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 PEX10 5192 broad.mit.edu 37 1 2338237 2338237 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:2338237C>T uc001ajh.2 - 4 767 c.698G>A c.(697-699)GGG>GAG p.G233E PEX10_uc001ajg.2_Missense_Mutation_p.G253E NM_002617 NP_002608 O60683 PEX10_HUMAN peroxisome biogenesis factor 10 isoform 2 233 protein import into peroxisome matrix|protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding central_nervous_system(1) 1 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) CAGCTGCAGCCCCATGGACAG 0.677000 SPEN 23013 broad.mit.edu 37 1 16260458 16260458 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:16260458C>A uc001axk.1 + 11 7927 c.7723C>A c.(7723-7725)CCA>ACA p.P2575T SPEN_uc010obp.1_Missense_Mutation_p.P2534T NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2575 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCCGCCCCCGCCAGTTGACTC 0.527000 NUDC 10726 broad.mit.edu 37 1 27272100 27272100 + Silent SNP G G A rs1048905 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:27272100G>A uc001bng.1 + 8 983 c.867G>A c.(865-867)AAG>AAA p.K289K NUDC_uc001bnh.1_Silent_p.K346K|NUDC_uc009vsq.1_Silent_p.K263K NM_006600 NP_006591 Q9Y266 NUDC_HUMAN nuclear distribution gene C homolog 289 cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) TGGTGGAAAAGATGATGTATG 0.527000 GPR3 2827 broad.mit.edu 37 1 27720842 27720842 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:27720842C>T uc001bod.2 + 2 635 c.540C>T c.(538-540)GGC>GGT p.G180G NM_005281 NP_005272 P46089 GPR3_HUMAN G protein-coupled receptor 3 180 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane ovary(1) 1 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) GCCTGGATGGCCTGACCACAT 0.572000 ZNF684 127396 broad.mit.edu 37 1 41013022 41013022 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:41013022C>T uc001cft.1 + 5 1278 c.1027C>T c.(1027-1029)CTC>TTC p.L343F NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 343 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) GTCCCATCTCCTCAGACATCA 0.398000 SYDE2 84144 broad.mit.edu 37 1 85648868 85648868 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:85648868G>A uc009wcm.2 - 3 1506 c.1457C>T c.(1456-1458)GCT>GTT p.A486V SYDE2_uc001dku.3_Missense_Mutation_p.A486V NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 486 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) ATTTGTAGCAGCCAGGATCCC 0.323000 KIAA1324 57535 broad.mit.edu 37 1 109734025 109734025 + Nonsense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:109734025G>T uc001dwq.2 + 13 1613 c.1477G>T c.(1477-1479)GAG>TAG p.E493* KIAA1324_uc009wex.1_Nonsense_Mutation_p.E443*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.E406*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.E391*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.E143* NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 493 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AGAGAATAAAGAGGTGGCCAG 0.488000 SF3B4 10262 broad.mit.edu 37 1 149898433 149898433 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:149898433C>T uc001etj.1 - 3 592 c.541G>A c.(541-543)GAC>AAC p.D181N SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D181N|SF3B4_uc009wll.1_Missense_Mutation_p.D181N NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 181 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCCTTGGAGTCCTTCTTGAAG 0.522000 FLG 2312 broad.mit.edu 37 1 152281867 152281867 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:152281867G>A uc001ezu.1 - 3 5531 c.5495C>T c.(5494-5496)TCG>TTG p.S1832L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1832 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTATCTACCGATTGCTCATA 0.577000 Ichthyosis HMCN1 83872 broad.mit.edu 37 1 186043953 186043953 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:186043953C>T uc001grq.1 + 53 8449 c.8220C>T c.(8218-8220)ACC>ACT p.T2740T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2740 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TATCAGACACCGGACGATATA 0.348000 HMCN1 83872 broad.mit.edu 37 1 186099668 186099668 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:186099668T>G uc001grq.1 + 85 13298 c.13069T>G c.(13069-13071)TCT>GCT p.S4357A HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4357 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGATTATCCTTCTAACTGGAT 0.418000 C4BPA 722 broad.mit.edu 37 1 207287578 207287578 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:207287578G>T uc001hfo.2 + 3 470 c.276G>T c.(274-276)CAG>CAT p.Q92H NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 92 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ATTCAACTCAGACGCTTACCT 0.423000 USH2A 7399 broad.mit.edu 37 1 216270471 216270471 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:216270471G>T uc001hku.1 - 22 5099 c.4712C>A c.(4711-4713)GCA>GAA p.A1571E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1571 Laminin G-like 1.|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) CAACTGAAGTGCAAAATACTC 0.323000 HNSCC(13;0.011) H3F3A 3020 broad.mit.edu 37 1 226253371 226253371 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr1:226253371C>A uc001hpw.2 + 3 258 c.143C>A c.(142-144)GCG>GAG p.A48E H3F3A_uc010pvl.1_Missense_Mutation_p.A48E NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 48 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding 0 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GGTACTGTGGCGCTCCGTGAA 0.403000 CALML5 51806 broad.mit.edu 37 10 5540985 5540985 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:5540985G>T uc001iic.2 - 1 549 c.417C>A c.(415-417)TTC>TTA p.F139L NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN calmodulin-like 5 139 EF-hand 4. epidermis development|signal transduction calcium ion binding|protein binding 0 GCATCCTCGCGAACTCCTCGT 0.706000 PCDH15 65217 broad.mit.edu 37 10 55721598 55721598 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:55721598G>C uc001jju.1 - 22 3318 c.2923C>G c.(2923-2925)CCT>GCT p.P975A PCDH15_uc010qhq.1_Missense_Mutation_p.P980A|PCDH15_uc010qhr.1_Missense_Mutation_p.P975A|PCDH15_uc010qhs.1_Missense_Mutation_p.P987A|PCDH15_uc010qht.1_Missense_Mutation_p.P982A|PCDH15_uc010qhu.1_Missense_Mutation_p.P975A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P975A|PCDH15_uc010qhw.1_Missense_Mutation_p.P938A|PCDH15_uc010qhx.1_Missense_Mutation_p.P904A|PCDH15_uc010qhy.1_Missense_Mutation_p.P980A|PCDH15_uc010qhz.1_Missense_Mutation_p.P975A|PCDH15_uc010qia.1_Missense_Mutation_p.P953A|PCDH15_uc010qib.1_Missense_Mutation_p.P953A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 975 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.P975T(1) pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATACTGGCAGGGTAAGGAAAC 0.328000 HNSCC(58;0.16) CTNNA3 29119 broad.mit.edu 37 10 67829243 67829243 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:67829243T>G uc009xpn.1 - 15 2105 c.1982A>C c.(1981-1983)AAG>ACG p.K661T CTNNA3_uc001jmw.2_Missense_Mutation_p.K661T NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 661 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TTGAGTCATCTTAGCCTAAAA 0.338000 CDH23 64072 broad.mit.edu 37 10 73405660 73405660 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:73405660G>A uc001jrx.3 + 12 1590 c.1213G>A c.(1213-1215)GTC>ATC p.V405I CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 405 Cadherin 4.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCCGACCTCCGTCCAGGGGAA 0.567000 SORCS3 22986 broad.mit.edu 37 10 106907538 106907538 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:106907538T>G uc001kyi.1 + 9 1693 c.1466T>G c.(1465-1467)ATT>AGT p.I489S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 489 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGGAACATCATTATTGAATTG 0.378000 PNLIPRP1 5407 broad.mit.edu 37 10 118357380 118357380 + Missense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:118357380A>T uc001lco.1 + 7 633 c.615A>T c.(613-615)GAA>GAT p.E205D PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E205D|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 205 Calcium; via carbonyl oxygen. lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) GTACTCCTGAAGAGGTGCGAC 0.488000 ATE1 11101 broad.mit.edu 37 10 123600613 123600613 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr10:123600613C>T uc001lfp.2 - 9 1223 c.1141G>A c.(1141-1143)GTC>ATC p.V381I ATE1_uc001lfq.2_Missense_Mutation_p.V381I|ATE1_uc010qtr.1_Missense_Mutation_p.V266I|ATE1_uc010qts.1_Missense_Mutation_p.V285I|ATE1_uc010qtt.1_Missense_Mutation_p.V374I|ATE1_uc001lfr.2_Missense_Mutation_p.V82I|ATE1_uc009xzu.2_RNA NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 381 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GCAGAGTAGACGCCCAAAGAC 0.363000 MUC5B 727897 broad.mit.edu 37 11 1264247 1264247 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:1264247C>T uc009ycr.1 + 47 8342 c.8216C>T c.(8215-8217)GCT>GTT p.A2739V MUC5B_uc001ltb.2_Missense_Mutation_p.A2049V NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2046 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) CCAGGAACAGCTCACACTACC 0.642000 DCHS1 8642 broad.mit.edu 37 11 6648254 6648254 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:6648254T>C uc001mem.1 - 14 6426 c.6016A>G c.(6016-6018)ACA>GCA p.T2006A NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2006 Cadherin 19.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGTGGTGTGCCTGCCAGC 0.587000 RBMXL2 27288 broad.mit.edu 37 11 7111053 7111053 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:7111053G>A uc001mfc.2 + 1 889 c.702G>A c.(700-702)TCG>TCA p.S234S NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 234 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGCCCCCTCGCCCGGAGAGT 0.687000 MRGPRX1 259249 broad.mit.edu 37 11 18955509 18955509 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:18955509C>T uc001mpg.2 - 1 1041 c.823G>A c.(823-825)GTG>ATG p.V275M NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 275 Helical; Name=7; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AAGGAGCCCACGAAGAAGTAA 0.507000 NAV2 89797 broad.mit.edu 37 11 19955484 19955484 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:19955484C>T uc010rdm.1 + 8 2124 c.1763C>T c.(1762-1764)CCA>CTA p.P588L NAV2_uc001mpp.2_Missense_Mutation_p.P501L|NAV2_uc001mpr.3_Missense_Mutation_p.P565L NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 588 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 AGTGGAATACCAAAACCAGGA 0.572000 DCDC1 341019 broad.mit.edu 37 11 31128443 31128443 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:31128443G>T uc001msu.1 - 13 1742 c.509C>A c.(508-510)TCT>TAT p.S170Y uc009yjk.1_5'UTR|uc009yjl.1_5'UTR P59894 DCDC1_HUMAN SubName: Full=Putative uncharacterized protein ENSP00000343496; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CCGCATTGAAGAATAATTGAG 0.438000 OREG0020856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR8J1 219477 broad.mit.edu 37 11 56127940 56127940 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:56127940A>C uc010rjh.1 + 1 218 c.218A>C c.(217-219)AAC>ACC p.N73T NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATCTTGGTAACTCTACTGTC 0.443000 GLYATL1 92292 broad.mit.edu 37 11 58723084 58723084 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:58723084G>A uc001nnf.2 + 8 869 c.493G>A c.(493-495)GAA>AAA p.E165K uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.E196K|GLYATL1_uc001nni.1_Missense_Mutation_p.E165K|GLYATL1_uc001nnj.1_Missense_Mutation_p.E165K Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 165 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) TGTCTACAGTGAAACTCCCAA 0.428000 MAP4K2 5871 broad.mit.edu 37 11 64564001 64564001 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:64564001G>C uc001obh.2 - 23 1689 c.1597C>G c.(1597-1599)CTC>GTC p.L533V MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.L525V NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 533 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 ACGCAGTAGAGCCAGGAGCAG 0.662000 LRP5 4041 broad.mit.edu 37 11 68201141 68201141 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:68201141C>T uc001ont.2 + 18 3910 c.3835C>T c.(3835-3837)CGC>TGC p.R1279C LRP5_uc009ysg.2_Missense_Mutation_p.R689C NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1279 LDL-receptor class A 1.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CGGGGCCTGGCGCTGTGACGG 0.677000 GDPD5 81544 broad.mit.edu 37 11 75188719 75188719 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:75188719C>A uc001owo.3 - 4 599 c.62G>T c.(61-63)GGC>GTC p.G21V GDPD5_uc001owp.3_Missense_Mutation_p.G21V|GDPD5_uc009yuc.2_5'UTR|GDPD5_uc009yud.2_Missense_Mutation_p.G21V NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 21 Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 GCCGTAGATGCCCGTGAGGCA 0.662000 TAF1D 79101 broad.mit.edu 37 11 93471662 93471662 + Missense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:93471662A>T uc001ped.2 - 3 274 c.72T>A c.(70-72)GAT>GAA p.D24E SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA NM_024116 NP_077021 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding 0 CAGAAGAGTTATCACTAGAAA 0.338000 KBTBD3 143879 broad.mit.edu 37 11 105929644 105929644 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:105929644C>T uc001pja.2 - 3 821 c.181G>A c.(181-183)GAA>AAA p.E61K KBTBD3_uc001pjb.2_Missense_Mutation_p.E61K|KBTBD3_uc009yxm.2_Intron NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 57 BTB. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GGGATTATTTCATCTTTCATA 0.318000 CLDN25 644672 broad.mit.edu 37 11 113650613 113650613 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr11:113650613G>T uc009yyw.1 + 1 96 c.96G>T c.(94-96)CAG>CAT p.Q32H NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 32 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 TCCTGCCCCAGTGGAAGACTC 0.562000 A2ML1 144568 broad.mit.edu 37 12 8975820 8975820 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr12:8975820C>T uc001quz.3 + 2 203 c.105C>T c.(103-105)TCC>TCT p.S35S NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor Error:Variant_position_missing_in_B3KVV6_after_alignment extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 ATTTCCCCTCCGTTCAGAAGG 0.443000 ETV6 2120 broad.mit.edu 37 12 12006418 12006418 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr12:12006418T>C uc001qzz.2 + 4 660 c.386T>C c.(385-387)CTT>CCT p.L129P NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 129 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCTCGGATTCTTTTTTCACCA 0.428000 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL MLL2 8085 broad.mit.edu 37 12 49431844 49431844 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr12:49431844G>A uc001rta.3 - 34 9295 c.9295C>T c.(9295-9297)CGC>TGC p.R3099C NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3099 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGGGGAGGGCGCTCCTCAGGG 0.647000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) ZMYM2 7750 broad.mit.edu 37 13 20632802 20632802 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:20632802A>G uc001umr.2 + 16 2879 c.2581A>G c.(2581-2583)ACT>GCT p.T861A ZMYM2_uc001ums.2_Missense_Mutation_p.T861A|ZMYM2_uc001umt.2_Missense_Mutation_p.T861A|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.T241A|ZMYM2_uc001umw.2_Missense_Mutation_p.T314A NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 861 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) GACAAAAGCTACTTACTGTAA 0.413000 RNF6 6049 broad.mit.edu 37 13 26789264 26789264 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:26789264C>T uc001uqo.2 - 5 1046 c.755G>A c.(754-756)CGC>CAC p.R252H RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R252H|RNF6_uc001uqp.2_Missense_Mutation_p.R252H|RNF6_uc001uqq.2_Missense_Mutation_p.R252H|RNF6_uc010tdk.1_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 252 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) GAAATTAGTGCGTGAAGCGTT 0.493000 RXFP2 122042 broad.mit.edu 37 13 32367089 32367089 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:32367089T>A uc001utt.2 + 16 1721 c.1650T>A c.(1648-1650)TTT>TTA p.F550L RXFP2_uc010aba.2_Missense_Mutation_p.F509L NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 550 Helical; Name=4; (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGGCGGGATTTTTAATAGCTG 0.388000 STARD13 90627 broad.mit.edu 37 13 33741695 33741695 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:33741695T>G uc001uuw.2 - 2 360 c.234A>C c.(232-234)TTA>TTC p.L78F STARD13_uc001uuu.2_Missense_Mutation_p.L70F|STARD13_uc001uuv.2_5'UTR|STARD13_uc001uux.2_Missense_Mutation_p.L43F|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L63F NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 78 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TACCCTCATATAACTGAGCGT 0.443000 ALG5 29880 broad.mit.edu 37 13 37539797 37539797 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:37539797C>G uc001uvy.2 - 8 755 c.688G>C c.(688-690)GGA>CGA p.G230R ALG5_uc010teq.1_Missense_Mutation_p.G200R|ALG5_uc010ter.1_RNA NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 230 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TCCCTGATTCCTTTGACACAA 0.418000 KIAA0564 23078 broad.mit.edu 37 13 42149950 42149950 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:42149950C>G uc001uyj.2 - 43 5366 c.5296G>C c.(5296-5298)GAT>CAT p.D1766H NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1766 VWFA. extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTGTAGCCATCTCCAGAGTGT 0.353000 PCDH20 64881 broad.mit.edu 37 13 61985618 61985618 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:61985618T>A uc001vid.3 - 2 2978 c.2614A>T c.(2614-2616)ATC>TTC p.I872F PCDH20_uc010thj.1_Missense_Mutation_p.I872F NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 845 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TCTATTGAGATTTGTGGTTCT 0.398000 SLITRK1 114798 broad.mit.edu 37 13 84454217 84454217 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:84454217G>T uc001vlk.2 - 1 2312 c.1426C>A c.(1426-1428)CTC>ATC p.L476I NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 476 Extracellular (Potential).|LRR 11. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTGAGAATGAGGATCCTCAGT 0.527000 GPC5 2262 broad.mit.edu 37 13 92346004 92346004 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr13:92346004C>T uc010tif.1 + 3 1255 c.889C>T c.(889-891)CGG>TGG p.R297W NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 297 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) TGCATATATCCGGTCGTTGGA 0.512000 TOX4 9878 broad.mit.edu 37 14 21960818 21960818 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr14:21960818C>T uc001waz.2 + 7 1146 c.1043C>T c.(1042-1044)TCA>TTA p.S348L TOX4_uc001way.2_Missense_Mutation_p.S218L|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.S325L|TOX4_uc010tlv.1_Missense_Mutation_p.S218L NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 348 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TCCACCCTTTCATCCTATGTG 0.493000 MDGA2 161357 broad.mit.edu 37 14 47342743 47342743 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr14:47342743G>T uc001wwj.3 - 14 2634 c.2438C>A c.(2437-2439)GCT>GAT p.A813D MDGA2_uc001wwh.3_Missense_Mutation_p.A15D|MDGA2_uc001wwi.3_Missense_Mutation_p.A584D|MDGA2_uc010ani.2_Missense_Mutation_p.A373D NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 813 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GAGAAGTCGAGCCTTTTCGCC 0.378000 SOS2 6655 broad.mit.edu 37 14 50597407 50597407 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr14:50597407C>T uc001wxs.3 - 20 3247 c.3149G>A c.(3148-3150)GGT>GAT p.G1050D SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.G1017D NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1050 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TCGTAAAGTACCTGAGGTAGA 0.418000 MED6 10001 broad.mit.edu 37 14 71064347 71064347 + Nonsense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr14:71064347A>T uc001xmf.2 - 2 200 c.170T>A c.(169-171)TTA>TAA p.L57* MED6_uc010tth.1_Nonsense_Mutation_p.L57*|MED6_uc010tti.1_Nonsense_Mutation_p.L57*|MED6_uc001xmg.1_Nonsense_Mutation_p.L57*|MED6_uc010ttj.1_Nonsense_Mutation_p.L57* NM_005466 NP_005457 O75586 MED6_HUMAN mediator of RNA polymerase II transcription, 57 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity 0 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) CAAGTGTTCTAATGTTAGCCT 0.348000 GABRA5 2558 broad.mit.edu 37 15 27185160 27185160 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:27185160C>T uc001zbd.1 + 10 1152 c.813C>T c.(811-813)ACC>ACT p.T271T GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 271 Helical; (Potential). 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 ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCATAATGACCGTGATCTTAT 0.498000 ZNF770 54989 broad.mit.edu 37 15 35275208 35275208 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:35275208G>A uc001ziw.2 - 3 739 c.428C>T c.(427-429)CCG>CTG p.P143L NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CTTAGAGCACGGGTGTAATGC 0.388000 TYRO3 7301 broad.mit.edu 37 15 41864735 41864735 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:41864735C>T uc001zof.1 + 15 2072 c.1848C>T c.(1846-1848)CTC>CTT p.L616L NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 616 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCTTCCTGCTCGCCTCCCGGA 0.617000 PYGO1 26108 broad.mit.edu 37 15 55841186 55841186 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:55841186A>G uc010bfl.1 - 2 113 c.57T>C c.(55-57)GAT>GAC p.D19D PYGO1_uc002adf.1_Silent_p.D19D NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 19 Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) CCAGTCCACTATCACCACCTA 0.338000 CILP 8483 broad.mit.edu 37 15 65490372 65490372 + Missense_Mutation SNP C C T rs139906949 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:65490372C>T uc002aon.2 - 9 2433 c.2252G>A c.(2251-2253)CGG>CAG p.R751Q NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 751 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 AACAAAGCACCGCCTGCTTTC 0.512000 TLE3 7090 broad.mit.edu 37 15 70366884 70366884 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:70366884G>A uc002asm.2 - 6 1479 c.360C>T c.(358-360)AAC>AAT p.N120N TLE3_uc002ask.2_Silent_p.N54N|TLE3_uc002asl.2_Silent_p.N126N|TLE3_uc010ukd.1_Silent_p.N113N|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.N120N|TLE3_uc002asn.2_Silent_p.N120N|TLE3_uc002asp.2_Silent_p.N120N|TLE3_uc002aso.2_Silent_p.N120N|TLE3_uc010bim.1_RNA NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 120 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CGATGATGGCGTTCAGCTCCG 0.552000 ACSBG1 23205 broad.mit.edu 37 15 78466820 78466820 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:78466820G>A uc002bdh.2 - 12 1805 c.1749C>T c.(1747-1749)ATC>ATT p.I583I ACSBG1_uc010umw.1_Silent_p.I579I|ACSBG1_uc010umx.1_Silent_p.I341I NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 583 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 CGGCCTCCTCGATGGGCACAG 0.592000 TELO2 9894 broad.mit.edu 37 16 1550474 1550474 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:1550474C>T uc002cly.2 + 8 1420 c.1129C>T c.(1129-1131)CGG>TGG p.R377W TELO2_uc010uvg.1_Missense_Mutation_p.R377W NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 377 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GCCGGAACTGCGGGACAGCCG 0.716000 OR1F1 4992 broad.mit.edu 37 16 3254894 3254894 + Silent SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:3254894T>G uc010uwu.1 + 1 648 c.648T>G c.(646-648)GCT>GCG p.A216A NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCATCCTGGCTTCTTATATGC 0.517000 ACSM2A 123876 broad.mit.edu 37 16 20487000 20487000 + Missense_Mutation SNP G G A rs4643305 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:20487000G>A uc010bwe.2 + 9 1242 c.1003G>A c.(1003-1005)GTC>ATC p.V335I ACSM2A_uc010vax.1_Missense_Mutation_p.V256I|ACSM2A_uc002dhf.3_Missense_Mutation_p.V335I|ACSM2A_uc002dhg.3_Missense_Mutation_p.V335I|ACSM2A_uc010vay.1_Missense_Mutation_p.V256I|ACSM2A_uc002dhh.3_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 335 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 ACAGAACTGCGTCACTGTAGG 0.517000 SETD1A 9739 broad.mit.edu 37 16 30970468 30970468 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:30970468C>T uc002ead.1 + 3 893 c.207C>T c.(205-207)TCC>TCT p.S69S SETD1A_uc002eae.1_Silent_p.S69S NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 ATGTCAGGTCCAAAAACAGAG 0.517000 KCTD19 146212 broad.mit.edu 37 16 67329237 67329237 + Silent SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:67329237C>G uc002esu.2 - 9 1371 c.1320G>C c.(1318-1320)GGG>GGC p.G440G KCTD19_uc002est.2_Silent_p.G212G|KCTD19_uc010vjj.1_Silent_p.G183G NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 440 BTB 2. voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TCTGGCCATCCCCGTGGATGA 0.488000 ADAD2 161931 broad.mit.edu 37 16 84224934 84224934 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr16:84224934G>A uc002fhr.2 + 1 212 c.98G>A c.(97-99)CGA>CAA p.R33Q ADAD2_uc002fhq.2_Missense_Mutation_p.R33Q NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 33 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 CGCCCCTGGCGACCGCTACCC 0.622000 NOS2 4843 broad.mit.edu 37 17 26096028 26096028 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:26096028C>T uc002gzu.2 - 17 2273 c.2009G>A c.(2008-2010)CGC>CAC p.R670H NOS2_uc010wab.1_Missense_Mutation_p.R635H NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 670 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGCCCAGCTGCGGAAGGCGTC 0.602000 FOXN1 8456 broad.mit.edu 37 17 26862160 26862160 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:26862160A>G uc010crm.2 + 8 1769 c.1571A>G c.(1570-1572)GAC>GGC p.D524G FOXN1_uc002hbj.2_Missense_Mutation_p.D524G NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 524 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CCAGATGGAGACCTTGGCACT 0.622000 SUPT6H 6830 broad.mit.edu 37 17 27013704 27013704 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:27013704G>A uc002hby.2 + 21 2687 c.2597G>A c.(2596-2598)CGC>CAC p.R866H SUPT6H_uc010crt.2_Missense_Mutation_p.R866H|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 866 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GATGTGAAGCGCATTGTACAT 0.488000 KRT27 342574 broad.mit.edu 37 17 38937500 38937500 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:38937500T>A uc002hvg.2 - 2 508 c.467A>T c.(466-468)AAT>ATT p.N156I NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 156 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) AACATGGGCATTACTGGTAGT 0.323000 MPP3 4356 broad.mit.edu 37 17 41907404 41907404 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:41907404C>T uc002iei.3 - 6 460 c.294G>A c.(292-294)CCG>CCA p.P98P MPP3_uc002ieh.2_Silent_p.P123P|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.P98P|MPP3_uc010wik.1_Silent_p.P123P|MPP3_uc010czj.1_Silent_p.P98P NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 98 L27 2. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CCCTCAGGTGCGGGGTGGACA 0.632000 GFAP 2670 broad.mit.edu 37 17 42992741 42992741 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:42992741G>A uc002ihq.2 - 1 174 c.114C>T c.(112-114)TCC>TCT p.S38S GFAP_uc002ihr.2_Silent_p.S38S|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 38 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) TTCGAGCCAGGGAGAGGCGGG 0.692000 CACNA1G 8913 broad.mit.edu 37 17 48680463 48680463 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:48680463G>A uc002irk.1 + 21 4444 c.4072G>A c.(4072-4074)GTC>ATC p.V1358I CACNA1G_uc002iri.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irj.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irl.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irm.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irn.1_Missense_Mutation_p.V1335I|CACNA1G_uc002iro.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irp.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irq.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irr.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irs.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irt.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irv.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irw.1_Missense_Mutation_p.V1335I|CACNA1G_uc002iru.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irx.1_Missense_Mutation_p.V1271I|CACNA1G_uc002iry.1_Missense_Mutation_p.V1271I|CACNA1G_uc002irz.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isa.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isb.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isc.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isd.1_Missense_Mutation_p.V1271I|CACNA1G_uc002ise.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isf.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isg.1_Missense_Mutation_p.V1271I|CACNA1G_uc002ish.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isi.1_Missense_Mutation_p.V1248I|CACNA1G_uc002isj.2_Missense_Mutation_p.V82I NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1358 III.|Helical; Name=S3 of repeat III; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCTCATCTCCGTCATCGACAT 0.657000 CA10 56934 broad.mit.edu 37 17 50008434 50008434 + Silent SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:50008434C>A uc002itw.3 - 3 1181 c.195G>T c.(193-195)CGG>CGT p.R65R CA10_uc002itv.3_Silent_p.R71R|CA10_uc002itx.3_Silent_p.R65R|CA10_uc002ity.3_Silent_p.R65R|CA10_uc002itz.2_Silent_p.R65R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 65 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGGCGACTGCCGTTTCCCCA 0.478000 APOH 350 broad.mit.edu 37 17 64216736 64216736 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:64216736C>T uc002jfn.3 - 5 599 c.540G>A c.(538-540)ATG>ATA p.M180I NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 180 Sushi 3. 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) CATTTCCAAACATCGCATGTT 0.418000 TBC1D16 125058 broad.mit.edu 37 17 77924239 77924239 + Nonsense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:77924239G>A uc002jxj.2 - 6 1344 c.1228C>T c.(1228-1230)CAG>TAG p.Q410* TBC1D16_uc002jxh.2_Nonsense_Mutation_p.Q48*|TBC1D16_uc002jxi.2_Nonsense_Mutation_p.Q49*|TBC1D16_uc002jxk.1_Nonsense_Mutation_p.Q48* NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 410 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TCCTCCACCTGGCCCAGCTCA 0.697000 LRRC30 339291 broad.mit.edu 37 18 7231239 7231239 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr18:7231239C>T uc010wzk.1 + 1 103 c.103C>T c.(103-105)CTC>TTC p.L35F NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 35 ovary(1)|liver(1) 2 CGATGCCCTGCTCTCGGGAAG 0.622000 TCEB3B 51224 broad.mit.edu 37 18 44560303 44560303 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr18:44560303C>T uc002lcr.1 - 1 1686 c.1333G>A c.(1333-1335)GGC>AGC p.G445S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 445 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GAATCAGCGCCGGCCGCCTGC 0.592000 ZCCHC2 54877 broad.mit.edu 37 18 60243811 60243811 + Nonstop_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr18:60243811G>T uc002lip.3 + 14 3536 c.3536G>T c.(3535-3537)TGA>TTA p.*1179L ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Nonstop_Mutation_p.*649L NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1179 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TCTGCAGACTGAAACGAGTAA 0.453000 MYO1F 4542 broad.mit.edu 37 19 8609309 8609309 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:8609309C>T uc002mkg.2 - 14 1510 c.1396G>A c.(1396-1398)GCC>ACC p.A466T NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 466 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TGCATGGTGGCGCACACGTCG 0.682000 MUC16 94025 broad.mit.edu 37 19 9046692 9046692 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:9046692G>C uc002mkp.2 - 5 35143 c.34939C>G c.(34939-34941)CCA>GCA p.P11647A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11649 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 GTCAAAGTTGGAATAGCTGTA 0.517000 RGS9BP 388531 broad.mit.edu 37 19 33167228 33167228 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:33167228A>C uc002ntp.1 + 1 916 c.59A>C c.(58-60)TAC>TCC p.Y20S ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank NM_207391 NP_997274 Q6ZS82 R9BP_HUMAN RGS9 anchor protein 20 Cytoplasmic (Potential). negative regulation of signal transduction integral to membrane central_nervous_system(1) 1 Esophageal squamous(110;0.137) ACTGCGTGCTACCACCACCTG 0.602000 ZNF30 90075 broad.mit.edu 37 19 35434618 35434618 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:35434618C>G uc010edp.1 + 5 1126 c.748C>G c.(748-750)CAT>GAT p.H250D ZNF30_uc002nxf.2_Missense_Mutation_p.H169D|ZNF30_uc010edq.1_Missense_Mutation_p.H251D|ZNF30_uc010edr.1_Missense_Mutation_p.H251D NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 250 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GCTTACCCGGCATCAGAGTAC 0.438000 ZNF829 374899 broad.mit.edu 37 19 37399305 37399305 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:37399305G>A uc002ofa.1 - 4 515 c.153C>T c.(151-153)TGC>TGT p.C51C ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Silent_p.C51C NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGCGTCCAGGCATTCCCATT 0.413000 ZNF569 148266 broad.mit.edu 37 19 37904953 37904953 + Nonsense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:37904953T>A uc002ogi.2 - 6 1165 c.607A>T c.(607-609)AGA>TGA p.R203* ZNF569_uc002ogh.2_Nonsense_Mutation_p.R44*|ZNF569_uc002ogj.2_Nonsense_Mutation_p.R227* NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 203 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCAGATGTCTGATGAGGTCC 0.358000 ZNF229 7772 broad.mit.edu 37 19 44933411 44933411 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:44933411A>C uc002oze.1 - 6 1979 c.1545T>G c.(1543-1545)CAT>CAG p.H515Q ZNF229_uc010ejk.1_Missense_Mutation_p.H169Q|ZNF229_uc010ejl.1_Missense_Mutation_p.H509Q NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) ATTTGTACAGATGCTGCCCCA 0.502000 AP2A1 160 broad.mit.edu 37 19 50308972 50308972 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:50308972G>C uc002ppn.2 + 21 2800 c.2589G>C c.(2587-2589)AAG>AAC p.K863N AP2A1_uc002ppo.2_Missense_Mutation_p.K841N|AP2A1_uc010enk.2_Intron NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 863 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CCATCAACAAGTTCTTCCAGC 0.662000 AP2A1 160 broad.mit.edu 37 19 50309020 50309020 + Nonsense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:50309020G>A uc002ppn.2 + 21 2848 c.2637G>A c.(2635-2637)TGG>TGA p.W879* AP2A1_uc002ppo.2_Nonsense_Mutation_p.W857*|AP2A1_uc010enk.2_Nonsense_Mutation_p.W10* NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 879 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TCCAGCGCTGGAAGCAGCTGA 0.677000 SIGLEC11 114132 broad.mit.edu 37 19 50464021 50464021 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:50464021C>A uc010ybh.1 - 2 339 c.248G>T c.(247-249)GGT>GTT p.G83V SIGLEC11_uc010ybi.1_Missense_Mutation_p.G83V NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 83 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CACAGGAGCACCCGTCTTTGG 0.592000 KLK12 43849 broad.mit.edu 37 19 51532580 51532580 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:51532580C>T uc002pvg.1 - 5 845 c.725G>A c.(724-726)CGG>CAG p.R242Q KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc002pvc.3_5'Flank|KLK11_uc010eom.2_5'Flank|KLK12_uc010ycp.1_Intron|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Missense_Mutation_p.R132Q|KLK12_uc010ycs.1_Missense_Mutation_p.R132Q|KLK12_uc002pvh.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.R242Q|KLK12_uc002pvj.1_3'UTR NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 242 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) CATGATCATCCGGATCCAGTC 0.552000 ZSCAN1 284312 broad.mit.edu 37 19 58565264 58565264 + Missense_Mutation SNP C C T rs144536843 byFrequency TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr19:58565264C>T uc002qrc.1 + 6 1319 c.1072C>T c.(1072-1074)CGG>TGG p.R358W NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 358 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAAGGGCCCCCGGGAGTCCGT 0.662000 RAD51AP2 729475 broad.mit.edu 37 2 17698511 17698511 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:17698511T>A uc002rcl.1 - 1 1196 c.1172A>T c.(1171-1173)AAA>ATA p.K391I RAD51AP2_uc010exn.1_Missense_Mutation_p.K382I NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 391 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTTTTGAGATTTTTCCAGCCT 0.333000 VSNL1 7447 broad.mit.edu 37 2 17830854 17830854 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:17830854G>A uc002rcm.2 + 3 724 c.340G>A c.(340-342)GGC>AGC p.G114S NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 114 EF-hand 3.|2 (Potential). calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGATGGTGATGGCAAGATCAC 0.587000 WDR35 57539 broad.mit.edu 37 2 20178532 20178532 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:20178532A>G uc002rdi.2 - 5 524 c.416T>C c.(415-417)GTG>GCG p.V139A WDR35_uc002rdj.2_Missense_Mutation_p.V139A|WDR35_uc010ext.2_RNA NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 139 WD 3. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCAACTATCACAGCCCCATC 0.378000 WDR35 57539 broad.mit.edu 37 2 20178576 20178576 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:20178576A>G uc002rdi.2 - 5 480 c.372T>C c.(370-372)AAT>AAC p.N124N WDR35_uc002rdj.2_Silent_p.N124N|WDR35_uc010ext.2_RNA NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 124 WD 3. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCGTCAGCATTCCAGCTCA 0.368000 WDR35 57539 broad.mit.edu 37 2 20178631 20178631 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:20178631A>G uc002rdi.2 - 5 425 c.317T>C c.(316-318)ATT>ACT p.I106T WDR35_uc002rdj.2_Missense_Mutation_p.I106T|WDR35_uc010ext.2_RNA NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 106 WD 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCTCCTCAATCCAAGAGCC 0.358000 PUS10 150962 broad.mit.edu 37 2 61238963 61238963 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:61238963A>G uc010fci.2 - 2 123 c.63T>C c.(61-63)TGT>TGC p.C21C PUS10_uc002sao.2_Silent_p.C21C|PUS10_uc010ypk.1_5'UTR|PUS10_uc002sap.1_RNA|PUS10_uc002saq.1_RNA NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 21 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TACATCTTGGACAAGTACCAG 0.318000 PPP3R1 5534 broad.mit.edu 37 2 68415709 68415709 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:68415709G>T uc002sei.1 - 3 549 c.157C>A c.(157-159)CCT>ACT p.P53T NM_000945 NP_000936 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, 53 EF-hand 2. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding 0 Pimecrolimus(DB00337) TGTACTAAAGGATTCTGTTGT 0.348000 SNRNP27 11017 broad.mit.edu 37 2 70122244 70122244 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:70122244C>T uc002sfw.2 + 2 80 c.53C>T c.(52-54)TCC>TTC p.S18F SNRNP27_uc002sfv.2_RNA|SNRNP27_uc002sfx.2_Missense_Mutation_p.S18F NM_006857 NP_006848 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa 18 Arg-rich. mRNA processing|RNA splicing nucleus nucleic acid binding 0 CGTTCCCGGTCCACATCCCGG 0.547000 LRP2 4036 broad.mit.edu 37 2 170042037 170042037 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:170042037C>T uc002ues.2 - 50 10034 c.9821G>A c.(9820-9822)AGT>AAT p.S3274N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3274 LDL-receptor class B 30.|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) TACAGCCAGACTTTCTGCAGC 0.348000 TTN 7273 broad.mit.edu 37 2 179455023 179455023 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:179455023C>G uc010zfg.1 - 253 53949 c.53725G>C c.(53725-53727)GAA>CAA p.E17909Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11604Q|TTN_uc010zfi.1_Missense_Mutation_p.E11537Q|TTN_uc010zfj.1_Missense_Mutation_p.E11412Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18836 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) ACATCAAGTTCTACTTCTGGA 0.433000 TTN 7273 broad.mit.edu 37 2 179614932 179614932 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:179614932T>G uc002unb.2 - 46 12419 c.12195A>C c.(12193-12195)CAA>CAC p.Q4065H 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) CGCCTTTTGCTTGGTCAAACA 0.423000 SESTD1 91404 broad.mit.edu 37 2 180047901 180047901 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:180047901G>A uc002uni.3 - 3 220 c.70C>T c.(70-72)CGG>TGG p.R24W NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 24 CRAL-TRIO. 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) AGGCCACTCCGTCTGTCTTTT 0.343000 ZC3H15 55854 broad.mit.edu 37 2 187359984 187359984 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:187359984A>C uc002upo.2 + 2 325 c.100A>C c.(100-102)AAG>CAG p.K34Q NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 34 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TTTGAAGAATAAGAAAGGAGC 0.323000 AOX1 316 broad.mit.edu 37 2 201501705 201501705 + Silent SNP G G A rs148411225 byFrequency TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:201501705G>A uc002uvx.2 + 22 2519 c.2418G>A c.(2416-2418)GCG>GCA p.A806A AOX1_uc010zhf.1_Silent_p.A362A|AOX1_uc010fsu.2_Silent_p.A172A NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 806 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGTGGAGCGTTTGGAGGGA 0.433000 MAP2 4133 broad.mit.edu 37 2 210557575 210557575 + Silent SNP G G C rs139978953 byFrequency TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:210557575G>C uc002vde.1 + 7 929 c.681G>C c.(679-681)GGG>GGC p.G227G MAP2_uc002vdc.1_Silent_p.G227G|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.G223G NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 227 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTTTGTTTGGGCACACTCTTG 0.468000 BARD1 580 broad.mit.edu 37 2 215593615 215593615 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:215593615G>A uc002veu.2 - 11 2254 c.2119C>T c.(2119-2121)CCC>TCC p.P707S BARD1_uc010zjm.1_Silent_p.S561S NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 707 BRCT 2. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCTGGCTTGGGCTTTCTACTG 0.488000 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome FN1 2335 broad.mit.edu 37 2 216259415 216259415 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:216259415G>T uc002vfa.2 - 24 3898 c.3632C>A c.(3631-3633)ACC>AAC p.T1211N FN1_uc002vfb.2_Missense_Mutation_p.T1211N|FN1_uc002vfc.2_Missense_Mutation_p.T1211N|FN1_uc002vfd.2_Missense_Mutation_p.T1211N|FN1_uc002vfe.2_Missense_Mutation_p.T1211N|FN1_uc002vff.2_Missense_Mutation_p.T1211N|FN1_uc002vfg.2_Missense_Mutation_p.T1211N|FN1_uc002vfh.2_Missense_Mutation_p.T1211N|FN1_uc002vfi.2_Missense_Mutation_p.T1211N|FN1_uc002vfj.2_Missense_Mutation_p.T1211N|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1211 Fibronectin type-III 7. 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) GTTTGTAGGGGTTGTGGTAAT 0.443000 MARCH4 57574 broad.mit.edu 37 2 217142568 217142568 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:217142568G>A uc002vgb.2 - 3 2459 c.692C>T c.(691-693)ACG>ATG p.T231M NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 231 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CTCAATGACCGTCAGAGAGAT 0.567000 ATG9A 79065 broad.mit.edu 37 2 220086872 220086872 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:220086872G>C uc002vke.1 - 13 2231 c.2045C>G c.(2044-2046)GCC>GGC p.A682G ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A682G NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 682 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGGAGCTGGCTGTCCTGGC 0.592000 SCG2 7857 broad.mit.edu 37 2 224462279 224462279 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:224462279C>T uc002vnm.2 - 2 1855 c.1722G>A c.(1720-1722)CCG>CCA p.P574P NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 574 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CATCATTCTTCGGGGGCCCCA 0.493000 INPP5D 3635 broad.mit.edu 37 2 234112803 234112803 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:234112803A>G uc010zmo.1 + 25 3160 c.3007A>G c.(3007-3009)ACG>GCG p.T1003A INPP5D_uc010zmp.1_Missense_Mutation_p.T1002A NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 1003 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGCAGGGGACACGCTGCCTCA 0.512000 FERMT1 55612 broad.mit.edu 37 20 6060153 6060153 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr20:6060153G>C uc002wmr.2 - 14 2579 c.1790C>G c.(1789-1791)ACC>AGC p.T597S FERMT1_uc002wmq.2_Missense_Mutation_p.T150S|FERMT1_uc010gbt.2_Missense_Mutation_p.T340S NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN kindlin-1 597 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding ovary(1)|pancreas(1)|skin(1) 3 TGGAATCCCGGTGGCTGCATC 0.363000 C20orf106 200232 broad.mit.edu 37 20 55100090 55100090 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr20:55100090C>G uc002xxx.2 + 1 306 c.226C>G c.(226-228)CAA>GAA p.Q76E GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Missense_Mutation_p.Q76E NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor 76 Cytoplasmic (Potential). integral to membrane 0 Colorectal(105;0.202) ACTGCAGTGTCAAAGAGACAG 0.453000 DIDO1 11083 broad.mit.edu 37 20 61512061 61512061 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr20:61512061C>T uc002ydr.1 - 16 5511 c.5247G>A c.(5245-5247)CCG>CCA p.P1749P DIDO1_uc002yds.1_Silent_p.P1749P NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1749 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GACCCTGAAACGGGGGCTGAG 0.672000 PCMTD2 55251 broad.mit.edu 37 20 62904872 62904872 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr20:62904872G>A uc002yil.3 + 6 1205 c.1005G>A c.(1003-1005)GTG>GTA p.V335V PCMTD2_uc002yim.3_Silent_p.V308V NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 335 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACCCCCCAGTGAACTTCCTAC 0.502000 LIPI 149998 broad.mit.edu 37 21 15579146 15579146 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr21:15579146G>A uc002yjm.2 - 1 109 c.99C>T c.(97-99)TGC>TGT p.C33C NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 11 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ctgatctcaggcacacaacta 0.229000 ITSN1 6453 broad.mit.edu 37 21 35166671 35166671 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr21:35166671A>G uc002yta.1 + 17 2119 c.1851A>G c.(1849-1851)CAA>CAG p.Q617Q DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.Q617Q|ITSN1_uc010gmg.2_Silent_p.Q580Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.Q617Q|ITSN1_uc010gmi.2_Silent_p.Q580Q|ITSN1_uc010gmj.2_Silent_p.Q501Q|ITSN1_uc002ysy.2_Silent_p.Q617Q|ITSN1_uc002ysx.2_Silent_p.Q580Q|ITSN1_uc002ytb.1_Silent_p.Q617Q|ITSN1_uc002ytc.1_Silent_p.Q617Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.Q580Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.Q617Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.Q551Q NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 617 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ACAATAAGCAACAACTCCAGA 0.368000 HLCS 3141 broad.mit.edu 37 21 38128931 38128931 + Missense_Mutation SNP C C G rs150665851 byFrequency TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr21:38128931C>G uc010gnb.2 - 10 3122 c.1921G>C c.(1921-1923)GTG>CTG p.V641L HLCS_uc002yvs.2_Missense_Mutation_p.V641L NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 641 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGCACAGTCACGACTCTGGCG 0.488000 BCR 613 broad.mit.edu 37 22 23630318 23630318 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr22:23630318G>A uc002zww.2 + 12 3157 c.2561G>A c.(2560-2562)CGT>CAT p.R854H BCR_uc002zwx.2_Missense_Mutation_p.R854H|BCR_uc011aiy.1_Missense_Mutation_p.R443H|BCR_uc002zwy.1_Missense_Mutation_p.R140H NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 854 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 GACTATGAGCGTGCAGAGTGG 0.567000 T ABL1| FGFR1|JAK2 CML|ALL|AML ELFN2 114794 broad.mit.edu 37 22 37769709 37769709 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr22:37769709C>T uc003asq.3 - 3 2652 c.1866G>A c.(1864-1866)GCG>GCA p.A622A NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 622 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GGGTCACGGCCGCGTCGGCGC 0.687000 TRIOBP 11078 broad.mit.edu 37 22 38130551 38130551 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr22:38130551C>T uc003atr.2 + 9 4479 c.4208C>T c.(4207-4209)CCT>CTT p.P1403L TRIOBP_uc003atu.2_Missense_Mutation_p.P1231L NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1403 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCCAGGACCCCTGAGAGGGAG 0.657000 SHANK3 85358 broad.mit.edu 37 22 51159690 51159690 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr22:51159690T>C uc003bne.1 + 22 3477 c.3477T>C c.(3475-3477)TTT>TTC p.F1159F SHANK3_uc003bnf.1_Silent_p.F606F|SHANK3_uc010hbg.1_Silent_p.F341F NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1159 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GACCCCTGTTTGTGGATGTAC 0.716000 FBLN2 2199 broad.mit.edu 37 3 13672213 13672213 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:13672213G>A uc011avb.1 + 14 2967 c.2842G>A c.(2842-2844)GAG>AAG p.E948K FBLN2_uc011auz.1_Missense_Mutation_p.E974K|FBLN2_uc011ava.1_Missense_Mutation_p.E995K|FBLN2_uc011avc.1_Missense_Mutation_p.E995K NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 948 EGF-like 8; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GAATGAGTGTGAGGCCCAGCG 0.622000 TGFBR2 7048 broad.mit.edu 37 3 30713756 30713756 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:30713756C>T uc003ceo.2 + 4 1463 c.1081C>T c.(1081-1083)CTC>TTC p.L361F TGFBR2_uc003cen.2_Missense_Mutation_p.L386F NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 361 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GATTGCTCACCTCCACAGTGA 0.607000 C3orf14 57415 broad.mit.edu 37 3 62317026 62317026 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:62317026A>G uc003dlf.2 + 5 348 c.204A>G c.(202-204)CTA>CTG p.L68L C3orf14_uc010hnq.2_Silent_p.L68L|C3orf14_uc003dlg.2_Silent_p.L68L NM_020685 NP_065736 Q9HBI5 CC014_HUMAN hypothetical protein LOC57415 68 central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) AAAAGTCACTACAGACCAGGA 0.398000 CADPS 8618 broad.mit.edu 37 3 62459960 62459960 + Missense_Mutation SNP G G T rs151301388 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:62459960G>T uc003dll.2 - 24 3725 c.3365C>A c.(3364-3366)ACC>AAC p.T1122N CADPS_uc003dlj.1_Missense_Mutation_p.T72N|CADPS_uc003dlk.1_Missense_Mutation_p.T570N|CADPS_uc003dlm.2_Missense_Mutation_p.T1083N|CADPS_uc003dln.2_Missense_Mutation_p.T1043N NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1122 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGATCGACTGGTTTTTTGCAG 0.393000 ROBO2 6092 broad.mit.edu 37 3 77623795 77623795 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:77623795T>G uc003dpy.3 + 14 2760 c.2117T>G c.(2116-2118)GTG>GGG p.V706G ROBO2_uc003dpz.2_Missense_Mutation_p.V710G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V710G NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 706 Fibronectin type-III 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAAAAGGGGGTGACTTATGAA 0.428000 OR5K1 26339 broad.mit.edu 37 3 98188869 98188869 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:98188869T>A uc003dsm.2 + 1 449 c.449T>A c.(448-450)ATA>AAA p.I150K NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 GGGGCCTTCATAGCTGGAAAC 0.453000 OR5K2 402135 broad.mit.edu 37 3 98217288 98217288 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:98217288T>A uc011bgx.1 + 1 764 c.764T>A c.(763-765)ATT>AAT p.I255N NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TATGGATCTATTTTTTTCCTA 0.343000 FAM55C 91775 broad.mit.edu 37 3 101520287 101520287 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:101520287C>T uc003dvn.2 + 5 939 c.302C>T c.(301-303)ACT>ATT p.T101I FAM55C_uc010hpn.2_Missense_Mutation_p.T101I NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 101 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GTGAAGAGCACTGACCCTTCT 0.552000 PDIA5 10954 broad.mit.edu 37 3 122808024 122808024 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:122808024C>T uc003egc.1 + 2 108 c.52C>T c.(52-54)CCA>TCA p.P18S PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 18 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) GGTGGTCCTGCCATCATGGCT 0.542000 ROPN1 54763 broad.mit.edu 37 3 123695732 123695732 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:123695732C>T uc003eha.2 - 4 554 c.213G>A c.(211-213)CTG>CTA p.L71L NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN ropporin 71 signal transduction cAMP-dependent protein kinase regulator activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.148) GGATCTTTAACAGCTCAGGTG 0.547000 EIF2A 83939 broad.mit.edu 37 3 150290091 150290091 + Silent SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:150290091A>C uc003eya.2 + 10 1174 c.1158A>C c.(1156-1158)GGA>GGC p.G386G SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.G259G|EIF2A_uc003eyc.2_Silent_p.G259G|EIF2A_uc011bnv.1_Silent_p.G361G|EIF2A_uc011bnw.1_Silent_p.G325G|EIF2A_uc003eyd.2_Silent_p.G161G|uc003eye.1_Intron NM_032025 NP_114414 Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A 386 WD 3. regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding 0 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTAATAATGGATACAAAATTT 0.418000 MME 4311 broad.mit.edu 37 3 154866382 154866382 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:154866382A>C uc010hvr.1 + 16 1752 c.1541A>C c.(1540-1542)AAT>ACT p.N514T MME_uc003fab.1_Missense_Mutation_p.N514T|MME_uc003fac.1_Missense_Mutation_p.N514T|MME_uc003fad.1_Missense_Mutation_p.N514T|MME_uc003fae.1_Missense_Mutation_p.N514T NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 514 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) ATAATTCAAAATTTGAAATTC 0.313000 SMC4 10051 broad.mit.edu 37 3 160151539 160151539 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr3:160151539A>C uc003fdh.2 + 24 3922 c.3809A>C c.(3808-3810)AAC>ACC p.N1270T IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.N1245T|SMC4_uc003fdj.2_Missense_Mutation_p.N1270T|SMC4_uc010hwd.2_Missense_Mutation_p.N1212T|SMC4_uc003fdl.2_Missense_Mutation_p.N973T NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 1270 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGACATACAACATAACAAAA 0.299000 IL8 3576 broad.mit.edu 37 4 74606394 74606394 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr4:74606394G>T uc003hhe.2 + 1 120 c.19G>T c.(19-21)GTG>TTG p.V7L IL8_uc011cbh.1_Missense_Mutation_p.V7L NM_000584 NP_000575 P10145 IL8_HUMAN interleukin 8 precursor 7 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding ovary(2) 2 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) CAAGCTGGCCGTGGCTCTCTT 0.488000 ADH5 128 broad.mit.edu 37 4 99997596 99997596 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr4:99997596G>A uc003hui.2 - 6 752 c.672C>T c.(670-672)ATC>ATT p.I224I ADH5_uc003huk.1_Silent_p.I224I|ADH5_uc003huj.2_Silent_p.I102I NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit 224 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) TATCTTTATTGATGTCCACAC 0.468000 NDST3 9348 broad.mit.edu 37 4 119154234 119154234 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr4:119154234A>C uc003ibx.2 + 9 2290 c.1887A>C c.(1885-1887)AAA>AAC p.K629N NDST3_uc011cgf.1_Missense_Mutation_p.K548N NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 629 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 CCAGCCCAAAAACCTTTGAGG 0.368000 ODZ3 55714 broad.mit.edu 37 4 183609479 183609479 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr4:183609479C>T uc003ivd.1 + 11 2233 c.2196C>T c.(2194-2196)GGC>GGT p.G732G ODZ3_uc003ive.1_Silent_p.G138G NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 732 Extracellular (Potential).|EGF-like 7. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCAGCCAGGGCTGGAATGGAG 0.587000 SLC6A19 340024 broad.mit.edu 37 5 1212459 1212459 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:1212459T>G uc003jbw.3 + 4 579 c.523T>G c.(523-525)TTC>GTC p.F175V NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 175 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGTGGACTACTTCTGGTACCG 0.622000 SEMA5A 9037 broad.mit.edu 37 5 9063138 9063138 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:9063138C>G uc003jek.2 - 18 3091 c.2379G>C c.(2377-2379)TGG>TGC p.W793C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 793 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGCACTGTGACCACGACGTCC 0.597000 PDE8B 8622 broad.mit.edu 37 5 76704759 76704759 + Silent SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:76704759C>A uc003kfa.2 + 14 1452 c.1407C>A c.(1405-1407)GTC>GTA p.V469V PDE8B_uc003kfb.2_Silent_p.V449V|PDE8B_uc003kfc.2_Intron|PDE8B_uc003kfd.2_Silent_p.V422V|PDE8B_uc003kfe.2_Silent_p.V372V NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 469 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ACAGCCCAGTCACAGTAGCGG 0.443000 IK 3550 broad.mit.edu 37 5 140033632 140033632 + Nonsense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:140033632C>T uc003lgq.2 + 6 624 c.514C>T c.(514-516)CAA>TAA p.Q172* IK_uc011czk.1_Nonsense_Mutation_p.Q172* NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 172 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCTGCTTCAAAAGGTGAG 0.493000 PCDHB4 56131 broad.mit.edu 37 5 140501697 140501697 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:140501697G>A uc003lip.1 + 1 117 c.117G>A c.(115-117)GAG>GAA p.E39E NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 39 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAAACAGAGAGCGGCTCCT 0.537000 PCDHGC3 5098 broad.mit.edu 37 5 140856557 140856557 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:140856557C>T uc003lkv.1 + 1 989 c.874C>T c.(874-876)CGG>TGG p.R292W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R292W|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 292 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGGCGTGCGGCAACTATT 0.557000 DOCK2 1794 broad.mit.edu 37 5 169101311 169101311 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:169101311A>G uc003maf.2 + 6 412 c.332A>G c.(331-333)AAG>AGG p.K111R DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 111 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAGCAAAAAGGAGCGTTTT 0.498000 MSX2 4488 broad.mit.edu 37 5 174156283 174156283 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:174156283C>T uc003mcy.2 + 2 589 c.501C>T c.(499-501)CTC>CTT p.L167L NM_002449 NP_002440 P35548 MSX2_HUMAN msh homeobox 2 167 Homeobox. cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AACAGTACCTCTCCATTGCAG 0.567000 ABT1 29777 broad.mit.edu 37 6 26598840 26598840 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:26598840C>T uc003nii.2 + 3 817 c.786C>T c.(784-786)AGC>AGT p.S262S NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 262 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 CCTCAGAGAGCATGGAGGGAC 0.622000 CNPY3 10695 broad.mit.edu 37 6 42897330 42897330 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:42897330G>A uc003ota.3 + 1 471 c.22G>A c.(22-24)GCG>ACG p.A8T CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.A8T|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 8 innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GCCTGAGCCCGCGTCCCGCTG 0.627000 CNR1 1268 broad.mit.edu 37 6 88854325 88854325 + Silent SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:88854325G>T uc011dzq.1 - 2 4232 c.669C>A c.(667-669)GCC>GCA p.A223A CNR1_uc010kbz.2_Silent_p.A223A|CNR1_uc011dzr.1_Silent_p.A223A|CNR1_uc011dzs.1_Silent_p.A223A|CNR1_uc003pmq.3_Silent_p.A223A|CNR1_uc011dzt.1_Silent_p.A223A|CNR1_uc010kca.2_Silent_p.A190A NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 223 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCCTCTTATAGGCCAGGGGCC 0.587000 BACH2 60468 broad.mit.edu 37 6 90660506 90660506 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:90660506T>C uc011eab.1 - 7 2128 c.1319A>G c.(1318-1320)CAA>CGA p.Q440R BACH2_uc003pnw.2_Missense_Mutation_p.Q440R|BACH2_uc010kch.2_Missense_Mutation_p.Q440R NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 440 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGTGCTCACTTGGTCACAAGC 0.612000 COQ3 51805 broad.mit.edu 37 6 99842017 99842017 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:99842017C>A uc003ppk.2 - 1 66 c.39G>T c.(37-39)TGG>TGT p.W13C NM_017421 NP_059117 Q9NZJ6 COQ3_HUMAN hexaprenyldihydroxybenzoate methyltransferase 13 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity upper_aerodigestive_tract(1) 1 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) CTCTTAAAAACCAACCCCCGG 0.562000 GRIK2 2898 broad.mit.edu 37 6 102483269 102483269 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:102483269G>T uc003pqp.3 + 14 2388 c.2139G>T c.(2137-2139)AGG>AGT p.R713S GRIK2_uc003pqo.3_Missense_Mutation_p.R713S|GRIK2_uc010kcw.2_Missense_Mutation_p.R713S NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 713 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTAGCAGAAGGCAGTCAGTGC 0.393000 KIAA1919 91749 broad.mit.edu 37 6 111587791 111587791 + Silent SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:111587791T>A uc003puv.3 + 4 1448 c.1026T>A c.(1024-1026)TCT>TCA p.S342S NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 342 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTGGTGTTTCTTGGATTGAGC 0.438000 EYA4 2070 broad.mit.edu 37 6 133777756 133777756 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:133777756G>A uc003qec.3 + 6 798 c.340G>A c.(340-342)GAT>AAT p.D114N EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.D114N|EYA4_uc003qee.3_Missense_Mutation_p.D91N|EYA4_uc011ecs.1_Missense_Mutation_p.D114N|uc003qef.1_RNA NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 114 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CACGACTGGAGATGGAGCGCT 0.473000 AKAP12 9590 broad.mit.edu 37 6 151674697 151674697 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr6:151674697C>G uc011eep.1 + 4 5411 c.5171C>G c.(5170-5172)ACC>AGC p.T1724S AKAP12_uc003qoe.2_Missense_Mutation_p.T1724S|AKAP12_uc003qof.2_Missense_Mutation_p.T1626S|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T1619S NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1724 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGAGGCTTAACCAAAGAGTCC 0.438000 WIPI2 26100 broad.mit.edu 37 7 5256764 5256764 + Silent SNP G G A rs149226373 byFrequency TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:5256764G>A uc003snv.2 + 6 738 c.522G>A c.(520-522)GCG>GCA p.A174A WIPI2_uc003snw.2_Silent_p.A174A|WIPI2_uc003snx.2_Silent_p.A156A|WIPI2_uc003sny.2_Silent_p.A156A|WIPI2_uc010ksv.2_Silent_p.A30A|WIPI2_uc003snz.2_Silent_p.A115A|WIPI2_uc003soa.2_Silent_p.A115A NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 174 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) GCTACTTGGCGTACCCAGGGA 0.512000 HNRNPA2B1 3181 broad.mit.edu 37 7 26233297 26233297 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:26233297T>A uc003sxr.3 - 9 991 c.775A>T c.(775-777)AGC>TGC p.S259C HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.S247C NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 259 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 TAACCGGGGCTACCTCCAAAA 0.448000 T ETV1 prostate BBS9 27241 broad.mit.edu 37 7 33384196 33384196 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:33384196G>C uc003tdn.1 + 12 1792 c.1279G>C c.(1279-1281)GCG>CCG p.A427P BBS9_uc003tdo.1_Missense_Mutation_p.A427P|BBS9_uc003tdp.1_Missense_Mutation_p.A427P|BBS9_uc003tdq.1_Missense_Mutation_p.A427P|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.A305P NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 427 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TTTACAGCAAGCGACCGATGT 0.388000 Bardet-Biedl_syndrome NPSR1 387129 broad.mit.edu 37 7 34888196 34888196 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:34888196C>A uc003teg.1 + 8 1074 c.946C>A c.(946-948)CAG>AAG p.Q316K AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Q316K|NPSR1_uc010kwt.1_Missense_Mutation_p.Q163K|NPSR1_uc010kwu.1_Missense_Mutation_p.Q106K|NPSR1_uc010kwv.1_Missense_Mutation_p.Q250K|NPSR1_uc003tei.1_Missense_Mutation_p.Q316K|NPSR1_uc010kww.1_Missense_Mutation_p.Q305K|NPSR1_uc011kar.1_Missense_Mutation_p.Q250K NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 316 Helical; Name=7; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TGTGATCATTCAGAACCTGCC 0.493000 OGDH 4967 broad.mit.edu 37 7 44721435 44721435 + Silent SNP C C T rs140074828 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:44721435C>T uc003tln.2 + 10 1432 c.1323C>T c.(1321-1323)GTC>GTT p.V441V OGDH_uc011kbx.1_Silent_p.V437V|OGDH_uc011kby.1_Silent_p.V291V|OGDH_uc003tlp.2_Silent_p.V452V|OGDH_uc011kbz.1_Silent_p.V236V|OGDH_uc003tlo.1_Silent_p.V274V NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 441 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) TGCACGTGGTCGTCAACAACC 0.527000 TBRG4 9238 broad.mit.edu 37 7 45140909 45140909 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:45140909C>T uc003tmv.2 - 10 1868 c.1742G>A c.(1741-1743)CGC>CAC p.R581H TBRG4_uc003tmu.2_Missense_Mutation_p.R406H|TBRG4_uc003tmw.2_Missense_Mutation_p.R471H|TBRG4_uc003tmx.2_Missense_Mutation_p.R471H|TBRG4_uc011kcd.1_Missense_Mutation_p.R592H NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 581 RAP. apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 CAGAACAAAGCGACCCAGCAA 0.572000 CYP51A1 1595 broad.mit.edu 37 7 91761090 91761090 + Nonsense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:91761090T>A uc003ulm.3 - 2 451 c.289A>T c.(289-291)AAG>TAG p.K97* CYP51A1_uc011khn.1_5'UTR|CYP51A1_uc003uln.3_Nonsense_Mutation_p.K34*|uc003ulo.1_5'Flank NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 91 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) AGACTTACCTTCTCATATGCA 0.318000 TRRAP 8295 broad.mit.edu 37 7 98609873 98609873 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:98609873C>T uc003upp.2 + 72 11684 c.11475C>T c.(11473-11475)CTC>CTT p.L3825L TRRAP_uc011kis.1_Silent_p.L3796L|TRRAP_uc003upr.2_Silent_p.L3531L|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3825 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCACAACCTCGCCCAGTTCG 0.652000 DOCK4 9732 broad.mit.edu 37 7 111509706 111509706 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:111509706A>G uc003vfx.2 - 21 2302 c.2033T>C c.(2032-2034)CTC>CCC p.L678P DOCK4_uc003vfw.2_Missense_Mutation_p.L119P|DOCK4_uc003vfy.2_Missense_Mutation_p.L678P|DOCK4_uc003vga.1_Missense_Mutation_p.L283P NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 678 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CACTTTGATGAGATCTCTAAA 0.408000 MKLN1 4289 broad.mit.edu 37 7 131128366 131128366 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:131128366C>G uc011kpm.1 + 11 1364 c.1300C>G c.(1300-1302)CAA>GAA p.Q434E MKLN1_uc011kpl.1_Missense_Mutation_p.Q411E|MKLN1_uc010lmh.2_Missense_Mutation_p.Q434E|MKLN1_uc003vqs.2_Missense_Mutation_p.Q227E NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 434 Kelch 3. signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) TTTCAACTGTCAATGTCAAAC 0.453000 SSPO 23145 broad.mit.edu 37 7 149489542 149489542 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr7:149489542C>T uc010lpk.2 + 38 5695 c.5695C>T c.(5695-5697)CGC>TGC p.R1899C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1899 EGF-like 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACGGCCCCGACGCTGCCGACT 0.692000 MYOM2 9172 broad.mit.edu 37 8 2088737 2088737 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:2088737A>G uc003wpx.3 + 33 4030 c.3892A>G c.(3892-3894)AAA>GAA p.K1298E MYOM2_uc011kwi.1_Missense_Mutation_p.K723E NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1298 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGAGAAGGATAAAGGAAAATA 0.433000 AMAC1L2 83650 broad.mit.edu 37 8 11189026 11189026 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:11189026T>C uc003wtp.1 + 1 532 c.411T>C c.(409-411)TCT>TCC p.S137S NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 137 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) GCAAAGGTTCTTCCACCGTAT 0.587000 PHYHIP 9796 broad.mit.edu 37 8 22081773 22081773 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:22081773G>A uc003xbk.3 - 5 1118 c.424C>T c.(424-426)CGC>TGC p.R142C PHYHIP_uc003xbj.3_Missense_Mutation_p.R142C NM_001099335 NP_001092805 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 142 0 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) TGATGGTTGCGGTAGAAGACG 0.622000 FBXO16 157574 broad.mit.edu 37 8 28314318 28314318 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:28314318G>C uc003xgu.2 - 5 570 c.472C>G c.(472-474)CAA>GAA p.Q158E ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.Q145E|FBXO16_uc003xgw.2_Missense_Mutation_p.Q145E NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 158 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TTCACCATTTGAATATAGTGC 0.408000 ANK1 286 broad.mit.edu 37 8 41526001 41526001 + Silent SNP C C T rs139149232 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:41526001C>T uc003xok.2 - 39 5262 c.5178G>A c.(5176-5178)ACG>ACA p.T1726T NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.T880T|ANK1_uc003xoi.2_Silent_p.T1726T|ANK1_uc003xoj.2_Silent_p.T1726T|ANK1_uc003xol.2_Silent_p.T1564T|ANK1_uc003xom.2_Silent_p.T1767T NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1726 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGGACCTTGCGTGACCTCCT 0.552000 RGS20 8601 broad.mit.edu 37 8 54792024 54792024 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:54792024G>A uc003xrp.2 + 2 464 c.372G>A c.(370-372)CCG>CCA p.P124P RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 124 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) AGGAGCTGCCGGGCCGCCTCT 0.791000 RDH10 157506 broad.mit.edu 37 8 74233246 74233246 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:74233246G>C uc003xzi.2 + 4 964 c.704G>C c.(703-705)GGA>GCA p.G235A RDH10_uc003xzj.2_Missense_Mutation_p.G70A|uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 235 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) GAAAAGGATGGAATTAAAACA 0.413000 ZFHX4 79776 broad.mit.edu 37 8 77768366 77768366 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:77768366C>A uc003yav.2 + 10 9461 c.9074C>A c.(9073-9075)GCT>GAT p.A3025D ZFHX4_uc003yau.1_Missense_Mutation_p.A3070D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A3025D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3025 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATAAAGAAAGCTTCAGACGTG 0.577000 HNSCC(33;0.089) WWP1 11059 broad.mit.edu 37 8 87455005 87455005 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:87455005A>G uc003ydt.2 + 18 2276 c.1996A>G c.(1996-1998)ATG>GTG p.M666V WWP1_uc010mai.2_Missense_Mutation_p.M442V NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 666 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TTTTATTGCCATGGTGAGTTC 0.313000 WWP1 11059 broad.mit.edu 37 8 87464854 87464854 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:87464854T>C uc003ydt.2 + 21 2620 c.2340T>C c.(2338-2340)TTT>TTC p.F780F NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 780 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TTGATGGTTTTAATGAAGTTG 0.363000 CNGB3 54714 broad.mit.edu 37 8 87738794 87738794 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:87738794C>G uc003ydx.2 - 3 349 c.303G>C c.(301-303)CAG>CAC p.Q101H NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 101 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 CCATTTCCTTCTGCTCTGGCA 0.438000 CNBD1 168975 broad.mit.edu 37 8 88365873 88365873 + Nonsense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:88365873C>T uc003ydy.2 + 10 1210 c.1162C>T c.(1162-1164)CAA>TAA p.Q388* NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 388 cNMP. ovary(3) 3 GAAAAGATCTCAAAAACTTGT 0.318000 C8orf38 137682 broad.mit.edu 37 8 96053846 96053846 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:96053846G>A uc003yhj.2 + 4 485 c.469G>A c.(469-471)GAT>AAT p.D157N C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.D65N|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.D105N|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.D65N NM_152416 NP_689629 Q330K2 CH038_HUMAN hypothetical protein LOC137682 precursor 157 biosynthetic process mitochondrion transferase activity 0 Breast(36;3.32e-06) GAAAATCGTCGATGAAAGAGT 0.284000 ANGPT1 284 broad.mit.edu 37 8 108306164 108306164 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:108306164C>A uc003ymn.2 - 6 1506 c.1038G>T c.(1036-1038)ATG>ATT p.M346I ANGPT1_uc011lhv.1_Missense_Mutation_p.M146I|ANGPT1_uc003ymo.2_Missense_Mutation_p.M345I|ANGPT1_uc003ymp.3_Missense_Mutation_p.M145I NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 346 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TGCATCTTACCATTTTATATT 0.353000 CSMD3 114788 broad.mit.edu 37 8 114111188 114111188 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:114111188T>G uc003ynu.2 - 5 873 c.714A>C c.(712-714)GAA>GAC p.E238D CSMD3_uc003ynt.2_Missense_Mutation_p.E198D|CSMD3_uc011lhx.1_Missense_Mutation_p.E238D|CSMD3_uc010mcx.1_Missense_Mutation_p.E238D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 238 Extracellular (Potential). 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 CACAAGCATCTTCAGCTGTTA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) GPR20 2843 broad.mit.edu 37 8 142367549 142367549 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:142367549G>A uc003ywf.2 - 2 564 c.475C>T c.(475-477)CGC>TGC p.R159C NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 159 Cytoplasmic (Potential). GSRR -> APAA (in Ref. 1; AAC51302). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CGGCAGCGGCGGGAGCCTTCG 0.692000 EPPK1 83481 broad.mit.edu 37 8 144940957 144940957 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr8:144940957C>T uc003zaa.1 - 1 6478 c.6465G>A c.(6463-6465)GCG>GCA p.A2155A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2155 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGATGAGCTGCGCTACCGTCT 0.502000 LINGO2 158038 broad.mit.edu 37 9 27949741 27949741 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:27949741C>T uc003zqu.1 - 2 1123 c.929G>A c.(928-930)CGC>CAC p.R310H LINGO2_uc010mjf.1_Missense_Mutation_p.R310H|LINGO2_uc003zqv.1_Missense_Mutation_p.R310H NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 310 LRR 11.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CTCAATGGTGCGAAGCTGGGC 0.527000 NPR2 4882 broad.mit.edu 37 9 35808791 35808791 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:35808791G>A uc003zyd.2 + 20 2927 c.2927G>A c.(2926-2928)CGT>CAT p.R976H NPR2_uc010mlb.2_Missense_Mutation_p.R952H|SPAG8_uc003zye.2_Intron NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 976 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AAGATGCCCCGTTATTGTCTT 0.502000 IARS 3376 broad.mit.edu 37 9 95040490 95040490 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:95040490A>G uc004art.1 - 8 1081 c.824T>C c.(823-825)ATC>ACC p.I275T IARS_uc004ars.1_Missense_Mutation_p.I120T|IARS_uc004aru.3_Missense_Mutation_p.I275T|IARS_uc010mqr.2_Missense_Mutation_p.I165T|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 275 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) CCTTTCAAGGATCTCATAGTC 0.348000 CYLC2 1539 broad.mit.edu 37 9 105767266 105767266 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:105767266G>A uc004bbs.2 + 5 423 c.353G>A c.(352-354)GGT>GAT p.G118D NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 118 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) GGTAAGAAAGGTGAAGACAAG 0.219000 C9orf4 23732 broad.mit.edu 37 9 111909347 111909347 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:111909347G>A uc004bdw.1 - 3 599 c.599C>T c.(598-600)TCT>TTT p.S200F NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 200 DOMON. integral to membrane 0 CTTGTCTGAAGAGAATCCAAC 0.403000 ASTN2 23245 broad.mit.edu 37 9 119770444 119770444 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:119770444G>A uc004bjs.1 - 7 1619 c.1518C>T c.(1516-1518)ACC>ACT p.T506T ASTN2_uc004bjr.1_Silent_p.T506T|ASTN2_uc004bjt.1_Silent_p.T455T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 506 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCCATGGGGAGGTGGCATTGA 0.577000 SETX 23064 broad.mit.edu 37 9 135156925 135156925 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr9:135156925G>C uc004cbk.2 - 20 6766 c.6583C>G c.(6583-6585)CTC>GTC p.L2195V SETX_uc004cbj.2_Missense_Mutation_p.L1814V|SETX_uc010mzt.2_Missense_Mutation_p.L1814V NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2195 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CGATGGATGAGTGGAGTAAGA 0.398000 ARHGAP6 395 broad.mit.edu 37 X 11162141 11162141 + Nonsense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chrX:11162141G>C uc004cup.1 - 11 3008 c.2135C>G c.(2134-2136)TCA>TGA p.S712* ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.S712*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.S509*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.S532*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.S534*|ARHGAP6_uc011mif.1_3'UTR NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 712 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CCTTGACTTTGACGACGACAA 0.597000 OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAGEH1 28986 broad.mit.edu 37 X 55478927 55478927 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chrX:55478927A>G uc004dum.2 + 1 390 c.120A>G c.(118-120)GTA>GTG p.V40V NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 40 MAGE. apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCTCTGTGGTAGCGAGCACCC 0.647000 GABRA3 2556 broad.mit.edu 37 X 151514087 151514087 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chrX:151514087G>A uc010ntk.1 - 3 468 c.228C>T c.(226-228)GAC>GAT p.D76D NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 76 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCATAGCCGTCCAGAAGAC 0.468000 MINK1 50488 broad.mit.edu 37 17 4794324 4794324 + Frame_Shift_Del DEL C C - TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:4794324delC uc010vsl.1 + 15 1841 c.1645delC c.(1645-1647)CCCfs p.P549fs MINK1_uc010vsk.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vsm.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vsn.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vso.1_Frame_Shift_Del_p.P494fs|MINK1_uc010vsp.1_Frame_Shift_Del_p.P39fs NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 549 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 GGGGCCTGAGCCCCCCATCCC 0.627 TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:7579470_7579471insG uc002gim.2 - 4 410_411 c.216_217insC c.(214-219)CCCGTGfs p.P72fs TP53_uc002gig.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.P72fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P87fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 72_73 Interaction with WWOX.|Interaction with HRMT1L2. V -> M (in sporadic cancers; somatic mutation).|V -> E (in a sporadic cancer; somatic mutation).|V -> L (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.0?(7)|p.R72fs*51(6)|p.V73L(3)|p.G59fs*23(3)|p.R72C(2)|p.V73fs*76(2)|p.R72H(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) GCAGGGGCCACGGGGGGAGCAG 0.604 111 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) GPR98 84059 broad.mit.edu 37 5 90281206 90281208 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr5:90281206_90281208delGAG uc003kju.2 + 85 18115_18117 c.18019_18021delGAG c.(18019-18021)GAGdel p.E6007del GPR98_uc003kjt.2_In_Frame_Del_p.E3713del|GPR98_uc003kjw.2_In_Frame_Del_p.E1668del|GPR98_uc003kjx.2_In_Frame_Del_p.E35del NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6007 Cytoplasmic (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) TGAGCACACAGAGAGGCGATATC 0.409 AFF3 3899 broad.mit.edu 37 2 100217914 100217915 + Frame_Shift_Ins INS - - G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:100217913_100217914T>TG uc002taf.3 - 12 1573_1574 c.1429_1430A>CA c.(1429-1431)cacfs p.H477fs AFF3_uc002tag.3_Frame_Shift_Ins_p.H452fs|AFF3_uc010fiq.1_Frame_Shift_Ins_p.H452fs|AFF3_uc010yvr.1_Frame_Shift_Ins_p.H605fs|AFF3_uc002tah.1_Frame_Shift_Ins_p.H477fs NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 452 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCTGGAGAAGTGGGGGGGCTTG 0.629 KYNU 8942 broad.mit.edu 37 2 143798211 143798212 + Frame_Shift_Ins INS - - A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr2:143798210_143798211G>GA uc010fnm.3 + 13 1471_1472 c.1255_1256G>GA c.(1255-1257)gaafs p.E419fs KYNU_uc002tvl.3_Frame_Shift_Ins_p.E419fs NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 419 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CCAAGAACTAGAAAAAAGAGGA 0.396 AKAP13 11214 broad.mit.edu 37 15 86118467 86118468 + Frame_Shift_Ins INS - - CT TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr15:86118466_86118467C>CCT uc002blv.1 + 5 937_938 c.767_768C>CCT c.(766-768)accfs p.T256fs AKAP13_uc002blt.1_Frame_Shift_Ins_p.T256fs|AKAP13_uc002blu.1_Frame_Shift_Ins_p.T256fs NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 256 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TATACATTAACCTCTGAGTCTG 0.426 TP53 7157 broad.mit.edu 37 17 7579471 7579472 + Frame_Shift_Ins INS - - G rs56275308 TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c g.chr17:7579470_7579471C>CG uc002gim.2 - 3 410_411 c.216_217G>CG c.(214-219)cccgtgfs p.P72fs TP53_uc002gig.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Ins_p.P72fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Ins_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P87fs NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 72 Interaction with HRMT1L2.|Interaction with WWOX. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V73fs*76(16)|p.R72fs*51(9)|p.0?(8)|p.V73L(6)|p.V73M(4)|p.G59fs*23(3)|p.R72P(3)|p.V73fs*50(3)|p.D57_A76del20(2)|p.V73fs*9(2)|p.R72H(2)|p.R72C(2)|p.P71fs*78(1)|p.P71fs*79(1)|p.E68fs*76(1)|p.P13fs*18(1)|p.P71fs*53(1)|p.D48fs*55(1)|p.S33fs*23(1)|p.V73fs*75(1)|p.R65_P71delRMPEAAP(1)|p.R65fs*38(1)|p.E68_A78del(1)|p.V73E(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)