I POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.I79I|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 210 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 GTAGCCGATGGATGTGACTTA 0.393 NA 60 59 0 0 0 0 KLF14 136259 broad.mit.edu 37 7 130418350 130418350 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:130418350G>C uc003vqk.1 - 1 511 c.511C>G c.(511-513)CTA>GTA p.L171V NM_138693 NP_619638 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(18;0.0435) CCTGCCCCTAGGGCCCCTCCA 0.741 NA 4 10 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193309 132193309 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:132193309G>T uc003vra.3 - 2 373 c.144C>A c.(142-144)GCC>GCA p.A48A PLXNA4_uc003vrc.2_Silent_p.A48A|PLXNA4_uc003vrb.2_Silent_p.A48A NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 48 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TGAAACCCTCGGCGGGCTCTC 0.587 NA 18 90 9.17e-09 1.2e-08 1 0 TRIM24 8805 broad.mit.edu 37 7 138261116 138261116 + Splice_Site SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:138261116A>T uc003vuc.2 + 13 2230 c.2015_splice c.e13-2 p.G672_splice TRIM24_uc003vub.2_Splice_Site_p.G638_splice NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 CCCCCTCCTCAGGACCTGTTA 0.423 NA 25 130 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603874 138603874 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:138603874C>A uc011kql.1 - 2 547 c.498G>T c.(496-498)TGG>TGT p.W166C KIAA1549_uc003vuk.3_Missense_Mutation_p.W116C|KIAA1549_uc011kqj.1_Missense_Mutation_p.W166C NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 166 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GTGGAGTGGTCCAGTGAGTAT 0.498 NA O BRAF pilocytic astrocytoma 156 175 7.08e-60 1.13e-59 1 0 MGAM 8972 broad.mit.edu 37 7 141754672 141754672 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:141754672G>T uc003vwy.2 + 27 3332 c.3278G>T c.(3277-3279)GGG>GTG p.G1093V NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1093 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATCCATTTGGGATTGAAATT 0.493 NA 67 104 1.78e-30 2.76e-30 1 0 MGAM 8972 broad.mit.edu 37 7 141796147 141796147 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:141796147G>A uc003vwy.2 + 42 4990 c.4936G>A c.(4936-4938)GTG>ATG p.V1646M NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1646 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTCAGACCAGGTGACATGGGA 0.572 NA 47 40 0 0 0 0 C7orf34 135927 broad.mit.edu 37 7 142636723 142636723 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:142636723C>T uc003wca.2 + 1 121 c.80C>T c.(79-81)CCT>CTT p.P27L NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 2 extracellular region 0 Melanoma(164;0.059) AGGTCCATGCCTCCCCTGGCC 0.662 NA 14 60 0 0 0 0 KRBA1 84626 broad.mit.edu 37 7 149420905 149420905 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:149420905A>T uc003wfz.2 + 8 1252 c.853A>T c.(853-855)AGG>TGG p.R285W KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 285 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCCAGGACAGGCATCCCAG 0.587 NA 13 80 0 0 0 0 ZNF467 168544 broad.mit.edu 37 7 149462101 149462101 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:149462101C>T uc003wgd.2 - 5 1631 c.1490G>A c.(1489-1491)AGC>AAC p.S497N ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 497 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGACTTGCGGCTGAAGCGGCG 0.716 NA 8 19 0 0 0 0 NOS3 4846 broad.mit.edu 37 7 150696317 150696317 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:150696317C>A uc003wif.2 + 9 1292 c.996C>A c.(994-996)GCC>GCA p.A332A NOS3_uc011kuy.1_Silent_p.A126A|NOS3_uc011kuz.1_Silent_p.A332A|NOS3_uc011kva.1_Silent_p.A332A|NOS3_uc011kvb.1_Silent_p.A332A NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 332 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCTGGTACGCCCTCCCGGCAG 0.647 NA 130 124 4.07e-59 6.49e-59 1 0 AGAP3 116988 broad.mit.edu 37 7 150817174 150817174 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:150817174C>G uc003wjg.1 + 8 1073 c.1070C>G c.(1069-1071)GCC>GGC p.A357G AGAP3_uc003wje.1_Missense_Mutation_p.A129G|AGAP3_uc003wjf.1_Missense_Mutation_p.A357G|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Missense_Mutation_p.A537G|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 321 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 ACCATCGCTGCCTCCTCCACC 0.667 NA 3 64 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151879345 151879345 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:151879345C>G uc003wla.2 - 36 5819 c.5600G>C c.(5599-5601)AGT>ACT p.S1867T MLL3_uc003wkz.2_Missense_Mutation_p.S928T NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1867 Pro-rich. 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) CTGAGAAAGACTATCCTGGAT 0.522 NA N medulloblastoma 27 193 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154681206 154681206 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:154681206A>G uc003wlk.2 + 25 2546 c.2417A>G c.(2416-2418)CAA>CGA p.Q806R DPP6_uc003wli.2_Missense_Mutation_p.Q742R|DPP6_uc003wlm.2_Missense_Mutation_p.Q744R|DPP6_uc011kvq.1_Missense_Mutation_p.Q699R NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 806 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTCATTACACAACTAATTAGG 0.378 NA 9 15 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513941 1513941 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:1513941C>T uc003wpl.2 + 3 1180 c.1083C>T c.(1081-1083)GCC>GCT p.A361A DLGAP2_uc003wpm.2_Silent_p.A361A NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 440 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACATTAAAGCCATGGGGGACG 0.572 NA 4 19 0 0 0 0 DEFB4A 1673 broad.mit.edu 37 8 7752250 7752250 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:7752250C>A uc003wsd.2 + 1 52 c.16C>A c.(16-18)CTC>ATC p.L6I NM_004942 NP_004933 O15263 DFB4A_HUMAN defensin, beta 4 precursor 6 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response extracellular region 0 GGTCTTGTATCTCCTCTTCTC 0.527 NA 7 111 0.000673444 0.000745763 1 0 DLC1 10395 broad.mit.edu 37 8 13357323 13357323 + Silent SNP G G A rs146650078 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:13357323G>A uc003wwm.2 - 2 702 c.258C>T c.(256-258)GAC>GAT p.D86D DLC1_uc003wwn.2_Silent_p.D86D|DLC1_uc011kxy.1_Silent_p.D86D NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 86 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 TGTCATTTTCGTCCACATCCT 0.443 NA 9 362 0 0 0 0 KIF13B 23303 broad.mit.edu 37 8 29025078 29025078 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:29025078T>A uc003xhh.3 - 11 1029 c.970A>T c.(970-972)ACC>TCC p.T324S KIF13B_uc003xhj.2_Missense_Mutation_p.T221S|KIF13B_uc010lvf.1_Missense_Mutation_p.T260S NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 324 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACCATGGCGGTCTTGCTGTTA 0.428 NA 50 66 0 0 0 0 FAM150A 389658 broad.mit.edu 37 8 53451006 53451006 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:53451006G>C uc003xrd.2 - 4 592 c.387C>G c.(385-387)ACC>ACG p.T129T FAM150A_uc011ldt.1_Intron NM_207413 NP_997296 Q6UXT8 F150A_HUMAN hypothetical protein LOC389658 precursor 129 extracellular region 0 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) AGTTTTGCTAGGTCTGGGAGC 0.264 NA 15 25 0 0 0 0 OPRK1 4986 broad.mit.edu 37 8 54142037 54142037 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:54142037G>T uc003xrh.1 - 3 1338 c.963C>A c.(961-963)ACC>ACA p.T321T OPRK1_uc003xri.1_Silent_p.T321T|OPRK1_uc010lyc.1_Silent_p.T232T NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 321 Helical; Name=7; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GGCTACTGTTGGTATAGCCTA 0.517 NA 14 15 7.93e-07 9.81e-07 1 0 RP1 6101 broad.mit.edu 37 8 55542575 55542575 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:55542575G>T uc003xsd.1 + 4 6281 c.6133G>T c.(6133-6135)GGT>TGT p.G2045C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2045 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTAGTTGTGGGTAATGTGGA 0.353 NA 25 53 2.28e-19 3.39e-19 1 0 PLAG1 5324 broad.mit.edu 37 8 57079634 57079634 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:57079634C>G uc003xsq.3 - 3 1122 c.671G>C c.(670-672)CGA>CCA p.R224P PLAG1_uc003xsr.3_Missense_Mutation_p.R224P|PLAG1_uc010lyi.2_Missense_Mutation_p.R224P|PLAG1_uc010lyj.2_Missense_Mutation_p.R142P NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 224 Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTGATCCTTTCGCCCAAATCT 0.478 NA T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 36 46 0 0 0 0 TRIM55 84675 broad.mit.edu 37 8 67039550 67039550 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:67039550C>G uc003xvv.2 + 1 273 c.47C>G c.(46-48)ACC>AGC p.T16S TRIM55_uc003xvu.2_Missense_Mutation_p.T16S|TRIM55_uc003xvw.2_Missense_Mutation_p.T16S|TRIM55_uc003xvx.2_Missense_Mutation_p.T16S NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 16 RING-type. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAGCAGCAGACCATGGATAAC 0.498 NA 41 74 0 0 0 0 E2F5 1875 broad.mit.edu 37 8 86114380 86114380 + Splice_Site SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:86114380A>T uc003ycz.3 + 2 272 c.235_splice c.e2-2 p.A79_splice E2F5_uc003yda.3_Splice_Site_p.A79_splice|E2F5_uc010mab.2_Splice_Site NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 TTTCCTGAACAGGCTGCTGAT 0.348 NA 5 20 0 0 0 0 CDH17 1015 broad.mit.edu 37 8 95183180 95183180 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:95183180A>C uc003ygh.2 - 8 942 c.817T>G c.(817-819)TTA>GTA p.L273V CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.L273V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 273 Extracellular (Potential).|Cadherin 3. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGTCAACTAAGGAATATTGT 0.453 NA 19 52 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104897854 104897854 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:104897854C>T uc003yls.2 + 2 602 c.361C>T c.(361-363)CCA>TCA p.P121S RIMS2_uc003ylp.2_Missense_Mutation_p.P343S|RIMS2_uc003ylw.2_Missense_Mutation_p.P151S|RIMS2_uc003ylq.2_Missense_Mutation_p.P151S|RIMS2_uc003ylr.2_Missense_Mutation_p.P151S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 374 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCCCGTTATCCAGTAAAGCC 0.478 NA HNSCC(12;0.0054) 15 30 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105360964 105360964 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:105360964G>A uc003ylx.1 + 2 233 c.184G>A c.(184-186)GCT>ACT p.A62T NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 62 Helical; (Potential).|Poly-Ala. osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CATAGCGGCCGCTGCCTCCTG 0.507 NA 49 84 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113293570 113293570 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:113293570C>A uc003ynu.2 - 59 9500 c.9341G>T c.(9340-9342)TGT>TTT p.C3114F CSMD3_uc003yns.2_Missense_Mutation_p.C2316F|CSMD3_uc003ynt.2_Missense_Mutation_p.C3074F|CSMD3_uc011lhx.1_Missense_Mutation_p.C2945F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3114 Extracellular (Potential).|Sushi 23. 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 TGGGTTACCACACTGCACAGC 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 46 5.04e-11 6.9e-11 1 0 BAI1 575 broad.mit.edu 37 8 143623649 143623649 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:143623649A>T uc003ywm.2 + 27 4237 c.4054A>T c.(4054-4056)ACG>TCG p.T1352S NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1352 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCCACGGCCACGGCCACGCT 0.652 NA 20 23 0 0 0 0 TIGD5 84948 broad.mit.edu 37 8 144681057 144681057 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:144681057G>T uc003yyx.1 + 1 837 c.837G>T c.(835-837)CTG>CTT p.L279L EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 328 regulation of transcription, DNA-dependent chromosome, centromeric region DNA 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) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCCCGCTGCTGCGGGGCTGGT 0.697 NA 6 12 0.000157383 0.000180201 1 0 PLEC 5339 broad.mit.edu 37 8 145049407 145049407 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:145049407C>T uc003zaj.2 - 2 180 c.131G>A c.(130-132)GGT>GAT p.G44D PLEC_uc003zah.2_5'Flank NM_000445 NP_000436 Q15149 PLEC_HUMAN plectin isoform 1c Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCCAGCGCCACCCCCGCTGCG 0.657 NA OREG0019050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 50 0 0 0 0 FREM1 158326 broad.mit.edu 37 9 14812864 14812864 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:14812864C>G uc003zlm.2 - 16 3429 c.2839G>C c.(2839-2841)GAT>CAT p.D947H FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 947 CSPG 6. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GAGAACTGATCCACTGTGACT 0.488 NA 70 147 0 0 0 0 C9orf135 138255 broad.mit.edu 37 9 72459432 72459432 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:72459432G>T uc004ahl.2 + 2 218 c.153_splice c.e2-1 p.W51_splice C9orf135_uc011lrw.1_Intron|C9orf135_uc010moq.2_Intron|C9orf135_uc011lrx.1_Intron|C9orf135_uc010mop.2_Splice_Site_p.W51_splice NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 integral to membrane ovary(1) 1 TTTTTCTTAAGGCACCGTGAC 0.328 NA 23 82 3.29e-13 4.61e-13 1 0 TMEM2 23670 broad.mit.edu 37 9 74360468 74360468 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:74360468T>C uc011lsa.1 - 4 1040 c.500A>G c.(499-501)GAT>GGT p.D167G TMEM2_uc010mos.2_Missense_Mutation_p.D167G|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 167 G8. integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCTGGATCCATCTTTATTGTC 0.423 NA 27 98 0 0 0 0 C9orf41 138199 broad.mit.edu 37 9 77599914 77599914 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:77599914T>A uc004ajq.2 - 7 1190 c.1037A>T c.(1036-1038)TAC>TTC p.Y346F uc004ajp.2_Intron|C9orf41_uc011lsi.1_RNA NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 346 ovary(1)|skin(1) 2 TTCAAAGTGGTACAGCAGAGG 0.348 NA 26 69 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608996 84608996 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:84608996T>C uc004amn.2 + 4 3658 c.3611T>C c.(3610-3612)ATG>ACG p.M1204T NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1204 integral to membrane 0 AAAAATCAGATGTTGAGCCAG 0.393 NA 25 98 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84610013 84610013 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:84610013C>G uc004amn.2 + 4 4675 c.4628C>G c.(4627-4629)CCA>CGA p.P1543R NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1543 integral to membrane 0 CCAGCCGTCCCAACCAGTGCT 0.527 NA 5 26 0 0 0 0 OR13C5 138799 broad.mit.edu 37 9 107360955 107360955 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:107360955A>C uc011lvp.1 - 1 740 c.740T>G c.(739-741)GTG>GGG p.V247G NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 TGTTATCACCACAGTCAGACG 0.423 NA 23 77 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113261433 113261433 + Silent SNP C C T rs3737156 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:113261433C>T uc010mtz.2 - 7 1906 c.1569G>A c.(1567-1569)ACG>ACA p.T523T SVEP1_uc010mua.1_Silent_p.T523T|SVEP1_uc004beu.2_Silent_p.T523T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 523 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CATAGCAGATCGTCCCAAATT 0.488 NA 18 44 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118950444 118950444 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:118950444C>G uc004bjn.2 + 2 1808 c.1427C>G c.(1426-1428)CCT>CGT p.P476R PAPPA_uc011lxp.1_Missense_Mutation_p.P269R|PAPPA_uc011lxq.1_Missense_Mutation_p.P269R NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 476 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGCTGTGACCCTGAAATCACC 0.507 NA 13 44 0 0 0 0 C5 727 broad.mit.edu 37 9 123776180 123776180 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:123776180G>C uc004bkv.2 - 17 2258 c.2228C>G c.(2227-2229)TCT>TGT p.S743C C5_uc010mvm.1_Missense_Mutation_p.S743C NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 743 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCTTTATGAGAGATATTAGC 0.423 NA 42 125 0 0 0 0 MRRF 92399 broad.mit.edu 37 9 125084837 125084837 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:125084837G>A uc004bmb.2 + 7 845 c.730G>A c.(730-732)GAC>AAC p.D244N MRRF_uc004bmc.2_Missense_Mutation_p.M190I|MRRF_uc010mwa.2_Missense_Mutation_p.D244N|MRRF_uc011lyr.1_Missense_Mutation_p.D192N|MRRF_uc004bmd.2_Missense_Mutation_p.D244N|MRRF_uc004bme.2_RNA NM_138777 NP_620132 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor isoform 244 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 AATGGCCGATGACACAGTGGC 0.493 NA 7 33 0 0 0 0 GOLGA1 2800 broad.mit.edu 37 9 127670691 127670691 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:127670691T>C uc004bpc.2 - 12 1372 c.1030A>G c.(1030-1032)AGC>GGC p.S344G GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 344 Potential. Golgi cisterna membrane ovary(1) 1 TTAGCCTGGCTGCTTCTGGCT 0.463 NA 33 130 0 0 0 0 C9orf98 158067 broad.mit.edu 37 9 135602855 135602855 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:135602855T>A uc004cbu.1 - 12 1744 c.1188A>T c.(1186-1188)CCA>CCT p.P396P C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.P192P NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 396 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) CCCCAGTGACTGGATCAATTC 0.463 NA 34 113 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136597649 136597649 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:136597649C>T uc004cep.3 - 3 540 c.406G>A c.(406-408)GAG>AAG p.E136K SARDH_uc004ceo.2_Missense_Mutation_p.E136K|SARDH_uc011mdn.1_Missense_Mutation_p.E136K|SARDH_uc011mdo.1_5'UTR NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 136 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCCTCCAGCTCCCGGCTCACC 0.672 NA 29 139 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136599210 136599210 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:136599210G>C uc004cep.3 - 2 220 c.86C>G c.(85-87)TCC>TGC p.S29C SARDH_uc004ceo.2_Missense_Mutation_p.S29C|SARDH_uc011mdn.1_Missense_Mutation_p.S29C|SARDH_uc011mdo.1_Intron NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 29 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGCTGCGCTGGACAGGTTGCA 0.697 NA 8 35 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137653806 137653806 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:137653806G>C uc004cfe.2 + 19 2353 c.1971G>C c.(1969-1971)CCG>CCC p.P657P NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 657 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) CAGGACCTCCGGGAGACGATG 0.597 NA 23 81 0 0 0 0 CLIC3 9022 broad.mit.edu 37 9 139889998 139889998 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:139889998G>A uc004ckj.1 - 3 194 c.165C>T c.(163-165)GAC>GAT p.D55D NM_004669 NP_004660 O95833 CLIC3_HUMAN chloride intracellular channel 3 55 GST N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGGGGCGAAGTCCTTCAGCA 0.697 NA 13 64 0 0 0 0 PIGA 5277 broad.mit.edu 37 X 15349561 15349561 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:15349561C>G uc004cwr.2 - 2 592 c.492G>C c.(490-492)TCG>TCC p.S164S PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 164 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) TTGTAAGCACCGAGCTGACAT 0.443 NA 24 24 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414435 29414435 + Silent SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:29414435A>T uc004dby.2 + 4 931 c.423A>T c.(421-423)GGA>GGT p.G141G NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 141 Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 ATGACACTGGACTCTGCTATA 0.388 NA 35 26 0 0 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254123 30254123 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30254123G>T uc004dca.1 + 5 819 c.82G>T c.(82-84)GCT>TCT p.A28S NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 28 0 TCACCAGGGTGCTCAGATCAC 0.517 NA 16 23 1.15e-07 1.46e-07 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254946 30254946 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30254946C>G uc004dca.1 + 5 1642 c.905C>G c.(904-906)GCG>GGG p.A302G NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 302 MAGE. 0 GTCCCCAGTGCGTTCCAGTTC 0.502 NA 22 18 0 0 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269234 30269234 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30269234C>A uc004dcc.2 + 4 944 c.624C>A c.(622-624)ATC>ATA p.I208I MAGEB1_uc004dcd.2_Silent_p.I208I|MAGEB1_uc004dce.2_Silent_p.I208I NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 208 MAGE. 0 TGGGTGTGATCTTCTTAAAGG 0.493 NA 3 7 0.004672 0.00498285 1 0 CXorf22 170063 broad.mit.edu 37 X 35989850 35989850 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:35989850G>T uc004ddj.2 + 12 2177 c.2118G>T c.(2116-2118)AGG>AGT p.R706S CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 706 large_intestine(1)|lung(1)|ovary(1) 3 TAACCACCAGGGGTATAGCAT 0.418 NA 16 32 0.00316338 0.00341434 1 0 ZNF630 57232 broad.mit.edu 37 X 47919477 47919477 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:47919477G>C uc004div.3 - 5 606 c.354C>G c.(352-354)ATC>ATG p.I118M ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Translation_Start_Site NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 CAATATGCCAGATTTTTAAAA 0.373 NA 5 5 0 0 0 0 PJA1 64219 broad.mit.edu 37 X 68382107 68382107 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:68382107T>A uc004dxh.2 - 2 1261 c.975A>T c.(973-975)AAA>AAT p.K325N PJA1_uc011mpi.1_Missense_Mutation_p.K43N|PJA1_uc004dxg.2_Missense_Mutation_p.K137N|PJA1_uc004dxi.2_Missense_Mutation_p.K270N NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 325 zinc ion binding 0 TCGCTTCCCGTTTGTCTTCAG 0.552 NA 17 18 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70340889 70340889 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:70340889G>T uc004dyy.2 + 5 821 c.622G>T c.(622-624)GGG>TGG p.G208W MED12_uc011mpq.1_Missense_Mutation_p.G208W|MED12_uc004dyz.2_Missense_Mutation_p.G208W|MED12_uc004dza.2_Missense_Mutation_p.G55W NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 208 androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CTACCGGCCAGGGCCTGCAGG 0.532 NA 31 25 2.46e-21 3.7e-21 1 0 KIAA2022 340533 broad.mit.edu 37 X 73963450 73963450 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:73963450A>G uc004eby.2 - 3 1559 c.942T>C c.(940-942)TAT>TAC p.Y314Y NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 314 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GAAAGGATTCATATCGAATTT 0.418 NA 47 50 0 0 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004401 75004401 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:75004401G>T uc004ecj.1 - 1 671 c.486C>A c.(484-486)TTC>TTA p.F162L NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 162 MAGE 1. ovary(1)|skin(1) 2 CGGTGATCTGGAAACCCCGTT 0.527 NA 10 12 5.17e-11 7.07e-11 1 0 TBX22 50945 broad.mit.edu 37 X 79281194 79281194 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:79281194G>T uc010nmg.1 + 5 685 c.551G>T c.(550-552)TGC>TTC p.C184F TBX22_uc004edi.1_Missense_Mutation_p.C64F|TBX22_uc004edj.1_Missense_Mutation_p.C184F NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 184 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GACTCACCCTGCTCGGGAGAG 0.488 NA 15 22 6.72e-11 9.18e-11 1 0 PABPC5 140886 broad.mit.edu 37 X 90691137 90691137 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:90691137G>T uc004efg.2 + 2 1001 c.561G>T c.(559-561)GCG>GCT p.A187A PABPC5_uc004eff.1_Silent_p.A23A NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 187 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 AAGAGCGGGCGGCTGAGGTCA 0.493 NA 21 12 8.34e-07 1.03e-06 1 0 PABPC5 140886 broad.mit.edu 37 X 90691163 90691163 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:90691163C>A uc004efg.2 + 2 1027 c.587C>A c.(586-588)GCA>GAA p.A196E PABPC5_uc004eff.1_Missense_Mutation_p.A32E NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 196 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 AGGGATAGAGCAACTTTCACC 0.458 NA 20 22 1.56e-12 2.18e-12 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134249 91134249 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:91134249C>T uc004efk.1 + 2 3855 c.3010C>T c.(3010-3012)CCT>TCT p.P1004S PCDH11X_uc004efl.1_Missense_Mutation_p.P1004S|PCDH11X_uc004efo.1_Missense_Mutation_p.P1004S|PCDH11X_uc010nmv.1_Missense_Mutation_p.P1004S|PCDH11X_uc004efm.1_Missense_Mutation_p.P1004S|PCDH11X_uc004efn.1_Missense_Mutation_p.P1004S|PCDH11X_uc004efh.1_Missense_Mutation_p.P1004S|PCDH11X_uc004efj.1_Missense_Mutation_p.P1004S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1004 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTTCGAGGTACCTGTGTCCGT 0.423 NA 44 72 0 0 0 0 USP26 83844 broad.mit.edu 37 X 132162179 132162179 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:132162179C>G uc010nrm.1 - 6 540 c.70G>C c.(70-72)GAA>CAA p.E24Q USP26_uc011mvf.1_Missense_Mutation_p.E24Q NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 24 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) ATGAATGCTTCTTTTGACTTA 0.358 NA 37 37 0 0 0 0 DDX26B 203522 broad.mit.edu 37 X 134680705 134680705 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:134680705G>T uc004eyw.3 + 5 871 c.508G>T c.(508-510)GCC>TCC p.A170S NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 170 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTATTTGCCCTGGTGTT 0.468 NA 44 50 1.76e-25 2.7e-25 1 0 CDR1 1038 broad.mit.edu 37 X 139866414 139866414 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:139866414G>T uc004fbg.1 - 1 310 c.118C>A c.(118-120)CTG>ATG p.L40M uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 40 7.|23 X 6 AA approximate repeats. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ATGTCTTCCAGCCTACTTGTG 0.438 NA 50 52 4.45e-29 6.9e-29 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994309 140994309 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140994309C>A uc004fbt.2 + 4 1405 c.1119C>A c.(1117-1119)CTC>CTA p.L373L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 373 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTCCTCTCCAGATTCCTG 0.478 NA HNSCC(15;0.026) 90 104 7.49e-41 1.19e-40 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995492 140995492 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140995492G>C uc004fbt.2 + 4 2588 c.2302G>C c.(2302-2304)GAG>CAG p.E768Q MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 768 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAGTCCTCCTGAGGGGCCTGC 0.537 NA HNSCC(15;0.026) 98 122 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995643 140995643 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140995643C>A uc004fbt.2 + 4 2739 c.2453C>A c.(2452-2454)CCC>CAC p.P818H MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 818 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGCTCCTTCCCCTCCTCCACT 0.552 NA HNSCC(15;0.026) 106 124 1.52e-35 2.4e-35 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716466 142716466 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:142716466C>A uc004fbx.2 - 2 2835 c.2459G>T c.(2458-2460)AGT>ATT p.S820I SLITRK4_uc004fby.2_Missense_Mutation_p.S820I NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 820 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GTCAGGGGAACTCTGCAGTTT 0.393 NA 45 42 3.86e-14 5.48e-14 1 0 SLITRK4 139065 broad.mit.edu 37 X 142717845 142717845 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:142717845G>T uc004fbx.2 - 2 1456 c.1080C>A c.(1078-1080)AAC>AAA p.N360K SLITRK4_uc004fby.2_Missense_Mutation_p.N360K NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 360 Extracellular (Potential).|LRRNT. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCTCTTGGCAGTTCACACTTA 0.458 NA 71 67 1.35e-36 2.12e-36 1 0 SPANXN1 494118 broad.mit.edu 37 X 144337280 144337280 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:144337280C>A uc004fcb.2 + 2 165 c.165C>A c.(163-165)TGC>TGA p.C55* NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 55 0 Acute lymphoblastic leukemia(192;6.56e-05) TAGCGTTTTGCTACAGGAAAG 0.433 NA 39 32 1.42e-22 2.15e-22 1 0 L1CAM 3897 broad.mit.edu 37 X 153134316 153134316 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:153134316C>A uc004fjb.2 - 11 1467 c.1359G>T c.(1357-1359)GCG>GCT p.A453A L1CAM_uc004fjc.2_Silent_p.A453A|L1CAM_uc010nuo.2_Silent_p.A448A|L1CAM_uc004fjd.1_Silent_p.A267A NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 453 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGCACAGGCGCTCCGAAGG 0.632 NA 46 48 2.31e-15 3.32e-15 1 0 STAB2 55576 broad.mit.edu 37 12 104106206 104106206 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:104106206delG uc001tjw.2 + 41 4582 c.4396delG c.(4396-4398)GGGfs p.G1466fs STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1466 Extracellular (Potential).|EGF-like 11. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCAAGGAAACGGGACCATCTG 0.512 NA 35 97 --- --- --- --- NA NA NA NA OR4K14 122740 broad.mit.edu 37 14 20482615 20482616 + Frame_Shift_Ins INS - - A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:20482615_20482616insA uc010tky.1 - 1 737_738 c.737_738insT c.(736-738)ATGfs p.M246fs NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GCGTCACTACCATGATATGTGC 0.49 NA 9 33 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578474 7578474 + Frame_Shift_Del DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:7578474delC uc002gim.2 - 5 650 c.456delG c.(454-456)CCGfs p.P152fs TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 152 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P153fs*28(8)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(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) GGGTGCCGGGCGGGGGTGTGG 0.612 111 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-Fraumeni_syndrome|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) 13 52 --- --- --- --- NA NA NA NA C19orf41 126123 broad.mit.edu 37 19 50666294 50666295 + Frame_Shift_Del DEL GC GC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:50666294_50666295delGC uc002prp.1 - 1 244_245 c.157_158delGC c.(157-159)GCCfs p.A53fs NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 53 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) CACGGCCCCGGCGCGCGCCTGC 0.668 NA 13 37 --- --- --- --- NA NA NA NA CCNT2 905 broad.mit.edu 37 2 135711427 135711427 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:135711427delG uc002tuc.1 + 9 1434 c.1402delG c.(1402-1404)GGGfs p.G468fs CCNT2_uc002tub.1_Frame_Shift_Del_p.G468fs|CCNT2_uc010zbf.1_Frame_Shift_Del_p.G293fs|CCNT2_uc002tud.1_Frame_Shift_Del_p.G131fs NM_058241 NP_490595 O60583 CCNT2_HUMAN cyclin T2 isoform b 468 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.107) GCACAAACAAGGGCAGTCACA 0.388 NA 13 71 --- --- --- --- NA NA NA NA GZF1 64412 broad.mit.edu 37 20 23346248 23346248 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:23346248delG uc010gdb.2 + 3 1402 c.1228delG c.(1228-1230)GGCfs p.G410fs GZF1_uc002wsy.2_Frame_Shift_Del_p.G410fs|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Frame_Shift_Del_p.G410fs NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 410 C2H2-type 4. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCACCGCTGCGGCCAGTGCGG 0.682 NA 27 78 --- --- --- --- NA NA NA NA CEP70 80321 broad.mit.edu 37 3 138289944 138289944 + Frame_Shift_Del DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:138289944delC uc003esl.2 - 5 414 c.216delG c.(214-216)TTGfs p.L72fs CEP70_uc011bmk.1_Frame_Shift_Del_p.L52fs|CEP70_uc011bml.1_Frame_Shift_Del_p.L54fs|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Frame_Shift_Del_p.L72fs|CEP70_uc003esn.2_Frame_Shift_Del_p.L72fs NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 72 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 CTTCCACCAACAATTTCAAAT 0.303 NA 9 75 --- --- --- --- NA NA NA NA PLSCR5 389158 broad.mit.edu 37 3 146307593 146307593 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:146307593delG uc003ewb.2 - 6 1628 c.624delC c.(622-624)ACCfs p.T208fs PLSCR5_uc010hvb.2_Frame_Shift_Del_p.T196fs|PLSCR5_uc010hvc.2_Frame_Shift_Del_p.T208fs NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 208 0 TTTCATTAATGGTTTTCACCT 0.318 NA 22 138 --- --- --- --- NA NA NA NA SLC12A2 6558 broad.mit.edu 37 5 127510346 127510348 + In_Frame_Del DEL ATT ATT - rs149957408 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:127510346_127510348delATT uc003kus.2 + 20 3081_3083 c.2917_2919delATT c.(2917-2919)ATTdel p.I973del SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_In_Frame_Del_p.I973del NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 973 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGAAAAACCAATTACACACAAAG 0.271 NA 16 39 --- --- --- --- NA NA NA NA SCAND3 114821 broad.mit.edu 37 6 28539885 28539886 + Frame_Shift_Ins INS - - A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:28539885_28539886insA uc003nlo.2 - 4 4398_4399 c.3780_3781insT c.(3778-3783)CTTGCTfs p.L1260fs NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1260_1261 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gcaatctcagcaagctcaggat 0 NA 19 83 --- --- --- --- NA NA NA NA TULP4 56995 broad.mit.edu 37 6 158914657 158914658 + Frame_Shift_Del DEL CT CT - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:158914657_158914658delCT uc003qrf.2 + 10 3041_3042 c.1684_1685delCT c.(1684-1686)CTCfs p.L562fs TULP4_uc003qrg.2_Frame_Shift_Del_p.L562fs NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 562 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TGCTCAGGAGCTCTCCCGGTCC 0.649 NA 24 63 --- --- --- --- NA NA NA NA OGDH 4967 broad.mit.edu 37 7 44736099 44736100 + Frame_Shift_Del DEL AC AC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:44736099_44736100delAC uc003tln.2 + 14 1952_1953 c.1843_1844delAC c.(1843-1845)ACAfs p.T615fs OGDH_uc011kbx.1_Frame_Shift_Del_p.T611fs|OGDH_uc011kby.1_Frame_Shift_Del_p.T465fs|OGDH_uc003tlp.2_Frame_Shift_Del_p.T626fs|OGDH_uc011kbz.1_Frame_Shift_Del_p.T410fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.T448fs NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 615 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GGATATTCTGACACACATCGGG 0.545 NA 21 60 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21974693 21974693 + Frame_Shift_Del DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:21974693delC uc003zpk.2 - 1 346 c.134delG c.(133-135)GGTfs p.G45fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.G45fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 45 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(25)|p.G45fs*8(3)|p.G45D(2)|p.G45S(1)|p.V28_V51del(1)|p.G45del(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGCCTCCGACCGTAACTATT 0.687 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 56 100 --- --- --- --- NA NA NA NA RPL12 6136 broad.mit.edu 37 9 130210254 130210255 + Frame_Shift_Del DEL TC TC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:130210254_130210255delTC uc004bqy.1 - 6 481_482 c.393_394delGA c.(391-396)GAGATCfs p.E131fs RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Frame_Shift_Del_p.E98fs NM_000976 NP_000967 P30050 RL12_HUMAN ribosomal protein L12 131_132 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 GTCCCCAGGATCTCTTTAATGG 0.505 NA 12 92 --- --- --- --- NA NA NA NA DACH2 117154 broad.mit.edu 37 X 86069720 86069720 + Frame_Shift_Del DEL A A - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:86069720delA uc004eew.2 + 10 1737 c.1567delA c.(1567-1569)AAAfs p.K523fs DACH2_uc004eex.2_Frame_Shift_Del_p.K510fs|DACH2_uc010nmq.2_Frame_Shift_Del_p.K389fs|DACH2_uc011mra.1_Frame_Shift_Del_p.K356fs|DACH2_uc010nmr.2_Frame_Shift_Del_p.K304fs|DACH2_uc004eey.2_Frame_Shift_Del_p.K216fs|DACH2_uc004eez.2_Frame_Shift_Del_p.K206fs NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 523 Potential.|DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GAAGAAGGAGAAAAAAACCAA 0.428 NA 16 18 --- --- --- --- NA NA NA NA TSPAN6 7105 broad.mit.edu 37 X 99890221 99890221 + Frame_Shift_Del DEL A A - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:99890221delA uc004ega.1 - 3 408 c.305delT c.(304-306)TTGfs p.L102fs TSPAN6_uc010nna.1_Frame_Shift_Del_p.L8fs NM_003270 NP_003261 O43657 TSN6_HUMAN transmembrane 4 superfamily member 6 102 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity ovary(1) 1 CAGTTCGACCAAAAAAACGAG 0.393 NA 11 7 --- --- --- --- NA NA NA NA PLXNB3 5365 broad.mit.edu 37 X 153034499 153034499 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:153034499delG uc004fii.2 + 5 1537 c.1363delG c.(1363-1365)GGCfs p.G455fs PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Frame_Shift_Del_p.G137fs|PLXNB3_uc010nuk.2_Frame_Shift_Del_p.G478fs|PLXNB3_uc011mzd.1_Frame_Shift_Del_p.G94fs NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 455 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGACAGCAGTGGCAGTCACCT 0.642 NA 27 22 --- --- --- --- NA NA NA NA