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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample EPHA8 2046 broad.mit.edu 37 1 22922604 22922604 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:22922604G>T uc001bfx.1 + 9 1828 c.1703G>T c.(1702-1704)TGT>TTT p.C568F NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 568 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCAGGCACTGTGGCTACAGC 0.637 NaN 1 0 8.16277e-20 0.027894 8.86362e-20 40 50 CSMD2 114784 broad.mit.edu 37 1 34209159 34209159 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:34209159G>A uc001bxn.1 - 14 1804 c.1775C>T c.(1774-1776)CCC>CTC p.P592L CSMD2_uc001bxm.1_Missense_Mutation_p.P632L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 592 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGGTAGTTGGGAGACAGGAC 0.572 NaN 0 0 0 0.038147 0 8 102 BNIPL 149428 broad.mit.edu 37 1 151018593 151018593 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:151018593C>A uc001ewl.2 + 9 1162 c.989C>A c.(988-990)GCC>GAC p.A330D BNIPL_uc009wmi.2_Missense_Mutation_p.A248D|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 330 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGGGAGCTGGCCCAACTCATA 0.453 NaN 1 0 7.04047e-22 0.023175 7.72297e-22 37 40 FLG 2312 broad.mit.edu 37 1 152280711 152280711 + Silent SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:152280711G>T uc001ezu.1 - 3 6687 c.6651C>A c.(6649-6651)GCC>GCA p.A2217A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2217 Ser-rich.|Filaggrin 13. 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) TAGAGCTGTCGGCCCAAGAGG 0.552 NaN Ichthyosis 1 0 4.53876e-58 0.048971 5.30344e-58 206 656 ADAM15 8751 broad.mit.edu 37 1 155030474 155030474 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:155030474G>A uc001fgr.1 + 14 1665 c.1564G>A c.(1564-1566)GGG>AGG p.G522R ADAM15_uc001fgq.1_Missense_Mutation_p.G207R|ADAM15_uc010pet.1_Missense_Mutation_p.G506R|ADAM15_uc010peu.1_Missense_Mutation_p.G539R|ADAM15_uc001fgt.1_Missense_Mutation_p.G522R|ADAM15_uc010pev.1_Missense_Mutation_p.G532R|ADAM15_uc001fgs.1_Missense_Mutation_p.G522R|ADAM15_uc001fgu.1_Missense_Mutation_p.G522R|ADAM15_uc001fgw.1_Missense_Mutation_p.G522R|ADAM15_uc001fgv.1_Missense_Mutation_p.G522R|ADAM15_uc001fgx.1_Missense_Mutation_p.G522R|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 522 Extracellular (Potential).|Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GTGCATGCACGGGCGTTGTGC 0.632 NaN 0 0 0 0.027894 0 39 108 F5 2153 broad.mit.edu 37 1 169511786 169511786 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:169511786G>A uc001ggg.1 - 13 2687 c.2542C>T c.(2542-2544)CGT>TGT p.R848C NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 848 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAAAGTAGACGTATCCCTGTG 0.458 NaN 0 0 0 0.048971 0 97 233 HMCN1 83872 broad.mit.edu 37 1 186014962 186014962 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:186014962C>T uc001grq.1 + 41 6676 c.6447C>T c.(6445-6447)GGC>GGT p.G2149G NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2149 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGAAACCAGGCCTCAGTATAT 0.378 NaN 0 0 0 0.021523 0 25 58 HMCN1 83872 broad.mit.edu 37 1 186158668 186158668 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:186158668C>T uc001grq.1 + 107 16795 c.16566C>T c.(16564-16566)CCC>CCT p.P5522P HMCN1_uc001grs.1_Silent_p.P974P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5522 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACTGTCCACCCAATGATTTGG 0.438 NaN 0 0 0 0.048971 0 47 61 RGS13 6003 broad.mit.edu 37 1 192628536 192628536 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:192628536T>C uc001gsj.2 + 7 644 c.363T>C c.(361-363)TTT>TTC p.F121F RGS13_uc001gsk.2_Silent_p.F121F NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 121 RGS. plasma membrane GTPase activator activity|signal transducer activity 0 AAACATGTTTTGAAGAAGCTC 0.353 NaN 0 0 0 0.048971 0 45 25 ZBTB41 360023 broad.mit.edu 37 1 197128821 197128821 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:197128821G>T uc001gtx.1 - 10 2467 c.2398C>A c.(2398-2400)CAG>AAG p.Q800K ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GATACATTCTGTAACATCGTC 0.443 NaN 1 0 5.57489e-27 0.048971 6.2754e-27 56 125 USH2A 7399 broad.mit.edu 37 1 216498861 216498861 + Missense_Mutation SNP C C T rs3820464 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:216498861C>T uc001hku.1 - 6 1316 c.929G>A c.(928-930)CGG>CAG p.R310Q USH2A_uc001hkv.2_Missense_Mutation_p.R310Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 310 Laminin N-terminal.|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) AGGGTGGACCCGCGGGTGGCT 0.532 NaN HNSCC(13;0.011) 0 0 0 0.048971 0 93 60 C1orf95 375057 broad.mit.edu 37 1 226784667 226784667 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:226784667A>G uc010pvn.1 + 2 472 c.367A>G c.(367-369)ATG>GTG p.M123V NM_001003665 NP_001003665 Q69YW2 CA095_HUMAN hypothetical protein LOC375057 123 integral to membrane ovary(1) 1 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GGGCATGGACATGGTCATCCT 0.592 NaN 0 0 0 0.013537 0 13 200 RYR2 6262 broad.mit.edu 37 1 237730002 237730002 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:237730002G>A uc001hyl.1 + 28 3470 c.3350G>A c.(3349-3351)TGG>TAG p.W1117* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1117 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGGTTGGTTGGAGTCGTCCT 0.532 NaN 0 0 0 0.048971 0 114 325 OR2W3 343171 broad.mit.edu 37 1 248059029 248059029 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:248059029G>A uc001idp.1 + 3 410 c.141G>A c.(139-141)CTG>CTA p.L47L OR2W3_uc010pzb.1_Silent_p.L47L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATCATCCTGGTGTCCCGGC 0.592 NaN 0 0 0 0.028581 0 15 343 OR2L8 391190 broad.mit.edu 37 1 248113003 248113003 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:248113003C>T uc001idt.1 + 1 844 c.844C>T c.(844-846)CCA>TCA p.P282S OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATCCTCACCCCAATGCTCAA 0.483 NaN 0 0 0 0.019004 0 32 108 IDI2 91734 broad.mit.edu 37 10 1066766 1066766 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:1066766C>T uc001ifv.1 - 4 372 c.307G>A c.(307-309)GGA>AGA p.G103R C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 103 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) CTCCTCACTCCGATGGCATCC 0.542 NaN 0 0 0 0.014323 0 22 29 CUBN 8029 broad.mit.edu 37 10 16994309 16994309 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:16994309C>T uc001ioo.2 - 33 4987 c.4935G>A c.(4933-4935)CAG>CAA p.Q1645Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1645 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCTGCAGTTCTGATTGTTTG 0.478 NaN 0 0 0 0.048971 0 49 65 MPP7 143098 broad.mit.edu 37 10 28358781 28358782 + Splice_Site DNP CC CC AA TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:28358781_28358782CC>AA uc001iua.1 - 15 1528 c.1124_splice c.e15-1 p.G375_splice MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.G375_splice|MPP7_uc009xla.2_Splice_Site_p.G375_splice|MPP7_uc010qdv.1_Splice_Site NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TCCCACGGGACCTGAAAAACAG 0.46 NaN 0 0 0 0.004672 0 13 16 ADAMTS14 140766 broad.mit.edu 37 10 72520532 72520532 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:72520532C>G uc001jrh.2 + 22 3595 c.3595C>G c.(3595-3597)CCT>GCT p.P1199A ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1202A NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1199 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 TACGCCAGTCCCTGAGGACAA 0.647 NaN 0 0 0 0.059317 0 32 64 DDIT4 54541 broad.mit.edu 37 10 74034625 74034625 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:74034625G>A uc001jsx.1 + 3 580 c.378G>A c.(376-378)CAG>CAA p.Q126Q NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 126 apoptosis pancreas(1) 1 TGGTAAGCCAGGTGGGCAAAG 0.692 NaN OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.048971 0 67 107 KNDC1 85442 broad.mit.edu 37 10 134981802 134981802 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:134981802G>C uc001llz.1 + 3 347 c.346G>C c.(346-348)GGG>CGG p.G116R KNDC1_uc001lma.1_Missense_Mutation_p.G51R NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 116 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGACGTGACCGGGAACACCTT 0.562 NaN 0 0 0 0.048971 0 63 98 DBX1 120237 broad.mit.edu 37 11 20180780 20180780 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:20180780G>A uc001mpw.1 - 2 426 c.426C>T c.(424-426)TTC>TTT p.F142F NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 142 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAGACCCTTCGAAGTAGGGAA 0.602 NaN 0 0 0 0.02938 0 7 128 QSER1 79832 broad.mit.edu 37 11 32954330 32954330 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:32954330G>T uc001mty.2 + 4 1406 c.1139G>T c.(1138-1140)GGG>GTG p.G380V QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 380 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) ACTTTTTCTGGGTCATCTCAG 0.383 NaN 1 0 2.13384e-23 0.048971 2.35269e-23 46 69 TTC17 55761 broad.mit.edu 37 11 43465060 43465060 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:43465060G>A uc001mxi.2 + 17 2451 c.2437G>A c.(2437-2439)GGT>AGT p.G813S TTC17_uc001mxh.2_Missense_Mutation_p.G870S|TTC17_uc010rfj.1_Missense_Mutation_p.G813S|TTC17_uc001mxj.2_Missense_Mutation_p.G640S NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 813 binding ovary(5) 5 GCTGAAGAAAGGTCCCCAGGA 0.488 NaN 0 0 0 0.038147 0 8 97 SSRP1 6749 broad.mit.edu 37 11 57100511 57100511 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:57100511G>A uc001njt.2 - 5 726 c.459C>T c.(457-459)AAC>AAT p.N153N SSRP1_uc010rjq.1_Silent_p.N153N NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 153 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 CTGCGTCATCGTTTTGGTGGA 0.557 NaN 0 0 0 0.048971 0 76 98 MAP3K11 4296 broad.mit.edu 37 11 65375774 65375774 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:65375774C>T uc001oew.2 - 2 1378 c.885G>A c.(883-885)AAG>AAA p.K295K MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.K38K|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 295 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 AGGTGGAGGCCTTGATAACCT 0.627 NaN 0 0 0 0.016522 0 22 63 GRM5 2915 broad.mit.edu 37 11 88583193 88583193 + Silent SNP G G A rs145650472 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:88583193G>A uc001pcq.2 - 2 992 c.792C>T c.(790-792)CTC>CTT p.L264L GRM5_uc009yvm.2_Silent_p.L264L NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 264 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGTGACTTGTGAGCTTCTTCA 0.547 NaN 0 0 0 0.041601 0 27 42 CNTN5 53942 broad.mit.edu 37 11 99944885 99944886 + Missense_Mutation DNP CC CC AA TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:99944885_99944886CC>AA uc001pga.2 + 13 1778_1779 c.1439_1440CC>AA c.(1438-1440)CCC>CAA p.P480Q CNTN5_uc009ywv.1_Missense_Mutation_p.P480Q|CNTN5_uc001pfz.2_Missense_Mutation_p.P480Q|CNTN5_uc001pgb.2_Missense_Mutation_p.P406Q NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 480 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCTTCAGCTCCCACTTTTGCAC 0.366 NaN 0 0 0 0.004672 0 11 8 DYNC2H1 79659 broad.mit.edu 37 11 103124075 103124075 + Silent SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:103124075C>G uc001pho.2 + 66 10248 c.10104C>G c.(10102-10104)CTC>CTG p.L3368L DYNC2H1_uc001phn.1_Silent_p.L3375L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3368 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATTCCGCCTCTTTTTGTCAA 0.373 NaN 0 0 0 0.050027 0 34 52 DDI1 414301 broad.mit.edu 37 11 103908520 103908520 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:103908520C>A uc001phr.2 + 1 1213 c.970C>A c.(970-972)CAA>AAA p.Q324K PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 324 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ACTTGAGGATCAACCCATGGA 0.448 NaN 1 0 1.06522e-23 0.045515 1.18053e-23 46 83 NCAM1 4684 broad.mit.edu 37 11 113145992 113145992 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:113145992G>A uc001pns.2 + 6 748 c.716G>A c.(715-717)AGG>AAG p.R239K uc010rwu.1_5'Flank|NCAM1_uc001pnt.2_Silent_p.K55K P13591 NCAM1_HUMAN SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform; Error:Variant_position_missing_in_P13591_after_alignment axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCTGCAGGAAGGGCCCCGTAG 0.592 NaN 0 0 0 0.038395 0 18 23 MLL 4297 broad.mit.edu 37 11 118348798 118348798 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:118348798C>T uc001pta.2 + 5 3474 c.3451C>T c.(3451-3453)CGA>TGA p.R1151* MLL_uc001ptb.2_Nonsense_Mutation_p.R1151* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1151 CXXC-type. R->A: Impairs DNA-binding. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAAAGGACGTCGATCGAGGCG 0.512 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.021523 0 23 249 PANX3 116337 broad.mit.edu 37 11 124489476 124489476 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:124489476C>T uc001qah.2 + 4 824 c.824C>T c.(823-825)TCC>TTC p.S275F NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 275 Helical; (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GTTAGCCTCTCCAGTGTAGCA 0.458 NaN 0 0 0 0.062417 0 22 47 TULP3 7289 broad.mit.edu 37 12 3040245 3040245 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:3040245G>C uc010seh.1 + 6 616 c.535G>C c.(535-537)GAT>CAT p.D179H TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D179H|TULP3_uc010sei.1_Missense_Mutation_p.D36H NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 179 TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1). G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCAACCAGCTGATAACCTCCT 0.507 NaN 0 0 0 0.048971 0 48 80 KCNA5 3741 broad.mit.edu 37 12 5154246 5154246 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:5154246G>A uc001qni.2 + 1 1162 c.933G>A c.(931-933)ACG>ACA p.T311T NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 311 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CTGGCCCTACGGTGGCACCGC 0.711 NaN 0 0 0 0.048971 0 53 91 LTBR 4055 broad.mit.edu 37 12 6499851 6499851 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:6499851C>T uc001qny.1 + 10 1224 c.1056C>T c.(1054-1056)GGC>GGT p.G352G LTBR_uc010sfc.1_Silent_p.G333G|LTBR_uc001qnz.1_Silent_p.G347G NM_002342 NP_002333 P36941 TNR3_HUMAN lymphotoxin beta receptor precursor 352 Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity lung(2) 2 ATGTCACCGGCGGGTCTATGA 0.562 NaN 0 0 0 0.048971 0 96 98 AICDA 57379 broad.mit.edu 37 12 8758001 8758001 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:8758001G>A uc001qur.2 - 3 316 c.237C>T c.(235-237)ACC>ACT p.T79T AICDA_uc001qup.1_Silent_p.T74T|AICDA_uc001quq.1_Silent_p.T74T|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 79 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) AGGTGAACCAGGTGACGCGGT 0.627 NaN Immune_Deficiency_with_Hyper-IgM 0 0 0 0.01892 0 25 66 C12orf36 283422 broad.mit.edu 37 12 13526293 13526293 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:13526293G>A uc001rbs.1 - 3 480 c.262C>T c.(262-264)CCT>TCT p.P88S NM_182558 NP_872364 hypothetical protein LOC283422 0 BRCA - Breast invasive adenocarcinoma(232;0.198) CCCAGGGGAGGAGCTCGTGCA 0.463 NaN 0 0 0 0.048971 0 63 81 SLCO1C1 53919 broad.mit.edu 37 12 20874968 20874968 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:20874968A>T uc001rej.3 + 9 1361 c.1006A>T c.(1006-1008)ATG>TTG p.M336L SLCO1C1_uc010sii.1_Missense_Mutation_p.M336L|SLCO1C1_uc010sij.1_Missense_Mutation_p.M287L|SLCO1C1_uc009zip.2_Missense_Mutation_p.M170L|SLCO1C1_uc001rei.2_Missense_Mutation_p.M336L|SLCO1C1_uc010sik.1_Missense_Mutation_p.M218L NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 336 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TGCAAAAATAATGGAAATGGC 0.264 NaN 0 0 0 0.024245 0 14 27 KRT75 9119 broad.mit.edu 37 12 52827910 52827910 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:52827910C>T uc001saj.2 - 1 201 c.179G>A c.(178-180)CGC>CAC p.R60H NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 60 Gly-rich.|Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GTAGAGGCTGCGGCTTCCAAA 0.652 NaN 0 0 0 0.058154 0 10 114 KRT6C 286887 broad.mit.edu 37 12 52862934 52862934 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:52862934C>T uc001sal.3 - 9 1655 c.1607G>A c.(1606-1608)GGG>GAG p.G536E NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 536 Tail. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) GAGGCCACCCCCAATGGCTCT 0.592 NaN 0 0 0 0.030593 0 25 72 SPIC 121599 broad.mit.edu 37 12 101880371 101880371 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:101880371C>T uc001tid.2 + 6 728 c.569C>T c.(568-570)ACT>ATT p.T190I SPIC_uc009zua.2_Missense_Mutation_p.T65I|SPIC_uc010svp.1_Missense_Mutation_p.T189I NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 190 ETS. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 AGGAAGCTGACTTACCAGTTC 0.443 NaN 0 0 0 0.016723 0 12 116 STAB2 55576 broad.mit.edu 37 12 104067714 104067714 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:104067714A>G uc001tjw.2 + 23 2587 c.2401A>G c.(2401-2403)AAC>GAC p.N801D NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 801 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AACATGCAATAACAGGATAGA 0.592 NaN 0 0 0 0.045515 0 47 50 STAB2 55576 broad.mit.edu 37 12 104092983 104092983 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:104092983G>A uc001tjw.2 + 34 3878 c.3692G>A c.(3691-3693)AGC>AAC p.S1231N NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1231 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TATTTCCTTAGCTTCTTTCTC 0.473 NaN 0 0 0 0.0333 0 16 26 MLXIP 22877 broad.mit.edu 37 12 122626341 122626341 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:122626341G>A uc001ubq.2 + 17 2742 c.2742G>A c.(2740-2742)AAG>AAA p.K914K MLXIP_uc001ubt.2_Silent_p.K521K NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 914 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGATTGGCAAGAGATTGGGAG 0.622 NaN 0 0 0 0.036044 0 40 73 TMEM132B 114795 broad.mit.edu 37 12 126138270 126138270 + Nonsense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:126138270G>T uc001uhe.1 + 9 2259 c.2251G>T c.(2251-2253)GAG>TAG p.E751* TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E263* NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 751 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGTGGTTGCAGAGGGTGAAGG 0.433 NaN 1 0 1.30916e-28 0.048971 1.48142e-28 50 89 PCDH20 64881 broad.mit.edu 37 13 61987073 61987073 + Nonsense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr13:61987073C>A uc001vid.3 - 2 1523 c.1159G>T c.(1159-1161)GGA>TGA p.G387* PCDH20_uc010thj.1_Nonsense_Mutation_p.G387* NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 360 Cadherin 3.|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) ACACTTCCTCCAATCTTACTG 0.398 NaN 1 0 1.61742e-36 0.048971 1.86959e-36 58 96 KLF5 688 broad.mit.edu 37 13 73636642 73636642 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr13:73636642C>A uc001vje.2 + 2 1229 c.905C>A c.(904-906)CCG>CAG p.P302Q KLF5_uc001vjd.2_Missense_Mutation_p.P211Q NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 302 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TACTTTCCCCCGTCACCACCA 0.502 NaN 1 0 2.89935e-36 0.048971 3.33348e-36 67 63 OR4N2 390429 broad.mit.edu 37 14 20296395 20296395 + Missense_Mutation SNP G G T rs148867085 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:20296395G>T uc010tkv.1 + 1 788 c.788G>T c.(787-789)AGG>ATG p.R263M NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGCCCCTTCAGGGCTTTCCCA 0.458 NaN 1 0 4.6707e-30 0.048971 5.31323e-30 52 73 PRKD1 5587 broad.mit.edu 37 14 30100021 30100021 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:30100021C>T uc001wqh.2 - 10 1780 c.1599G>A c.(1597-1599)GAG>GAA p.E533E NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 533 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGATGGCTATCTCCCACATCC 0.522 NaN 0 0 0 0.047766 0 9 135 FANCM 57697 broad.mit.edu 37 14 45605269 45605269 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:45605269G>A uc001wwd.3 + 1 134 c.35G>A c.(34-36)TGG>TAG p.W12* FANCM_uc001wwc.2_Nonsense_Mutation_p.W12*|FANCM_uc010anf.2_Nonsense_Mutation_p.W12*|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 12 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TTTCAGACGTGGGGCTCAAGT 0.587 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.042209 0 47 81 C14orf104 55172 broad.mit.edu 37 14 50100212 50100212 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:50100212C>A uc001wws.3 - 1 1737 c.1656G>T c.(1654-1656)TTG>TTT p.L552F SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.L552F NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 552 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) AGAGGGGATTCAAATCTCCTT 0.443 NaN Kartagener_syndrome 1 0 3.32936e-07 0.038395 3.45803e-07 17 48 NID2 22795 broad.mit.edu 37 14 52474664 52474664 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:52474664C>T uc001wzo.2 - 19 3978 c.3744G>A c.(3742-3744)TGG>TGA p.W1248* NID2_uc010tqs.1_Nonsense_Mutation_p.W1200*|NID2_uc010tqt.1_Nonsense_Mutation_p.W1248* NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1248 LDL-receptor class B 3. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTTCTCTATTCCAGTCTGTCC 0.239 NaN 0 0 0 0.014758 0 5 54 SLC35F4 341880 broad.mit.edu 37 14 58038711 58038711 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:58038711G>A uc001xdb.1 - 5 942 c.942C>T c.(940-942)ACC>ACT p.T314T SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.T155T NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TGACAATGCCGGTAATTGCCA 0.433 NaN 0 0 0 0.008291 0 9 12 SLC10A1 6554 broad.mit.edu 37 14 70252943 70252943 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:70252943A>G uc001xlr.2 - 2 572 c.438T>C c.(436-438)TAT>TAC p.Y146Y NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 146 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) GGTCCCCATCATAGATCCCCC 0.522 NaN 0 0 0 0.048971 0 56 72 KIAA1409 57578 broad.mit.edu 37 14 94088092 94088092 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:94088092G>A uc001ybv.1 + 28 4131 c.4048G>A c.(4048-4050)GGG>AGG p.G1350R KIAA1409_uc001ybs.1_Missense_Mutation_p.G1328R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1505 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCTTGATATAGGGAATGCAGA 0.438 NaN 0 0 0 0.059317 0 33 64 ZNF839 55778 broad.mit.edu 37 14 102808061 102808061 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:102808061G>A uc001ylo.2 + 8 2331 c.1981G>A c.(1981-1983)GAC>AAC p.D661N ZNF839_uc010awk.1_Missense_Mutation_p.D777N|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Missense_Mutation_p.D586N|ZNF839_uc001yls.2_Missense_Mutation_p.D278N|ZNF839_uc001ylt.2_Missense_Mutation_p.D251N NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 661 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 CAAGGTTTGTGACTTCCACCT 0.622 NaN 0 0 0 0.047766 0 9 120 DUOX2 50506 broad.mit.edu 37 15 45403752 45403752 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:45403752C>T uc010bea.2 - 6 748 c.545G>A c.(544-546)AGC>AAC p.S182N DUOX2_uc001zun.2_Missense_Mutation_p.S182N|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 182 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ATAGATGGCGCTGCCGTCCAG 0.766 NaN 0 0 0 0.009096 0 4 9 DAPK2 23604 broad.mit.edu 37 15 64275760 64275760 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:64275760G>T uc002amr.2 - 3 317 c.286C>A c.(286-288)CGC>AGC p.R96S DAPK2_uc010uim.1_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.R86S NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN death-associated kinase 2 96 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 LUAD - Lung adenocarcinoma(2;0.215) ACGTCGGTGCGGTTCTCATAG 0.652 NaN 1 0 1.52319e-26 0.033182 1.69681e-26 37 66 CELF6 60677 broad.mit.edu 37 15 72608188 72608188 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:72608188C>T uc002auh.2 - 2 653 c.343G>A c.(343-345)GGG>AGG p.G115R uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.G115R|CELF6_uc002aui.2_Missense_Mutation_p.R237K|CELF6_uc002auj.2_5'UTR NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 115 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 GGACTTACCCCTGGCAGGGTC 0.642 NaN 0 0 0 0.004672 0 3 9 OR4F6 390648 broad.mit.edu 37 15 102346616 102346616 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:102346616G>C uc010utr.1 + 1 694 c.694G>C c.(694-696)GGT>CGT p.G232R NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ATCTTCAGGTGGTATATTCAA 0.353 NaN 0 0 0 0.048971 0 54 115 MSLN 10232 broad.mit.edu 37 16 813678 813678 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:813678C>G uc002cjw.1 + 4 217 c.166C>G c.(166-168)CCT>GCT p.P56A MSLN_uc002cjt.1_Missense_Mutation_p.P56A|MSLN_uc002cju.1_Missense_Mutation_p.P56A|MSLN_uc010brd.1_Missense_Mutation_p.P55A|MSLN_uc002cjv.1_Missense_Mutation_p.P56A|MSLN_uc002cjx.1_Missense_Mutation_p.P56A|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 56 ANPP -> TTPH (in Ref. 2; AAC50348). cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) GGCCAACCCACCTAACATTTC 0.662 NaN 0 0 0 0.020292 0 14 12 RNPS1 10921 broad.mit.edu 37 16 2305696 2305696 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:2305696G>A uc002cpt.2 - 7 1254 c.708C>T c.(706-708)ACC>ACT p.T236T RNPS1_uc002cpu.2_Silent_p.T236T|RNPS1_uc002cpv.2_Silent_p.T59T|RNPS1_uc002cpw.2_Silent_p.T236T|RNPS1_uc002cpx.2_Silent_p.T213T|RNPS1_uc010uwa.1_RNA NM_080594 NP_542161 Q15287 RNPS1_HUMAN RNA-binding protein S1, serine-rich domain 236 Necessary for interaction with PNN and exon-skipping.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(1) 1 CCAGCACGGCGGTGGCAGTGA 0.562 NaN 0 0 0 0.043863 0 20 36 SMG1 23049 broad.mit.edu 37 16 18849753 18849753 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:18849753G>A uc002dfm.2 - 44 7483 c.7120C>T c.(7120-7122)CGA>TGA p.R2374* SMG1_uc010bwb.2_Nonsense_Mutation_p.R2234*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R1105* NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2374 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGTGTCATTCGAAAAGGTACT 0.373 NaN 0 0 0 0.02938 0 7 76 NFATC2IP 84901 broad.mit.edu 37 16 28965901 28965901 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:28965901A>T uc002dru.2 + 3 491 c.476A>T c.(475-477)GAT>GTT p.D159V uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 159 cytoplasm|nucleus ovary(1) 1 GAGCTGGCAGATTCGAGTGGT 0.522 NaN 0 0 0 0.048971 0 89 149 IRX3 79191 broad.mit.edu 37 16 54319028 54319028 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:54319028A>G uc002eht.1 - 2 1181 c.765T>C c.(763-765)GAT>GAC p.D255D NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 255 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGTTCTCCAAATCGATctcct 0.403 NaN 0 0 0 0.0333 0 18 23 MMP2 4313 broad.mit.edu 37 16 55525777 55525777 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:55525777A>G uc002ehz.3 + 8 1556 c.1245A>G c.(1243-1245)CAA>CAG p.Q415Q MMP2_uc010vhd.1_Silent_p.Q339Q|MMP2_uc010ccc.2_Silent_p.Q365Q|MMP2_uc002eia.3_5'Flank NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 415 Required for inhibitor TIMP2 binding.|Collagenase-like 2. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGCACTCCCAAGACCCTGGGG 0.577 NaN 0 0 0 0.025465 0 41 75 KARS 3735 broad.mit.edu 37 16 75665679 75665679 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:75665679C>T uc002feq.2 - 8 1038 c.990G>A c.(988-990)ACG>ACA p.T330T KARS_uc002fer.2_Silent_p.T358T|KARS_uc002fes.2_Silent_p.T174T NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 330 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CAGGATTGTGCGTCAAATCAA 0.493 NaN 0 0 0 0.048971 0 87 135 OR1A2 26189 broad.mit.edu 37 17 3101305 3101305 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:3101305A>G uc002fvd.1 + 1 493 c.493A>G c.(493-495)AGT>GGT p.S165G NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GCTCACAGCTAGTTTGTCCTT 0.458 NaN 0 0 0 0.048971 0 49 73 GPR179 440435 broad.mit.edu 37 17 36486976 36486976 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:36486976C>G uc002hpz.2 - 11 2497 c.2476G>C c.(2476-2478)GGA>CGA p.G826R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 826 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGCCTCTCTCCCACCGTCAGG 0.667 NaN 0 0 0 0.008291 0 10 17 C17orf65 339201 broad.mit.edu 37 17 42254079 42254079 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:42254079C>T uc002ifn.2 - 4 1518 c.542G>A c.(541-543)AGG>AAG p.R181K ASB16_uc002ifl.1_Intron|ASB16_uc002ifm.1_Intron NM_178542 NP_848637 Q495Z4 CQ065_HUMAN hypothetical protein LOC339201 181 0 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGGATTTTCCTCAGGACCTT 0.597 NaN 0 0 0 0.048971 0 71 142 MYST2 11143 broad.mit.edu 37 17 47874209 47874209 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:47874209G>A uc002ipm.2 + 3 387 c.261G>A c.(259-261)GTG>GTA p.V87V MYST2_uc002ipl.1_Silent_p.V87V|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Silent_p.V87V|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 87 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CTACCCCAGTGACACCGAAAA 0.488 NaN 0 0 0 0.030593 0 23 263 AKAP1 8165 broad.mit.edu 37 17 55183204 55183204 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:55183204G>A uc002iux.2 + 2 610 c.379G>A c.(379-381)GAC>AAC p.D127N AKAP1_uc010wnl.1_Missense_Mutation_p.D127N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.D127N NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 127 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) ACGCAGAGATGACAGTACAAA 0.522 NaN 0 0 0 0.045705 0 32 47 C17orf47 284083 broad.mit.edu 37 17 56619289 56619289 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:56619289G>A uc002iwq.1 - 2 1736 c.1600C>T c.(1600-1602)CTA>TTA p.L534L SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 534 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGACCTTTTAGCCACCAGATG 0.507 NaN 0 0 0 0.023175 0 41 74 SLC16A5 9121 broad.mit.edu 37 17 73100105 73100105 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:73100105C>T uc002jmr.2 + 6 1566 c.1194C>T c.(1192-1194)TTC>TTT p.F398F SLC16A5_uc002jms.1_Silent_p.F398F|SLC16A5_uc002jmt.2_Silent_p.F398F|SLC16A5_uc002jmu.2_Silent_p.F398F|SLC16A5_uc010wrt.1_Silent_p.F438F NM_004695 NP_004686 O15375 MOT6_HUMAN solute carrier family 16, member 5 398 Helical; (Potential). organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCTATGTTTTCTACATGTCCA 0.493 NaN 0 0 0 0.024245 0 13 117 ONECUT2 9480 broad.mit.edu 37 18 55103602 55103602 + Silent SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr18:55103602C>A uc002lgo.2 + 1 686 c.654C>A c.(652-654)CCC>CCA p.P218P NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 218 organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGGAGATGCCCGGCATGAGCC 0.687 NaN 1 0 0.00741294 0.043863 0.00751784 20 29 SBNO2 22904 broad.mit.edu 37 19 1110743 1110743 + Splice_Site SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:1110743C>A uc002lrk.3 - 26 3266 c.3028_splice c.e26+1 p.D1010_splice SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Splice_Site_p.D953_splice|SBNO2_uc010dse.2_Splice_Site_p.D993_splice|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTGCTCACCCAGGATGCC 0.637 NaN 1 0 1.11015e-26 0.048971 1.24314e-26 52 85 ATCAY 85300 broad.mit.edu 37 19 3905458 3905458 + Nonsense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:3905458G>T uc002lyy.3 + 4 593 c.163G>T c.(163-165)GGA>TGA p.G55* ATCAY_uc010xhz.1_Nonsense_Mutation_p.G61* NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 55 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) AAATTTCAACGGAGCGCATCG 0.498 NaN 1 0 4.35082e-09 0.055883 4.56305e-09 22 23 COL5A3 50509 broad.mit.edu 37 19 10089574 10089574 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:10089574C>T uc002mmq.1 - 40 3043 c.2957G>A c.(2956-2958)GGG>GAG p.G986E NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 986 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CACCGGGTCCCCAGGGCCCCC 0.622 NaN 0 0 0 0.010729 0 11 16 ATG4D 84971 broad.mit.edu 37 19 10663675 10663675 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:10663675C>T uc002mov.2 + 10 1477 c.1357C>T c.(1357-1359)CGG>TGG p.R453W ATG4D_uc010xlh.1_Missense_Mutation_p.R390W|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.R120W NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 453 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCCCACACTCCGGCTCCCTCG 0.617 NaN 0 0 0 0.058154 0 10 83 LPHN1 22859 broad.mit.edu 37 19 14273534 14273534 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:14273534G>C uc010xnn.1 - 6 1390 c.1094C>G c.(1093-1095)CCC>CGC p.P365R LPHN1_uc010xno.1_Missense_Mutation_p.P360R|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 365 Olfactomedin-like.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 GAACTGGTAGGGGTTGGGGAA 0.587 NaN 0 0 0 0.008291 0 11 147 CYP4F2 8529 broad.mit.edu 37 19 15990419 15990419 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:15990419G>A uc002nbs.1 - 11 1359 c.1309C>T c.(1309-1311)CCT>TCT p.P437S CYP4F2_uc010xot.1_Missense_Mutation_p.P288S NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 437 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CGCACCTCAGGGTCCGGCCAC 0.557 NaN 0 0 0 0.048971 0 72 153 CYP4F11 57834 broad.mit.edu 37 19 16035572 16035572 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:16035572C>T uc002nbu.2 - 6 682 c.646G>A c.(646-648)GAG>AAG p.E216K CYP4F11_uc010eab.1_Missense_Mutation_p.E216K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E216K NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 216 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 AGGACTCACTCCTGACAATTG 0.517 NaN 0 0 0 0.047766 0 8 97 MLL4 9757 broad.mit.edu 37 19 36216719 36216719 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:36216719G>A uc010eei.2 + 14 3885 c.3885G>A c.(3883-3885)TGG>TGA p.W1295* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1295 PHD-type 2. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCGCCACTGGGTGAGAGATG 0.612 NaN 0 0 0 0.021553 0 6 0 LILRB2 10288 broad.mit.edu 37 19 54782928 54782929 + Missense_Mutation DNP CC CC TT rs141840014 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:54782928_54782929CC>TT uc002qfb.2 - 6 959_960 c.693_694GG>AA c.(691-696)CCGGGT>CCAAGT p.G232S LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G232S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G232S|LILRB2_uc010yet.1_Missense_Mutation_p.G116S|LILRB2_uc010yeu.1_Intron NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 232 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGACAGGACCCGGCTGCACTG 0.574 NaN 0 0 0 0.004672 0 7 133 BRSK1 84446 broad.mit.edu 37 19 55816212 55816212 + Silent SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:55816212C>A uc002qkg.2 + 14 1918 c.1641C>A c.(1639-1641)GCC>GCA p.A547A BRSK1_uc002qkf.2_Silent_p.A563A|BRSK1_uc002qkh.2_Silent_p.A242A NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 547 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCGGGGGAGCCGCCTGGAGGA 0.701 NaN 1 0 1.836e-18 0.064281 1.98362e-18 37 4 PQLC3 130814 broad.mit.edu 37 2 11300786 11300786 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:11300786G>A uc002rbc.2 + 3 395 c.262G>A c.(262-264)GGG>AGG p.G88R PQLC3_uc010yjk.1_Missense_Mutation_p.G88R NM_152391 NP_689604 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 precursor 88 integral to membrane 0 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) TCATTTTAACGGGAACGTGAA 0.517 NaN 0 0 0 0.023175 0 39 73 C2orf86 51057 broad.mit.edu 37 2 63380641 63380641 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:63380641C>T uc002sch.2 - 16 2593 c.2147G>A c.(2146-2148)TGT>TAT p.C716Y C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.C557Y|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.C524Y NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 716 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TTCTGCATTACAGGTATTAGT 0.299 NaN 0 0 0 0.055883 0 22 25 MPHOSPH10 10199 broad.mit.edu 37 2 71357850 71357850 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:71357850G>T uc002sht.1 + 1 407 c.55G>T c.(55-57)GGC>TGC p.G19C MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.G19C NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 19 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 GACGGAAGTCGGCAAAGCCAC 0.672 NaN 1 0 2.21704e-12 0.016522 2.35972e-12 20 20 NCAPH 23397 broad.mit.edu 37 2 97035169 97035169 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:97035169C>T uc002svz.1 + 17 2181 c.2097C>T c.(2095-2097)CCC>CCT p.P699P NCAPH_uc010yum.1_Silent_p.P675P|NCAPH_uc010fhw.1_Silent_p.P688P|NCAPH_uc010yun.1_Silent_p.P563P|NCAPH_uc002swa.1_Silent_p.P294P NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 699 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) CCAGCCTGCCCCCTGTCATGG 0.428 NaN 0 0 0 0.033182 0 39 76 ZC3H6 376940 broad.mit.edu 37 2 113074110 113074110 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:113074110G>A uc002thq.1 + 6 1205 c.811G>A c.(811-813)GAA>AAA p.E271K NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 271 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 GCACACAGTGGAACACAAAGG 0.318 NaN 0 0 0 0.016723 0 13 16 POTEE 445582 broad.mit.edu 37 2 132021608 132021608 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:132021608C>T uc002tsn.2 + 15 2632 c.2580C>T c.(2578-2580)ACC>ACT p.T860T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T460T|POTEE_uc002tsl.2_Silent_p.T442T|POTEE_uc010fmy.1_Silent_p.T324T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 860 Actin-like. ATP binding 0 ACGGGGTCACCCACACTGTGC 0.617 NaN 0 0 0 0.048971 0 61 121 SPHKAP 80309 broad.mit.edu 37 2 228860382 228860382 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:228860382C>T uc002vpq.2 - 8 4524 c.4477G>A c.(4477-4479)GAG>AAG p.E1493K SPHKAP_uc002vpp.2_Missense_Mutation_p.E1493K|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1493 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTCAGCCTCTGGTACATCT 0.557 NaN 0 0 0 0.014323 0 23 45 COL6A3 1293 broad.mit.edu 37 2 238287358 238287358 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:238287358T>C uc002vwl.2 - 6 2703 c.2418A>G c.(2416-2418)CCA>CCG p.P806P COL6A3_uc002vwo.2_Silent_p.P600P|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.P600P|COL6A3_uc002vwr.2_Silent_p.P399P|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 806 VWFA 4.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAGGCAAAGCTGGCAGGGAGC 0.527 NaN 0 0 0 0.021022 0 39 65 SSTR4 6754 broad.mit.edu 37 20 23016850 23016850 + Missense_Mutation SNP C C T rs4988474 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:23016850C>T uc002wsr.2 + 1 794 c.730C>T c.(730-732)CGC>TGC p.R244C NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 244 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGTGGCCCTGCGCGCTGGCTG 0.622 NaN 0 0 0 0.038147 0 8 157 CST9 128822 broad.mit.edu 37 20 23586272 23586272 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:23586272C>T uc002wtl.2 - 1 339 c.230G>A c.(229-231)TGG>TAG p.W77* NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 77 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) ATCCTCCCTCCATGAACTCAG 0.532 NaN 0 0 0 0.048971 0 86 127 PHF20 51230 broad.mit.edu 37 20 34501269 34501269 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:34501269G>A uc002xek.1 + 11 1771 c.1660G>A c.(1660-1662)GAA>AAA p.E554K PHF20_uc002xei.1_3'UTR|PHF20_uc010gfo.1_3'UTR|PHF20_uc002xej.1_3'UTR NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) aaCCAAACCTGGTAATTTTTT 0.284 NaN 0 0 0 0.010729 0 11 25 TIAM1 7074 broad.mit.edu 37 21 32575281 32575281 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr21:32575281T>C uc002yow.1 - 13 2908 c.2436A>G c.(2434-2436)CTA>CTG p.L812L TIAM1_uc011adk.1_Silent_p.L812L|TIAM1_uc011adl.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 812 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TGTTTTCTATTAGAAATTTCA 0.388 NaN 0 0 0 0.048971 0 81 88 KRTAP10-11 386678 broad.mit.edu 37 21 46066461 46066461 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr21:46066461C>T uc002zfr.3 + 1 131 c.86C>T c.(85-87)CCC>CTC p.P29L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 29 25 X 5 AA repeats of C-C-X(3).|1. keratin filament ovary(1) 1 TGCTGTGAGCCCCCCTGCAGC 0.706 NaN 0 0 0 0.048971 0 55 71 AIFM3 150209 broad.mit.edu 37 22 21335037 21335037 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:21335037C>G uc002ztj.2 + 20 1977 c.1759C>G c.(1759-1761)CTG>GTG p.L587V AIFM3_uc002ztk.2_Intron|AIFM3_uc002ztl.2_Intron|AIFM3_uc011ahx.1_Intron|AIFM3_uc002ztm.1_Intron|LZTR1_uc002ztn.2_Intron|LZTR1_uc002zto.2_5'Flank|LZTR1_uc011ahy.1_5'Flank NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 587 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TTCGTGAAGGCTGTTTGTGCT 0.522 NaN 0 0 0 0.016522 0 21 220 AP1B1 162 broad.mit.edu 37 22 29750657 29750657 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:29750657T>C uc003afj.2 - 7 1104 c.920A>G c.(919-921)AAT>AGT p.N307S AP1B1_uc003afi.2_Missense_Mutation_p.N307S|AP1B1_uc003afk.2_Missense_Mutation_p.N307S|AP1B1_uc003afl.2_Missense_Mutation_p.N307S NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 307 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CACGATGAGATTGATGTTGCG 0.582 NaN 0 0 0 0.008291 0 10 94 CHKB 1120 broad.mit.edu 37 22 51020239 51020239 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:51020239C>T uc003bms.2 - 3 604 c.386G>A c.(385-387)CGG>CAG p.R129Q CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.R8Q|CHKB_uc003bmv.2_Missense_Mutation_p.R129Q|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 129 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CCCCAGCGACCGCTCCGCAAG 0.617 NaN 0 0 0 0.048971 0 49 92 SCN11A 11280 broad.mit.edu 37 3 38888718 38888718 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:38888718C>T uc011ays.1 - 26 5042 c.4843G>A c.(4843-4845)GAG>AAG p.E1615K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1615 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGGGTCCTCACTTTCTTCA 0.368 NaN 0 0 0 0.013537 0 13 144 SCN11A 11280 broad.mit.edu 37 3 38926797 38926797 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:38926797C>G uc011ays.1 - 17 3245 c.3046G>C c.(3046-3048)GAG>CAG p.E1016Q SCN11A_uc010hhn.1_Missense_Mutation_p.E94Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1016 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAACATCTCTCTGGTTGCTTT 0.428 NaN 0 0 0 0.047766 0 8 80 IQCF1 132141 broad.mit.edu 37 3 51929352 51929352 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:51929352G>T uc003dbv.2 - 4 270 c.172C>A c.(172-174)CCC>ACC p.P58T IQCF1_uc003dbq.3_Intron NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 58 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTTTCTGGGGGCTTTCAAGAA 0.562 NaN 1 0 1.2476e-16 0.030593 1.34117e-16 30 42 ITIH4 3700 broad.mit.edu 37 3 52857966 52857966 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:52857966C>A uc003dfz.2 - 10 1262 c.1226G>T c.(1225-1227)CGG>CTG p.R409L ITIH4_uc011bel.1_Missense_Mutation_p.R139L|ITIH4_uc003dfy.2_Missense_Mutation_p.R273L|ITIH4_uc011bem.1_Missense_Mutation_p.R409L|ITIH4_uc011ben.1_Missense_Mutation_p.R409L NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 409 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GAGGCTGTACCGGCCACTTAC 0.582 NaN 1 0 6.90743e-12 0.064281 7.31575e-12 34 75 DNASE1L3 1776 broad.mit.edu 37 3 58186750 58186750 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:58186750C>T uc003djo.1 - 5 617 c.520G>A c.(520-522)GAC>AAC p.D174N DNASE1L3_uc011bfd.1_Missense_Mutation_p.D144N|DNASE1L3_uc003djp.1_Missense_Mutation_p.D174N|DNASE1L3_uc003djq.1_Missense_Mutation_p.D174N NM_004944 NP_004935 Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 precursor 174 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TGTTTCACGTCCGTGTAGACC 0.547 NaN 0 0 0 0.048971 0 100 175 FAM19A4 151647 broad.mit.edu 37 3 68802170 68802170 + Splice_Site SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:68802170C>T uc003dnh.1 - 4 574 c.131_splice c.e4-1 p.G44_splice FAM19A4_uc003dni.1_Splice_Site_p.G44_splice NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TGGTGGTGACCTAGTTGGTAA 0.478 NaN 0 0 0 0.028581 0 16 29 LMOD3 56203 broad.mit.edu 37 3 69168084 69168084 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:69168084C>T uc003dns.2 - 2 1631 c.1422G>A c.(1420-1422)CAG>CAA p.Q474Q LMOD3_uc003dnt.2_Silent_p.Q474Q NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 474 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) ACTTCGGGGCCTGCGATGGCT 0.562 NaN 0 0 0 0.009096 0 4 68 ZDHHC23 254887 broad.mit.edu 37 3 113667649 113667649 + Translation_Start_Site SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:113667649C>G uc003eau.2 + 2 299 c.0C>G c.(-2-2)ATCAT>ATGAT ZDHHC23_uc003eav.2_Intron NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 AGGTGCAAATCATGACACAGA 0.483 NaN 0 0 0 0.030466 0 40 31 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NaN 0 0 0 0.014758 0 5 4 FGFR3 2261 broad.mit.edu 37 4 1806088 1806089 + Missense_Mutation DNP GG GG TT rs121913479 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 GG TT GG GG Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:1806088_1806089GG>TT uc003gdr.3 + 9 1363_1364 c.1107_1108GG>TT c.(1105-1110)GCGGGC>GCTTGC p.G370C FGFR3_uc003gdu.2_Missense_Mutation_p.G372C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G370C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 370 Extracellular (Potential). G -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G370C(125)|p.A369A(6)|p.A369_G370>VC(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTGACGAGGCGGGCAGTGTGTA 0.688 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.004672 0 101 150 MXD4 10608 broad.mit.edu 37 4 2252898 2252898 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:2252898G>A uc003geu.1 - 5 417 c.385C>T c.(385-387)CGC>TGC p.R129C NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 129 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 TGCTCCAGGCGCCGCTTCAGG 0.662 NaN 0 0 0 0.038147 0 8 10 ATP8A1 10396 broad.mit.edu 37 4 42545975 42545975 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:42545975G>A uc003gwr.2 - 20 1913 c.1681C>T c.(1681-1683)CGC>TGC p.R561C ATP8A1_uc003gws.2_Missense_Mutation_p.R546C|ATP8A1_uc011byz.1_Missense_Mutation_p.R546C NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 561 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) GATGGAGTGCGAACAATCACT 0.338 NaN 0 0 0 0.043863 0 16 31 LRRC66 339977 broad.mit.edu 37 4 52862253 52862253 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:52862253C>T uc003gzi.2 - 4 948 c.935G>A c.(934-936)CGC>CAC p.R312H NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 312 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GCTTTTCATGCGATGCAGATG 0.562 NaN 0 0 0 0.041601 0 28 36 TECRL 253017 broad.mit.edu 37 4 65170940 65170940 + Missense_Mutation SNP C C A rs141462797 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:65170940C>A uc003hcv.2 - 7 783 c.674G>T c.(673-675)TGG>TTG p.W225L TECRL_uc003hcw.2_Missense_Mutation_p.W225L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 225 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 AGTAAATCCCCAGTAAAAGGC 0.294 NaN 1 0 0.00116845 0.021553 0.0011906 6 115 EXOSC9 5393 broad.mit.edu 37 4 122723018 122723018 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:122723018A>T uc003iea.2 + 2 211 c.103A>T c.(103-105)ATC>TTC p.I35F EXOSC9_uc003idz.2_Missense_Mutation_p.I35F|EXOSC9_uc003ieb.2_Missense_Mutation_p.I19F|EXOSC9_uc010inp.1_5'Flank NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 35 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 TTATAGGAACATCAGGATCTC 0.318 NaN 0 0 0 0.059317 0 31 51 FAT4 79633 broad.mit.edu 37 4 126241857 126241857 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:126241857G>C uc003ifj.3 + 1 4291 c.4291G>C c.(4291-4293)GAG>CAG p.E1431Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1431 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTCTATTGTTGAGAACATTCC 0.423 NaN 0 0 0 0.010729 0 12 154 ADAM29 11086 broad.mit.edu 37 4 175896928 175896928 + Silent SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:175896928A>T uc003iuc.2 + 5 922 c.252A>T c.(250-252)ACA>ACT p.T84T ADAM29_uc003iud.2_Silent_p.T84T|ADAM29_uc010irr.2_Silent_p.T84T|ADAM29_uc011cki.1_Silent_p.T84T NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 84 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCACCTACACAGACCAGGGTG 0.478 NaN 0 0 0 0.049695 0 20 38 MTNR1A 4543 broad.mit.edu 37 4 187455151 187455151 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:187455151T>C uc003izd.1 - 2 763 c.745A>G c.(745-747)ATT>GTT p.I249V NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 249 Helical; Name=6; (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCCCAGCAAATGGCAAAAAGG 0.527 NaN 0 0 0 0.048971 0 51 109 DNAH5 1767 broad.mit.edu 37 5 13766144 13766144 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:13766144G>A uc003jfd.2 - 59 10084 c.10042C>T c.(10042-10044)CCC>TCC p.P3348S DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3348 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGCCAGGAGGGCATGGTACAG 0.468 NaN Kartagener_syndrome 0 0 0 0.038147 0 8 147 NPR3 4883 broad.mit.edu 37 5 32786414 32786414 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:32786414G>A uc003jhv.2 + 8 1807 c.1589G>A c.(1588-1590)CGG>CAG p.R530Q NPR3_uc011cnz.1_Missense_Mutation_p.R313Q|NPR3_uc003jhu.2_Missense_Mutation_p.R529Q|C5orf23_uc003jhw.1_5'Flank NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 530 Cytoplasmic (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) CGGGAATTACGGGAAGATTCC 0.418 NaN 0 0 0 0.038147 0 7 13 ADAMTS12 81792 broad.mit.edu 37 5 33576479 33576479 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33576479C>G uc003jia.1 - 19 3815 c.3652G>C c.(3652-3654)GAA>CAA p.E1218Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1133Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1218 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGCAGTCCTTCCATTACTGTG 0.542 NaN HNSCC(64;0.19) 0 0 0 0.047766 0 9 145 ADAMTS12 81792 broad.mit.edu 37 5 33576554 33576554 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33576554C>G uc003jia.1 - 19 3740 c.3577G>C c.(3577-3579)GAA>CAA p.E1193Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1108Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1193 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGTGGCATTTCTGTACTTTCC 0.512 NaN HNSCC(64;0.19) 0 0 0 0.043863 0 16 140 ADAMTS12 81792 broad.mit.edu 37 5 33881544 33881544 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33881544G>T uc003jia.1 - 2 332 c.169C>A c.(169-171)CCA>ACA p.P57T ADAMTS12_uc010iuq.1_Missense_Mutation_p.P57T|ADAMTS12_uc003jib.1_Missense_Mutation_p.P57T NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 57 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 ACTCGGACTGGACCCACCACG 0.488 NaN HNSCC(64;0.19) 1 0 6.40141e-05 0.010729 6.55383e-05 12 213 PARP8 79668 broad.mit.edu 37 5 50074470 50074470 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:50074470A>G uc003jon.3 + 10 838 c.656A>G c.(655-657)TAT>TGT p.Y219C PARP8_uc011cpz.1_Missense_Mutation_p.Y111C|PARP8_uc003joo.2_Missense_Mutation_p.Y219C|PARP8_uc003jop.2_Missense_Mutation_p.Y219C NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 219 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CTTACACAGTATTTAAATGGC 0.323 NaN 0 0 0 0.009096 0 4 22 ANKRD55 79722 broad.mit.edu 37 5 55422846 55422846 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:55422846A>G uc003jqu.2 - 8 852 c.700T>C c.(700-702)TGT>CGT p.C234R NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 233 ANK 7. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ATATGTACACATGTCTTCCCA 0.498 NaN 0 0 0 0.048971 0 60 122 ADAMTS6 11174 broad.mit.edu 37 5 64447760 64447760 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:64447760A>G uc003jtp.2 - 25 4071 c.3257T>C c.(3256-3258)GTG>GCG p.V1086A ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 1086 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CACTTTATTCACATCTTTGCA 0.458 NaN 0 0 0 0.030593 0 30 52 POLK 51426 broad.mit.edu 37 5 74880637 74880637 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:74880637T>C uc003kdw.2 + 9 1208 c.1112T>C c.(1111-1113)ATT>ACT p.I371T POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.I371T|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.I281T|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.I281T|POLK_uc003kee.2_Missense_Mutation_p.I371T|POLK_uc003kef.2_Missense_Mutation_p.I281T NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 371 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CTTGGAATTATTACATGTACA 0.333 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.062417 0 23 33 CHD1 1105 broad.mit.edu 37 5 98232075 98232075 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:98232075T>C uc003knf.2 - 11 1713 c.1565A>G c.(1564-1566)TAT>TGT p.Y522C NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 522 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATGAAACAAATAATTCAGAAA 0.363 NaN 0 0 0 0.021553 0 6 75 MEGF10 84466 broad.mit.edu 37 5 126732390 126732390 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:126732390G>A uc003kuh.3 + 7 941 c.579G>A c.(577-579)CAG>CAA p.Q193Q MEGF10_uc010jdc.1_Silent_p.Q193Q|MEGF10_uc010jdd.1_Silent_p.Q193Q|MEGF10_uc003kui.3_Silent_p.Q193Q NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 193 Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACTGTCATCAGAGATGCCAGT 0.642 NaN 0 0 0 0.048971 0 56 80 FNIP1 96459 broad.mit.edu 37 5 131006321 131006321 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:131006321T>C uc003kvs.1 - 15 3085 c.2943A>G c.(2941-2943)TCA>TCG p.S981S RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.S953S NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 981 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CGATTAACTTTGACCTGGAAG 0.373 NaN 0 0 0 0.033182 0 43 60 PCDHA2 56146 broad.mit.edu 37 5 140175218 140175218 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140175218G>A uc003lhd.2 + 1 775 c.669G>A c.(667-669)ACG>ACA p.T223T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.T223T|PCDHA2_uc011czy.1_Silent_p.T223T NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 223 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAGCTCACGGGCACCGTTC 0.418 NaN 0 0 0 0.048971 0 64 72 PCDHA8 56140 broad.mit.edu 37 5 140221088 140221088 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140221088C>A uc003lhs.2 + 1 182 c.182C>A c.(181-183)CCG>CAG p.P61Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P61Q NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 61 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGTGCCGCGCCTGTTC 0.637 NaN 1 0 6.00419e-47 0.048971 6.97784e-47 100 149 PCDHGA3 56112 broad.mit.edu 37 5 140725934 140725934 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140725934G>A uc003ljm.1 + 1 2334 c.2334G>A c.(2332-2334)ACG>ACA p.T778T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T538T|PCDHGA3_uc011dap.1_Silent_p.T778T NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 778 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGACACGCTCATCAGCC 0.522 NaN 0 0 0 0.016723 0 14 207 PCDHGB2 56103 broad.mit.edu 37 5 140740651 140740651 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140740651C>G uc003ljs.1 + 1 949 c.949C>G c.(949-951)CTG>GTG p.L317V 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_uc011dar.1_Missense_Mutation_p.L317V NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 317 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGTTACACTCTGAGTATCGA 0.388 NaN 0 0 0 0.009096 0 4 35 SPRY4 81848 broad.mit.edu 37 5 141694316 141694316 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:141694316C>A uc003lml.2 - 2 617 c.358G>T c.(358-360)GTG>TTG p.V120L SPRY4_uc010jgi.1_Missense_Mutation_p.V143L NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 120 multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCAGCCACGGGTGGTGGT 0.662 NaN Testicular_Cancer_Familial_Clustering_of 1 0 2.73381e-35 0.048971 3.12643e-35 57 94 RBM22 55696 broad.mit.edu 37 5 150075243 150075243 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:150075243C>T uc003lst.2 - 7 693 c.571G>A c.(571-573)GAC>AAC p.D191N NM_018047 NP_060517 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 191 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding 0 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAAGGGGGTCATCTGGATCT 0.413 NaN 0 0 0 0.058154 0 8 52 SLU7 10569 broad.mit.edu 37 5 159835026 159835026 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:159835026C>A uc003lyg.2 - 9 1024 c.869G>T c.(868-870)AGA>ATA p.R290I NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 290 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCATTGCTCTAGTTTTTGG 0.299 NaN 1 0 1.61863e-15 0.048971 1.73137e-15 45 75 SLIT3 6586 broad.mit.edu 37 5 168244341 168244341 + Missense_Mutation SNP C C T rs143627388 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:168244341C>T uc003mab.2 - 8 1177 c.757G>A c.(757-759)GTG>ATG p.V253M SLIT3_uc010jjg.2_Missense_Mutation_p.V253M|SLIT3_uc010jji.2_Missense_Mutation_p.V253M|SLIT3_uc003mac.1_Missense_Mutation_p.V50M NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 253 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATCCGCCACGTTGAAGCCC 0.597 NaN 0 0 0 0.038147 0 8 91 NEDD9 4739 broad.mit.edu 37 6 11190347 11190347 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:11190347C>T uc003mzv.2 - 5 1922 c.1755G>A c.(1753-1755)CAG>CAA p.Q585Q NEDD9_uc010joz.2_Silent_p.Q585Q|NEDD9_uc003mzw.3_Silent_p.Q439Q NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 585 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GCAGCTGTCCCTGGGAGCCAC 0.632 NaN 0 0 0 0.045705 0 32 65 FAM65B 9750 broad.mit.edu 37 6 24850033 24850033 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:24850033C>T uc003neo.1 - 11 1120 c.944G>A c.(943-945)TGG>TAG p.W315* FAM65B_uc011djs.1_Nonsense_Mutation_p.W344*|FAM65B_uc011dju.1_Nonsense_Mutation_p.W349*|FAM65B_uc003nep.2_Nonsense_Mutation_p.W315*|FAM65B_uc011djt.1_Nonsense_Mutation_p.W315* NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 315 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 CACTTACTACCAGGTGATTTC 0.358 NaN 0 0 0 0.024334 0 27 374 HIST1H1C 3006 broad.mit.edu 37 6 26056507 26056507 + Silent SNP G G A rs150897775 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:26056507G>A uc003nfw.2 - 1 193 c.150C>T c.(148-150)GCC>GCT p.A50A NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 50 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GCTCTTTAGAGGCGGCCACAG 0.567 NaN 0 0 0 0.048971 0 55 89 ABT1 29777 broad.mit.edu 37 6 26598817 26598817 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:26598817G>A uc003nii.2 + 3 794 c.763G>A c.(763-765)GGA>AGA p.G255R NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 255 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 CAGGATCTTTGGAGCCCCGCC 0.662 NaN 0 0 0 0.024334 0 26 41 GABBR1 2550 broad.mit.edu 37 6 29589570 29589570 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:29589570C>T uc003nmt.3 - 10 1426 c.1090G>A c.(1090-1092)GGA>AGA p.G364R GABBR1_uc003nmp.3_Missense_Mutation_p.G247R|GABBR1_uc003nms.3_Missense_Mutation_p.G247R|GABBR1_uc003nmu.3_Missense_Mutation_p.G302R|GABBR1_uc011dlr.1_Missense_Mutation_p.G187R|GABBR1_uc011dls.1_Missense_Mutation_p.G364R NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 364 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.G364G(1) ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) TAGAAAAGTCCCACGATGATT 0.527 NaN 0 0 0 0.048971 0 43 54 PSORS1C1 170679 broad.mit.edu 37 6 31107475 31107475 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31107475G>A uc003nsl.1 + 6 499 c.225G>A c.(223-225)CAG>CAA p.Q75Q PSORS1C1_uc010jsj.1_Silent_p.Q24Q|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank NM_014068 NP_054787 Q9UIG5 PS1C1_HUMAN SEEK1 protein 75 ovary(1) 1 CAGCCACCCAGGATGACTGCA 0.547 NaN 0 0 0 0.045705 0 34 33 DDAH2 23564 broad.mit.edu 37 6 31696843 31696843 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31696843G>A uc003nwp.2 - 1 727 c.96C>T c.(94-96)GGC>GGT p.G32G DDAH2_uc003nwq.2_Silent_p.G32G NM_013974 NP_039268 O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 32 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding 0 L-Citrulline(DB00155) GAGCGGGAAGGCCAGCCCCCG 0.677 NaN 0 0 0 0.048971 0 57 75 VARS 7407 broad.mit.edu 37 6 31750569 31750569 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31750569G>A uc003nxe.2 - 15 2239 c.1816C>T c.(1816-1818)CGG>TGG p.R606W VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 606 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) AGCCCGTGCCGCTGCCCAACT 0.607 NaN 0 0 0 0.014758 0 5 73 DST 667 broad.mit.edu 37 6 56479254 56479254 + Missense_Mutation SNP T T G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:56479254T>G uc003pdf.2 - 36 4887 c.4859A>C c.(4858-4860)CAT>CCT p.H1620P DST_uc003pcz.3_Missense_Mutation_p.H1442P|DST_uc011dxj.1_Missense_Mutation_p.H1471P|DST_uc011dxk.1_Missense_Mutation_p.H1482P|DST_uc003pcy.3_Missense_Mutation_p.H1116P|DST_uc003pdb.2_Missense_Mutation_p.H1116P NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.G1620D(1) ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTTTCAACATGTTCTTTCTT 0.368 NaN 0 0 0 0.02938 0 7 15 KHDRBS2 202559 broad.mit.edu 37 6 62442653 62442653 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:62442653T>C uc003peg.2 - 7 1074 c.827A>G c.(826-828)TAC>TGC p.Y276C NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TTCACCCCCGTAGCCATCATC 0.383 NaN 0 0 0 0.030593 0 26 43 CD109 135228 broad.mit.edu 37 6 74473393 74473393 + Silent SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:74473393C>G uc003php.2 + 10 1517 c.1092C>G c.(1090-1092)CTC>CTG p.L364L CD109_uc010kaz.2_Silent_p.L364L|CD109_uc003phq.2_Silent_p.L364L|CD109_uc010kba.2_Silent_p.L287L NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 364 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 AGCCATCTCTCAACTTCACAG 0.318 NaN 0 0 0 0.049695 0 20 35 ORC3L 23595 broad.mit.edu 37 6 88376826 88376826 + Silent SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:88376826A>T uc003pmh.2 + 20 2165 c.2121A>T c.(2119-2121)ACA>ACT p.T707T ORC3L_uc003pmg.2_Silent_p.T708T|ORC3L_uc003pmi.2_Silent_p.T670T|ORC3L_uc011dzo.1_Silent_p.T564T|ORC3L_uc011dzp.1_Silent_p.T564T|ORC3L_uc003pmj.1_RNA NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 707 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) CAAGACTAACATGGGGAGGCT 0.393 NaN 0 0 0 0.062417 0 21 30 REV3L 5980 broad.mit.edu 37 6 111636553 111636553 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:111636553C>G uc003puy.3 - 27 8706 c.8383G>C c.(8383-8385)GAG>CAG p.E2795Q REV3L_uc003pux.3_Missense_Mutation_p.E2717Q|REV3L_uc003puz.3_Missense_Mutation_p.E2717Q|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2795 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAGACTGCTCCTTAGTGGCT 0.343 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.016723 0 14 23 UTRN 7402 broad.mit.edu 37 6 144863938 144863938 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:144863938G>A uc003qkt.2 + 45 6619 c.6527G>A c.(6526-6528)AGA>AAA p.R2176K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2176 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TAGATTTGCAGAGAGGTGCCT 0.393 NaN 0 0 0 0.016723 0 11 13 SNX13 23161 broad.mit.edu 37 7 17843094 17843094 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:17843094A>G uc003stw.1 - 21 2420 c.2207T>C c.(2206-2208)ATG>ACG p.M736T SNX13_uc003stv.2_Missense_Mutation_p.M725T|SNX13_uc010kuc.2_Missense_Mutation_p.M522T|SNX13_uc010kub.2_Missense_Mutation_p.M131T Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 736 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CATTTTGCCCATGTTGTCTGA 0.338 NaN 0 0 0 0.020292 0 14 16 DNAH11 8701 broad.mit.edu 37 7 21721207 21721207 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:21721207T>C uc003svc.2 + 31 5418 c.5387T>C c.(5386-5388)CTT>CCT p.L1796P NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1796 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGGGAGAACTTCCACCTGGA 0.388 NaN Kartagener_syndrome 0 0 0 0.043863 0 19 39 ZAN 7455 broad.mit.edu 37 7 100365467 100365467 + Missense_Mutation SNP G G A rs74848966 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:100365467G>A uc003uwj.2 + 26 5039 c.4874G>A c.(4873-4875)CGG>CAG p.R1625Q ZAN_uc003uwk.2_Missense_Mutation_p.R1625Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R202Q NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1625 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AATGGCCATCGGGTGGCCCTA 0.498 NaN 0 0 0 0.0333 0 18 33 PIK3CG 5294 broad.mit.edu 37 7 106509636 106509636 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:106509636C>T uc003vdv.3 + 2 1715 c.1630C>T c.(1630-1632)CGA>TGA p.R544* PIK3CG_uc003vdu.2_Nonsense_Mutation_p.R544*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.R544* NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 544 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GGACCGGGTTCGAGCAGAAAT 0.542 NaN 0 0 0 0.039052 0 43 66 PLXNA4 91584 broad.mit.edu 37 7 131865461 131865461 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:131865461C>T uc003vra.3 - 19 3752 c.3523G>A c.(3523-3525)GGC>AGC p.G1175S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1175 IPT/TIG 4.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TTCACGTTGCCCCCAGCCACA 0.597 NaN 0 0 0 0.014758 0 4 62 HIPK2 28996 broad.mit.edu 37 7 139416296 139416296 + Missense_Mutation SNP T T A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:139416296T>A uc003vvf.3 - 2 712 c.538A>T c.(538-540)AGC>TGC p.S180C HIPK2_uc003vvd.3_Missense_Mutation_p.S180C NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 180 Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) TCGCCCTCGCTGTTGGAGCCG 0.572 NaN 0 0 0 0.048971 0 66 83 ESYT2 57488 broad.mit.edu 37 7 158528300 158528300 + Splice_Site SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:158528300C>T uc003wob.1 - 20 2547 c.2481_splice c.e20-1 p.S827_splice ESYT2_uc003wny.1_Splice_Site|ESYT2_uc003wnz.1_Splice_Site_p.S266_splice|ESYT2_uc003woa.1_Splice_Site_p.S404_splice NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 GAAATCAAAGCTGAAATAGGA 0.428 NaN 0 0 0 0.048971 0 66 83 PINX1 54984 broad.mit.edu 37 8 10623339 10623339 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:10623339C>T uc003wth.2 - 7 592 c.559G>A c.(559-561)GCA>ACA p.A187T SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Missense_Mutation_p.G161D NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 187 mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TTCAGTGCTGCCATCCGCTTG 0.547 NaN 0 0 0 0.048971 0 162 171 CNBD1 168975 broad.mit.edu 37 8 87951882 87951882 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:87951882A>T uc003ydy.2 + 4 379 c.331A>T c.(331-333)ATA>TTA p.I111L NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 111 ovary(3) 3 TTCTAACAATATAGCTGTCCA 0.348 NaN 0 0 0 0.064281 0 33 58 FER1L6 654463 broad.mit.edu 37 8 125113410 125113410 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:125113410C>A uc003yqw.2 + 38 5162 c.4956C>A c.(4954-4956)AAC>AAA p.N1652K uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1652 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGAGGGCAACTTCAACTGGC 0.433 NaN 1 0 3.73808e-20 0.027356 4.07963e-20 29 50 COL22A1 169044 broad.mit.edu 37 8 139606409 139606409 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:139606409G>A uc003yvd.2 - 63 4913 c.4466C>T c.(4465-4467)CCG>CTG p.P1489L COL22A1_uc011ljo.1_Missense_Mutation_p.P769L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1489 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CATGTACGCCGGGGGCATCTG 0.592 NaN HNSCC(7;0.00092) 0 0 0 0.048971 0 44 52 DENND3 22898 broad.mit.edu 37 8 142151356 142151356 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:142151356G>A uc003yvy.2 + 4 594 c.316G>A c.(316-318)GTG>ATG p.V106M DENND3_uc003yvw.1_Missense_Mutation_p.V119M|DENND3_uc003yvx.2_Silent_p.S184S|DENND3_uc010mep.2_Missense_Mutation_p.V119M NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 106 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTGCTTCGTGCCCTTCGC 0.577 NaN 0 0 0 0.020292 0 14 144 TSNARE1 203062 broad.mit.edu 37 8 143399942 143399942 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:143399942A>G uc003ywk.2 - 7 1065 c.947T>C c.(946-948)GTG>GCG p.V316A TSNARE1_uc011lju.1_Missense_Mutation_p.V316A|TSNARE1_uc003ywj.2_Missense_Mutation_p.V316A|TSNARE1_uc003ywl.3_Missense_Mutation_p.V97A NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 316 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CATCTGCTTCACGGAGCTGGC 0.662 NaN 0 0 0 0.048971 0 62 125 BAI1 575 broad.mit.edu 37 8 143599522 143599522 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:143599522G>A uc003ywm.2 + 18 3024 c.2841G>A c.(2839-2841)CCG>CCA p.P947P NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 947 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGACTCTGCCGTCGGTGACGC 0.647 NaN 0 0 0 0.030466 0 38 65 FBP1 2203 broad.mit.edu 37 9 97365704 97365704 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:97365704G>T uc004auw.3 - 7 1307 c.976C>A c.(976-978)CTC>ATC p.L326I FBP1_uc010mrl.2_Missense_Mutation_p.L326I NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 326 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) AGGAACTCGAGCACGTCGTCG 0.587 NaN OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 4.96729e-08 0.049695 5.18431e-08 18 20 PTCH1 5727 broad.mit.edu 37 9 98240410 98240410 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:98240410G>A uc004avk.3 - 9 1462 c.1274C>T c.(1273-1275)ACG>ATG p.T425M PTCH1_uc010mro.2_Missense_Mutation_p.T274M|PTCH1_uc010mrp.2_Missense_Mutation_p.T274M|PTCH1_uc010mrq.2_Missense_Mutation_p.T274M|PTCH1_uc004avl.3_Missense_Mutation_p.T274M|PTCH1_uc010mrr.2_Missense_Mutation_p.T359M|PTCH1_uc004avm.3_Missense_Mutation_p.T424M|PTCH1_uc010mrs.1_Missense_Mutation_p.T145M NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 425 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GTCCAGGGTCGTGGTGGTGAA 0.532 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.01892 0 26 68 PAPPA 5069 broad.mit.edu 37 9 119065048 119065048 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:119065048G>A uc004bjn.2 + 10 3347 c.2966G>A c.(2965-2967)CGG>CAG p.R989Q PAPPA_uc011lxp.1_Missense_Mutation_p.R684Q|PAPPA_uc011lxq.1_Missense_Mutation_p.R364Q NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 989 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GAACCCAGCCGGTGCTATTTC 0.453 NaN 0 0 0 0.043863 0 18 45 SH2D3C 10044 broad.mit.edu 37 9 130536733 130536733 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:130536733G>C uc004bsc.2 - 2 193 c.51C>G c.(49-51)TTC>TTG p.F17L SH2D3C_uc004bsd.1_5'UTR NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 17 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 CAAAGCCCTTGAACTTGAAGA 0.473 NaN 0 0 0 0.014758 0 5 48 NOTCH1 4851 broad.mit.edu 37 9 139399556 139399556 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:139399556G>A uc004chz.2 - 26 4587 c.4587C>T c.(4585-4587)AAC>AAT p.N1529N NOTCH1_uc004cia.1_Silent_p.N759N NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1529 Extracellular (Potential).|LNR 2. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTACAGGGGGCTGTGGGGGG 0.731 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.038395 0 16 18 BMX 660 broad.mit.edu 37 X 15552335 15552335 + Missense_Mutation SNP T T A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:15552335T>A uc004cww.2 + 12 1208 c.1020T>A c.(1018-1020)AAT>AAA p.N340K BMX_uc004cwx.3_Missense_Mutation_p.N340K|BMX_uc004cwy.3_Missense_Mutation_p.N340K NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 340 SH2. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) CTGTTACTAGTGATAAAAAAG 0.303 NaN 0 0 0 0.028581 0 16 54 KLHL34 257240 broad.mit.edu 37 X 21675187 21675187 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:21675187A>G uc004czz.1 - 1 1262 c.720T>C c.(718-720)TCT>TCC p.S240S NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 240 ovary(1) 1 GCACGAGGCCAGAGCCCGAGT 0.672 NaN 0 0 0 0.021553 0 6 19 KLHL15 80311 broad.mit.edu 37 X 24024257 24024257 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:24024257T>C uc004dba.3 - 3 810 c.554A>G c.(553-555)GAT>GGT p.D185G NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 185 BACK. ovary(1)|breast(1) 2 ATGATCATTATCCAAGTAAGA 0.478 NaN 0 0 0 0.048971 0 79 17 UBQLN2 29978 broad.mit.edu 37 X 56591910 56591910 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:56591910G>A uc004dus.2 + 1 1839 c.1604G>A c.(1603-1605)GGG>GAG p.G535E UBQLN2_uc011moq.1_Intron NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 535 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GGCCCCACGGGGCCTACTGTG 0.622 NaN 0 0 0 0.021553 0 5 1 STAG2 10735 broad.mit.edu 37 X 123196751 123196751 + Splice_Site SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:123196751G>A uc004etz.3 + 17 1978 c.1639_splice c.e17-1 p.V547_splice STAG2_uc004eua.2_Splice_Site_p.V547_splice|STAG2_uc004eub.2_Splice_Site_p.V547_splice|STAG2_uc004euc.2_Splice_Site_p.V547_splice|STAG2_uc004eud.2_Splice_Site_p.V547_splice|STAG2_uc004eue.2_Splice_Site_p.V547_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TGTTCCTTTAGGTGCTTACAG 0.343 NaN 0 0 0 0.037714 0 29 8 C11orf9 745 broad.mit.edu 37 11 61536739 61536739 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:61536739delC uc001nsc.1 + 4 502 c.406delC c.(406-408)CCGfs p.P136fs C11orf9_uc001nse.1_Frame_Shift_Del_p.P127fs NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 136 Pro-rich. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CAGCACACTGCCGGACTCTCC 0.682 NaN NaN NaN NaN NaN NaN 5 4 --- --- PLEKHA9 51054 broad.mit.edu 37 12 45567306 45567306 + Frame_Shift_Del DEL A A - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:45567306delA uc001rom.1 - 3 1380 c.843delT c.(841-843)GTTfs p.V281fs PLEKHA9_uc009zke.2_Frame_Shift_Del_p.V281fs NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) CTGAGTTCCTAACCTGGGCTA 0.418 NaN NaN NaN NaN NaN NaN 33 57 --- --- MLL2 8085 broad.mit.edu 37 12 49425478 49425478 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:49425478delG uc001rta.3 - 39 13010 c.13010delC c.(13009-13011)CCTfs p.P4337fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4337 Pro-rich. 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 ATGGGTGGGAGGGAGCTGGGC 0.617 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 17 16 --- --- FAM186B 84070 broad.mit.edu 37 12 49994518 49994518 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:49994518delC uc001ruo.2 - 4 1078 c.905delG c.(904-906)GGAfs p.G302fs FAM186B_uc010smk.1_Frame_Shift_Del_p.G212fs NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 302 protein complex ovary(1) 1 ATGGTACCTTCCCCCTAAGAT 0.542 NaN NaN NaN NaN NaN NaN 20 226 --- --- MBD1 4152 broad.mit.edu 37 18 47802020 47802020 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr18:47802020delG uc010dow.1 - 8 1179 c.742delC c.(742-744)CGCfs p.R248fs MBD1_uc002lef.2_Frame_Shift_Del_p.R30fs|MBD1_uc002leg.2_Frame_Shift_Del_p.R199fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.R274fs|MBD1_uc002leh.3_Frame_Shift_Del_p.R248fs|MBD1_uc002len.2_Frame_Shift_Del_p.R248fs|MBD1_uc002lei.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lej.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lek.3_Frame_Shift_Del_p.R199fs|MBD1_uc002lel.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lem.3_Frame_Shift_Del_p.R248fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.R248fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.R248fs|MBD1_uc010dox.1_Frame_Shift_Del_p.R248fs|MBD1_uc002leo.2_Frame_Shift_Del_p.R248fs NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 248 CXXC-type 2. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGACCAGGGCGGGGAGGGCGA 0.632 NaN NaN NaN NaN NaN NaN 28 49 --- --- NEB 4703 broad.mit.edu 37 2 152420419 152420419 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:152420419delC uc010fnx.2 - 90 13585 c.13394delG c.(13393-13395)GGCfs p.G4465fs NEB_uc002txr.2_Frame_Shift_Del_p.G888fs NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4465 Nebulin 122. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCCTTGGTGCCCTCCCACGC 0.443 NaN NaN NaN NaN NaN NaN 10 19 --- --- PGAP1 80055 broad.mit.edu 37 2 197781295 197781295 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:197781295delT uc002utw.2 - 3 438 c.324delA c.(322-324)GCAfs p.A108fs PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Frame_Shift_Del_p.A108fs|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 108 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 CTTTTCTAAGTGCAATGGAGC 0.378 NaN NaN NaN NaN NaN NaN 28 26 --- --- COL4A4 1286 broad.mit.edu 37 2 227906897 227906897 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:227906897delC uc010zlt.1 - 37 4126 c.3472delG c.(3472-3474)GATfs p.D1158fs NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1158 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATCCCTGGATCCCCCTGGAGG 0.542 NaN NaN NaN NaN NaN NaN 41 98 --- --- MCTP1 79772 broad.mit.edu 37 5 94207113 94207113 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:94207113delT uc003kkx.2 - 14 2046 c.2046delA c.(2044-2046)AAAfs p.K682fs MCTP1_uc003kkv.2_Frame_Shift_Del_p.K461fs|MCTP1_uc003kkw.2_Frame_Shift_Del_p.K415fs|MCTP1_uc003kkz.2_Frame_Shift_Del_p.K343fs|MCTP1_uc003kku.2_Frame_Shift_Del_p.K198fs NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 682 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AATGGATATCTTTAATGTTGC 0.338 NaN NaN NaN NaN NaN NaN 25 36 --- --- DNAH8 1769 broad.mit.edu 37 6 38810224 38810224 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:38810224delT uc003ooe.1 + 32 4496 c.3896delT c.(3895-3897)CTTfs p.L1299fs NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATGAAATACTTTGGGGAGAT 0.343 NaN NaN NaN NaN NaN NaN 30 72 --- --- TRERF1 55809 broad.mit.edu 37 6 42236492 42236492 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:42236492delC uc003osd.2 - 5 1400 c.837delG c.(835-837)GGGfs p.G279fs TRERF1_uc011duq.1_Frame_Shift_Del_p.G279fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.G279fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 279 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TACGCTGTTGCCCGGCTTGCT 0.512 NaN NaN NaN NaN NaN NaN 64 118 --- --- SLC4A2 6522 broad.mit.edu 37 7 150761698 150761698 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:150761698delC uc003wit.3 + 4 559 c.303delC c.(301-303)GGCfs p.G101fs SLC4A2_uc011kve.1_Frame_Shift_Del_p.G92fs|SLC4A2_uc003wiu.3_Frame_Shift_Del_p.G87fs NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 101 Cytoplasmic (Potential).|Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCCCAGGGCCCAGGACGGA 0.682 NaN NaN NaN NaN NaN NaN 55 75 --- --- MLL3 58508 broad.mit.edu 37 7 151877847 151877847 + Frame_Shift_Del DEL A A - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 A - A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:151877847delA uc003wla.2 - 36 7317 c.7098delT c.(7096-7098)GATfs p.D2366fs MLL3_uc003wkz.2_Frame_Shift_Del_p.D1427fs|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2366 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TATTCTGTGTATCAGTTACTC 0.428 NaN N medulloblastoma NaN NaN NaN NaN NaN 40 28 --- --- C8orf73 642475 broad.mit.edu 37 8 144650796 144650796 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:144650796delG uc010mff.2 - 10 1614 c.1570delC c.(1570-1572)CTGfs p.L524fs C8orf73_uc010mfg.1_Frame_Shift_Del_p.P536fs NM_001100878 NP_001094348 A6NGR9 CH073_HUMAN hypothetical protein LOC642475 524 Leu-rich. binding ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGCTTCCGCAgggggccgcgg 0.532 NaN NaN NaN NaN NaN NaN 2 4 --- --- NOTCH1 4851 broad.mit.edu 37 9 139395013 139395025 + Frame_Shift_Del DEL ACCTTGTGCGTCG ACCTTGTGCGTCG - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:139395013_139395025delACCTTGTGCGTCG uc004chz.2 - 31 5913_5925 c.5913_5925delCGACGCACAAGGT c.(5911-5925)GCCGACGCACAAGGTfs p.A1971fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1971_1975 ANK 2.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCTGGAAGACACCTTGTGCGTCGGCAGACACAG 0.676 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) NaN NaN NaN NaN NaN 36 120 --- --- DDX3X 1654 broad.mit.edu 37 X 41205816 41205818 + In_Frame_Del DEL CAA CAA - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:41205816_41205818delCAA uc004dfe.2 + 14 2411_2413 c.1556_1558delCAA c.(1555-1560)CCAAGT>CGT p.519_520PS>R DDX3X_uc004dff.2_In_Frame_Del_p.519_520PS>R|DDX3X_uc011mkq.1_In_Frame_Del_p.503_504PS>R|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 519_520 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TTTGACTTGCCAAGTGATATTGA 0.36 NaN HNSCC(61;0.18) NaN NaN NaN NaN NaN 10 76 --- --- PCDH19 57526 broad.mit.edu 37 X 99661761 99661762 + Frame_Shift_Ins INS - - G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:99661761_99661762insG uc010nmz.2 - 1 3510_3511 c.1834_1835insC c.(1834-1836)CGCfs p.R612fs PCDH19_uc004efw.3_Frame_Shift_Ins_p.R612fs|PCDH19_uc004efx.3_Frame_Shift_Ins_p.R612fs NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 612 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 AAAGAAGCCGCGGTCGCCCTCG 0.564 NaN NaN NaN NaN NaN NaN 42 11 --- ---