Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CHD5 26038 broad.mit.edu 37 1 6194814 6194814 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:6194814G>T uc001amb.1 - 19 3076 c.2976C>A c.(2974-2976)TGC>TGA p.C992* CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 992 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGTGGTTGCAGCACTTTTTCA 0.572 NA 18 116 3.51602e-12 5.45318e-12 0.008871 1 0 KIAA0090 23065 broad.mit.edu 37 1 19566877 19566877 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:19566877C>T uc001bbo.2 - 7 743 c.700G>A c.(700-702)GTC>ATC p.V234I KIAA0090_uc001bbp.2_Missense_Mutation_p.V234I|KIAA0090_uc001bbq.2_Missense_Mutation_p.V234I|KIAA0090_uc001bbr.2_Missense_Mutation_p.V212I NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 234 Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) CACACCAGGACAGCCTCATCC 0.552 GBM(4;72 124 25802 30195) NA 15 22 0 0 0.004007 0 0 HSPG2 3339 broad.mit.edu 37 1 22149978 22149978 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:22149978C>T uc001bfj.2 - 97 13047 c.13007G>A c.(13006-13008)GGA>GAA p.G4336E LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Missense_Mutation_p.G353E|HSPG2_uc009vqd.2_Missense_Mutation_p.G4337E NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 4336 Laminin G-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCAGGGGCTCCGCCTGCCGG 0.697 NA 2 2 0 0 0.009096 0 0 LCK 3932 broad.mit.edu 37 1 32741606 32741606 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:32741606C>G uc001bux.2 + 7 711 c.573C>G c.(571-573)TTC>TTG p.F191L LCK_uc001buy.2_Missense_Mutation_p.F191L|LCK_uc001buz.2_Missense_Mutation_p.F191L|LCK_uc010ohc.1_Missense_Mutation_p.F235L|LCK_uc001bva.2_Missense_Mutation_p.F249L NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 191 SH2.|Interaction with PTPRH. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ACGGTGGCTTCTACATCTCCC 0.552 NA T TRB@ T-ALL 29 24 0 0 0.009535 0 0 CSMD2 114784 broad.mit.edu 37 1 34631410 34631410 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:34631410C>T uc001bxn.1 - 1 34 c.5G>A c.(4-6)AGG>AAG p.R2K CSMD2_uc001bxm.1_5'Flank|C1orf94_uc001bxs.3_5'Flank NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTTATGAGCCTCATTCACAA 0.572 NA 17 23 0 0 0.007413 0 0 EIF2C3 192669 broad.mit.edu 37 1 36501854 36501854 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:36501854C>A uc001bzp.2 + 14 2084 c.1828C>A c.(1828-1830)CCT>ACT p.P610T EIF2C3_uc001bzq.2_Missense_Mutation_p.P376T NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 610 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGGAAAGAAGCCTTCTATTGC 0.378 Colon(144;60 2363 31043 40539) NA 16 67 3.99206e-14 6.45891e-14 0.007413 1 0 GRIK3 2899 broad.mit.edu 37 1 37271752 37271752 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:37271752A>G uc001caz.2 - 14 2402 c.2267T>C c.(2266-2268)ATC>ACC p.I756T GRIK3_uc001cba.1_Missense_Mutation_p.I756T NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 756 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAGGCCCCCGATCTGGGTGAG 0.662 NA 16 29 0 0 0.006122 0 0 SNIP1 79753 broad.mit.edu 37 1 38006344 38006344 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:38006344G>A uc001cbi.2 - 3 413 c.340C>T c.(340-342)CAT>TAT p.H114Y SNIP1_uc010oid.1_Intron NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 114 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) CTCCGGGGATGATCCTCACGC 0.463 NA 7 51 0 0 0.00308 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398461 47398461 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:47398461C>T uc001cqp.3 - 11 1387 c.1336G>A c.(1336-1338)GCT>ACT p.A446T CYP4A11_uc001cqq.2_Missense_Mutation_p.A446T NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 446 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GGCAGGAAAGCGTGGCTGTGT 0.517 NA 57 282 0 0 0.01441 0 0 CACHD1 57685 broad.mit.edu 37 1 65157011 65157011 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:65157011A>T uc001dbo.1 + 27 3544 c.3439A>T c.(3439-3441)AGC>TGC p.S1147C CACHD1_uc001dbp.1_Missense_Mutation_p.S902C|CACHD1_uc001dbq.1_Missense_Mutation_p.S902C|CACHD1_uc010opa.1_Missense_Mutation_p.S391C NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1198 Cytoplasmic (Potential). calcium ion transport integral to membrane ovary(2) 2 TCTAGGTTACAGCACCATGAG 0.483 NA 18 45 0 0 0.007413 0 0 ELTD1 64123 broad.mit.edu 37 1 79383572 79383572 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:79383572G>T uc001diq.3 - 11 1781 c.1625C>A c.(1624-1626)GCC>GAC p.A542D NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 542 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AACTACCACGGCTGGGCTTAG 0.373 NA 21 129 7.87624e-14 1.26175e-13 0.00278 1 0 LPHN2 23266 broad.mit.edu 37 1 82416126 82416126 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:82416126G>A uc001dit.3 + 7 1633 c.1452G>A c.(1450-1452)AGG>AGA p.R484R LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.R484R|LPHN2_uc001div.2_Silent_p.R484R|LPHN2_uc009wcd.2_Silent_p.R484R|LPHN2_uc001diw.2_Silent_p.R55R NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 484 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGACACAAAGGGGAATGATGG 0.393 NA 7 50 0 0 0.00308 0 0 C1orf52 148423 broad.mit.edu 37 1 85724262 85724262 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:85724262T>C uc001dkv.2 - 2 459 c.420A>G c.(418-420)CCA>CCG p.P140P C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Silent_p.P140P NM_198077 NP_932343 Q8N6N3 CA052_HUMAN hypothetical protein LOC148423 140 ovary(1) 1 all cancers(265;0.0105)|Epithelial(280;0.0293) TAGCATTCTGTGGAGCATCAT 0.478 NA 73 140 0 0 0.01441 0 0 CLCA1 1179 broad.mit.edu 37 1 86954799 86954799 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:86954799G>A uc001dlt.2 + 8 1432 c.1303G>A c.(1303-1305)GTC>ATC p.V435I CLCA1_uc001dls.1_Missense_Mutation_p.V374I NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 435 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CATCCACACAGTCGCTTTGGG 0.463 NA 8 34 0 0 0.00308 0 0 BCAS2 10286 broad.mit.edu 37 1 115124154 115124154 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:115124154T>C uc001efa.2 - 1 112 c.59A>G c.(58-60)GAT>GGT p.D20G DENND2C_uc001eez.2_Intron NM_005872 NP_005863 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 20 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding large_intestine(1) 1 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAACCTTGATCAAAATACGG 0.547 NA 8 19 0 0 0.006214 0 0 DENND2C 163259 broad.mit.edu 37 1 115168229 115168229 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:115168229C>A uc001efd.1 - 4 1079 c.377G>T c.(376-378)AGC>ATC p.S126I DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.S126I NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 126 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTTTACAGCTTTCAATTTC 0.363 NA 11 85 6.40141e-05 7.65967e-05 0.010729 1 0 FLG 2312 broad.mit.edu 37 1 152275876 152275876 + Missense_Mutation SNP C C T rs145079750 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:152275876C>T uc001ezu.1 - 3 11522 c.11486G>A c.(11485-11487)CGT>CAT p.R3829H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3829 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCATGGTGACGCGACCCTGA 0.587 NA Ichthyosis 28 321 0 0 0.004878 0 0 FLG 2312 broad.mit.edu 37 1 152275883 152275883 + Missense_Mutation SNP C C A rs140464988 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:152275883C>A uc001ezu.1 - 3 11515 c.11479G>T c.(11479-11481)GGG>TGG p.G3827W NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3827 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACGCGACCCTGAGTGCCTG 0.597 NA Ichthyosis 33 337 3.61848e-18 6.29357e-18 0.007835 1 0 FLG 2312 broad.mit.edu 37 1 152282768 152282769 + Missense_Mutation DNP GG GG TT TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:152282768_152282769GG>TT uc001ezu.1 - 3 4629_4630 c.4593_4594CC>AA c.(4591-4596)TCCCAT>TCAAAT p.H1532N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1532 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCCCATGGGAGGCATCAG 0.559 NA Ichthyosis 120 356 0 0 0.004672 0 0 LCE2C 353140 broad.mit.edu 37 1 152648564 152648564 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:152648564C>A uc001fah.2 + 2 128 c.73C>A c.(73-75)CCA>ACA p.P25T NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 25 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) cccaaaatgtccacctaagtg 0.418 NA 43 73 2.35958e-20 4.2247e-20 0.009718 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156955931 156955931 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:156955931G>A uc001fqo.2 - 2 1107 c.67C>T c.(67-69)CCA>TCA p.P23S ARHGEF11_uc001fqn.2_Missense_Mutation_p.P23S NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 23 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGCGCTCTGGTGCAGAATCT 0.488 NA 36 64 0 0 0.00623 0 0 CD5L 922 broad.mit.edu 37 1 157805822 157805822 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:157805822A>G uc001frk.3 - 3 322 c.179T>C c.(178-180)GTG>GCG p.V60A NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 60 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCGGCACAACACAGCCACGTC 0.592 NA 24 160 0 0 0.00278 0 0 OR10R2 343406 broad.mit.edu 37 1 158450371 158450371 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:158450371G>T uc010pik.1 + 1 704 c.704G>T c.(703-705)TGT>TTT p.C235F uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 235 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) CTGTTTATCTGTGTTTCTTAT 0.443 NA 50 65 6.08268e-21 1.09309e-20 0.01441 1 0 CRP 1401 broad.mit.edu 37 1 159683541 159683541 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:159683541C>A uc001ftw.2 - 2 553 c.449G>T c.(448-450)AGC>ATC p.S150I CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 150 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CAAGATGATGCTTGCTTCTGC 0.552 NA 80 293 3.05217e-42 5.82905e-42 0.01441 1 0 TNR 7143 broad.mit.edu 37 1 175365799 175365799 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:175365799G>A uc001gkp.1 - 3 1202 c.1121C>T c.(1120-1122)CCT>CTT p.P374L TNR_uc009wwu.1_Missense_Mutation_p.P374L|TNR_uc010pmz.1_Silent_p.A339A NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 374 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCAATCTCCAGGCACCCGCTG 0.592 NA 18 45 0 0 0.00499 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564173 176564173 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:176564173T>A uc001gkz.2 + 3 2597 c.1433T>A c.(1432-1434)CTT>CAT p.L478H PAPPA2_uc001gky.1_Missense_Mutation_p.L478H|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 478 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TACCCACGACTTGAGGTTCTC 0.537 NA 30 57 0 0 0.009535 0 0 CACNA1E 777 broad.mit.edu 37 1 181725204 181725204 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:181725204G>A uc001gow.2 + 29 4267 c.4102G>A c.(4102-4104)GTC>ATC p.V1368I CACNA1E_uc009wxs.2_Missense_Mutation_p.V1256I|CACNA1E_uc001gox.1_Missense_Mutation_p.V594I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V594I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1368 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CCTCTTCACCGTCTCCACAGG 0.517 NA 8 25 0 0 0.004482 0 0 C1orf26 54823 broad.mit.edu 37 1 185191096 185191096 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:185191096T>C uc001grg.3 + 15 2351 c.2237T>C c.(2236-2238)CTT>CCT p.L746P C1orf26_uc001grh.3_Missense_Mutation_p.L746P NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 746 0 AGTTCTCATCTTCCCCAACCC 0.363 NA 32 241 0 0 0.012213 0 0 HMCN1 83872 broad.mit.edu 37 1 186158963 186158963 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:186158963C>A uc001grq.1 + 107 17090 c.16861C>A c.(16861-16863)CAG>AAG p.Q5621K HMCN1_uc001grs.1_Missense_Mutation_p.Q1073K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5621 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CATTGAATATCAGACCACATT 0.453 NA 13 97 0.00010058 0.000118315 0.013537 1 0 RGS1 5996 broad.mit.edu 37 1 192545461 192545461 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:192545461G>T uc001gsi.1 + 2 250 c.184G>T c.(184-186)GAA>TAA p.E62* RGS1_uc010pou.1_Nonsense_Mutation_p.E62* NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 62 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) CCCACATCTGGAATCTGGAAT 0.318 NA 27 57 3.1745e-13 5.00317e-13 0.008361 1 0 RGS1 5996 broad.mit.edu 37 1 192547461 192547461 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:192547461C>A uc001gsi.1 + 4 456 c.390C>A c.(388-390)CCC>CCA p.P130P RGS1_uc010pou.1_Silent_p.P130P NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 130 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) ATCTTTTGCCCTGTAAAGCAG 0.368 NA 70 139 7.46257e-40 1.41964e-39 0.01441 1 0 DENND1B 163486 broad.mit.edu 37 1 197621405 197621405 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:197621405T>A uc001guf.3 - 7 745 c.407A>T c.(406-408)CAC>CTC p.H136L DENND1B_uc010ppe.1_Missense_Mutation_p.H136L|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.H126L|DENND1B_uc001gug.3_5'UTR NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 136 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TGGTACTGGGTGGTTATACAG 0.323 NA 11 47 0 0 0.010729 0 0 LGR6 59352 broad.mit.edu 37 1 202245537 202245537 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:202245537C>A uc001gxu.2 + 5 532 c.532C>A c.(532-534)CCT>ACT p.P178T LGR6_uc001gxv.2_Missense_Mutation_p.P126T|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 178 LRR 4.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 CACGGAGATCCCTGTCAGGGC 0.627 NA 15 26 1.3612e-06 1.78681e-06 0.003163 1 0 USH2A 7399 broad.mit.edu 37 1 216369927 216369927 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:216369927G>T uc001hku.1 - 19 4606 c.4219C>A c.(4219-4221)CCT>ACT p.P1407T USH2A_uc001hkv.2_Missense_Mutation_p.P1407T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1407 Extracellular (Potential).|Fibronectin type-III 4. 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) GACTGTTGAGGTGATTGTTCA 0.388 NA HNSCC(13;0.011) 32 89 1.45844e-13 2.32871e-13 0.013726 1 0 OBSCN 84033 broad.mit.edu 37 1 228412410 228412410 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:228412410G>T uc009xez.1 + 9 2948 c.2904G>T c.(2902-2904)CGG>CGT p.R968R OBSCN_uc001hsn.2_Silent_p.R968R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 968 Ig-like 9. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGGCCAGCGGCTCTCCTTCC 0.612 NA 10 23 7.48243e-07 9.87518e-07 0.006214 1 0 HEATR1 55127 broad.mit.edu 37 1 236746130 236746130 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:236746130C>A uc001hyd.1 - 19 2593 c.2468G>T c.(2467-2469)AGG>ATG p.R823M HEATR1_uc009xgh.1_Missense_Mutation_p.R66M NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 823 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CAGATAGTCCCTGCTGTCTTC 0.423 NA 20 42 1.40151e-16 2.36171e-16 0.010504 1 0 GREM2 64388 broad.mit.edu 37 1 240656615 240656615 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:240656615G>T uc001hys.2 - 2 441 c.161C>A c.(160-162)GCC>GAC p.A54D NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 54 BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CTGGCTGGAGGCCAGCACCTC 0.667 NA 7 33 1.06961e-07 1.45911e-07 0.00308 1 0 ZNF238 10472 broad.mit.edu 37 1 244218618 244218618 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:244218618G>A uc001iae.2 + 1 2037 c.1515G>A c.(1513-1515)TTG>TTA p.L505L ZNF238_uc001iad.3_Silent_p.L514L|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 505 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) CACTGAGCTTGCCTACTGTCA 0.383 NA 21 87 0 0 0.003954 0 0 ZNF124 7678 broad.mit.edu 37 1 247319988 247319988 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:247319988A>G uc001ick.2 - 4 1075 c.936T>C c.(934-936)CAT>CAC p.H312H ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Silent_p.H250H NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 312 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TCTCTCCAGTATGAGTCCTTT 0.413 NA 37 80 0 0 0.00874 0 0 VN1R5 317705 broad.mit.edu 37 1 247419801 247419801 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:247419801A>G uc010pyu.1 + 2 428 c.428A>G c.(427-429)CAG>CGG p.Q143R NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 143 Helical; Name=4; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) AGTGTGCTCCAGGCCATCATC 0.483 GBM(98;63 1399 4825 21305 33017) NA 17 109 0 0 0.006122 0 0 OR2B11 127623 broad.mit.edu 37 1 247614347 247614347 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:247614347C>A uc010pyx.1 - 1 938 c.938G>T c.(937-939)TGG>TTG p.W313L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACAGAGCCTCCAGATCCTGGC 0.458 NA 96 298 4.04957e-52 7.76434e-52 0.01441 1 0 OR1C1 26188 broad.mit.edu 37 1 247921653 247921653 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:247921653C>A uc010pza.1 - 1 56 c.56G>T c.(55-57)AGC>ATC p.S19I NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTCTGCTGAGCTAGGAAGTCC 0.423 NA 7 19 2.0095e-06 2.59582e-06 0.001984 1 0 OR2T2 401992 broad.mit.edu 37 1 248616419 248616419 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr1:248616419C>A uc001iek.1 + 1 321 c.321C>A c.(319-321)ACC>ACA p.T107T NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTACCTGACCCTGATTGGAG 0.547 NA 31 162 1.99505e-19 3.54595e-19 0.012213 1 0 C10orf18 54906 broad.mit.edu 37 10 5781857 5781857 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:5781857C>A uc001iij.2 + 13 2349 c.1724C>A c.(1723-1725)TCT>TAT p.S575Y C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 575 ovary(1)|central_nervous_system(1) 2 AAAGAAAATTCTTTGCGAGGT 0.378 NA 16 118 5.03518e-11 7.59175e-11 0.007413 1 0 USP6NL 9712 broad.mit.edu 37 10 11505455 11505455 + Nonsense_Mutation SNP G G T rs35440878 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:11505455G>T uc001ikt.3 - 15 1793 c.1472C>A c.(1471-1473)TCA>TAA p.S491* USP6NL_uc001iks.1_Nonsense_Mutation_p.S508* NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 491 intracellular Rab GTPase activator activity 0 TGAGACGTCTGACGGTTTATT 0.527 NA 23 143 1.55469e-16 2.61081e-16 0.00333 1 0 CUBN 8029 broad.mit.edu 37 10 16955844 16955844 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:16955844G>T uc001ioo.2 - 48 7551 c.7499C>A c.(7498-7500)GCC>GAC p.A2500D NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2500 CUB 18. 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) CGGATGCGTGGCCAGCCTCAG 0.502 NA 28 66 9.65021e-13 1.5063e-12 0.010818 1 0 C10orf68 79741 broad.mit.edu 37 10 33135305 33135305 + Missense_Mutation SNP G G T rs144109242 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:33135305G>T uc001iwn.3 + 17 1808 c.1335G>T c.(1333-1335)GAG>GAT p.E445D C10orf68_uc001iwl.1_Missense_Mutation_p.E404D|C10orf68_uc001iwm.1_Missense_Mutation_p.E449D|C10orf68_uc010qei.1_Missense_Mutation_p.E421D|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 445 skin(2)|ovary(1) 3 ATTCTATAGAGACTGATAAAG 0.284 NA 7 45 8.12818e-05 9.60783e-05 0.001984 1 0 ITGB1 3688 broad.mit.edu 37 10 33209284 33209284 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:33209284G>A uc001iws.3 - 10 1294 c.1158C>T c.(1156-1158)AAC>AAT p.N386N ITGB1_uc001iwp.3_Silent_p.N386N|ITGB1_uc001iwq.3_Silent_p.N386N|ITGB1_uc001iwr.3_Silent_p.N386N|ITGB1_uc001iwt.3_Silent_p.N386N|ITGB1_uc001iwu.1_Silent_p.N386N NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 386 Extracellular (Potential). EN -> DG (in Ref. 6; AAI13902). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACAATTTGCCGTTTTCCAAAA 0.363 NA 17 45 0 0 0.004007 0 0 GDF2 2658 broad.mit.edu 37 10 48414122 48414122 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:48414122C>G uc001jfa.1 - 2 909 c.746G>C c.(745-747)AGA>ACA p.R249T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 249 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GGGCAGGTTTCTGGAACCTGG 0.557 NA 5 27 0 0 0.000602 0 0 GDF2 2658 broad.mit.edu 37 10 48416440 48416440 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:48416440G>A uc001jfa.1 - 1 417 c.254C>T c.(253-255)CCG>CTG p.P85L NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 85 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GTACTGCGGCGGCTCCACCCT 0.542 NA 6 42 0 0 0.00308 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968213 64968213 + Silent SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:64968213G>C uc001jmn.2 - 10 3516 c.3216C>G c.(3214-3216)CGC>CGG p.R1072R JMJD1C_uc001jml.2_Silent_p.R853R|JMJD1C_uc001jmm.2_Silent_p.R784R|JMJD1C_uc010qiq.1_Silent_p.R890R|JMJD1C_uc009xpi.2_Silent_p.R890R|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.R109R NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1072 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CTGATACTGAGCGTTCTACAT 0.398 NA 29 196 0 0 0.007291 0 0 ECD 11319 broad.mit.edu 37 10 74899485 74899485 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:74899485T>A uc001jtn.2 - 10 1381 c.1138A>T c.(1138-1140)ATG>TTG p.M380L ECD_uc009xqx.2_Missense_Mutation_p.M413L|ECD_uc009xqy.2_Missense_Mutation_p.M337L|ECD_uc001jto.2_Missense_Mutation_p.M79L NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 380 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) CCAGGGCTCATAGCAAGAGAA 0.323 NA 75 167 0 0 0.01441 0 0 TTC18 118491 broad.mit.edu 37 10 75029452 75029452 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:75029452C>A uc009xrc.2 - 26 3278 c.3157G>T c.(3157-3159)GAG>TAG p.E1053* TTC18_uc001jty.2_Nonsense_Mutation_p.E1053*|TTC18_uc001jtv.3_Nonsense_Mutation_p.E157*|TTC18_uc001jtw.3_Nonsense_Mutation_p.E127*|TTC18_uc001jtx.2_Nonsense_Mutation_p.E404* NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 1053 TPR 7. binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AGAGCATCCTCAGCCTCTGTG 0.423 NA 6 36 0.00198382 0.0022108 0.001984 1 0 GHITM 27069 broad.mit.edu 37 10 85904649 85904649 + Silent SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:85904649C>G uc001kcs.1 + 5 564 c.360C>G c.(358-360)GTC>GTG p.V120V GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Silent_p.V50V NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 120 Mitochondrial intermembrane (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 CTCAGTATGTCAAGGATAGAA 0.294 NA 9 86 0 0 0.006214 0 0 GRID1 2894 broad.mit.edu 37 10 87407154 87407155 + Splice_Site DNP CC CC AA TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:87407154_87407155CC>AA uc001kdl.1 - 13 2099 c.1998_splice c.e13-1 p.R666_splice GRID1_uc009xsu.1_Splice_Site|GRID1_uc010qmf.1_Splice_Site_p.R237_splice|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CCTGGAAAGTCCTGAAATGCAG 0.53 NA Multiple Myeloma(13;0.14) 20 105 0 0 0.004672 0 0 BTAF1 9044 broad.mit.edu 37 10 93788545 93788545 + Splice_Site SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:93788545A>T uc001khr.2 + 38 5505 c.5407_splice c.e38-2 p.D1803_splice NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ATTTTTCTTAAGGATGGCAAA 0.308 NA 4 42 0 0 0.009096 0 0 TLL2 7093 broad.mit.edu 37 10 98192670 98192671 + Missense_Mutation DNP GG GG AT TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:98192670_98192671GG>AT uc001kml.1 - 4 639_640 c.413_414CC>AT c.(412-414)GCC>GAT p.A138D TLL2_uc009xvf.1_Intron NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 138 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCTTGGCTGCGGCATGCAAGGT 0.55 NA 13 44 0 0 0.004672 0 0 HPSE2 60495 broad.mit.edu 37 10 100995342 100995342 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:100995342G>C uc001kpn.1 - 1 278 c.218C>G c.(217-219)ACA>AGA p.T73R HPSE2_uc009xwc.1_Missense_Mutation_p.T63R|HPSE2_uc001kpo.1_Missense_Mutation_p.T63R|HPSE2_uc009xwd.1_Missense_Mutation_p.T63R NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 73 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CTCATTGACTGTCCTGACTGG 0.502 NA 16 112 0 0 0.003163 0 0 TRIM8 81603 broad.mit.edu 37 10 104404673 104404673 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:104404673C>T uc001kvz.2 + 1 422 c.299C>T c.(298-300)CCG>CTG p.P100L NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 100 B box-type 1. cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGCGGCCCCCCGCTGCCCGCG 0.701 NA 4 5 0 0 0.009096 0 0 TDRD1 56165 broad.mit.edu 37 10 115971637 115971637 + Nonsense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:115971637G>A uc001lbg.1 + 14 1826 c.1673G>A c.(1672-1674)TGG>TAG p.W558* TDRD1_uc001lbf.2_Intron|TDRD1_uc001lbh.1_Nonsense_Mutation_p.W549*|TDRD1_uc001lbi.1_Nonsense_Mutation_p.W549*|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Nonsense_Mutation_p.W267* NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 558 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GATGATCAGTGGTACCGTGCC 0.378 NA 16 114 0 0 0.010504 0 0 FAM160B1 57700 broad.mit.edu 37 10 116608455 116608455 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:116608455G>T uc001lcb.2 + 13 2097 c.1762G>T c.(1762-1764)GGC>TGC p.G588C FAM160B1_uc001lcc.2_Missense_Mutation_p.G588C NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 588 lung(1) 1 CCATGTTGAGGGCACAGGATA 0.428 NA 4 26 0.00024832 0.000285217 0.009096 1 0 MKI67 4288 broad.mit.edu 37 10 129906387 129906387 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr10:129906387T>C uc001lke.2 - 13 3912 c.3717A>G c.(3715-3717)GAA>GAG p.E1239E MKI67_uc001lkf.2_Silent_p.E879E|MKI67_uc009yav.1_Silent_p.E814E|MKI67_uc009yaw.1_Silent_p.E389E NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1239 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAGCCACTAATTCCTCGGTGT 0.512 NA 19 53 0 0 0.008871 0 0 NLRP6 171389 broad.mit.edu 37 11 284494 284494 + Nonsense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:284494C>T uc010qvs.1 + 7 2392 c.2392C>T c.(2392-2394)CAG>TAG p.Q798* NLRP6_uc010qvt.1_Nonsense_Mutation_p.Q797* NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 798 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCCTGACCCCCAGCGAGGGCT 0.697 NA 12 14 0 0 0.013537 0 0 OR56A1 120796 broad.mit.edu 37 11 6048493 6048493 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:6048493C>T uc010qzw.1 - 1 442 c.442G>A c.(442-444)GTG>ATG p.V148M NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTTTGGCCACAAATTGATTA 0.507 NA 6 42 0 0 0.001984 0 0 FAM160A2 84067 broad.mit.edu 37 11 6236055 6236055 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:6236055C>A uc001mcl.3 - 10 2661 c.2302G>T c.(2302-2304)GCC>TCC p.A768S FAM160A2_uc001mck.3_Missense_Mutation_p.A782S NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 768 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GCCAGCTGGGCCACCAGCCCC 0.612 NA 5 18 3.59834e-05 4.39195e-05 0.001168 1 0 NELL1 4745 broad.mit.edu 37 11 21555957 21555957 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:21555957C>G uc001mqe.2 + 16 1836 c.1683C>G c.(1681-1683)CAC>CAG p.H561Q NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Missense_Mutation_p.H589Q|NELL1_uc010rdo.1_Missense_Mutation_p.H504Q|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Missense_Mutation_p.T171R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 561 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 TTGAGTGCCACAACCATTCCC 0.483 NA 25 43 0 0 0.005443 0 0 API5 8539 broad.mit.edu 37 11 43364037 43364037 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:43364037C>T uc010rfh.1 + 14 1725 c.1552C>T c.(1552-1554)CGT>TGT p.R518C API5_uc010rfg.1_Missense_Mutation_p.R507C|API5_uc001mxf.2_3'UTR|API5_uc010rfi.1_3'UTR NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a Error:Variant_position_missing_in_Q9BZZ5_after_alignment anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ACGAGGAAATCGTAGTCGGGG 0.463 Pancreas(1;98 122 5625 20895 49453) NA 7 38 0 0 0.00308 0 0 AGBL2 79841 broad.mit.edu 37 11 47726214 47726214 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:47726214A>T uc001ngg.2 - 6 567 c.467T>A c.(466-468)GTA>GAA p.V156E AGBL2_uc010rhq.1_Missense_Mutation_p.V118E|AGBL2_uc001ngh.1_Missense_Mutation_p.V100E NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 156 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 ACGTGGGTTTACTTCATCCAA 0.448 NA 17 78 0 0 0.006122 0 0 OR4A47 403253 broad.mit.edu 37 11 48511031 48511031 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:48511031A>T uc010rhx.1 + 1 687 c.687A>T c.(685-687)AAA>AAT p.K229N NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTAGTCAGAAAGGGAGGCAAA 0.443 NA 43 94 0 0 0.007835 0 0 OR8J1 219477 broad.mit.edu 37 11 56128008 56128008 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:56128008G>T uc010rjh.1 + 1 286 c.286G>T c.(286-288)GAA>TAA p.E96* NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E96A(1) ovary(2) 2 Esophageal squamous(21;0.00448) CTCATTCTATGAATGTGCCAC 0.418 NA 13 115 0.00244969 0.00272375 0.00245 1 0 OR9I1 219954 broad.mit.edu 37 11 57886684 57886684 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:57886684G>T uc001nml.1 - 1 233 c.233C>A c.(232-234)ACC>AAC p.T78N OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 78 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GATCTGAGGGGTGATGACTGA 0.498 NA 23 17 6.44725e-10 9.42886e-10 0.014323 1 0 MS4A14 84689 broad.mit.edu 37 11 60184263 60184263 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:60184263G>C uc001npj.2 + 5 2387 c.1822G>C c.(1822-1824)GAC>CAC p.D608H MS4A14_uc001npi.2_Missense_Mutation_p.D496H|MS4A14_uc001npn.2_Missense_Mutation_p.D346H|MS4A14_uc001npk.2_Missense_Mutation_p.D591H|MS4A14_uc001npl.2_Missense_Mutation_p.D346H|MS4A14_uc001npm.2_Missense_Mutation_p.D346H NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 608 Gln-rich. integral to membrane receptor activity breast(1) 1 GCAAACTGAAGACCAGCCGGC 0.453 NA 4 20 0 0 0.009096 0 0 MOGAT2 80168 broad.mit.edu 37 11 75438534 75438535 + Missense_Mutation DNP CC CC AA TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:75438534_75438535CC>AA uc010rru.1 + 3 325_326 c.325_326CC>AA c.(325-327)CCC>AAC p.P109N MOGAT2_uc001oww.1_Missense_Mutation_p.P109N|MOGAT2_uc010rrv.1_Missense_Mutation_p.P27N NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 109 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GGGCTTCCACCCCCATGGAGTC 0.53 NA 41 21 0 0 0.004672 0 0 FAT3 120114 broad.mit.edu 37 11 92495099 92495099 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:92495099C>A uc001pdj.3 + 4 3764 c.3747C>A c.(3745-3747)GAC>GAA p.D1249E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1249 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGAAAATGACAACAAGCCCC 0.463 NA TCGA Ovarian(4;0.039) 15 186 6.31663e-08 8.66534e-08 0.003163 1 0 HEPHL1 341208 broad.mit.edu 37 11 93837765 93837765 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:93837765A>G uc001pep.2 + 16 2911 c.2754A>G c.(2752-2754)AGA>AGG p.R918R uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 918 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGGGAAGAAGAAGTGACGTTG 0.348 NA 10 86 0 0 0.006214 0 0 HEPHL1 341208 broad.mit.edu 37 11 93839281 93839281 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:93839281G>T uc001pep.2 + 17 3187 c.3030G>T c.(3028-3030)GAG>GAT p.E1010D uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1010 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATCATGCTGAGAGCTTTCTTT 0.358 NA 50 47 2.23044e-30 4.21017e-30 0.01441 1 0 APOA4 337 broad.mit.edu 37 11 116692349 116692349 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:116692349A>T uc001pps.1 - 3 529 c.425T>A c.(424-426)CTG>CAG p.L142Q NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CTGGGTGCGCAGCTGGTCCGC 0.398 NA 15 6 0 0 0.003163 0 0 IFT46 56912 broad.mit.edu 37 11 118425705 118425705 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:118425705C>G uc001ptp.1 - 6 732 c.354G>C c.(352-354)AAG>AAC p.K118N IFT46_uc001pto.1_Missense_Mutation_p.K169N|IFT46_uc009zaf.1_Missense_Mutation_p.K169N NM_020153 NP_064538 Q9NQC8 IFT46_HUMAN IFT46 118 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding 0 CTGACTATACCTTTAAGAATG 0.418 NA 25 74 0 0 0.00333 0 0 PVRL1 5818 broad.mit.edu 37 11 119508809 119508809 + Nonstop_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:119508809T>C uc001pwu.1 - 8 1548 c.1376A>G c.(1375-1377)TAG>TGG p.*459W NM_203285 NP_976030 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 2 459 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GGTCCTGGGCTAGGGGCACTC 0.642 NA 7 14 0 0 0.001984 0 0 OR10S1 219873 broad.mit.edu 37 11 123847594 123847594 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:123847594G>A uc001pzm.1 - 1 805 c.805C>T c.(805-807)CCT>TCT p.P269S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ATACAGACAGGTGGCACGTAG 0.612 NA 9 75 0 0 0.004482 0 0 ROBO4 54538 broad.mit.edu 37 11 124756396 124756396 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:124756396C>T uc001qbg.2 - 16 2898 c.2758G>A c.(2758-2760)GGT>AGT p.G920S ROBO4_uc010sas.1_Missense_Mutation_p.G775S|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.G478S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 920 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGCTCTAGACCGAAACCAAAG 0.567 NA 31 18 0 0 0.008361 0 0 OPCML 4978 broad.mit.edu 37 11 132290114 132290114 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:132290114G>T uc001qgs.2 - 7 1061 c.1011C>A c.(1009-1011)CTC>CTA p.L337L OPCML_uc001qgu.2_Silent_p.L330L|OPCML_uc010sck.1_Silent_p.L346L|OPCML_uc001qgt.2_Silent_p.L336L|OPCML_uc010scl.1_Silent_p.L296L NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 337 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) AGTGGGCTAAGAGGGTCCCTG 0.512 NA 28 24 6.00712e-18 1.03373e-17 0.012213 1 0 TULP3 7289 broad.mit.edu 37 12 3040343 3040343 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:3040343G>T uc010seh.1 + 6 714 c.633G>T c.(631-633)AGG>AGT p.R211S TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R211S|TULP3_uc010sei.1_Missense_Mutation_p.R68S NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 211 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) GGGATAAAAGGGGAATGGATC 0.443 NA 17 79 1.33834e-09 1.92263e-09 0.007413 1 0 ANO2 57101 broad.mit.edu 37 12 5672645 5672645 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:5672645G>T uc001qnm.2 - 26 2889 c.2817C>A c.(2815-2817)AGC>AGA p.S939R NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 944 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CCACTAATAAGCTCTTCTCTT 0.532 NA 11 32 6.40141e-05 7.65967e-05 0.010729 1 0 VWF 7450 broad.mit.edu 37 12 6182795 6182795 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:6182795G>T uc001qnn.1 - 8 1237 c.987C>A c.(985-987)TGC>TGA p.C329* VWF_uc010set.1_Nonsense_Mutation_p.C329* NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 329 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAGGGCAGCTGCAGCCATCCA 0.532 NA 9 53 1.12685e-05 1.39994e-05 0.004482 1 0 A2M 2 broad.mit.edu 37 12 9243991 9243991 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:9243991G>T uc001qvk.1 - 19 2388 c.2275C>A c.(2275-2277)CCT>ACT p.P759T A2M_uc009zgk.1_Missense_Mutation_p.P609T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 759 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) ATGGTGTCAGGGACTGTTACT 0.517 NA 4 76 1.23904e-05 1.5354e-05 0.000602 1 0 PZP 5858 broad.mit.edu 37 12 9317929 9317929 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:9317929G>T uc001qvl.2 - 19 2322 c.2293C>A c.(2293-2295)CCT>ACT p.P765T PZP_uc009zgl.2_Missense_Mutation_p.P634T|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.P97T NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ATGGTGTCAGGGACTGTTACT 0.527 Melanoma(125;1402 1695 4685 34487 38571) NA 12 42 9.31168e-06 1.16277e-05 0.001855 1 0 CLEC1B 51266 broad.mit.edu 37 12 10150960 10150960 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:10150960G>A uc001qwu.2 - 2 284 c.84C>T c.(82-84)TCC>TCT p.S28S CLEC1B_uc009zhd.2_Intron NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 28 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CACGCCACCAGGAGGAGGATG 0.557 NA 22 36 0 0 0.012319 0 0 KIAA1467 57613 broad.mit.edu 37 12 13215867 13215867 + Silent SNP C C T rs146598933 byFrequency TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:13215867C>T uc001rbi.2 + 5 833 c.810C>T c.(808-810)GAC>GAT p.D270D KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 270 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGGATGAAGACGGTGTTCGAG 0.448 NA 42 242 0 0 0.01441 0 0 RERGL 79785 broad.mit.edu 37 12 18234173 18234173 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:18234173C>A uc001rdq.2 - 6 764 c.570G>T c.(568-570)ATG>ATT p.M190I RERGL_uc001rdr.2_Missense_Mutation_p.M189I NM_024730 NP_079006 Q9H628 RERGL_HUMAN RERG/RAS-like 190 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity 0 TCAATTTGGCCATTGATTTAG 0.363 NA 10 43 0.00621372 0.00669487 0.006214 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21011412 21011412 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:21011412C>G uc001rek.2 + 4 392 c.266C>G c.(265-267)TCT>TGT p.S89C SLCO1B3_uc001rel.2_Missense_Mutation_p.S89C|SLCO1B3_uc010sil.1_Missense_Mutation_p.S89C|LST-3TM12_uc010sim.1_Missense_Mutation_p.S89C NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 89 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TACTTTGGATCTAAACTACAC 0.318 NA 4 44 0 0 0.000602 0 0 KIF21A 55605 broad.mit.edu 37 12 39751210 39751210 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:39751210C>T uc001rly.2 - 9 1391 c.1245G>A c.(1243-1245)GTG>GTA p.V415V KIF21A_uc001rlx.2_Silent_p.V415V|KIF21A_uc001rlz.2_Silent_p.V415V|KIF21A_uc010skl.1_Silent_p.V415V|KIF21A_uc001rma.1_Silent_p.V423V NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 415 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TGATGCTTTCCACACCCTCTT 0.368 NA 30 55 0 0 0.004878 0 0 PLEKHA9 51054 broad.mit.edu 37 12 45567458 45567458 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:45567458C>A uc001rom.1 - 3 1228 c.691G>T c.(691-693)GAC>TAC p.D231Y PLEKHA9_uc009zke.2_Missense_Mutation_p.D231Y 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) CCAAGTTTGTCTAATACTGGA 0.383 NA 54 90 1.83081e-24 3.40307e-24 0.01441 1 0 ADCY6 112 broad.mit.edu 37 12 49170959 49170960 + Missense_Mutation DNP CC CC AA TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:49170959_49170960CC>AA uc001rsh.3 - 5 1963_1964 c.1303_1304GG>TT c.(1303-1305)GGG>TTG p.G435L ADCY6_uc001rsj.3_Missense_Mutation_p.G435L|ADCY6_uc001rsi.3_Missense_Mutation_p.G435L|ADCY6_uc010slw.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 435 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CTCCGGCAGCCCTGACACACAG 0.559 NA 28 85 0 0 0.004672 0 0 KRT81 3887 broad.mit.edu 37 12 52685241 52685241 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:52685241G>T uc001sab.2 - 1 59 c.9C>A c.(7-9)TGC>TGA p.C3* KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 3 Head. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) ATCCTGATCCGCAGGTCATGA 0.657 NA 5 8 2.0095e-06 2.59582e-06 0.001984 1 0 GLS2 27165 broad.mit.edu 37 12 56865309 56865309 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:56865309C>T uc001slj.2 - 18 2050 c.1771G>A c.(1771-1773)GAG>AAG p.E591K GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.E326K|GLS2_uc009zot.2_Missense_Mutation_p.E252K NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 591 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GACAGGGCCTCAGCTGCTGCC 0.502 NA 14 20 0 0 0.00245 0 0 CAND1 55832 broad.mit.edu 37 12 67691560 67691560 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:67691560G>T uc001stn.2 + 6 1218 c.781G>T c.(781-783)GTA>TTA p.V261L CAND1_uc001sto.2_5'Flank NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 261 HEAT 7. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCCTTTGGTGGTAAAATTTTG 0.264 NA 6 42 5.18039e-06 6.56992e-06 0.00308 1 0 NUP107 57122 broad.mit.edu 37 12 69084442 69084442 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:69084442G>T uc001suf.2 + 4 334 c.219G>T c.(217-219)CAG>CAT p.Q73H NUP107_uc001sug.2_5'UTR|NUP107_uc010stj.1_Missense_Mutation_p.Q44H NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 73 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TACTAAGGCAGCCAGATATTT 0.423 NA 19 48 2.39556e-15 3.94135e-15 0.00278 1 0 OSBPL8 114882 broad.mit.edu 37 12 76788492 76788492 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:76788492C>T uc001sye.1 - 9 1170 c.690G>A c.(688-690)GCG>GCA p.A230A OSBPL8_uc001syf.1_Silent_p.A188A|OSBPL8_uc001syg.1_Silent_p.A188A|OSBPL8_uc001syh.1_Silent_p.A205A NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 230 PH. lipid transport lipid binding ovary(1) 1 TGGATCCAACCGCTTCACCTT 0.333 NA 11 26 0 0 0.008291 0 0 NEDD1 121441 broad.mit.edu 37 12 97328824 97328824 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:97328824T>C uc001teu.3 + 7 899 c.560T>C c.(559-561)GTA>GCA p.V187A NEDD1_uc001tev.3_Missense_Mutation_p.V187A|NEDD1_uc010svc.1_Missense_Mutation_p.V98A|NEDD1_uc001tew.2_Missense_Mutation_p.V194A|NEDD1_uc001tex.2_Missense_Mutation_p.V98A NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 187 WD 5. cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 AATGGAATAGTAACTCTCTGG 0.373 NA 9 139 0 0 0.010729 0 0 SLC17A8 246213 broad.mit.edu 37 12 100796515 100796515 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:100796515A>G uc010svi.1 + 8 1358 c.1045A>G c.(1045-1047)ATA>GTA p.I349V SLC17A8_uc009ztx.2_Intron NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 349 Vesicular (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TGGATTTGCAATAAGTAAGGT 0.323 NA 12 16 0 0 0.001855 0 0 HCFC2 29915 broad.mit.edu 37 12 104492250 104492250 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:104492250A>T uc001tkj.3 + 13 1973 c.1870A>T c.(1870-1872)ATC>TTC p.I624F HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 624 Fibronectin type-III 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GAAGCAAAGCATCTCAAAGGT 0.343 Esophageal Squamous(184;1814 2036 4771 6974 15702) NA 37 67 0 0 0.006999 0 0 CUX2 23316 broad.mit.edu 37 12 111785687 111785687 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:111785687G>T uc001tsa.1 + 22 4172 c.4019G>T c.(4018-4020)GGA>GTA p.G1340V NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1340 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GGTAATGATGGACTCCCAAAA 0.637 NA 28 59 3.86903e-22 7.03066e-22 0.013726 1 0 ACAD10 80724 broad.mit.edu 37 12 112186168 112186168 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:112186168G>T uc001tsq.2 + 17 2733 c.2533G>T c.(2533-2535)GAC>TAC p.D845Y ACAD10_uc001tsp.2_Missense_Mutation_p.D845Y|ACAD10_uc009zvx.2_Missense_Mutation_p.D876Y|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 845 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GGGAAAAACAGACCCACATGC 0.532 NA 11 64 3.86212e-05 4.67874e-05 0.008291 1 0 OAS2 4939 broad.mit.edu 37 12 113416336 113416336 + Translation_Start_Site SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:113416336C>A uc001tuj.2 + 1 63 c.-77C>A c.(-79--75)TCCTG>TCATG OAS2_uc001tuh.2_Translation_Start_Site|OAS2_uc001tui.1_Translation_Start_Site NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 TTTCAGTTTCCTGGCTCTGGG 0.532 Pancreas(199;709 2232 18410 33584 35052) NA 3 8 0.004672 0.00507871 0.004672 1 0 OAS2 4939 broad.mit.edu 37 12 113436106 113436106 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:113436106A>T uc001tuj.2 + 5 1039 c.899A>T c.(898-900)AAT>ATT p.N300I OAS2_uc001tui.1_Missense_Mutation_p.N300I NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 300 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 CCAACCAATAATGTGAGTGGA 0.413 Pancreas(199;709 2232 18410 33584 35052) NA 69 80 0 0 0.01441 0 0 RASAL1 8437 broad.mit.edu 37 12 113552717 113552717 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:113552717G>A uc001tum.1 - 13 1362 c.1069C>T c.(1069-1071)CTC>TTC p.L357F RASAL1_uc010syp.1_Missense_Mutation_p.L357F|RASAL1_uc001tul.2_Missense_Mutation_p.L357F|RASAL1_uc001tun.1_Missense_Mutation_p.L357F|RASAL1_uc010syq.1_Missense_Mutation_p.L357F|RASAL1_uc001tuo.3_Missense_Mutation_p.L357F|RASAL1_uc010syr.1_Missense_Mutation_p.L357F NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 357 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 ATGCCCACGAGCTGGGGGCAG 0.637 NA 10 133 0 0 0.008291 0 0 FBXW8 26259 broad.mit.edu 37 12 117426644 117426644 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:117426644G>T uc001twg.1 + 7 1291 c.1209G>T c.(1207-1209)CAG>CAT p.Q403H FBXW8_uc001twf.1_Missense_Mutation_p.Q337H|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 403 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) TTGGTGTACAGGGTCTGGGAT 0.448 NA 19 92 3.62473e-10 5.36548e-10 0.012319 1 0 BRI3BP 140707 broad.mit.edu 37 12 125509731 125509731 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:125509731G>A uc001uha.1 + 3 654 c.511G>A c.(511-513)GTG>ATG p.V171M NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 171 integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) CATGTCCTGCGTGTACATCCT 0.607 NA 14 76 0 0 0.001855 0 0 CHFR 55743 broad.mit.edu 37 12 133420622 133420622 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr12:133420622C>G uc001ulf.2 - 16 1954 c.1870G>C c.(1870-1872)GAG>CAG p.E624Q CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.E612Q|CHFR_uc010tbs.1_Missense_Mutation_p.E623Q|CHFR_uc001uld.2_Missense_Mutation_p.E583Q|CHFR_uc010tbt.1_Missense_Mutation_p.E532Q NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 624 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCTGGCAACTCGGAAGCAGGA 0.478 NA 6 18 0 0 0.001984 0 0 BRCA2 675 broad.mit.edu 37 13 32937423 32937423 + Nonsense_Mutation SNP C C A rs80359048 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:32937423C>A uc001uub.1 + 18 8311 c.8084C>A c.(8083-8085)TCA>TAA p.S2695* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2695 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GACATAATTTCATTGAGCGCA 0.368 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 15 87 1.02788e-11 1.57911e-11 0.00499 1 0 TRPC4 7223 broad.mit.edu 37 13 38320279 38320279 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:38320279C>A uc001uws.2 - 3 927 c.692G>T c.(691-693)AGC>ATC p.S231I TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.S231I|TRPC4_uc010tey.1_Missense_Mutation_p.S231I|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.S231I|TRPC4_uc010aby.2_Missense_Mutation_p.S231I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 231 Potential.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCCACCTTGCTCAGTTCCTG 0.463 NA 11 49 3.86212e-05 4.67874e-05 0.008291 1 0 CKAP2 26586 broad.mit.edu 37 13 53036058 53036058 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:53036058G>C uc001vgv.2 + 4 1297 c.1100G>C c.(1099-1101)AGA>ACA p.R367T CKAP2_uc001vgt.2_Missense_Mutation_p.R366T|CKAP2_uc001vgu.2_Missense_Mutation_p.R366T|CKAP2_uc010tha.1_Missense_Mutation_p.R318T NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 367 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) TCGGAAGAGAGAAAGTAAGTA 0.348 NA 9 31 0 0 0.004482 0 0 PCDH8 5100 broad.mit.edu 37 13 53418802 53418802 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:53418802G>T uc001vhi.2 - 3 3309 c.3106C>A c.(3106-3108)CCC>ACC p.P1036T PCDH8_uc001vhj.2_Missense_Mutation_p.P939T NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 1036 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCTGGACGGGGAGGGGAGAGC 0.582 GBM(36;25 841 9273 49207) NA 11 77 3.86212e-05 4.67874e-05 0.008291 1 0 TMTC4 84899 broad.mit.edu 37 13 101320951 101320951 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:101320951G>C uc001vou.2 - 2 204 c.44C>G c.(43-45)TCT>TGT p.S15C TMTC4_uc001vot.2_Missense_Mutation_p.S34C|TMTC4_uc010tja.1_Missense_Mutation_p.S15C NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 15 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGAAGAACAGAAGATGGAAG 0.473 NA 11 43 0 0 0.008291 0 0 OR4N2 390429 broad.mit.edu 37 14 20296384 20296384 + Silent SNP G G A rs149732016 byFrequency TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:20296384G>A uc010tkv.1 + 1 777 c.777G>A c.(775-777)ACG>ACA p.T259T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 259 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) TCATCTACACGCGCCCCTTCA 0.468 NA 15 83 0 0 0.00245 0 0 CTSG 1511 broad.mit.edu 37 14 25044512 25044512 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:25044512C>A uc001wpq.2 - 2 199 c.162G>T c.(160-162)GTG>GTT p.V54V NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 54 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) AGTCTTCTCGCACCAGGAACC 0.602 NA 7 56 8.12818e-05 9.60783e-05 0.001984 1 0 EGLN3 112399 broad.mit.edu 37 14 34396240 34396240 + Splice_Site SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:34396240C>A uc001wsa.3 - 4 941 c.615_splice c.e4-1 p.R205_splice EGLN3_uc001wry.2_Splice_Site_p.R111_splice|EGLN3_uc001wrz.2_Splice_Site_p.R205_splice NM_022073 NP_071356 Q9H6Z9 EGLN3_HUMAN egl nine homolog 3 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding 0 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) CATAGCATATCTGTGAAAGAT 0.313 Esophageal Squamous(161;245 1904 13895 22565 30076) NA 6 49 0.00307968 0.00339322 0.00308 1 0 MDGA2 161357 broad.mit.edu 37 14 47346708 47346708 + Silent SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:47346708A>C uc001wwj.3 - 12 2410 c.2214T>G c.(2212-2214)CCT>CCG p.P738P MDGA2_uc001wwh.3_Intron|MDGA2_uc001wwi.3_Silent_p.P509P|MDGA2_uc010ani.2_Silent_p.P298P NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 738 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GAGGATTTACAGGAGCTACAA 0.224 NA 3 3 0 0 0.004672 0 0 SPTB 6710 broad.mit.edu 37 14 65271709 65271709 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:65271709C>A uc001xht.2 - 2 302 c.248G>T c.(247-249)CGG>CTG p.R83L SPTB_uc001xhr.2_Missense_Mutation_p.R83L|SPTB_uc001xhs.2_Missense_Mutation_p.R83L|SPTB_uc001xhu.2_Missense_Mutation_p.R83L NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 83 CH 1.|Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCGCCCATCCCGCAGGTCCTT 0.587 NA 17 53 0.000422831 0.000482246 0.004007 1 0 ISM2 145501 broad.mit.edu 37 14 77942014 77942014 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:77942014T>A uc001xtz.2 - 7 1714 c.1640A>T c.(1639-1641)AAC>ATC p.N547I ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.N459I|ISM2_uc010tvl.1_Missense_Mutation_p.N466I NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 547 AMOP. extracellular region skin(1) 1 TCGGCCGTTGTTGGGAGGGAG 0.607 NA 11 24 0 0 0.008291 0 0 ITPK1 3705 broad.mit.edu 37 14 93408241 93408241 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:93408241C>A uc001ybg.2 - 11 1199 c.910G>T c.(910-912)GGC>TGC p.G304C ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.2_Missense_Mutation_p.G185C|ITPK1_uc001ybh.2_Missense_Mutation_p.G304C NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 304 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TCGCTCACGCCCTCGTAGCCT 0.652 NA 8 8 0.00621372 0.00669487 0.006214 1 0 WARS 7453 broad.mit.edu 37 14 100803403 100803403 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:100803403C>A uc001yhf.1 - 9 1334 c.1250G>T c.(1249-1251)AGG>ATG p.R417M WARS_uc001yhe.1_Missense_Mutation_p.R223M|WARS_uc001yhg.1_Missense_Mutation_p.R417M|WARS_uc001yhh.1_Missense_Mutation_p.R417M|WARS_uc001yhi.1_Missense_Mutation_p.R376M|WARS_uc001yhj.1_Missense_Mutation_p.R376M|WARS_uc001yhk.1_Missense_Mutation_p.R376M|WARS_uc001yhl.1_Missense_Mutation_p.R417M NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 417 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) GCTCACCTTCCTGATCTGCTC 0.602 NA 13 96 3.41278e-10 5.06715e-10 0.00499 1 0 AHNAK2 113146 broad.mit.edu 37 14 105410286 105410286 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr14:105410286C>A uc010axc.1 - 7 11622 c.11502G>T c.(11500-11502)GAG>GAT p.E3834D AHNAK2_uc001ypx.2_Missense_Mutation_p.E3734D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3834 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCACATCGGCCTCCACCTTGG 0.592 NA 42 127 3.61848e-18 6.29357e-18 0.007835 1 0 NIPA1 123606 broad.mit.edu 37 15 23048984 23048984 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:23048984G>C uc001yvc.2 - 5 860 c.835C>G c.(835-837)CTC>GTC p.L279V NIPA1_uc001yvd.2_Missense_Mutation_p.L109V|NIPA1_uc001yve.2_Missense_Mutation_p.L204V NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 279 Helical; (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) TCCCGGAAGAGGATGGCTGAG 0.582 NA 4 19 0 0 0.009096 0 0 GABRB3 2562 broad.mit.edu 37 15 26812850 26812850 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:26812850C>A uc001zaz.2 - 7 855 c.713G>T c.(712-714)CGG>CTG p.R238L GABRB3_uc010uae.1_Missense_Mutation_p.R153L|GABRB3_uc001zba.2_Missense_Mutation_p.R238L|GABRB3_uc001zbb.2_Missense_Mutation_p.R294L NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 238 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTCTTCAACCGAAAGCTCAG 0.423 NA 6 48 2.0095e-06 2.59582e-06 0.001984 1 0 OCA2 4948 broad.mit.edu 37 15 28196981 28196981 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:28196981T>A uc001zbh.3 - 18 2010 c.1900A>T c.(1900-1902)ATC>TTC p.I634F OCA2_uc010ayv.2_Missense_Mutation_p.I610F NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 634 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AACATGAAGATAACAAATCCC 0.428 NA Oculocutaneous_Albinism 8 30 0 0 0.006214 0 0 HERC2 8924 broad.mit.edu 37 15 28422209 28422209 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:28422209C>A uc001zbj.2 - 61 9425 c.9319G>T c.(9319-9321)GGG>TGG p.G3107W NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3107 RCC1 8. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGCGAGCTCCCACAGGCGATA 0.562 NA 7 36 8.12818e-05 9.60783e-05 0.001984 1 0 RYR3 6263 broad.mit.edu 37 15 33603291 33603291 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:33603291G>T uc001zhi.2 + 1 115 c.45G>T c.(43-45)CTG>CTT p.L15L RYR3_uc010bar.2_Silent_p.L15L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 15 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGTTTCTGAGGACTGTGA 0.756 NA 8 13 0.00448238 0.00491649 0.004482 1 0 COPS2 9318 broad.mit.edu 37 15 49426281 49426281 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:49426281C>G uc001zxf.2 - 8 819 c.740G>C c.(739-741)AGG>ACG p.R247T COPS2_uc001zxh.2_Missense_Mutation_p.R254T|COPS2_uc010ufa.1_Missense_Mutation_p.R183T NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 247 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TTCACCTTCCCTCAAGTGCAT 0.358 NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803) NA 12 47 0 0 0.001855 0 0 CYP19A1 1588 broad.mit.edu 37 15 51507397 51507397 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:51507397G>T uc001zyz.3 - 9 1142 c.891C>A c.(889-891)AAC>AAA p.N297K CYP19A1_uc001zza.3_Missense_Mutation_p.N297K|CYP19A1_uc001zzb.2_Missense_Mutation_p.N297K NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 297 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ATATGCACTGGTTCACATTCT 0.413 Melanoma(142;1016 1807 39614 48966 51721) NA 10 78 1.33987e-11 2.04551e-11 0.008291 1 0 DMXL2 23312 broad.mit.edu 37 15 51755682 51755682 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:51755682G>A uc002abf.2 - 33 8042 c.7817C>T c.(7816-7818)TCT>TTT p.S2606F DMXL2_uc002abd.2_Missense_Mutation_p.S677F|DMXL2_uc010ufy.1_Missense_Mutation_p.S2607F|DMXL2_uc010bfa.2_Missense_Mutation_p.S1970F NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2606 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AAATGCAGAAGAATCCCGGGA 0.294 NA 16 97 0 0 0.007413 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727441 66727441 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:66727441T>C uc010bhq.2 + 2 632 c.157T>C c.(157-159)TTT>CTT p.F53L MAP2K1_uc010ujp.1_Missense_Mutation_p.F31L NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53 F -> S (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CCTTGAGGCCTTTCTTACCCA 0.547 NA Cardiofaciocutaneous_syndrome 46 104 0 0 0.01441 0 0 LCTL 197021 broad.mit.edu 37 15 66850109 66850109 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:66850109G>T uc002aqc.2 - 8 1005 c.873C>A c.(871-873)GCC>GCA p.A291A LCTL_uc002aqd.3_Silent_p.A118A|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 291 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 AAATGGGGTTGGCAAACCAGC 0.498 NA 34 70 1.60099e-16 2.67014e-16 0.004878 1 0 PTPN9 5780 broad.mit.edu 37 15 75815560 75815560 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:75815560G>A uc002bal.2 - 4 832 c.324C>T c.(322-324)TCC>TCT p.S108S NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 108 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 AGAGGGCAATGGAGGCTCCTG 0.403 NA 10 30 0 0 0.008291 0 0 CSPG4 1464 broad.mit.edu 37 15 75981627 75981627 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:75981627C>G uc002baw.2 - 3 1872 c.1779G>C c.(1777-1779)CAG>CAC p.Q593H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 593 Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGCCAAGGACCTGGAAGGTGA 0.672 NA 6 20 0 0 0.001984 0 0 SCAPER 49855 broad.mit.edu 37 15 77087629 77087629 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:77087629C>T uc002bby.2 - 7 823 c.764G>A c.(763-765)CGC>CAC p.R255H SCAPER_uc002bbx.2_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.R120H|SCAPER_uc002bca.1_Missense_Mutation_p.R120H|SCAPER_uc002bcb.1_Missense_Mutation_p.R255H|SCAPER_uc002bcc.1_Missense_Mutation_p.R255H NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 254 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 GCCATTTTTGCGTGAGGCCTT 0.408 NA 15 97 0 0 0.006122 0 0 NTRK3 4916 broad.mit.edu 37 15 88483959 88483959 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:88483959G>A uc002bme.1 - 14 1773 c.1611C>T c.(1609-1611)GAC>GAT p.D537D NTRK3_uc002bmh.2_Silent_p.D529D|NTRK3_uc002bmf.1_Silent_p.D537D|NTRK3_uc010upl.1_Silent_p.D439D|NTRK3_uc010bnh.1_Silent_p.D529D NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 537 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TCAGCACGATGTCTCTCCTCT 0.537 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 13 102 0 0 0.00245 0 0 ACAN 176 broad.mit.edu 37 15 89392759 89392759 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr15:89392759C>A uc010upo.1 + 10 2197 c.1823C>A c.(1822-1824)ACG>AAG p.T608K ACAN_uc002bmx.2_Missense_Mutation_p.T608K|ACAN_uc010upp.1_Missense_Mutation_p.T608K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 608 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGGCCACCACGGGCCAGCTC 0.652 NA 4 10 0.00024832 0.000285217 0.009096 1 0 MSLN 10232 broad.mit.edu 37 16 816697 816697 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:816697G>T uc002cjw.1 + 13 1335 c.1284G>T c.(1282-1284)AAG>AAT p.K428N MSLN_uc002cjt.1_Missense_Mutation_p.K420N|MSLN_uc002cju.1_Missense_Mutation_p.K420N|MSLN_uc010brd.1_Missense_Mutation_p.K419N|MSLN_uc002cjv.1_Missense_Mutation_p.K420N|MSLN_uc002cjx.1_Missense_Mutation_p.K420N|MSLN_uc002cjy.1_Missense_Mutation_p.K85N NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 428 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) GCTTTGTGAAGGGAAGGGGCC 0.632 NA 20 43 4.35082e-09 6.12384e-09 0.010504 1 0 NLRC3 197358 broad.mit.edu 37 16 3614682 3614682 + Silent SNP T T G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:3614682T>G uc010btn.2 - 5 667 c.256A>C c.(256-258)AGG>CGG p.R86R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 86 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GAGGCCAGCCTGTGCCAGGGT 0.706 NA 5 8 0 0 0.000602 0 0 ITGAL 3683 broad.mit.edu 37 16 30510692 30510692 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:30510692A>T uc002dyi.3 + 17 2203 c.2027A>T c.(2026-2028)CAG>CTG p.Q676L ITGAL_uc002dyj.3_Missense_Mutation_p.Q593L|ITGAL_uc010vev.1_Missense_Mutation_p.Q72L NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 676 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) TACACTCTGCAGCTGGATGGC 0.567 NSCLC(110;1462 1641 3311 33990 49495) NA 22 75 0 0 0.00333 0 0 ZNF688 146542 broad.mit.edu 37 16 30581633 30581633 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:30581633G>A uc002dyt.2 - 3 1213 c.435C>T c.(433-435)AGC>AGT p.S145S ZNF688_uc002dys.2_Silent_p.S131S|uc002dyu.2_5'Flank NM_145271 NP_660314 P0C7X2 ZN688_HUMAN zinc finger protein 688 isoform a 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGGGCCACGCTAATAGCTG 0.627 NA 6 35 0 0 0.001168 0 0 ZNF423 23090 broad.mit.edu 37 16 49660112 49660112 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:49660112C>G uc002efs.2 - 6 3844 c.3546G>C c.(3544-3546)GAG>GAC p.E1182D ZNF423_uc010vgn.1_Missense_Mutation_p.E1065D NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1182 C2H2-type 27. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGATTTGGATCTCTCTCTCGT 0.443 NA 38 149 0 0 0.010771 0 0 ZNF423 23090 broad.mit.edu 37 16 49670744 49670744 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:49670744G>T uc002efs.2 - 5 2617 c.2319C>A c.(2317-2319)CAC>CAA p.H773Q ZNF423_uc010vgn.1_Missense_Mutation_p.H656Q NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 773 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGTTGCCCAGGTGGCTGTGTT 0.587 NA 8 30 0.00307968 0.00339322 0.00308 1 0 NKD1 85407 broad.mit.edu 37 16 50642220 50642220 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:50642220G>T uc002egg.1 + 4 432 c.208G>T c.(208-210)GTG>TTG p.V70L NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 70 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CGTGGGCGACGTGTTGAGAGA 0.592 NA 21 89 1.90627e-21 3.43834e-21 0.012319 1 0 CHD9 80205 broad.mit.edu 37 16 53341597 53341597 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:53341597G>T uc002ehb.2 + 32 6949 c.6785G>T c.(6784-6786)CGT>CTT p.R2262L CHD9_uc002egy.2_Missense_Mutation_p.R2262L|CHD9_uc002ehc.2_Missense_Mutation_p.R2263L|CHD9_uc002ehf.2_Missense_Mutation_p.R1376L|CHD9_uc010cbw.2_Missense_Mutation_p.R328L|CHD9_uc002ehg.1_Missense_Mutation_p.R269L NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2262 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTCTAGGATCGTGTGATGATC 0.378 NA 4 9 0.00024832 0.000285217 0.009096 1 0 NFATC3 4775 broad.mit.edu 37 16 68224795 68224795 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:68224795G>T uc002evo.1 + 9 2433 c.2223G>T c.(2221-2223)CTG>CTT p.L741L NFATC3_uc010vkl.1_Silent_p.L262L|NFATC3_uc010vkm.1_Silent_p.L262L|NFATC3_uc010vkn.1_Silent_p.L262L|NFATC3_uc010vko.1_Silent_p.L262L|NFATC3_uc010vkp.1_Silent_p.L262L|NFATC3_uc010vkq.1_Silent_p.L262L|NFATC3_uc002evl.2_Silent_p.L262L|NFATC3_uc002evk.2_Silent_p.L741L|NFATC3_uc002evm.1_Silent_p.L741L|NFATC3_uc002evn.1_Silent_p.L741L|NFATC3_uc010vkr.1_Silent_p.L262L|NFATC3_uc010vks.1_Silent_p.L262L|NFATC3_uc010vkt.1_Silent_p.L262L|NFATC3_uc010vku.1_Silent_p.L262L|NFATC3_uc010vkv.1_Silent_p.L262L|NFATC3_uc010vkw.1_Silent_p.L262L|NFATC3_uc010vkx.1_Silent_p.L262L|NFATC3_uc010vky.1_Silent_p.L262L|NFATC3_uc010vkz.1_Silent_p.L262L|NFATC3_uc010vla.1_Silent_p.L262L|NFATC3_uc010vlb.1_Silent_p.L262L|NFATC3_uc010vlc.1_Silent_p.L262L NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 741 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) ACAGTGTACTGTCAGGACAGA 0.473 NA 21 71 0.000175454 0.000203929 0.010504 1 0 SF3B3 23450 broad.mit.edu 37 16 70605714 70605715 + Nonstop_Mutation DNP TG TG CT TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:70605714_70605715TG>CT uc002ezf.2 + 26 3863_3864 c.3652_3653TG>CT c.(3652-3654)TGA>CTA p.*1218L NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1218 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CTACGCCTTCTGAGCCCTCCTT 0.564 NA 9 36 0 0 0.004672 0 0 ZNF19 7567 broad.mit.edu 37 16 71509360 71509360 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:71509360T>C uc010cgc.1 - 6 1596 c.1090A>G c.(1090-1092)AAA>GAA p.K364E ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.K352E|ZNF19_uc002fal.1_Missense_Mutation_p.K352E|ZNF19_uc002fam.1_Missense_Mutation_p.K364E NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 364 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) CTGAAGGCTTTTCCACAATCT 0.403 NA 11 64 0 0 0.008291 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77356285 77356285 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:77356285C>A uc002ffc.3 - 14 2530 c.2111G>T c.(2110-2112)GGA>GTA p.G704V ADAMTS18_uc010chc.1_Missense_Mutation_p.G292V|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G400V NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 704 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GCAGGGAGTTCCATCTTTCAC 0.398 NA 14 141 0.000219431 0.000254436 0.00245 1 0 PKD1L2 114780 broad.mit.edu 37 16 81232459 81232459 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:81232459A>T uc002fgh.1 - 7 1351 c.1351T>A c.(1351-1353)TCA>ACA p.S451T PKD1L2_uc002fgj.2_Missense_Mutation_p.S451T NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 451 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGCAGCCCTGACAGCAGCTCC 0.582 NA 40 92 0 0 0.005524 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050277 84050277 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:84050277C>A uc002fhg.1 - 8 1009 c.1009G>T c.(1009-1011)GCC>TCC p.A337S NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 337 amino acid transport|sodium ion transport integral to membrane 0 TCGGCCAGGGCGCTGGGCCCC 0.657 NA 13 40 0.000151284 0.00017668 0.001855 1 0 SLC38A8 146167 broad.mit.edu 37 16 84050766 84050766 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:84050766G>C uc002fhg.1 - 7 932 c.932C>G c.(931-933)CCC>CGC p.P311R NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 311 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 GAGCACGATGGGGTAGACAGT 0.532 NA 4 24 0 0 0.009096 0 0 MTHFSD 64779 broad.mit.edu 37 16 86582141 86582141 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:86582141C>A uc002fjn.2 - 4 331 c.280G>T c.(280-282)GGA>TGA p.G94* MTHFSD_uc010voo.1_Nonsense_Mutation_p.G74*|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Nonsense_Mutation_p.G93*|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Nonsense_Mutation_p.G93*|MTHFSD_uc010vor.1_Nonsense_Mutation_p.G94*|MTHFSD_uc002fjp.2_Nonsense_Mutation_p.G74* NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 94 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 TTAAACAATCCCGTTCTCAGT 0.388 NA 26 92 1.50538e-07 2.04782e-07 0.00632 1 0 CBFA2T3 863 broad.mit.edu 37 16 88951655 88951655 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr16:88951655G>T uc002fmm.1 - 7 1102 c.916C>A c.(916-918)CGC>AGC p.R306S CBFA2T3_uc002fml.1_Missense_Mutation_p.R220S|CBFA2T3_uc010cif.1_Missense_Mutation_p.R245S|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R281S NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 306 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). R -> H (in a colorectal cancer sample; somatic mutation). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R306H(1) large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) AGCGGGTCGCGGTCTGACCCG 0.677 NA T RUNX1 AML 6 11 0.00198382 0.0022108 0.001984 1 0 AIPL1 23746 broad.mit.edu 37 17 6330265 6330265 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:6330265C>A uc002gcp.2 - 4 673 c.578G>T c.(577-579)CGC>CTC p.R193L AIPL1_uc002gcq.2_Missense_Mutation_p.R133L|AIPL1_uc002gcr.2_Missense_Mutation_p.R130L|AIPL1_uc010clk.2_Missense_Mutation_p.R171L|AIPL1_uc010cll.2_Missense_Mutation_p.R193L|AIPL1_uc002gcs.2_Missense_Mutation_p.R193L NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 193 TPR 1. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) CTCCTCGTAGCGGCCCAGCTT 0.597 NA 51 49 9.52127e-25 1.77657e-24 0.01441 1 0 USP43 124739 broad.mit.edu 37 17 9578299 9578299 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:9578299A>T uc010cod.2 + 4 832 c.832A>T c.(832-834)AGG>TGG p.R278W USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Missense_Mutation_p.R278W|USP43_uc010coe.2_Missense_Mutation_p.R75W NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 278 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCGCCAGACGAGGTACGTGAG 0.537 NA 76 93 0 0 0.01441 0 0 MYH4 4622 broad.mit.edu 37 17 10366242 10366242 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:10366242G>T uc002gmn.2 - 11 1059 c.948C>A c.(946-948)GTC>GTA p.V316V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 316 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCCCTTGGCTGACAAATGCGA 0.393 NA 38 37 9.9191e-30 1.8651e-29 0.00874 1 0 MYH1 4619 broad.mit.edu 37 17 10417165 10417165 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:10417165G>T uc002gmo.2 - 8 808 c.714C>A c.(712-714)ACC>ACA p.T238T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 238 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CATTCCTCACGGTCTTGGCGT 0.502 NA 28 23 3.11337e-16 5.17479e-16 0.013726 1 0 MYH2 4620 broad.mit.edu 37 17 10446451 10446451 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:10446451T>A uc010coi.2 - 9 897 c.769A>T c.(769-771)ACT>TCT p.T257S uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T257S|MYH2_uc010coj.2_Missense_Mutation_p.T257S NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 257 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTTCCAGTAGTGCCAAAGTGG 0.279 NA 19 92 0 0 0.014323 0 0 MYH2 4620 broad.mit.edu 37 17 10447283 10447283 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:10447283T>C uc010coi.2 - 7 712 c.584A>G c.(583-585)TAC>TGC p.Y195C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Y195C|MYH2_uc010coj.2_Missense_Mutation_p.Y195C NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 195 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGTTGCAAAGTACTGGATGAC 0.433 NA 13 75 0 0 0.013537 0 0 MYH3 4621 broad.mit.edu 37 17 10535312 10535312 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:10535312C>G uc002gmq.1 - 34 5055 c.4978G>C c.(4978-4980)GAT>CAT p.D1660H NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1660 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CGGAGGGCATCATCCAGGTGG 0.562 NA 21 20 0 0 0.014323 0 0 NF1 4763 broad.mit.edu 37 17 29663445 29663445 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:29663445C>T uc002hgg.2 + 41 6434 c.6101C>T c.(6100-6102)ACT>ATT p.T2034I NF1_uc002hgh.2_Missense_Mutation_p.T2013I|NF1_uc010cso.2_Missense_Mutation_p.T222I|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2034 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGGCAGATACTGCTGTAGCT 0.393 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 62 0 0 0.00499 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150336 39150336 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:39150336G>A uc002hvr.1 - 1 50 c.14C>T c.(13-15)GCC>GTC p.A5V NM_033185 NP_149441 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 5 1.|3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity 0 Breast(137;0.00043) GCCTCGAGAGGCACAGCAATC 0.547 NA 31 84 0 0 0.009535 0 0 OSBPL7 114881 broad.mit.edu 37 17 45886818 45886818 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:45886818T>A uc002ilx.1 - 19 2110 c.1907A>T c.(1906-1908)AAG>ATG p.K636M OSBPL7_uc002ilw.1_Missense_Mutation_p.K198M NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 636 lipid transport lipid binding 0 GGATGTCACCTTGTTCCACTC 0.567 NA 10 27 0 0 0.010729 0 0 BCAS3 54828 broad.mit.edu 37 17 58946045 58946045 + Splice_Site SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:58946045G>T uc002iyv.3 + 8 693 c.584_splice c.e8+1 p.R195_splice BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_p.R195_splice|BCAS3_uc002iyw.3_Splice_Site_p.R191_splice NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GCAATAAACGGTAAGGATTTT 0.373 NA 10 37 2.17888e-05 2.68636e-05 0.006214 1 0 NACA2 342538 broad.mit.edu 37 17 59668525 59668525 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:59668525G>T uc002izj.2 - 1 43 c.17C>A c.(16-18)ACA>AAA p.T6K NM_199290 NP_954984 Q9H009 NACA2_HUMAN nascent-polypeptide-associated complex alpha 6 protein transport cytoplasm|nucleus ovary(1) 1 all_epithelial(1;3.12e-14) GACGGTTTCTGTGGCTTCGCC 0.582 NA 11 26 2.27111e-07 3.0638e-07 0.013537 1 0 KCNJ2 3759 broad.mit.edu 37 17 68172048 68172048 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:68172048G>A uc010dfg.2 + 2 1269 c.868G>A c.(868-870)GCA>ACA p.A290T KCNJ2_uc002jir.2_Missense_Mutation_p.A290T NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 290 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) CATTGACAACGCAGACTTTGA 0.438 NA 7 69 0 0 0.004482 0 0 QRICH2 84074 broad.mit.edu 37 17 74289961 74289961 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:74289961G>A uc002jrd.1 - 4 529 c.349C>T c.(349-351)CGG>TGG p.R117W QRICH2_uc010wsz.1_Missense_Mutation_p.R43W|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 117 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 GATGCAGTCCGATCCGGGCCA 0.557 NA 9 49 0 0 0.004482 0 0 CD7 924 broad.mit.edu 37 17 80274796 80274796 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:80274796G>A uc002kel.1 - 2 253 c.144C>T c.(142-144)TGC>TGT p.C48C CD7_uc010din.2_Silent_p.C48C|CD7_uc002kem.2_Missense_Mutation_p.L30F|CD7_uc010wvk.1_Silent_p.C48C NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 48 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CGCTGGTGGAGCAGGTGATGT 0.642 Pancreas(45;804 1068 19702 28207 28798) NA 7 28 0 0 0.004482 0 0 COLEC12 81035 broad.mit.edu 37 18 348117 348117 + Silent SNP G G C rs143313397 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:348117G>C uc002kkm.2 - 4 443 c.228C>G c.(226-228)CGC>CGG p.R76R NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 76 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CATAGGTTTGGCGAGATGTTT 0.363 NA 23 66 0 0 0.005443 0 0 CEP192 55125 broad.mit.edu 37 18 13049430 13049430 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:13049430G>T uc010xac.1 + 16 2720 c.2640G>T c.(2638-2640)AAG>AAT p.K880N CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.K405N|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.K621N NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 880 ovary(4)|pancreas(1) 5 TTGATGTGAAGACATGTTCCA 0.363 NA 18 79 7.07596e-05 8.44606e-05 0.006122 1 0 ZNF521 25925 broad.mit.edu 37 18 22804890 22804890 + Nonsense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:22804890G>A uc002kvk.2 - 4 3239 c.2992C>T c.(2992-2994)CAG>TAG p.Q998* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Q998*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Q778* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 998 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCTTCACTCTGGAGAGGCATC 0.493 NA T PAX5 ALL 13 39 0 0 0.001855 0 0 ZNF521 25925 broad.mit.edu 37 18 22806795 22806795 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:22806795G>C uc002kvk.2 - 4 1334 c.1087C>G c.(1087-1089)CTC>GTC p.L363V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L363V|ZNF521_uc002kvl.2_Missense_Mutation_p.L143V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 363 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCACTGAGAGGTTGGAATCT 0.582 NA T PAX5 ALL 9 51 0 0 0.004482 0 0 CDH2 1000 broad.mit.edu 37 18 25543368 25543368 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:25543368G>T uc002kwg.2 - 15 2926 c.2467C>A c.(2467-2469)CGA>AGA p.R823R CDH2_uc010xbn.1_Silent_p.R792R NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 823 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GCTGCAGATCGGACCGGATAC 0.522 NA 8 20 2.17888e-05 2.68636e-05 0.006214 1 0 DSG4 147409 broad.mit.edu 37 18 28979267 28979267 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:28979267G>T uc002kwq.2 + 9 1173 c.1038G>T c.(1036-1038)CAG>CAT p.Q346H DSG4_uc002kwr.2_Missense_Mutation_p.Q346H NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 346 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTAACATTCAGCTTAGTATCG 0.373 NA 26 90 3.7963e-18 6.55603e-18 0.00333 1 0 C18orf34 374864 broad.mit.edu 37 18 30803130 30803130 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:30803130T>A uc002kxn.2 - 17 2014 c.1872A>T c.(1870-1872)AAA>AAT p.K624N C18orf34_uc010dme.1_Missense_Mutation_p.K138N|C18orf34_uc010xbr.1_Missense_Mutation_p.K624N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.2_Missense_Mutation_p.K624N NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 624 ovary(1) 1 TTTTCTTTACTTTTCCCACCT 0.299 NA 8 44 0 0 0.008291 0 0 CDH19 28513 broad.mit.edu 37 18 64172379 64172379 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr18:64172379G>A uc002lkc.1 - 12 2127 c.1989C>T c.(1987-1989)ACC>ACT p.T663T CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 663 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CCCGCATTATGGTACTACTCC 0.463 NA 72 180 0 0 0.01441 0 0 MUC16 94025 broad.mit.edu 37 19 9024488 9024488 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:9024488G>T uc002mkp.2 - 17 37249 c.37045C>A c.(37045-37047)CAT>AAT p.H12349N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12351 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGCTCTGATGGGTGAAACCT 0.537 NA 11 17 4.36969e-10 6.4486e-10 0.001855 1 0 MUC16 94025 broad.mit.edu 37 19 9059194 9059194 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:9059194C>A uc002mkp.2 - 3 28456 c.28252G>T c.(28252-28254)GAT>TAT p.D9418Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9420 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATGACACATCCTCAGGACCT 0.512 NA 36 52 1.414e-09 2.02535e-09 0.003755 1 0 KEAP1 9817 broad.mit.edu 37 19 10610099 10610099 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:10610099C>G uc002moq.1 - 2 767 c.611G>C c.(610-612)CGG>CCG p.R204P KEAP1_uc002mor.1_Missense_Mutation_p.R204P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 204 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GATGTACTCCCGGGCACGCTG 0.597 NA 5 3 0 0 0.000602 0 0 ZNF44 51710 broad.mit.edu 37 19 12384274 12384274 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:12384274T>A uc010xmj.1 - 5 1145 c.940A>T c.(940-942)AGT>TGT p.S314C ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S266C NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 314 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AGATATGAACTGTAATCAGGG 0.413 NA 26 54 0 0 0.003954 0 0 OR1I1 126370 broad.mit.edu 37 19 15198003 15198003 + Missense_Mutation SNP G G T rs138224343 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:15198003G>T uc010xoe.1 + 1 127 c.127G>T c.(127-129)GCC>TCC p.A43S NM_001004713 NP_001004713 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 CATTGGAAATGCCCTCATTAT 0.493 NA 3 26 0.004672 0.00507871 0.004672 1 0 SLC5A5 6528 broad.mit.edu 37 19 17988585 17988585 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:17988585G>T uc002nhr.3 + 6 1099 c.752G>T c.(751-753)GGC>GTC p.G251V NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 251 Helical; (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GTGGTGGGTGGCACGTTGGTG 0.592 Melanoma(65;1008 1708 7910 46650) NA 28 47 1.16021e-09 1.67662e-09 0.007291 1 0 ZNF676 163223 broad.mit.edu 37 19 22362965 22362965 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:22362965C>T uc002nqs.1 - 3 1872 c.1554G>A c.(1552-1554)TCG>TCA p.S518S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 518 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CAGTAAGGATCGAGGACCAGC 0.403 NA 17 51 0 0 0.00499 0 0 ZNF91 7644 broad.mit.edu 37 19 23545221 23545221 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:23545221C>G uc002nre.2 - 4 673 c.560G>C c.(559-561)TGT>TCT p.C187S ZNF91_uc010xrj.1_Missense_Mutation_p.C155S NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 187 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGACTTGACACATTTTTTACA 0.289 NA 12 43 0 0 0.013537 0 0 ZNF536 9745 broad.mit.edu 37 19 31040344 31040344 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:31040344C>T uc002nsu.1 + 4 3956 c.3818C>T c.(3817-3819)TCT>TTT p.S1273F ZNF536_uc010edd.1_Missense_Mutation_p.S1273F NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCCTACAGTTCTGATGGCTTA 0.557 NA 4 53 0 0 0.001984 0 0 SLC7A9 11136 broad.mit.edu 37 19 33350773 33350773 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:33350773G>A uc002ntv.3 - 8 964 c.847C>T c.(847-849)CTC>TTC p.L283F SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.L283F|SLC7A9_uc002ntw.3_Missense_Mutation_p.L74F NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 283 Extracellular (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) GACTGCAGGAGTTCGGTGGCA 0.617 GBM(181;1335 2108 9644 44178 46689) NA 4 44 0 0 0.009096 0 0 MAG 4099 broad.mit.edu 37 19 35791291 35791291 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:35791291G>T uc002nyy.1 + 6 1103 c.954G>T c.(952-954)GTG>GTT p.V318V MAG_uc002nyx.1_Silent_p.V318V|MAG_uc010eds.1_Silent_p.V293V|MAG_uc002nyz.1_Silent_p.V318V NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 318 Ig-like C2-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACCGCACCGTGGGGCTCAGTG 0.652 NA 8 18 5.18039e-06 6.56992e-06 0.00308 1 0 NFKBID 84807 broad.mit.edu 37 19 36380868 36380868 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:36380868C>A uc002oci.1 - 11 1386 c.812G>T c.(811-813)GGG>GTG p.G271V NFKBID_uc002och.1_Missense_Mutation_p.G108V|NFKBID_uc002ocj.1_Missense_Mutation_p.G286V NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 271 ANK 6. inflammatory response nucleus 0 GGGGTCCGCCCCAGCTGCCAA 0.692 NA 11 38 0.00010058 0.000118315 0.013537 1 0 ZFP30 22835 broad.mit.edu 37 19 38126043 38126043 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:38126043C>A uc002ogv.1 - 6 1915 c.1399G>T c.(1399-1401)GAC>TAC p.D467Y ZFP30_uc002ogw.1_Missense_Mutation_p.D467Y|ZFP30_uc002ogx.1_Missense_Mutation_p.D467Y|ZFP30_uc010xtt.1_Missense_Mutation_p.D466Y NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 467 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCTTACAGTCATAGGGCTTT 0.373 NA 15 74 4.7546e-09 6.67289e-09 0.004007 1 0 CATSPERG 57828 broad.mit.edu 37 19 38858712 38858712 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:38858712G>T uc002oih.3 + 26 3042 c.2955G>T c.(2953-2955)ACG>ACT p.T985T CATSPERG_uc002oig.3_Silent_p.T945T|CATSPERG_uc002oif.3_Silent_p.T625T|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 985 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 TCTGGACCACGAGGACCACAA 0.612 NA 27 51 3.80469e-20 6.78713e-20 0.009535 1 0 ITPKC 80271 broad.mit.edu 37 19 41235228 41235228 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:41235228G>T uc002oot.2 + 3 1410 c.1377G>T c.(1375-1377)ATG>ATT p.M459I NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 459 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACTATGGCATGGTGCTGCAGG 0.572 NA 10 22 0.00621372 0.00669487 0.006214 1 0 GRIK5 2901 broad.mit.edu 37 19 42563598 42563598 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:42563598C>T uc002osj.1 - 5 625 c.590G>A c.(589-591)CGG>CAG p.R197Q GRIK5_uc010eib.1_Missense_Mutation_p.R116Q NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 197 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) TGTGGGGTCCCGGCTGTCGTC 0.607 NA 26 57 0 0 0.008361 0 0 ZNF526 116115 broad.mit.edu 37 19 42728897 42728897 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:42728897C>G uc002osz.1 + 3 498 c.342C>G c.(340-342)AGC>AGG p.S114R NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 114 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GTGAATGCAGCCAGCTCATCC 0.627 NA 8 49 0 0 0.00308 0 0 C19orf61 56006 broad.mit.edu 37 19 44251914 44251914 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:44251914C>A uc002oxj.2 - 4 704 c.361G>T c.(361-363)GGC>TGC p.G121C C19orf61_uc002oxk.2_Missense_Mutation_p.G121C|C19orf61_uc010eiy.1_Missense_Mutation_p.G121C NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 121 Pro-rich. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) GGGGCGGTGCCCTCAGGGGTA 0.682 NA 9 28 0.000274275 0.000313549 0.004482 1 0 HIF3A 64344 broad.mit.edu 37 19 46825041 46825041 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:46825041G>T uc002peh.2 + 10 1182 c.1153G>T c.(1153-1155)GGC>TGC p.G385C HIF3A_uc002peg.3_Missense_Mutation_p.G385C|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.G329C|HIF3A_uc002pej.1_Missense_Mutation_p.G316C|HIF3A_uc002pek.2_Missense_Mutation_p.G329C|HIF3A_uc010xxy.1_Missense_Mutation_p.G316C|HIF3A_uc002pel.2_Missense_Mutation_p.G383C|HIF3A_uc010xxz.1_Missense_Mutation_p.G334C NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGACACCCCTGGCCCCCGGAT 0.672 NA 25 68 2.41591e-17 4.11381e-17 0.004656 1 0 PTGIR 5739 broad.mit.edu 37 19 47127082 47127082 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:47127082C>A uc002pex.2 - 2 514 c.401G>T c.(400-402)CGC>CTC p.R134L NM_000960 NP_000951 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 134 Cytoplasmic (Potential). cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GCGGGCGCAGCGGGGCCCGTC 0.701 NA 7 5 0.00621372 0.00669487 0.006214 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48608688 48608688 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:48608688T>A uc002phx.2 - 3 420 c.22A>T c.(22-24)ATA>TTA p.I8L PLA2G4C_uc002phw.2_5'UTR|PLA2G4C_uc010elr.2_Missense_Mutation_p.I8L|PLA2G4C_uc010xzd.1_Intron|PLA2G4C_uc002phy.3_Missense_Mutation_p.I8L NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 8 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CCAGGAATTATGGAAACTTCA 0.458 NA 17 88 0 0 0.007413 0 0 HRC 3270 broad.mit.edu 37 19 49657099 49657099 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:49657099G>A uc002pmv.2 - 1 1583 c.1396C>T c.(1396-1398)CCA>TCA p.P466S NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 466 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GTGTGTCCTGGGGGGTGATGG 0.547 Melanoma(37;75 1097 24567 25669 30645) NA 36 109 0 0 0.005524 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797775 49797775 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:49797775C>A uc002pmz.2 - 8 1499 c.1265G>T c.(1264-1266)GGG>GTG p.G422V SLC6A16_uc002pna.2_Missense_Mutation_p.G422V NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 422 Extracellular (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGGCAGTTTCCCTAGGTTTAT 0.488 NA 35 63 2.95478e-19 5.21368e-19 0.00874 1 0 ZNF578 147660 broad.mit.edu 37 19 53007907 53007907 + Splice_Site SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:53007907G>T uc002pzp.3 + 5 308 c.64_splice c.e5-1 p.G22_splice NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTCATTTTAGGGACGCTTGA 0.398 NA 35 122 1.30998e-17 2.23846e-17 0.005524 1 0 FCAR 2204 broad.mit.edu 37 19 55401176 55401176 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:55401176C>A uc002qhr.1 + 5 1008 c.811C>A c.(811-813)CAG>AAG p.Q271K FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.Q222K|FCAR_uc010esi.1_Missense_Mutation_p.Q148K|FCAR_uc002qhu.1_Missense_Mutation_p.Q175K|FCAR_uc002qhv.1_Missense_Mutation_p.Q249K|FCAR_uc002qhw.1_Missense_Mutation_p.Q259K|FCAR_uc002qhx.1_Missense_Mutation_p.Q163K|FCAR_uc002qhy.1_Missense_Mutation_p.Q237K|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.Q162K NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 271 Cytoplasmic (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CTGGAGCCAACAGATGTGTCA 0.552 NA 44 120 2.47872e-24 4.58988e-24 0.010771 1 0 FIZ1 84922 broad.mit.edu 37 19 56104097 56104097 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:56104097G>A uc002qli.3 - 3 1300 c.1210C>T c.(1210-1212)CCG>TCG p.P404S FIZ1_uc002qlj.3_Missense_Mutation_p.P404S NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GAGCCAGACGGGGGTTCCCCG 0.731 NA 13 22 0 0 0.006122 0 0 U2AF2 11338 broad.mit.edu 37 19 56172460 56172460 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:56172460G>T uc002qlu.2 + 5 1446 c.391G>T c.(391-393)GCT>TCT p.A131S U2AF2_uc002qlt.2_Missense_Mutation_p.A131S NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 131 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TGACGGTCTGGCTGTGACCCC 0.592 NA 13 40 2.48551e-13 3.9428e-13 0.00499 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701551 56701551 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:56701551G>T uc010ygh.1 - 4 1133 c.1133C>A c.(1132-1134)ACA>AAA p.T378K NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 378 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCTGTCTCCTGTGTGTGACCT 0.537 NA 11 32 6.40141e-05 7.65967e-05 0.010729 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701905 56701905 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:56701905C>A uc010ygh.1 - 4 779 c.779G>T c.(778-780)AGA>ATA p.R260I NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 260 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CACAGAGGCTCTTTTCTGGGG 0.493 NA 13 111 9.31168e-06 1.16277e-05 0.001855 1 0 USP29 57663 broad.mit.edu 37 19 57642636 57642636 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:57642636T>A uc002qny.2 + 4 2949 c.2593T>A c.(2593-2595)TCA>ACA p.S865T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 865 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCAGAAATCTCAGAGACCAA 0.443 NA 14 39 0 0 0.00245 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565342 58565342 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr19:58565342G>T uc002qrc.1 + 6 1397 c.1150G>T c.(1150-1152)GTC>TTC p.V384F NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 384 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V384I(1) ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCAGTGTAGCGTCTGCGGGAA 0.692 NA 4 7 0.00909568 0.00973538 0.009096 1 0 PXDN 7837 broad.mit.edu 37 2 1653010 1653010 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:1653010T>A uc002qxa.2 - 17 2606 c.2542A>T c.(2542-2544)AGC>TGC p.S848C NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 848 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACACGTTGCTGCAGTGCTGT 0.657 NA 4 6 0 0 0.001168 0 0 TSSC1 7260 broad.mit.edu 37 2 3200660 3200660 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:3200660C>A uc002qxj.2 - 6 838 c.645G>T c.(643-645)CGG>CGT p.R215R TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 215 WD 2. protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) ACCTCATGCTCCGGGTGTCCC 0.627 Colon(140;1261 1762 4183 34270 49743) NA 12 4 0.00136819 0.00153175 0.013537 1 0 C2orf39 92749 broad.mit.edu 37 2 26652528 26652528 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:26652528G>T uc002rhg.2 + 5 647 c.573G>T c.(571-573)AAG>AAT p.K191N C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 191 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTATGTGAAGGATTTGAAGA 0.438 NA 41 56 2.66277e-13 4.21028e-13 0.006999 1 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873798 48873798 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:48873798A>G uc010yol.1 + 5 2613 c.2566A>G c.(2566-2568)ATT>GTT p.I856V STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I903V|GTF2A1L_uc002rws.1_Missense_Mutation_p.I199V|GTF2A1L_uc010yom.1_Missense_Mutation_p.I165V|GTF2A1L_uc002rwt.2_Missense_Mutation_p.I199V NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 856 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCAACCCGCAATTCTACCTTC 0.403 NA 24 45 0 0 0.004656 0 0 NAT8B 51471 broad.mit.edu 37 2 73928033 73928033 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:73928033C>A uc002sjk.1 - 2 435 c.400G>T c.(400-402)GAG>TAG p.E134* NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 134 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 AACCGCTTCTCCCTCAAGGTG 0.567 NA 12 62 4.3838e-07 5.86514e-07 0.001855 1 0 NAT8B 51471 broad.mit.edu 37 2 73928243 73928243 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:73928243G>T uc002sjk.1 - 2 225 c.190C>A c.(190-192)CTC>ATC p.L64I NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 64 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 CTGAACACGAGGGCCAGAATC 0.567 NA 13 46 9.05144e-12 1.39495e-11 0.001855 1 0 TRIM43 129868 broad.mit.edu 37 2 96260875 96260875 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:96260875A>G uc002suv.2 + 3 625 c.489A>G c.(487-489)AGA>AGG p.R163R NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 163 intracellular zinc ion binding ovary(1) 1 AGGAGGGAAGAACAGCCTTCC 0.393 NA 6 29 0 0 0.00308 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98195478 98195478 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:98195478C>T uc010yvc.1 - 5 866 c.586G>A c.(586-588)GGA>AGA p.G196R ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_Intron NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 196 ANK 6. 0 TCTTTTTCTCCAAGAGTAACA 0.333 NA 4 30 0 0 0.009096 0 0 VWA3B 200403 broad.mit.edu 37 2 98887214 98887214 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:98887214G>T uc002syo.2 + 22 3177 c.2913G>T c.(2911-2913)TTG>TTT p.L971F VWA3B_uc002sym.2_Missense_Mutation_p.L971F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.L628F|VWA3B_uc002syp.1_Missense_Mutation_p.L363F|VWA3B_uc002syq.1_Missense_Mutation_p.L247F|VWA3B_uc002syr.1_Missense_Mutation_p.L288F|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 971 ovary(3)|large_intestine(2)|skin(1) 6 TAGAACGGTTGAATTGGCCCA 0.378 NA 65 138 1.07363e-35 2.03447e-35 0.01441 1 0 CNGA3 1261 broad.mit.edu 37 2 99012551 99012551 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:99012551G>C uc002syt.2 + 8 1335 c.918G>C c.(916-918)TTG>TTC p.L306F CNGA3_uc002syu.2_Missense_Mutation_p.L288F|CNGA3_uc010fij.2_Missense_Mutation_p.L310F NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 306 Helical; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 TTGGGAACTTGGTCTTGTACA 0.463 NA 11 61 0 0 0.008291 0 0 INPP4A 3631 broad.mit.edu 37 2 99185059 99185059 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:99185059G>T uc002syy.2 + 23 2854 c.2461G>T c.(2461-2463)GTC>TTC p.V821F INPP4A_uc010yvj.1_Missense_Mutation_p.V782F|INPP4A_uc010yvk.1_Missense_Mutation_p.V782F|INPP4A_uc002syx.2_Missense_Mutation_p.V816F|INPP4A_uc010fik.2_Missense_Mutation_p.V150F NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 821 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 TTTACAAGAAGTCATCAACGT 0.418 NA 5 12 5.9392e-07 7.90271e-07 0.001168 1 0 MERTK 10461 broad.mit.edu 37 2 112755053 112755053 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:112755053G>T uc002thk.1 + 10 1726 c.1604G>T c.(1603-1605)GGG>GTG p.G535V MERTK_uc002thl.1_Missense_Mutation_p.G359V NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 535 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 ACAAAGTTTGGGTAAGTCTCC 0.423 NA 19 32 2.54575e-18 4.45964e-18 0.010504 1 0 POLR1B 84172 broad.mit.edu 37 2 113316941 113316941 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:113316941C>T uc002thw.2 + 9 1982 c.1402C>T c.(1402-1404)CAT>TAT p.H468Y POLR1B_uc010fkn.2_Missense_Mutation_p.H412Y|POLR1B_uc002thx.2_Missense_Mutation_p.H329Y|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.H506Y|POLR1B_uc002thy.2_Missense_Mutation_p.H329Y|POLR1B_uc010yxo.1_Missense_Mutation_p.H245Y NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 468 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 CTACCTCTCCCATTTCCGCTG 0.502 Ovarian(16;256 576 9537 23969 41147) NA 67 183 0 0 0.01441 0 0 EN1 2019 broad.mit.edu 37 2 119604045 119604045 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:119604045C>T uc002tlm.2 - 1 1715 c.699G>A c.(697-699)GGG>GGA p.G233G NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 233 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 CTCCGGGGCTCCCCGCGCCGC 0.507 NA 3 8 0 0 0.004672 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204514 125204514 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:125204514G>T uc002tno.2 + 6 1282 c.918G>T c.(916-918)GAG>GAT p.E306D CNTNAP5_uc010flu.2_Missense_Mutation_p.E306D NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 306 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGACTATGAGGTGAGTTGAT 0.547 NA 18 29 5.3912e-06 6.81952e-06 0.006122 1 0 CFC1B 653275 broad.mit.edu 37 2 131356256 131356256 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:131356256C>A uc002tro.1 - 3 597 c.206G>T c.(205-207)GGG>GTG p.G69V NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 69 gastrulation extracellular region 0 Colorectal(110;0.1) CTCCTCCGGCCCCCAGCCCTC 0.627 NA 18 75 7.53681e-25 1.4117e-24 0.00632 1 0 GPR148 344561 broad.mit.edu 37 2 131486929 131486929 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:131486929C>A uc002trv.1 + 1 207 c.205C>A c.(205-207)CTG>ATG p.L69M NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 69 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) TGTCAGCCCCCTGCTGCTGGT 0.627 NA 12 30 3.07112e-06 3.92555e-06 0.010729 1 0 LYPD6 130574 broad.mit.edu 37 2 150327362 150327362 + Nonstop_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:150327362T>C uc002twy.2 + 5 709 c.514T>C c.(514-516)TAG>CAG p.*172Q LYPD6_uc010fnt.2_RNA|LYPD6_uc002twz.2_RNA|LYPD6_uc002txa.2_Nonstop_Mutation_p.*172Q NM_194317 NP_919298 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 precursor 172 extracellular region 0 BRCA - Breast invasive adenocarcinoma(221;0.0667) GCTCATGTTATAGTGGCTCAG 0.488 NA 26 71 0 0 0.00632 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711698 155711698 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:155711698C>A uc002tyv.1 + 3 1574 c.1379C>A c.(1378-1380)TCT>TAT p.S460Y KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 460 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AAGATGTTATCTGATCCCATG 0.468 NA 21 50 4.96729e-08 6.83353e-08 0.008871 1 0 CCDC148 130940 broad.mit.edu 37 2 159195539 159195539 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:159195539T>C uc002tzq.2 - 6 808 c.545A>G c.(544-546)CAG>CGG p.Q182R CCDC148_uc002tzr.2_Missense_Mutation_p.Q30R|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.Q129R|CCDC148_uc010foj.1_Missense_Mutation_p.Q30R|CCDC148_uc010fok.1_Missense_Mutation_p.Q96R|CCDC148_uc002tzs.1_Missense_Mutation_p.Q182R NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 182 Potential. ovary(2) 2 TTCTATTCTCTGTTGCTCCAG 0.313 NA 31 70 0 0 0.003271 0 0 SCN3A 6328 broad.mit.edu 37 2 165970389 165970389 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:165970389A>G uc002ucx.2 - 20 4098 c.3606T>C c.(3604-3606)ATT>ATC p.I1202I SCN3A_uc002ucy.2_Silent_p.I1153I|SCN3A_uc002ucz.2_Silent_p.I1153I|SCN3A_uc002uda.1_Silent_p.I1022I|SCN3A_uc002udb.1_Silent_p.I1022I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1202 Helical; Name=S1 of repeat III; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TGTGCTCAACAATACTGTAGC 0.378 NA 43 95 0 0 0.013114 0 0 SCN1A 6323 broad.mit.edu 37 2 166898802 166898802 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:166898802C>A uc010zcz.1 - 12 2161 c.2143G>T c.(2143-2145)GAA>TAA p.E715* SCN1A_uc002udo.3_Nonsense_Mutation_p.E595*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.E567* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 726 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGTTACCAACCTTCTACTGTA 0.343 NA 32 81 2.08457e-15 3.4413e-15 0.010818 1 0 LRP2 4036 broad.mit.edu 37 2 170145561 170145561 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:170145561G>T uc002ues.2 - 9 1230 c.1017C>A c.(1015-1017)AAC>AAA p.N339K LRP2_uc010zdf.1_Missense_Mutation_p.N339K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 339 EGF-like 1.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGTCATTGTGGTTGATGATAT 0.512 NA 19 60 6.33239e-15 1.03486e-14 0.010504 1 0 WIPF1 7456 broad.mit.edu 37 2 175436881 175436881 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:175436881T>A uc002uiy.2 - 6 984 c.652A>T c.(652-654)ACT>TCT p.T218S uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T218S|WIPF1_uc010fqt.1_Missense_Mutation_p.T218S|WIPF1_uc002ujc.1_Missense_Mutation_p.T218S|WIPF1_uc002uiz.2_Missense_Mutation_p.T218S|WIPF1_uc002ujb.1_Missense_Mutation_p.T218S|WIPF1_uc010zep.1_Missense_Mutation_p.T218S NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 218 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGGGGAGGAGTGGGCCCGGGG 0.652 NA 21 42 0 0 0.010504 0 0 EVX2 344191 broad.mit.edu 37 2 176948097 176948097 + Silent SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:176948097A>T uc010zeu.1 - 1 594 c.408T>A c.(406-408)CTT>CTA p.L136L NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 136 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TGTTTTCCTTAAGCTGAGCGG 0.687 NA 8 7 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179458826 179458826 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:179458826G>T uc010zfg.1 - 246 50814 c.50590C>A c.(50590-50592)CGC>AGC p.R16864S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10559S|TTN_uc010zfi.1_Missense_Mutation_p.R10492S|TTN_uc010zfj.1_Missense_Mutation_p.R10367S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17791 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATGAGTGCGATCATCTTCC 0.463 NA 25 74 8.24728e-16 1.36613e-15 0.004656 1 0 TTN 7273 broad.mit.edu 37 2 179466637 179466637 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:179466637C>T uc010zfg.1 - 234 47794 c.47570G>A c.(47569-47571)GGA>GAA p.G15857E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9552E|TTN_uc010zfi.1_Missense_Mutation_p.G9485E|TTN_uc010zfj.1_Missense_Mutation_p.G9360E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16784 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCATGAACTCCATCCTATTA 0.313 NA 9 52 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179614227 179614227 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:179614227T>C uc002unb.2 - 46 13124 c.12900A>G c.(12898-12900)GTA>GTG p.V4300V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 433 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATATTCTTTTACATTTGTCC 0.398 NA 26 72 0 0 0.003954 0 0 COL3A1 1281 broad.mit.edu 37 2 189868727 189868727 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:189868727G>C uc002uqj.1 + 39 2798 c.2681G>C c.(2680-2682)GGT>GCT p.G894A NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 894 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGACCCCCAGGTCCCAGCGGT 0.453 NA 7 15 0 0 0.00308 0 0 COL3A1 1281 broad.mit.edu 37 2 189876399 189876399 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:189876399C>A uc002uqj.1 + 51 4417 c.4300C>A c.(4300-4302)CGC>AGC p.R1434S NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1434 Fibrillar collagen NC1. R -> C (in a colorectal cancer sample; somatic mutation). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.R1434C(1) central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ATATCGAACACGCAAGGCTGT 0.393 NA 27 70 4.87955e-14 7.86869e-14 0.005443 1 0 FZD7 8324 broad.mit.edu 37 2 202899689 202899689 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:202899689G>T uc002uyw.1 + 1 380 c.319G>T c.(319-321)GCG>TCG p.A107S NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 107 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CTCCATGTATGCGCCCGTGTG 0.622 NA OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 53 1.99824e-07 2.70317e-07 0.00499 1 0 ABI2 10152 broad.mit.edu 37 2 204259513 204259513 + Silent SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:204259513C>G uc002vaa.2 + 6 904 c.669C>G c.(667-669)CCC>CCG p.P223P ABI2_uc010zig.1_Intron|ABI2_uc002uzz.2_Silent_p.P217P|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Silent_p.P217P|ABI2_uc010zij.1_Silent_p.P161P|ABI2_uc002vab.2_Silent_p.P172P|ABI2_uc010zik.1_Intron|ABI2_uc010zil.1_Silent_p.P58P|ABI2_uc010zim.1_Intron|ABI2_uc002vac.2_Intron|ABI2_uc010zin.1_5'UTR NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 223 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 ATATGGCTCCCTCGCAGCAGA 0.498 NA 41 112 0 0 0.00874 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209165672 209165672 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:209165672G>C uc002vcz.2 + 9 1220 c.1062G>C c.(1060-1062)CAG>CAC p.Q354H PIKFYVE_uc010fun.1_Missense_Mutation_p.Q35H|PIKFYVE_uc002vcy.1_Missense_Mutation_p.Q354H|PIKFYVE_uc002vcv.2_Missense_Mutation_p.Q257H|PIKFYVE_uc002vcw.2_Missense_Mutation_p.Q354H|PIKFYVE_uc002vcx.2_Missense_Mutation_p.Q268H NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 354 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 ACAGTGTGCAGTTAAAAGACC 0.403 NA 11 91 0 0 0.00245 0 0 ALPPL2 251 broad.mit.edu 37 2 233274340 233274340 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:233274340G>A uc002vss.3 + 11 1410 c.1357G>A c.(1357-1359)GGC>AGC p.G453S NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 453 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GACCCACGCAGGCGAGGACGT 0.657 NA 3 13 0 0 0.004672 0 0 CHRND 1144 broad.mit.edu 37 2 233391241 233391241 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr2:233391241A>T uc002vsw.2 + 2 59 c.55A>T c.(55-57)AGC>TGC p.S19C CHRND_uc010zmg.1_Missense_Mutation_p.S19C|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 19 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTCCCCAGGCAGCTGGGGGCT 0.622 NA 10 62 0 0 0.013537 0 0 TRIB3 57761 broad.mit.edu 37 20 368840 368840 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:368840G>A uc002wdm.2 + 2 692 c.186G>A c.(184-186)GTG>GTA p.V62V TRIB3_uc002wdn.2_Silent_p.V89V NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 62 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CAACTGCTGTGGCCACTGCCT 0.667 Melanoma(101;421 2374 19538) NA 21 67 0 0 0.012319 0 0 TMX4 56255 broad.mit.edu 37 20 7963092 7963092 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:7963092C>A uc002wmx.1 - 8 989 c.856G>T c.(856-858)GCT>TCT p.A286S NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 286 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 ACACCAGCAGCCAAGTTGtcc 0.323 NA 10 43 0.000442599 0.000500106 0.006214 1 0 ZNF831 128611 broad.mit.edu 37 20 57768085 57768085 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:57768085G>C uc002yan.2 + 1 2011 c.2011G>C c.(2011-2013)GTC>CTC p.V671L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 671 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTCAGGCACAGTCCCCACCCA 0.622 NA 6 11 0 0 0.001168 0 0 ZNF831 128611 broad.mit.edu 37 20 57829482 57829482 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:57829482G>T uc002yan.2 + 5 4718 c.4718G>T c.(4717-4719)GGA>GTA p.G1573V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1573 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCAGCTTCAGGACCAAGTTCA 0.493 NA 11 53 0.000673444 0.00075743 0.008291 1 0 TAF4 6874 broad.mit.edu 37 20 60584201 60584201 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:60584201T>C uc002ybs.2 - 5 1791 c.1791A>G c.(1789-1791)AAA>AAG p.K597K NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 597 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) ATAGGAAATTTTTACATTTCT 0.353 NA 23 39 0 0 0.014323 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340383 62340383 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr20:62340383A>G uc002ygk.2 + 2 629 c.451A>G c.(451-453)ATG>GTG p.M151V ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.M151V|ZGPAT_uc002ygj.2_Missense_Mutation_p.M151V|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.M151V|ZGPAT_uc002ygm.2_Missense_Mutation_p.M151V|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 151 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TCACAACGCCATGGTGGTGGG 0.512 NA 28 74 0 0 0.010818 0 0 TPTE 7179 broad.mit.edu 37 21 10944750 10944750 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr21:10944750C>A uc002yip.1 - 11 852 c.484G>T c.(484-486)GAT>TAT p.D162Y TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D144Y|TPTE_uc002yir.1_Missense_Mutation_p.D124Y|TPTE_uc010gkv.1_Missense_Mutation_p.D24Y NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 162 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGGCAGTATCTAAAATGTTA 0.308 NA 9 109 1.33987e-11 2.04551e-11 0.008291 1 0 C21orf91 54149 broad.mit.edu 37 21 19165870 19165870 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr21:19165870C>T uc002yko.3 - 5 847 c.756G>A c.(754-756)GTG>GTA p.V252V C21orf91_uc002ykm.2_5'Flank|C21orf91_uc002ykn.2_5'Flank|C21orf91_uc002ykq.3_Silent_p.V251V|C21orf91_uc002ykp.3_3'UTR NM_001100420 NP_001093890 Q9NYK6 EURL_HUMAN early undifferentiated retina and lens isoform 252 ovary(1) 1 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) CTTTTTCTTGCACTTGGTGAG 0.393 NA 4 28 0 0 0.000602 0 0 NCAM2 4685 broad.mit.edu 37 21 22849786 22849786 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr21:22849786A>G uc002yld.1 + 15 2320 c.2071A>G c.(2071-2073)ATT>GTT p.I691V NCAM2_uc011acb.1_Missense_Mutation_p.I549V NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 691 Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCCCAACATTATTAAAGGTAA 0.333 NA 13 55 0 0 0.00245 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744439 31744439 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr21:31744439G>T uc002ynz.3 - 1 119 c.93C>A c.(91-93)CCC>CCA p.P31P NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 31 intermediate filament 0 CCAGATTGCTGGGGTAGGAAA 0.582 NA 24 49 3.5997e-14 5.84351e-14 0.014323 1 0 MYO18B 84700 broad.mit.edu 37 22 26194047 26194047 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr22:26194047C>A uc003abz.1 + 12 2754 c.2504C>A c.(2503-2505)GCG>GAG p.A835E MYO18B_uc003aca.1_Missense_Mutation_p.A716E|MYO18B_uc010guy.1_Missense_Mutation_p.A716E|MYO18B_uc010guz.1_Missense_Mutation_p.A716E|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348E NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 835 Myosin head-like. A -> G (in a lung squamous cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CACCTGGGTGCGGCGGGGGCC 0.662 NA 8 27 9.70103e-10 1.41449e-09 0.008291 1 0 INPP5J 27124 broad.mit.edu 37 22 31522949 31522949 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr22:31522949G>A uc003aju.3 + 5 1629 c.1537G>A c.(1537-1539)GCC>ACC p.A513T INPP5J_uc010gwf.2_Missense_Mutation_p.A513T|INPP5J_uc003ajv.3_Missense_Mutation_p.A146T|INPP5J_uc003ajs.3_Missense_Mutation_p.A146T|INPP5J_uc011alk.1_Missense_Mutation_p.A446T|INPP5J_uc010gwg.2_Missense_Mutation_p.A78T|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.A145T|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 513 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 GCTGCTGTTCGCCAAGTACTA 0.662 NA 4 7 0 0 0.009096 0 0 MEI1 150365 broad.mit.edu 37 22 42174740 42174740 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr22:42174740C>G uc003baz.1 + 22 2764 c.2739C>G c.(2737-2739)AGC>AGG p.S913R WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.S299R|MEI1_uc003bbc.1_Missense_Mutation_p.S281R|MEI1_uc010gym.1_Intron|MEI1_uc003bbd.1_Missense_Mutation_p.S156R|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_5'Flank|MEI1_uc010gyo.1_5'Flank|MEI1_uc003bbf.2_5'Flank|MEI1_uc003bbg.2_5'Flank NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 913 binding central_nervous_system(1)|skin(1) 2 TGCTGCTGAGCCTCCTCTCCC 0.577 NA 3 9 0 0 0.004672 0 0 PPARA 5465 broad.mit.edu 37 22 46615710 46615710 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr22:46615710G>A uc003bgw.1 + 7 776 c.510G>A c.(508-510)GCG>GCA p.A170A PPARA_uc003bgx.1_Silent_p.A170A|PPARA_uc010hab.1_Silent_p.A170A|PPARA_uc003bha.2_Silent_p.A170A|PPARA_uc003bhb.1_Silent_p.A170A|PPARA_uc010hac.1_Intron NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 170 Nuclear receptor. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) AAACCCTAGCGATTCGTTTTG 0.493 NA 8 53 0 0 0.006214 0 0 MOV10L1 54456 broad.mit.edu 37 22 50572451 50572451 + Silent SNP G G T rs148444495 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr22:50572451G>T uc003bjj.2 + 14 2009 c.1926G>T c.(1924-1926)CGG>CGT p.R642R MOV10L1_uc003bjk.3_Silent_p.R642R|MOV10L1_uc011arp.1_Silent_p.R622R|MOV10L1_uc011arq.1_Silent_p.R403R|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 642 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CAAGCAGACGGTGTCACTTTG 0.343 NA 9 57 7.48243e-07 9.87518e-07 0.006214 1 0 GRIP2 80852 broad.mit.edu 37 3 14552931 14552931 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr3:14552931C>A uc011avi.1 - 16 2071 c.2071G>T c.(2071-2073)GTG>TTG p.V691L GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.V222L NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 593 PDZ 5. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 CTGTGTGCCACGCTGCCTTTC 0.602 NA 11 27 0.000151284 0.00017668 0.001855 1 0 TTC21A 199223 broad.mit.edu 37 3 39174562 39174562 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr3:39174562G>T uc003cjc.2 + 20 2780 c.2603G>T c.(2602-2604)CGG>CTG p.R868L TTC21A_uc003cje.2_Missense_Mutation_p.R869L|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R820L|TTC21A_uc011ayy.1_5'UTR|TTC21A_uc003cjf.2_5'UTR NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 868 TPR 12. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTCCAGTCTCGGATACTGAAG 0.488 NA 8 31 0.000274275 0.000313549 0.004482 1 0 ZBTB38 253461 broad.mit.edu 37 3 141163939 141163939 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr3:141163939C>T uc003etw.2 + 8 3691 c.2709C>T c.(2707-2709)TTC>TTT p.F903F ZBTB38_uc010hun.2_Silent_p.F900F|ZBTB38_uc010huo.2_Silent_p.F903F|ZBTB38_uc003ety.2_Silent_p.F903F|ZBTB38_uc010hup.2_Silent_p.F904F NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 903 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GTGAAGTGTTCGATGACGCAA 0.507 NA 3 16 0 0 0.004672 0 0 WDR49 151790 broad.mit.edu 37 3 167246862 167246862 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr3:167246862C>A uc003fev.1 - 10 1634 c.1328G>T c.(1327-1329)TGG>TTG p.W443L WDR49_uc003feu.1_Missense_Mutation_p.W268L|WDR49_uc011bpd.1_Missense_Mutation_p.W507L|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 443 WD 7. large_intestine(1)|ovary(1)|skin(1) 3 GATTTTCAACCATCCATCAAG 0.358 NA 14 32 0.000151284 0.00017668 0.001855 1 0 SAMD7 344658 broad.mit.edu 37 3 169646344 169646344 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr3:169646344C>T uc003fgd.2 + 7 1286 c.1019C>T c.(1018-1020)CCA>CTA p.P340L SAMD7_uc003fge.2_Missense_Mutation_p.P340L|SAMD7_uc011bpo.1_Missense_Mutation_p.P241L NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 340 SAM. skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CGCAGCCTTCCAGGTTGTTCA 0.398 NA 45 85 0 0 0.01441 0 0 PCDH7 5099 broad.mit.edu 37 4 30724495 30724495 + Missense_Mutation SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:30724495A>C uc003gsk.1 + 1 2459 c.1451A>C c.(1450-1452)AAG>ACG p.K484T PCDH7_uc011bxw.1_Missense_Mutation_p.K437T|PCDH7_uc011bxx.1_Missense_Mutation_p.K484T NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 484 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AACAAGAAAAAGTACTTCTTG 0.632 NA 3 9 0 0 0.009096 0 0 SRD5A3 79644 broad.mit.edu 37 4 56212671 56212671 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:56212671G>A uc003hau.2 + 1 263 c.168G>A c.(166-168)AAG>AAA p.K56K NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 56 Lumenal (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) GGAAAACCAAGTGTGGGGAGC 0.697 NA 3 8 0 0 0.004672 0 0 CCDC158 339965 broad.mit.edu 37 4 77288728 77288728 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:77288728C>A uc003hkb.3 - 11 1702 c.1549G>T c.(1549-1551)GCA>TCA p.A517S NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 517 Potential. skin(3)|ovary(2)|pancreas(1) 6 GTGATCTCTGCATTGGTAGCC 0.483 NA 10 49 0.000442599 0.000500106 0.006214 1 0 PKD2 5311 broad.mit.edu 37 4 88959554 88959554 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:88959554C>G uc003hre.2 + 4 1061 c.995C>G c.(994-996)TCT>TGT p.S332C NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 332 Extracellular (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GGATCCTGCTCTATCCCCCAG 0.488 NA 18 27 0 0 0.007413 0 0 SCLT1 132320 broad.mit.edu 37 4 129867262 129867262 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:129867262C>A uc003igp.2 - 16 1845 c.1339G>T c.(1339-1341)GAA>TAA p.E447* SCLT1_uc003ign.2_Nonsense_Mutation_p.E111*|SCLT1_uc003igo.2_Nonsense_Mutation_p.E57*|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 447 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TGCATTTCTTCCAGTTTTCTG 0.348 NA 15 21 1.05317e-09 1.53103e-09 0.00245 1 0 RBM46 166863 broad.mit.edu 37 4 155720237 155720237 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:155720237C>T uc003ioo.2 + 4 1096 c.923C>T c.(922-924)CCA>CTA p.P308L RBM46_uc011cim.1_Missense_Mutation_p.P308L|RBM46_uc003iop.1_Missense_Mutation_p.P308L NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 308 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) CTAGCTAAACCAGTAAATAAA 0.383 NA 12 26 0 0 0.010729 0 0 NEK1 4750 broad.mit.edu 37 4 170384541 170384541 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:170384541T>A uc003isb.1 - 25 2848 c.2356A>T c.(2356-2358)ACA>TCA p.T786S NEK1_uc003isc.1_Missense_Mutation_p.T742S|NEK1_uc003isd.1_Missense_Mutation_p.T814S|NEK1_uc003ise.1_Missense_Mutation_p.T770S|NEK1_uc003isf.1_Missense_Mutation_p.T717S NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 786 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCTCCCACTGTATGTCCTATA 0.353 NA 28 30 0 0 0.009535 0 0 SLC6A19 340024 broad.mit.edu 37 5 1201769 1201769 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:1201769G>T uc003jbw.3 + 1 60 c.4G>T c.(4-6)GTG>TTG p.V2L NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 2 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACCACCATGGTGAGGCTCGT 0.682 NA 3 13 2.56e-06 3.28084e-06 0.009096 1 0 TRIO 7204 broad.mit.edu 37 5 14507306 14507306 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:14507306G>T uc003jff.2 + 56 8694 c.8688G>T c.(8686-8688)CTG>CTT p.L2896L TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2896 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GGGCGCACCTGGGGGAGGTTC 0.632 NA 10 23 2.80697e-09 3.96231e-09 0.010729 1 0 DAB2 1601 broad.mit.edu 37 5 39390615 39390615 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:39390615G>A uc003jlx.2 - 5 924 c.393C>T c.(391-393)AAC>AAT p.N131N DAB2_uc003jlw.2_Silent_p.N131N NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 131 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) CAAATGCCCGGTTGTCTGTCA 0.408 NA 23 60 0 0 0.00333 0 0 GHR 2690 broad.mit.edu 37 5 42718832 42718832 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:42718832C>T uc003jmt.2 + 10 1266 c.1223C>T c.(1222-1224)ACC>ATC p.T408I GHR_uc011cpq.1_Missense_Mutation_p.T221I NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 408 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATGAGGGTACCTCAGAGGTT 0.468 NA 10 64 0 0 0.013537 0 0 HMGCR 3156 broad.mit.edu 37 5 74652176 74652176 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:74652176G>T uc003kdp.2 + 15 2045 c.1889G>T c.(1888-1890)CGT>CTT p.R630L HMGCR_uc011cst.1_Missense_Mutation_p.R650L|HMGCR_uc003kdq.2_Missense_Mutation_p.R577L|HMGCR_uc010izo.2_5'Flank|HMGCR_uc010izp.2_5'Flank NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 630 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) AGATTTGCACGTCTACAGAAA 0.284 NA 19 46 1.01871e-10 1.5265e-10 0.008871 1 0 YTHDC2 64848 broad.mit.edu 37 5 112927872 112927872 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:112927872G>T uc003kqn.2 + 28 4392 c.4209G>T c.(4207-4209)GGG>GGT p.G1403G NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1403 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GCAGGGATGGGCAGGTATACA 0.353 NA 13 11 2.23348e-06 2.87753e-06 0.004007 1 0 FBN2 2201 broad.mit.edu 37 5 127641204 127641204 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:127641204T>C uc003kuu.2 - 44 6112 c.5673A>G c.(5671-5673)GTA>GTG p.V1891V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1891 EGF-like 30; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTTTCTTACCTACACAGGCCC 0.428 NA 16 27 0 0 0.004007 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175015 140175015 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:140175015G>T uc003lhd.2 + 1 572 c.466G>T c.(466-468)GGA>TGA p.G156* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Nonsense_Mutation_p.G156*|PCDHA2_uc011czy.1_Nonsense_Mutation_p.G156* NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 156 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCTAGAGGGAGCATCTGA 0.438 NA 29 33 4.59853e-10 6.76581e-10 0.005443 1 0 PCDHB2 56133 broad.mit.edu 37 5 140474663 140474663 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:140474663C>A uc003lil.2 + 1 427 c.289C>A c.(289-291)CTG>ATG p.L97M PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 97 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGGAGGAGCTGTGCGGCCC 0.502 NA 14 27 4.14922e-12 6.41482e-12 0.004007 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589646 140589646 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:140589646C>T uc003liz.2 + 1 1356 c.1167C>T c.(1165-1167)ATC>ATT p.I389I PCDHB12_uc011dak.1_Silent_p.I52I NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 389 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGAGGACATCCCATTCGTGC 0.473 NA 6 20 0 0 0.001168 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589974 140589974 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:140589974C>T uc003liz.2 + 1 1684 c.1495C>T c.(1495-1497)CCC>TCC p.P499S PCDHB12_uc011dak.1_Missense_Mutation_p.P162S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 499 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGCACCTGCCCCTCGCCTC 0.677 NA 14 34 0 0 0.00499 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753949 140753949 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:140753949C>T uc003ljy.1 + 1 299 c.299C>T c.(298-300)CCG>CTG p.P100L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.P100L NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 100 Cadherin 1.|Extracellular (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) GCTCAGAGCCCGCGGTGTCTG 0.512 NA 14 46 0 0 0.001855 0 0 C5orf58 133874 broad.mit.edu 37 5 169673105 169673105 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:169673105T>A uc010jjn.2 + 4 380 c.297T>A c.(295-297)AGT>AGA p.S99R C5orf58_uc003mal.2_Intron NM_001102609 NP_001096079 C9J3I9 CE058_HUMAN hypothetical protein LOC133874 99 0 TTTCTAACAGTTTTTCTATCT 0.299 NA 6 27 0 0 0.001984 0 0 LCP2 3937 broad.mit.edu 37 5 169680125 169680125 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:169680125C>G uc003man.1 - 18 1450 c.1243G>C c.(1243-1245)GAG>CAG p.E415Q LCP2_uc011des.1_Missense_Mutation_p.E210Q|LCP2_uc011det.1_Missense_Mutation_p.E244Q NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 415 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TCTCTTACCTCTTCCTCCGCG 0.463 NA 3 11 0 0 0.004672 0 0 SLC34A1 6569 broad.mit.edu 37 5 176820729 176820729 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr5:176820729C>A uc003mgk.3 + 9 1072 c.971C>A c.(970-972)TCC>TAC p.S324Y NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 324 Extracellular (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGCCAACTCCAGCCAGACC 0.537 NA 3 22 2.56e-06 3.28084e-06 0.009096 1 0 RIOK1 83732 broad.mit.edu 37 6 7393347 7393347 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:7393347G>T uc003mxn.2 + 2 261 c.87G>T c.(85-87)TTG>TTT p.L29F RIOK1_uc003mxm.1_5'UTR NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 29 ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) ACAGAGACTTGAAGACAGTCA 0.234 NA 14 49 7.93312e-07 1.04417e-06 0.00245 1 0 JARID2 3720 broad.mit.edu 37 6 15496943 15496943 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:15496943G>A uc003nbj.2 + 7 1731 c.1487G>A c.(1486-1488)AGG>AAG p.R496K JARID2_uc011diu.1_Missense_Mutation_p.R360K|JARID2_uc011div.1_Missense_Mutation_p.R324K|JARID2_uc011diw.1_Missense_Mutation_p.R458K NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 496 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGTCTGGAGAGGAATCGGCCG 0.657 NA 3 29 0 0 0.009096 0 0 CAP2 10486 broad.mit.edu 37 6 17539605 17539605 + Nonsense_Mutation SNP G G T rs147812744 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:17539605G>T uc003ncb.2 + 8 985 c.742G>T c.(742-744)GAG>TAG p.E248* CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Nonsense_Mutation_p.E222*|CAP2_uc011djb.1_Nonsense_Mutation_p.E184*|CAP2_uc011djc.1_Nonsense_Mutation_p.E136*|CAP2_uc011djd.1_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN adenylyl cyclase-associated protein 2 248 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding ovary(1) 1 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TCCACTTTTCGAGAATGAAGG 0.502 NA 27 77 1.2476e-16 2.10965e-16 0.00632 1 0 BTN3A3 10384 broad.mit.edu 37 6 26448954 26448954 + Splice_Site SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:26448954A>T uc003nhz.2 + 8 1118 c.938_splice c.e8-2 p.K313_splice BTN3A3_uc003nia.2_Splice_Site_p.K271_splice|BTN3A3_uc011dkn.1_Splice_Site_p.E264_splice NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a integral to membrane 0 ATTCCATTGCAGAGTGGAGGA 0.443 NA 32 101 0 0 0.004289 0 0 OR10C1 442194 broad.mit.edu 37 6 29408195 29408195 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:29408195C>A uc011dlp.1 + 1 403 c.403C>A c.(403-405)CTG>ATG p.L135M OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCACTGCTGCTGAGCCACCG 0.627 NA 9 48 3.09899e-07 4.16908e-07 0.004482 1 0 OR2H1 26716 broad.mit.edu 37 6 29430207 29430207 + Nonsense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:29430207C>T uc003nmi.2 + 3 1104 c.661C>T c.(661-663)CAG>TAG p.Q221* OR2H1_uc003nmj.1_Nonsense_Mutation_p.Q221*|OR2H1_uc010jri.1_Nonsense_Mutation_p.Q143* NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCCACTGCCCAGGCAGTGCT 0.532 NA 12 97 0 0 0.001855 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:29910607G>C uc003nol.2 + 2 147 c.147G>C c.(145-147)GTG>GTC p.V49V HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Silent_p.V49V|HLA-A_uc003noo.2_Silent_p.V49V|HLA-A_uc010jrr.2_Silent_p.V49V|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCATCGCCGTGGGCTACGTGG 0.692 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 3 18 0 0 0.004672 0 0 GPR115 221393 broad.mit.edu 37 6 47682320 47682320 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:47682320G>T uc003oza.1 + 6 1597 c.1339G>T c.(1339-1341)GCA>TCA p.A447S GPR115_uc003oyz.1_Missense_Mutation_p.A504S|GPR115_uc003ozb.1_Missense_Mutation_p.A445S NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 447 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CGTGAATATAGCAGTGTCCCT 0.468 GBM(22;431 510 9010 26644 32828) NA 24 115 1.10923e-09 1.60773e-09 0.00278 1 0 TFAP2D 83741 broad.mit.edu 37 6 50683135 50683135 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:50683135C>A uc003paf.2 + 2 858 c.346C>A c.(346-348)CTG>ATG p.L116M TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 116 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CTTTATTAACCTGCACAATGC 0.637 NA 12 38 2.32078e-09 3.29511e-09 0.003163 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696702 50696702 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:50696702C>T uc003paf.2 + 4 1244 c.732C>T c.(730-732)CTC>CTT p.L244L TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 244 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CTGAGTGCCTCAATGCTTCAC 0.468 NA 6 58 0 0 0.001168 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55406914 55406914 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:55406914G>A uc003pcn.2 - 3 382 c.223C>T c.(223-225)CCT>TCT p.P75S HMGCLL1_uc003pco.2_Missense_Mutation_p.P45S|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P45S|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P45S|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P45S|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P45S NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 75 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACAAACTCAGGGAGTCCAGAT 0.323 Ovarian(35;840 893 7837 15538 42887) NA 9 25 0 0 0.006214 0 0 COL19A1 1310 broad.mit.edu 37 6 70890390 70890390 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:70890390G>T uc003pfc.1 + 44 2867 c.2750G>T c.(2749-2751)GGA>GTA p.G917V NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 917 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGTTTCCCTGGACCAGAAGGA 0.408 NA 27 60 1.80694e-10 2.69933e-10 0.009535 1 0 MTO1 25821 broad.mit.edu 37 6 74183111 74183111 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:74183111G>T uc003pgy.3 + 4 683 c.559G>T c.(559-561)GAG>TAG p.E187* MTO1_uc010kav.2_Nonsense_Mutation_p.E187*|MTO1_uc003pgz.3_Nonsense_Mutation_p.E187*|MTO1_uc003pha.3_Intron|MTO1_uc003phb.3_Nonsense_Mutation_p.E113* NM_133645 NP_598400 Q9Y2Z2 MTO1_HUMAN mitochondrial translation optimization 1 homolog 187 tRNA processing mitochondrion flavin adenine dinucleotide binding ovary(3)|skin(2)|pancreas(1) 6 AGTATATGCAGAGAGTGTGAT 0.318 NA 22 37 1.42536e-11 2.16246e-11 0.004656 1 0 SENP6 26054 broad.mit.edu 37 6 76405596 76405596 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:76405596C>G uc003pid.3 + 17 2771 c.2152C>G c.(2152-2154)CTT>GTT p.L718V SENP6_uc003pie.3_Missense_Mutation_p.L711V|SENP6_uc010kbf.2_RNA NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 718 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) CTATAAACGCCTTAATCAGAG 0.318 NA 15 90 0 0 0.004007 0 0 C6orf165 154313 broad.mit.edu 37 6 88123581 88123581 + Missense_Mutation SNP G G T rs140621996 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:88123581G>T uc003plv.2 + 4 338 c.246G>T c.(244-246)AAG>AAT p.K82N C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.K82N NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 82 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACACTATTAAGATGCAAGTCT 0.333 NA 13 50 7.05477e-17 1.1971e-16 0.00499 1 0 PM20D2 135293 broad.mit.edu 37 6 89871553 89871553 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:89871553A>G uc003pmz.2 + 6 1195 c.1100A>G c.(1099-1101)TAT>TGT p.Y367C NM_001010853 NP_001010853 Q8IYS1 P20D2_HUMAN aminoacylase 1-like 2 367 hydrolase activity 0 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) ATTCATCCATATTTTCACATT 0.368 NA 25 67 0 0 0.008361 0 0 COL10A1 1300 broad.mit.edu 37 6 116441292 116441292 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:116441292A>G uc003pwm.2 - 3 2083 c.1987T>C c.(1987-1989)TAC>CAC p.Y663H NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 663 Nonhelical region (NC1).|C1q. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) TCAGAGGAGTATAGGCCATTT 0.478 NA 14 68 0 0 0.001855 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599090 136599090 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:136599090G>T uc003qgx.1 - 4 1182 c.929C>A c.(928-930)GCT>GAT p.A310D BCLAF1_uc003qgw.1_Missense_Mutation_p.A310D|BCLAF1_uc003qgy.1_Missense_Mutation_p.A308D|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.A308D NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 310 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATCTCTTGGAGCATTCTGTGG 0.433 Colon(142;1534 1789 5427 7063 28491) NA 19 88 7.41877e-09 1.03523e-08 0.012319 1 0 TIAM2 26230 broad.mit.edu 37 6 155458398 155458398 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:155458398G>T uc003qqb.2 + 7 2555 c.1282G>T c.(1282-1284)GCT>TCT p.A428S TIAM2_uc003qqe.2_Missense_Mutation_p.A428S|TIAM2_uc010kjj.2_5'UTR NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 428 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCAGGCATCTGCTTTTCTGTG 0.527 NA 11 69 2.80697e-09 3.96231e-09 0.010729 1 0 IGF2R 3482 broad.mit.edu 37 6 160499257 160499257 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:160499257A>T uc003qta.2 + 37 5489 c.5341A>T c.(5341-5343)AGC>TGC p.S1781C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1781 Lumenal (Potential).|12. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTTAAGGACCAGCGAGTGCGA 0.532 NA 8 87 0 0 0.008291 0 0 AGPAT4 56895 broad.mit.edu 37 6 161575192 161575192 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr6:161575192C>A uc003qtr.1 - 4 726 c.499G>T c.(499-501)GAG>TAG p.E167* AGPAT4_uc003qts.1_Nonsense_Mutation_p.E27*|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Nonsense_Mutation_p.E167*|AGPAT4_uc011egd.1_Nonsense_Mutation_p.E105*|AGPAT4_uc011ege.1_Missense_Mutation_p.R110L NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 167 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) AAATACTTCTCGGGGTAGTCC 0.577 NA 7 36 0.00307968 0.00339322 0.00308 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18067064 18067064 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:18067064A>G uc003stz.2 - 1 423 c.342T>C c.(340-342)AAT>AAC p.N114N NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 114 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) TAGAGAGCATATTTGCAACAA 0.473 NA 20 63 0 0 0.010504 0 0 GPR141 353345 broad.mit.edu 37 7 37780793 37780793 + Missense_Mutation SNP C C A rs146749644 byFrequency TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:37780793C>A uc003tfm.1 + 1 798 c.798C>A c.(796-798)AAC>AAA p.N266K uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 266 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 CATTTTATAACGAAATCTTCT 0.383 NA 12 221 5.50884e-06 6.93231e-06 0.013537 1 0 CDK13 8621 broad.mit.edu 37 7 40127867 40127867 + Missense_Mutation SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:40127867A>G uc003thh.3 + 12 3454 c.3172A>G c.(3172-3174)ACA>GCA p.T1058A CDK13_uc003thi.3_Missense_Mutation_p.T1058A|CDK13_uc003thj.2_Missense_Mutation_p.T109A NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1058 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 CAGAACCAACACACCCCAGGG 0.502 NA 5 54 0 0 0.00308 0 0 POLM 27434 broad.mit.edu 37 7 44119252 44119252 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:44119252T>C uc003tjt.2 - 4 652 c.560A>G c.(559-561)AAG>AGG p.K187R POLM_uc003tju.2_Missense_Mutation_p.K187R|POLM_uc003tjx.2_Missense_Mutation_p.K187R|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.K187R|POLM_uc011kbu.1_Missense_Mutation_p.K154R|POLM_uc010kxy.2_Missense_Mutation_p.K187R NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 187 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GGGAAGGGCCTTGAGCACCGA 0.622 NA DNA_polymerases_(catalytic_subunits) 31 44 0 0 0.003271 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560666 44560666 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:44560666C>A uc003tlb.2 - 13 3061 c.3005G>T c.(3004-3006)AGG>ATG p.R1002M NPC1L1_uc003tlc.2_Missense_Mutation_p.R1002M|NPC1L1_uc011kbw.1_Missense_Mutation_p.R956M|NPC1L1_uc003tla.2_Missense_Mutation_p.R5M NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1002 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CACCGAGGGCCTCACAGAGCC 0.567 NA 35 215 5.71845e-15 9.37672e-15 0.005524 1 0 WBSCR17 64409 broad.mit.edu 37 7 71142242 71142242 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:71142242T>A uc003tvy.2 + 9 1451 c.1451T>A c.(1450-1452)CTG>CAG p.L484Q WBSCR17_uc003tvz.2_Missense_Mutation_p.L183Q NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 484 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAGGGGCCGCTGGAGAACCAC 0.537 NA 19 179 0 0 0.007413 0 0 PTPN12 5782 broad.mit.edu 37 7 77261701 77261701 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:77261701C>T uc003ugh.2 + 14 2124 c.2033C>T c.(2032-2034)CCT>CTT p.P678L PTPN12_uc011kgp.1_Missense_Mutation_p.P559L|PTPN12_uc011kgq.1_Missense_Mutation_p.P548L|PTPN12_uc010lds.2_Missense_Mutation_p.P410L NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 678 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 CCTCCCCTACCTGAAAGAACT 0.318 NA 57 104 0 0 0.01441 0 0 RSBN1L 222194 broad.mit.edu 37 7 77378976 77378976 + Silent SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:77378976T>C uc010ldt.1 + 3 983 c.939T>C c.(937-939)TAT>TAC p.Y313Y RSBN1L_uc003ugm.2_Silent_p.Y95Y NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 313 nucleus ovary(1) 1 CCAAGAACTATGATTCCAAAA 0.378 NA 39 57 0 0 0.006999 0 0 PCLO 27445 broad.mit.edu 37 7 82791757 82791757 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:82791757T>C uc003uhx.2 - 1 441 c.152A>G c.(151-153)GAG>GGG p.E51G PCLO_uc003uhv.2_Missense_Mutation_p.E51G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 51 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCTCCTCTCCTCTTCGCTCAG 0.701 NA 2 3 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100676470 100676470 + Silent SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:100676470A>C uc003uxp.1 + 3 1826 c.1773A>C c.(1771-1773)TCA>TCC p.S591S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 591 Extracellular (Potential).|7.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCACCACTTCAACAACTCCTG 0.483 NA 22 183 0 0 0.00333 0 0 DOCK4 9732 broad.mit.edu 37 7 111368560 111368560 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:111368560C>A uc003vfx.2 - 52 5940 c.5671G>T c.(5671-5673)GAG>TAG p.E1891* DOCK4_uc011kml.1_Nonsense_Mutation_p.E772*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.E760*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.E1303*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.E1936*|DOCK4_uc003vfv.2_Nonsense_Mutation_p.E204* NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1891 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CGCACTGGCTCCTCCCCGCCG 0.667 NA 9 28 1.58986e-06 2.08135e-06 0.008291 1 0 TMEM209 84928 broad.mit.edu 37 7 129842495 129842495 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:129842495G>A uc003vpn.2 - 4 331 c.208C>T c.(208-210)CTT>TTT p.L70F TMEM209_uc010lmc.1_Missense_Mutation_p.L70F|TMEM209_uc003vpo.2_Missense_Mutation_p.L70F NM_032842 NP_116231 Q96SK2 TM209_HUMAN transmembrane protein 209 70 Helical; (Potential). integral to membrane ovary(2)|large_intestine(1) 3 Melanoma(18;0.0435) AGAGATGCAAGGGCAAGCTCT 0.388 NA 17 24 0 0 0.004007 0 0 CPA4 51200 broad.mit.edu 37 7 129950739 129950739 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:129950739G>A uc003vpr.2 + 9 953 c.906G>A c.(904-906)AAG>AAA p.K302K CPA4_uc011kpd.1_Silent_p.K269K|CPA4_uc011kpe.1_Silent_p.K198K NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 302 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GGAATTTCAAGGGCTTCATCG 0.512 NA 25 163 0 0 0.010818 0 0 KCNH2 3757 broad.mit.edu 37 7 150649748 150649748 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:150649748G>T uc003wic.2 - 6 1335 c.1322C>A c.(1321-1323)CCT>CAT p.P441H KCNH2_uc003wib.2_Missense_Mutation_p.P101H|KCNH2_uc011kux.1_Missense_Mutation_p.P345H|KCNH2_uc003wid.2_Missense_Mutation_p.P101H|KCNH2_uc003wie.2_Missense_Mutation_p.P441H NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 441 Extracellular (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CTCGGTAGCAGGCGGGCCTTC 0.602 GBM(137;110 1844 13671 20123 45161) NA 40 59 1.49673e-21 2.7097e-21 0.00623 1 0 ESYT2 57488 broad.mit.edu 37 7 158534254 158534254 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr7:158534254C>A uc003wob.1 - 17 2275 c.2209G>T c.(2209-2211)GCC>TCC p.A737S ESYT2_uc003woc.1_Missense_Mutation_p.A561S|ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.A176S|ESYT2_uc003woa.1_Missense_Mutation_p.A314S NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 765 integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 TCCTGGGTGGCGATGGGCAGC 0.637 NA 5 39 0.00116845 0.00131114 0.001168 1 0 RP1L1 94137 broad.mit.edu 37 8 10470795 10470795 + Silent SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:10470795C>G uc003wtc.2 - 4 1042 c.813G>C c.(811-813)ACG>ACC p.T271T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 271 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCAGCCGTGGCGTGCTGCCTG 0.647 NA 25 49 0 0 0.004656 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19297443 19297443 + Splice_Site SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:19297443C>G uc011kyn.1 - 6 1916 c.852_splice c.e6-1 p.R284_splice CSGALNACT1_uc011kyo.1_Splice_Site_p.R284_splice|CSGALNACT1_uc003wzg.2_Splice_Site|CSGALNACT1_uc011kyp.1_Splice_Site_p.R283_splice|CSGALNACT1_uc003wzh.2_Intron NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GCACATCTCCCTGGAAAACAA 0.413 NA 10 32 0 0 0.010729 0 0 STC1 6781 broad.mit.edu 37 8 23711941 23711941 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:23711941G>T uc003xdw.1 - 1 380 c.96C>A c.(94-96)TCC>TCA p.S32S NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 32 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CCGCCACTCGGGATTTCCTGG 0.532 NA 10 46 7.48243e-07 9.87518e-07 0.006214 1 0 C8orf80 389643 broad.mit.edu 37 8 27886883 27886883 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:27886883C>A uc003xgm.3 - 17 2197 c.2054G>T c.(2053-2055)CGG>CTG p.R685L NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 685 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) ATCTTTCATCCGCTCACACGC 0.522 NA 3 16 6.4e-05 7.65967e-05 0.004672 1 0 TEX15 56154 broad.mit.edu 37 8 30705647 30705647 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:30705647C>T uc003xil.2 - 1 887 c.887G>A c.(886-888)TGT>TAT p.C296Y NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 296 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TATTTTATCACAGCTTTTCCC 0.303 NA 22 35 0 0 0.012319 0 0 KCNU1 157855 broad.mit.edu 37 8 36694348 36694348 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:36694348C>A uc010lvw.2 + 14 1490 c.1403C>A c.(1402-1404)ACC>AAC p.T468N KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 468 RCK N-terminal.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AACTGGGACACCGGAGACAAC 0.443 NA 27 43 3.73988e-18 6.48158e-18 0.00632 1 0 SNTG1 54212 broad.mit.edu 37 8 51621516 51621516 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:51621516T>C uc010lxy.1 + 18 1633 c.1262T>C c.(1261-1263)ATC>ACC p.I421T SNTG1_uc003xqs.1_Missense_Mutation_p.I421T|SNTG1_uc010lxz.1_Missense_Mutation_p.I421T|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 421 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ACAGGATTTATCTGCTTTGAT 0.373 NA 13 53 0 0 0.001855 0 0 SOX17 64321 broad.mit.edu 37 8 55370910 55370910 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:55370910C>A uc003xsb.3 + 1 416 c.212C>A c.(211-213)CCG>CAG p.P71Q NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 71 HMG box. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) ATCCGGCGGCCGATGAACGCT 0.677 NA 6 15 3.59834e-05 4.39195e-05 0.001168 1 0 RP1 6101 broad.mit.edu 37 8 55537445 55537445 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:55537445A>T uc003xsd.1 + 4 1151 c.1003A>T c.(1003-1005)ATG>TTG p.M335L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 335 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACAGTTGAGATGAAAGTTCG 0.318 Colon(91;1014 1389 7634 14542 40420) NA 12 29 0 0 0.010729 0 0 GGH 8836 broad.mit.edu 37 8 63927974 63927974 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:63927974C>A uc003xuw.2 - 9 1157 c.874G>T c.(874-876)GAG>TAG p.E292* NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 292 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) GCTTTCTCCTCTTCAGATTCA 0.279 NA 4 26 0.00909568 0.00973538 0.009096 1 0 KCNB2 9312 broad.mit.edu 37 8 73848769 73848769 + Silent SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:73848769A>T uc003xzb.2 + 3 1767 c.1179A>T c.(1177-1179)CTA>CTT p.L393L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 393 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AAACATTACTAGGGAAAATTG 0.438 NA 27 58 0 0 0.005443 0 0 KCNB2 9312 broad.mit.edu 37 8 73850219 73850219 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:73850219G>T uc003xzb.2 + 3 3217 c.2629G>T c.(2629-2631)GAC>TAC p.D877Y NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 877 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AGTCAAAAAGGACAGTAGTCA 0.488 NA 11 64 5.16669e-11 7.76598e-11 0.010729 1 0 FABP9 646480 broad.mit.edu 37 8 82370629 82370629 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:82370629C>T uc011lfo.1 - 4 388 c.388G>A c.(388-390)GAA>AAA p.E130K NM_001080526 NP_001073995 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 130 lipid binding|transporter activity 0 Epithelial(68;0.186) CACACCTTTTCGTAGATTCTG 0.398 NA 10 79 0 0 0.001855 0 0 FAM82B 51115 broad.mit.edu 37 8 87498840 87498840 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:87498840C>A uc003ydu.2 - 4 528 c.368G>T c.(367-369)CGG>CTG p.R123L FAM82B_uc011lfz.1_Missense_Mutation_p.R123L|FAM82B_uc011lga.1_Missense_Mutation_p.R123L NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 123 microtubule|spindle pole binding ovary(1) 1 ACGTGATGCCCGTGCCAAACG 0.373 NA 33 41 4.4194e-11 6.684e-11 0.013726 1 0 CNBD1 168975 broad.mit.edu 37 8 88249219 88249220 + Missense_Mutation DNP TG TG GA TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:88249219_88249220TG>GA uc003ydy.2 + 6 698_699 c.650_651TG>GA c.(649-651)CTG>CGA p.L217R NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 217 ovary(3) 3 TATAAAAATCTGATTGAAGGAA 0.361 NA 62 67 0 0 0.004672 0 0 TMEM67 91147 broad.mit.edu 37 8 94808196 94808196 + Missense_Mutation SNP G G C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:94808196G>C uc011lgk.1 + 18 1912 c.1841G>C c.(1840-1842)GGA>GCA p.G614A TMEM67_uc010maw.2_Missense_Mutation_p.G320A|TMEM67_uc003yga.3_Missense_Mutation_p.G533A|TMEM67_uc011lgl.1_Missense_Mutation_p.G13A NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 614 Helical; (Potential). cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ACTTATGTTGGATGTGCCTTT 0.328 NA 26 154 0 0 0.008361 0 0 FBXO43 286151 broad.mit.edu 37 8 101153696 101153696 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:101153696G>A uc003yjd.2 - 2 1499 c.786C>T c.(784-786)ATC>ATT p.I262I FBXO43_uc003yje.2_Silent_p.I228I|FBXO43_uc010mbp.1_Silent_p.I262I NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 262 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AGTCATGTGTGATAGAGTCTT 0.378 NA 26 33 0 0 0.00333 0 0 TM7SF4 81501 broad.mit.edu 37 8 105360984 105360984 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:105360984G>A uc003ylx.1 + 2 253 c.204G>A c.(202-204)ACG>ACA p.T68T NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 68 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGATTATCACGTGTGTTCTGC 0.507 NA 7 88 0 0 0.00308 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487490 110487490 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:110487490G>A uc003yne.2 + 51 8853 c.8749G>A c.(8749-8751)GGA>AGA p.G2917R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2917 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACATTCTATGGATTCAAGGT 0.353 NA HNSCC(38;0.096) 6 34 0 0 0.001168 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110520355 110520355 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:110520355C>T uc003yne.2 + 70 11361 c.11257C>T c.(11257-11259)CTT>TTT p.L3753F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3753 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGTAAGTACCTTCCAGAGTG 0.353 NA HNSCC(38;0.096) 14 84 0 0 0.004007 0 0 CSMD3 114788 broad.mit.edu 37 8 113246614 113246614 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:113246614T>A uc003ynu.2 - 68 10879 c.10720A>T c.(10720-10722)AAT>TAT p.N3574Y CSMD3_uc003yns.2_Missense_Mutation_p.N2776Y|CSMD3_uc003ynt.2_Missense_Mutation_p.N3534Y|CSMD3_uc011lhx.1_Missense_Mutation_p.N3405Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3574 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATTGCCCAATTTTCTTCCTTC 0.348 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 148 0 0 0.00499 0 0 TRPS1 7227 broad.mit.edu 37 8 116632271 116632271 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:116632271C>T uc003ynz.2 - 2 474 c.15G>A c.(13-15)AAG>AAA p.K5K TRPS1_uc011lhy.1_Silent_p.K9K|TRPS1_uc003yny.2_Silent_p.K18K|TRPS1_uc010mcy.2_Silent_p.K5K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 5 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGGGGGGTTCTTTTTCCGGA 0.413 NA Langer-Giedion_syndrome 3 51 0 0 0.009096 0 0 COL14A1 7373 broad.mit.edu 37 8 121259871 121259871 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr8:121259871G>T uc003yox.2 + 21 2764 c.2499G>T c.(2497-2499)CAG>CAT p.Q833H COL14A1_uc003yoy.2_Missense_Mutation_p.Q511H NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 833 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CGGGGCCCCAGAACTTGCGGG 0.463 NA 8 64 5.4927e-09 7.68663e-09 0.004482 1 0 C9orf93 203238 broad.mit.edu 37 9 15784564 15784564 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:15784564C>T uc003zmd.2 + 21 3454 c.3139C>T c.(3139-3141)CTT>TTT p.L1047F C9orf93_uc003zme.2_Missense_Mutation_p.L962F|C9orf93_uc011lmu.1_Missense_Mutation_p.L1055F|C9orf93_uc003zmf.1_Missense_Mutation_p.L355F NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1047 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) TAATGCATTACTTCGGGAAGA 0.383 NA 18 28 0 0 0.006122 0 0 PTENP1 11191 broad.mit.edu 37 9 33676393 33676393 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:33676393G>A uc003zth.3 - 1 1026 c.155C>T c.(154-156)GCG>GTG p.A52V NR_023917 SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment; 0 AGGATATTGCGCAACTCTGTA 0.368 NA 23 43 0 0 0.00278 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420299 69420299 + Missense_Mutation SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:69420299A>C uc004afn.2 + 13 1301 c.1189A>C c.(1189-1191)ATA>CTA p.I397L NM_001098805 NP_001092275 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 397 0 AAGTGAAAAAATACAACTTTC 0.289 NA 4 59 0 0 0.001984 0 0 PAPPA 5069 broad.mit.edu 37 9 119065156 119065156 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:119065156C>A uc004bjn.2 + 10 3455 c.3074C>A c.(3073-3075)TCC>TAC p.S1025Y PAPPA_uc011lxp.1_Missense_Mutation_p.S720Y|PAPPA_uc011lxq.1_Missense_Mutation_p.S400Y NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1025 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CAGTGGGCATCCAATGCTTCA 0.502 NA 12 39 6.40141e-05 7.65967e-05 0.010729 1 0 ASTN2 23245 broad.mit.edu 37 9 119625875 119625875 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:119625875G>T uc004bjs.1 - 11 2128 c.2027C>A c.(2026-2028)TCC>TAC p.S676Y ASTN2_uc004bjr.1_Missense_Mutation_p.S672Y|ASTN2_uc004bjt.1_Missense_Mutation_p.S625Y NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 676 Extracellular (Potential).|EGF-like 2. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 ACATCCCGAGGAATCCACCTG 0.607 NA 6 22 8.12818e-05 9.60783e-05 0.001984 1 0 TLR4 7099 broad.mit.edu 37 9 120476448 120476448 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:120476448C>A uc004bjz.2 + 3 2333 c.2042C>A c.(2041-2043)TCA>TAA p.S681* TLR4_uc004bka.2_Nonsense_Mutation_p.S641*|TLR4_uc004bkb.2_Nonsense_Mutation_p.S481* NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 681 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GTTATCTACTCAAGCCAGGAT 0.428 NA 23 40 1.64293e-13 2.61473e-13 0.00333 1 0 OR1N1 138883 broad.mit.edu 37 9 125288841 125288841 + Silent SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:125288841G>A uc004bmn.1 - 1 732 c.732C>T c.(730-732)TGC>TGT p.C244C NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 CACAAACAACGCAGAGGTGGG 0.552 NA 5 21 0 0 0.001168 0 0 TSC1 7248 broad.mit.edu 37 9 135797349 135797349 + Nonsense_Mutation SNP C C A rs118203392 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:135797349C>A uc004cca.2 - 7 754 c.520G>T c.(520-522)GAA>TAA p.E174* TSC1_uc004ccb.3_Nonsense_Mutation_p.E174*|TSC1_uc011mcq.1_Nonsense_Mutation_p.E123*|TSC1_uc011mcr.1_Nonsense_Mutation_p.E53*|TSC1_uc011mcs.1_Nonsense_Mutation_p.E53*|TSC1_uc004ccc.1_Nonsense_Mutation_p.E174*|TSC1_uc004ccd.2_Nonsense_Mutation_p.E174*|TSC1_uc004cce.1_Nonsense_Mutation_p.E174* NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 174 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AGATAGACTTCCGCCACGTGG 0.483 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 15 47 2.32078e-09 3.29511e-09 0.003163 1 0 KCNT1 57582 broad.mit.edu 37 9 138670655 138670655 + Nonsense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:138670655C>T uc011mdq.1 + 23 2790 c.2716C>T c.(2716-2718)CAG>TAG p.Q906* KCNT1_uc011mdr.1_Nonsense_Mutation_p.Q733*|KCNT1_uc010nbf.2_Nonsense_Mutation_p.Q861*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.Q655* NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 906 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGTCAACGTGCAGACCATGTT 0.637 NA 4 19 0 0 0.009096 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + Missense_Mutation SNP G G A rs142836124 by1000genomes TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:141070116G>A uc004com.2 + 3 275 c.14G>A c.(13-15)CGC>CAC p.R5H TUBBP5_uc010ncq.2_Missense_Mutation_p.R119H RecName: Full=Putative tubulin beta-4q chain; 0 GACTCTGTGCGCTCGGGGCCC 0.687 NA 4 45 0 0 0.009096 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + Missense_Mutation SNP C C T rs143443709 by1000genomes TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:141070139C>T uc004com.2 + 3 298 c.37C>T c.(37-39)CTC>TTC p.L13F TUBBP5_uc010ncq.2_Missense_Mutation_p.L127F RecName: Full=Putative tubulin beta-4q chain; 0 CGGGCAGGTCCTCAGGCCAGA 0.667 NA 4 48 0 0 0.009096 0 0 BEND2 139105 broad.mit.edu 37 X 18183163 18183163 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:18183163G>A uc004cyj.3 - 14 2520 c.2366C>T c.(2365-2367)CCA>CTA p.P789L NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 789 ovary(3)|kidney(1)|central_nervous_system(1) 5 GGGATCTCCTGGCTTTGACTC 0.498 NA 33 129 0 0 0.004289 0 0 SCML2 10389 broad.mit.edu 37 X 18260586 18260587 + Missense_Mutation DNP GC GC TT TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:18260586_18260587GC>TT uc004cyl.2 - 14 2103_2104 c.1946_1947GC>AA c.(1945-1947)GGC>GAA p.G649E SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 649 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) CGGCGAGGGGGCCTGATATCTG 0.475 Esophageal Squamous(100;1252 1965 19021 35517) NA 16 42 0 0 0.004672 0 0 CDKL5 6792 broad.mit.edu 37 X 18622582 18622582 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:18622582C>T uc004cym.2 + 12 1791 c.1538C>T c.(1537-1539)ACC>ATC p.T513I CDKL5_uc004cyn.2_Missense_Mutation_p.T513I NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 513 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GAGCCCAGTACCAGTAGGTAC 0.552 NA 22 114 0 0 0.00278 0 0 MAP3K15 389840 broad.mit.edu 37 X 19379644 19379644 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:19379644C>A uc004czk.1 - 28 3809 c.2172G>T c.(2170-2172)CGG>CGT p.R724R MAP3K15_uc004czj.1_Silent_p.R684R|PDHA1_uc004czg.3_3'UTR|PDHA1_uc004czh.3_3'UTR|PDHA1_uc011mjc.1_3'UTR|PDHA1_uc011mjd.1_3'UTR|PDHA1_uc010nfk.2_3'UTR|PDHA1_uc010nfl.2_3'UTR|MAP3K15_uc004czi.1_Silent_p.R183R NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1249 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CTCCTTGCAGCCGCAACCAGT 0.413 NA 39 143 1.34996e-11 2.05448e-11 0.009718 1 0 ZNF645 158506 broad.mit.edu 37 X 22292161 22292161 + Silent SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:22292161T>A uc004dai.1 + 1 1102 c.1053T>A c.(1051-1053)TCT>TCA p.S351S NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 351 intracellular zinc ion binding lung(1)|pancreas(1) 2 GTAATCCATCTGCAAGTGAAT 0.408 NA 26 63 0 0 0.004656 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237051 30237051 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:30237051G>T uc004dbz.2 + 2 457 c.354G>T c.(352-354)TTG>TTT p.L118F NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 118 MAGE. protein binding ovary(1) 1 CAGGGTCGTTGGTGCAGTTCC 0.463 NA 3 19 0.004672 0.00507871 0.004672 1 0 MAGEB1 4112 broad.mit.edu 37 X 30268940 30268940 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:30268940G>T uc004dcc.2 + 4 650 c.330G>T c.(328-330)TGG>TGT p.W110C MAGEB1_uc004dcd.2_Missense_Mutation_p.W110C|MAGEB1_uc004dce.2_Missense_Mutation_p.W110C NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 110 MAGE. 0 CTGTAGCCTGGGAGGCAGGAA 0.463 NA 8 23 1.06961e-07 1.45911e-07 0.00308 1 0 NR0B1 190 broad.mit.edu 37 X 30326434 30326434 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:30326434G>T uc004dcf.3 - 1 1062 c.1047C>A c.(1045-1047)GCC>GCA p.A349A NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 349 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) GCACCTTCCTGGCCTCCGCCG 0.627 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 2.0095e-06 2.59582e-06 0.001984 1 0 DMD 1756 broad.mit.edu 37 X 31200972 31200972 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:31200972C>T uc004dda.1 - 68 10101 c.9857G>A c.(9856-9858)AGA>AAA p.R3286K DMD_uc004dcq.1_Missense_Mutation_p.R557K|DMD_uc004dcr.1_Missense_Mutation_p.R826K|DMD_uc004dcs.1_Missense_Mutation_p.R826K|DMD_uc004dct.1_Missense_Mutation_p.R826K|DMD_uc004dcu.1_Missense_Mutation_p.R826K|DMD_uc004dcv.1_Missense_Mutation_p.R826K|DMD_uc004dcw.2_Missense_Mutation_p.R1942K|DMD_uc004dcx.2_Missense_Mutation_p.R1945K|DMD_uc004dcz.2_Missense_Mutation_p.R3163K|DMD_uc004dcy.1_Missense_Mutation_p.R3282K|DMD_uc004ddb.1_Missense_Mutation_p.R3278K|DMD_uc004dcm.1_Missense_Mutation_p.R218K|DMD_uc004dcn.1_Missense_Mutation_p.R218K|DMD_uc004dco.1_Missense_Mutation_p.R218K|DMD_uc004dcp.1_Missense_Mutation_p.R218K|DMD_uc011mkb.1_Missense_Mutation_p.R218K|DMD_uc010ngm.2_Missense_Mutation_p.R218K NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3286 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGGTTCCAGTCTCATCCAGTC 0.522 NA 22 39 0 0 0.012319 0 0 DMD 1756 broad.mit.edu 37 X 32305735 32305735 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:32305735C>A uc004dda.1 - 43 6445 c.6201G>T c.(6199-6201)ACG>ACT p.T2067T DMD_uc004dcw.2_Silent_p.T723T|DMD_uc004dcx.2_Silent_p.T726T|DMD_uc004dcz.2_Silent_p.T1944T|DMD_uc004dcy.1_Silent_p.T2063T|DMD_uc004ddb.1_Silent_p.T2059T|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2067 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTTCCACAGGCGTTGCACTTT 0.398 NA 26 50 2.50493e-22 4.5861e-22 0.004656 1 0 DMD 1756 broad.mit.edu 37 X 32407765 32407765 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:32407765C>T uc004dda.1 - 32 4615 c.4371G>A c.(4369-4371)AAG>AAA p.K1457K DMD_uc004dcw.2_Silent_p.K113K|DMD_uc004dcx.2_Silent_p.K116K|DMD_uc004dcz.2_Silent_p.K1334K|DMD_uc004dcy.1_Silent_p.K1453K|DMD_uc004ddb.1_Silent_p.K1449K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1457 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATAATCGAAACTTCATGGAGA 0.343 NA 12 94 0 0 0.003163 0 0 FAM47B 170062 broad.mit.edu 37 X 34962613 34962613 + Silent SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:34962613T>A uc004ddi.1 + 1 1683 c.1665T>A c.(1663-1665)CCT>CCA p.P555P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 555 ovary(3)|breast(1) 4 ACTTCGAGCCTAAGTTGGGGA 0.493 NA 46 51 0 0 0.013114 0 0 CXorf59 286464 broad.mit.edu 37 X 36122645 36122645 + Nonsense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:36122645C>A uc004ddk.1 + 8 1068 c.882C>A c.(880-882)TAC>TAA p.Y294* NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 294 integral to membrane central_nervous_system(1) 1 TAGTGCCATACTGCAGCAATA 0.343 NA 34 92 1.60099e-16 2.67014e-16 0.004878 1 0 CHST7 56548 broad.mit.edu 37 X 46433945 46433945 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:46433945C>A uc004dgt.2 + 1 754 c.579C>A c.(577-579)TTC>TTA p.F193L NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 193 Lumenal (Potential). chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3) 3 CCGCCCTCTTCCGCTGGCGGA 0.562 NA 4 7 0.00024832 0.000285217 0.009096 1 0 SSX6 280657 broad.mit.edu 37 X 47976475 47976475 + Missense_Mutation SNP A A C rs17327911 TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:47976475A>C uc004dix.1 + 6 534 c.412A>C c.(412-414)AAG>CAG p.K138Q NM_173357 NP_775493 SubName: Full=Putative uncharacterized protein SSX1; 0 CGATGGGAAAAAGCTGTGCCC 0.507 NA 21 154 0 0 0.014323 0 0 APEX2 27301 broad.mit.edu 37 X 55033653 55033653 + Nonsense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:55033653G>T uc004dtz.2 + 6 1418 c.1342G>T c.(1342-1344)GAG>TAG p.E448* APEX2_uc011mom.1_Nonsense_Mutation_p.E277* NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 448 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 AGCCAAAGATGAGAAGGAGTT 0.587 NA Other_BER_factors 7 33 0.00307968 0.00339322 0.00308 1 0 SPIN3 169981 broad.mit.edu 37 X 57021331 57021331 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:57021331C>T uc010nkj.2 - 2 336 c.50G>A c.(49-51)GGC>GAC p.G17D SPIN3_uc004duu.3_RNA|SPIN3_uc004duw.3_RNA|SPIN3_uc004duv.3_RNA|SPIN3_uc004dux.1_Missense_Mutation_p.G17D NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 17 gamete generation ovary(1)|central_nervous_system(1) 2 GTGGCCAGCGCCCGTCCTGGA 0.587 NA 9 29 0 0 0.004482 0 0 ATRX 546 broad.mit.edu 37 X 76920220 76920220 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:76920220G>T uc004ecp.3 - 11 4089 c.3857C>A c.(3856-3858)TCT>TAT p.S1286Y ATRX_uc004ecq.3_Missense_Mutation_p.S1248Y|ATRX_uc004eco.3_Missense_Mutation_p.S1071Y|ATRX_uc004ecr.2_Missense_Mutation_p.S1218Y NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1286 S -> P (in Ref. 4; BAD92165). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ATCCTCATCAGAGGAAAGATT 0.373 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 18 84 9.16793e-09 1.27565e-08 0.00499 1 0 MAGT1 84061 broad.mit.edu 37 X 77112246 77112246 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:77112246C>A uc004fof.2 - 5 814 c.752G>T c.(751-753)TGG>TTG p.W251L MAGT1_uc004fog.3_Intron NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 219 Helical; (Potential). protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 TGCAAAAGCCCATCCAGTTTT 0.328 NA 24 85 6.32553e-13 9.90525e-13 0.004656 1 0 ATP7A 538 broad.mit.edu 37 X 77275806 77275806 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:77275806G>T uc004ecx.3 + 13 2852 c.2692G>T c.(2692-2694)GGG>TGG p.G898W NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 898 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TAACCAGAACGGGTCACTGCT 0.448 NA 13 81 9.31168e-06 1.16277e-05 0.001855 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912628 77912628 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:77912628G>T uc004edc.1 - 2 1586 c.1290C>A c.(1288-1290)CAC>CAA p.H430Q NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 430 nucleic acid binding|zinc ion binding ovary(1) 1 CTTCACTGATGTGTGGGCAGT 0.517 NA 18 54 5.35267e-07 7.14178e-07 0.007413 1 0 P2RY10 27334 broad.mit.edu 37 X 78216521 78216521 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:78216521C>A uc004ede.2 + 4 873 c.504C>A c.(502-504)CCC>CCA p.P168P P2RY10_uc004edf.2_Silent_p.P168P NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 168 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 TGCCATTTCCCATCCTGAGAA 0.502 NA 24 29 1.9806e-07 2.68677e-07 0.014323 1 0 BTK 695 broad.mit.edu 37 X 100615743 100615743 + Missense_Mutation SNP T T C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:100615743T>C uc004ehg.2 - 8 782 c.589A>G c.(589-591)ATC>GTC p.I197V BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Missense_Mutation_p.I197V|BTK_uc010nno.2_Missense_Mutation_p.I231V|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.I197V NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 197 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TTTTTCAAGATCTATGTAGTT 0.473 NA Agammaglobulinemia_X-linked 28 38 0 0 0.004656 0 0 BTK 695 broad.mit.edu 37 X 100617635 100617635 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:100617635C>G uc004ehg.2 - 6 627 c.434G>C c.(433-435)TGC>TCC p.C145S BTK_uc010nnn.2_Missense_Mutation_p.C145S|BTK_uc010nno.2_Missense_Mutation_p.C179S|BTK_uc004ehi.2_Missense_Mutation_p.C145S NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 145 Btk-type. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GATCCAGAAGCAAGGGTGATA 0.458 NA Agammaglobulinemia_X-linked 23 126 0 0 0.005443 0 0 BTK 695 broad.mit.edu 37 X 100630266 100630266 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:100630266C>A uc004ehg.2 - 2 200 c.7G>T c.(7-9)GCA>TCA p.A3S BTK_uc010nnn.2_Missense_Mutation_p.A3S|BTK_uc010nno.2_Missense_Mutation_p.A37S|BTK_uc004ehi.2_Missense_Mutation_p.A3S NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 3 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 AGAATCACTGCGGCCATAGCT 0.468 NA Agammaglobulinemia_X-linked 15 125 3.41278e-10 5.06715e-10 0.00499 1 0 NXF2B 728343 broad.mit.edu 37 X 101576802 101576802 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:101576802C>A uc004eiv.3 + 27 3170 c.1298C>A c.(1297-1299)GCC>GAC p.A433D NXF2B_uc004eiu.3_Missense_Mutation_p.A433D|NXF2B_uc004eiw.3_Missense_Mutation_p.A345D|NXF2_uc004eix.3_Missense_Mutation_p.A433D NM_001099686 NP_001093156 Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2B 433 NTF2. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding ovary(1) 1 AAGGACTCAGCCCCGTGAGTA 0.597 NA 6 89 0.00448238 0.00491649 0.004482 1 0 TSC22D3 1831 broad.mit.edu 37 X 107018416 107018416 + Silent SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:107018416C>A uc004enh.2 - 1 602 c.234G>T c.(232-234)CTG>CTT p.L78L TSC22D3_uc004eni.2_Silent_p.L78L|TSC22D3_uc004enj.2_Silent_p.L78L NM_198057 NP_932174 Q99576 T22D3_HUMAN TSC22 domain family, member 3 isoform 1 Error:Variant_position_missing_in_Q99576_after_alignment sequence-specific DNA binding transcription factor activity 0 AGGGGTCCCGCAGCACCGGCT 0.567 NA 11 53 4.3838e-07 5.86514e-07 0.001855 1 0 ZCCHC16 340595 broad.mit.edu 37 X 111698402 111698402 + Missense_Mutation SNP A A T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:111698402A>T uc004epo.1 + 3 887 c.446A>T c.(445-447)AAT>ATT p.N149I NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 149 nucleic acid binding|zinc ion binding ovary(1) 1 CCTCTGATGAATGCTAAGTTT 0.423 NA 16 103 0 0 0.006122 0 0 WDR44 54521 broad.mit.edu 37 X 117526694 117526694 + Missense_Mutation SNP A A C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:117526694A>C uc004eqn.2 + 4 711 c.286A>C c.(286-288)AGT>CGT p.S96R WDR44_uc004eqo.2_Missense_Mutation_p.S96R|WDR44_uc011mtr.1_Missense_Mutation_p.S71R|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 96 Binding activity. S -> G (in Ref. 2; CAL38210). cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AGCTACTGCCAGTCCTATTGT 0.413 NA 18 97 0 0 0.010504 0 0 LAMP2 3920 broad.mit.edu 37 X 119576490 119576490 + Missense_Mutation SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:119576490C>G uc004est.3 - 7 1072 c.892G>C c.(892-894)GAA>CAA p.E298Q LAMP2_uc004ess.3_Missense_Mutation_p.E298Q|LAMP2_uc011mtz.1_Missense_Mutation_p.E187Q|LAMP2_uc011mua.1_Missense_Mutation_p.E251Q|LAMP2_uc010nqp.1_Missense_Mutation_p.E298Q NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 298 Lumenal (Potential).|Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 ATGTTCACTTCCTTCAGATAA 0.373 NA 52 305 0 0 0.01441 0 0 GRIA3 2892 broad.mit.edu 37 X 122616858 122616858 + Missense_Mutation SNP G G A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:122616858G>A uc004etq.3 + 16 2941 c.2648G>A c.(2647-2649)GGC>GAC p.G883D GRIA3_uc004etr.3_Missense_Mutation_p.G883D|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 883 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TACAGAGAAGGCTACAACGTG 0.413 NA 15 104 0 0 0.004007 0 0 ODZ1 10178 broad.mit.edu 37 X 123556416 123556416 + Missense_Mutation SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:123556416T>A uc004euj.2 - 23 4220 c.4156A>T c.(4156-4158)ATT>TTT p.I1386F ODZ1_uc011muj.1_Missense_Mutation_p.I1392F|ODZ1_uc010nqy.2_Missense_Mutation_p.I1393F NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1386 NHL 3.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGCAGCACAATGTTGTTATCC 0.473 NA 15 102 0 0 0.00245 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128890490 128890490 + Silent SNP C C G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:128890490C>G uc004eut.1 + 14 1570 c.1326C>G c.(1324-1326)TCC>TCG p.S442S NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 442 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GCAAGCTGTCCTCAGATGAGA 0.602 NA 6 37 0 0 0.001168 0 0 AIFM1 9131 broad.mit.edu 37 X 129290567 129290567 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:129290567G>T uc004evg.2 - 2 295 c.117C>A c.(115-117)TTC>TTA p.F39L AIFM1_uc011mus.1_Missense_Mutation_p.F39L|AIFM1_uc004evh.2_Intron|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_Intron NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 39 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 GCCATCGCTGGAACAAGTTGC 0.358 NA 35 200 1.04594e-18 1.83889e-18 0.00623 1 0 FAM45B 55855 broad.mit.edu 37 X 129629173 129629173 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:129629173G>T uc010nrh.2 + 1 259 c.41G>T c.(40-42)GGA>GTA p.G14V uc004evu.2_RNA NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) CTGATGCTTGGAGTCGGGCTG 0.542 NA 18 19 3.52763e-06 4.49727e-06 0.00499 1 0 OR13H1 347468 broad.mit.edu 37 X 130678918 130678918 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:130678918C>A uc011muw.1 + 1 871 c.871C>A c.(871-873)CTG>ATG p.L291M IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) GATATATAGCCTGAGAAAAAA 0.398 NA 45 100 4.18559e-23 7.692e-23 0.01441 1 0 GPC3 2719 broad.mit.edu 37 X 132887866 132887866 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:132887866G>T uc004exe.1 - 3 865 c.675C>A c.(673-675)GTC>GTA p.V225V GPC3_uc004exd.1_Silent_p.V97V|GPC3_uc010nrn.1_Silent_p.V225V|GPC3_uc011mvh.1_Silent_p.V209V|GPC3_uc010nro.1_Silent_p.V171V|GPC3_uc010nrp.1_Silent_p.V97V NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 225 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGATCCTAGTGACTTGCAGTG 0.463 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 18 95 4.96729e-08 6.83353e-08 0.008871 1 0 FAM122C 159091 broad.mit.edu 37 X 133988158 133988158 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:133988158G>T uc004exz.1 + 7 885 c.480G>T c.(478-480)ATG>ATT p.M160I FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_3'UTR NM_138819 NP_620174 Q6P4D5 F222C_HUMAN hypothetical protein LOC159091 160 0 Acute lymphoblastic leukemia(192;0.000127) CGACAGCAATGCTGGATCTTC 0.418 NA 19 92 1.33834e-09 1.92263e-09 0.007413 1 0 GPR112 139378 broad.mit.edu 37 X 135431279 135431279 + Missense_Mutation SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:135431279C>T uc004ezu.1 + 6 5705 c.5414C>T c.(5413-5415)ACT>ATT p.T1805I GPR112_uc010nsb.1_Missense_Mutation_p.T1600I|GPR112_uc010nsc.1_Missense_Mutation_p.T1572I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1805 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTAGAAAAGACTTCCTTAACA 0.383 NA 35 88 0 0 0.013726 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596980 142596980 + Silent SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:142596980T>A uc004fbw.2 - 2 178 c.90A>T c.(88-90)GTA>GTT p.V30V NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 30 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGTTTGGTACCTCTTGCA 0.393 NA 11 87 0 0 0.010729 0 0 CCKBR 887 broad.mit.edu 37 11 6291420 6291420 + Frame_Shift_Del DEL C C - TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr11:6291420delC uc001mcp.2 + 3 699 c.506delC c.(505-507)TCCfs p.S169fs CCKBR_uc001mcq.2_Frame_Shift_Del_p.S97fs|CCKBR_uc001mcr.2_Frame_Shift_Del_p.S169fs|CCKBR_uc001mcs.2_Frame_Shift_Del_p.S169fs NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 169 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CAGACGCGCTCCCACGCGGCT 0.642 NA 11 16 --- --- --- --- NA NA NA NA NA RNF219 79596 broad.mit.edu 37 13 79190706 79190707 + Frame_Shift_Ins INS - - A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr13:79190706_79190707insA uc001vkw.1 - 6 1248_1249 c.1189_1190insT c.(1189-1191)TGCfs p.C397fs uc001vku.1_RNA|RNF219_uc010afb.1_Frame_Shift_Ins_p.C207fs|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 397 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GAGCTGAAGGCAACTAAGGGAC 0.426 NA 22 125 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579481 7579482 + Frame_Shift_Ins INS - - C TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr17:7579481_7579482insC uc002gim.2 - 4 399_400 c.205_206insG c.(205-207)GCTfs p.A69fs TP53_uc002gig.1_Frame_Shift_Ins_p.A69fs|TP53_uc002gih.2_Frame_Shift_Ins_p.A69fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.A69fs|TP53_uc010cni.1_Frame_Shift_Ins_p.A69fs|TP53_uc002gij.2_Frame_Shift_Ins_p.A69fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.A30fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.A84fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 69 Interaction with WWOX.|Interaction with HRMT1L2. A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.G59fs*23(3)|p.A69G(3)|p.A69fs*54(1)|p.E68fs*76(1)|p.A69fs*79(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A69V(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGGAGCAGCCTCTGGCATT 0.609 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 102 86 --- --- --- --- NA NA NA NA NA MANBA 4126 broad.mit.edu 37 4 103644031 103644031 + Frame_Shift_Del DEL C C - TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr4:103644031delC uc003hwg.2 - 4 646 c.546delG c.(544-546)CGGfs p.R182fs MANBA_uc011ces.1_Intron NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 182 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CCATTACCTTCCGAACAAAGT 0.488 NA 14 37 --- --- --- --- NA NA NA NA NA OR13C4 138804 broad.mit.edu 37 9 107288787 107288787 + Frame_Shift_Del DEL T T - TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chr9:107288787delT uc011lvn.1 - 1 704 c.704delA c.(703-705)CACfs p.H235fs NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAATGCCTTGTGTCTTCCTGT 0.423 NA 42 66 --- --- --- --- NA NA NA NA NA CYBB 1536 broad.mit.edu 37 X 37664382 37664382 + Frame_Shift_Del DEL C C - TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:37664382delC uc004ddr.2 + 10 1336 c.1275delC c.(1273-1275)TACfs p.Y425fs CYBB_uc011mkf.1_Frame_Shift_Del_p.Y393fs|CYBB_uc011mkg.1_Frame_Shift_Del_p.Y158fs NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 425 Cytoplasmic (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CAGTCTGGTACAAATATTGCA 0.483 NA 13 33 --- --- --- --- NA NA NA NA NA STARD8 9754 broad.mit.edu 37 X 67937113 67937113 + Frame_Shift_Del DEL G G - TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8c9abbe-b112-4019-a6a3-f582df1379ed 766b14bf-ca3c-429d-83f0-b01190caceb3 g.chrX:67937113delG uc004dxa.2 + 5 489 c.117delG c.(115-117)CAGfs p.Q39fs STARD8_uc004dxb.2_Frame_Shift_Del_p.Q119fs|STARD8_uc004dxc.3_Frame_Shift_Del_p.Q39fs NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 39 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CCTTCCAGCAGGAAAGTAAGT 0.587 NA 7 7 --- --- --- --- NA NA NA NA NA