Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PPIH 10465 broad.mit.edu 37 1 43124905 43124905 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:43124905C>G uc001chq.2 + 3 208 c.138C>G c.(136-138)TTC>TTG p.F46L PPIH_uc009vwl.2_5'UTR NM_006347 NP_006338 O43447 PPIH_HUMAN peptidylprolyl isomerase H 46 PPIase cyclophilin-type. protein complex assembly|protein folding cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) L-Proline(DB00172) TCAGGCAGTTCTGCACCGGAG 0.483 NA 30 120 0 0 0 0 GPSM2 29899 broad.mit.edu 37 1 109465042 109465042 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:109465042A>G uc010ovc.1 + 13 1940 c.1444A>G c.(1444-1446)ATC>GTC p.I482V AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.I482V|GPSM2_uc010ove.1_Missense_Mutation_p.I482V NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 482 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) ATTTTAGAAAATCAGTGCAGA 0.318 NA 16 19 0 0 0 0 KPRP 448834 broad.mit.edu 37 1 152732431 152732431 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:152732431G>A uc001fal.1 + 2 425 c.367G>A c.(367-369)GAA>AAA p.E123K NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 123 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGCAGTGCGAAGCGTCACA 0.493 NA 57 116 0 0 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174671345 174671345 + Missense_Mutation SNP A A T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:174671345A>T uc001gjx.2 + 17 2315 c.2120A>T c.(2119-2121)AAG>ATG p.K707M RABGAP1L_uc001gkb.3_Translation_Start_Site|RABGAP1L_uc001gkc.3_Missense_Mutation_p.K14M|RABGAP1L_uc001gkd.3_Missense_Mutation_p.K33M NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 707 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 TTTACTGCCAAGTTCCCACTC 0.428 NA 7 52 0 0 0 0 C1orf14 81626 broad.mit.edu 37 1 182909570 182909570 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:182909570C>T uc001gpu.2 - 3 949 c.664G>A c.(664-666)GAG>AAG p.E222K C1orf14_uc001gpv.2_Missense_Mutation_p.E103K|C1orf14_uc010pnz.1_Missense_Mutation_p.E80K|C1orf14_uc001gpw.2_5'UTR NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 294 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) TCCAAAATCTCATCAACCAAA 0.403 NA 10 76 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248224417 248224417 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr1:248224417C>T uc001idx.1 + 1 434 c.434C>T c.(433-435)ACA>ATA p.T145I OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGATGATAACAGGGTCTTGG 0.423 NA 11 124 0 0 0 0 C10orf67 256815 broad.mit.edu 37 10 23633575 23633575 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:23633575G>T uc010qcx.1 - 1 198 c.132C>A c.(130-132)ACC>ACA p.T44T NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN hypothetical protein LOC256815 44 0 CCCGCAGCTCGGTGGCCTTGG 0.597 NA 3 5 0.004672 0.00939451 1 0 SGPL1 8879 broad.mit.edu 37 10 72636950 72636950 + Splice_Site SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:72636950A>G uc001jrm.2 + 15 1789 c.1567_splice c.e15-2 p.G523_splice SGPL1_uc009xqk.2_Splice_Site NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) TTGGATTTGTAGGGTGCCATC 0.483 NA 3 29 0 0 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407893 75407893 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr10:75407893G>A uc001jut.3 - 4 1669 c.1517C>T c.(1516-1518)CCA>CTA p.P506L SYNPO2L_uc001jus.3_Missense_Mutation_p.P282L NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 506 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) GAAGGGGGGTGGGGCGGGGCT 0.677 NA 3 8 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1270883 1270883 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:1270883C>G uc009ycr.1 + 51 14318 c.14192C>G c.(14191-14193)ACT>AGT p.T4731S MUC5B_uc001ltb.2_Missense_Mutation_p.T4261S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4258 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAACAGCCACTACGACTGCA 0.677 NA 4 63 0 0 0 0 CALCB 797 broad.mit.edu 37 11 15098881 15098881 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:15098881C>T uc001mlx.1 + 4 347 c.274C>T c.(274-276)CGG>TGG p.R92W CALCB_uc009ygr.1_Missense_Mutation_p.R92W NM_000728 NP_000719 P10092 CALCB_HUMAN calcitonin-related polypeptide, beta precursor 92 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity 0 TGTGACTCATCGGCTGGCAGG 0.567 NA 6 11 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136993 40136993 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:40136993G>A uc001mxa.1 - 2 2814 c.850C>T c.(850-852)CAT>TAT p.H284Y LRRC4C_uc001mxc.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H280Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H280Y NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 284 LRR 9. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGAGGTCATGAGGCAGTAAT 0.443 NA 37 58 0 0 0 0 RAPSN 5913 broad.mit.edu 37 11 47464319 47464319 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:47464319G>C uc001nfi.1 - 3 793 c.579C>G c.(577-579)GTC>GTG p.V193V RAPSN_uc001nfj.1_Silent_p.V193V|RAPSN_uc009yls.1_Silent_p.V193V NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 193 TPR 4. synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 CATAGTTGTTGACAAGCTCTG 0.612 NA 13 26 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121384941 121384941 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr11:121384941C>T uc001pxx.2 + 8 1202 c.1122C>T c.(1120-1122)ATC>ATT p.I374I NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 374 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATTTATACATCTCAGAGGCAG 0.507 NA 6 75 0 0 0 0 GAPDH 2597 broad.mit.edu 37 12 6646508 6646508 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:6646508C>T uc001qop.1 + 7 579 c.477C>T c.(475-477)CCC>CCT p.P159P GAPDH_uc009zep.1_Silent_p.P117P|GAPDH_uc001qoq.1_Silent_p.P84P|GAPDH_uc001qor.1_Silent_p.P118P|GAPDH_uc001qos.1_Silent_p.P159P|GAPDH_uc001qot.1_Silent_p.P159P|GAPDH_uc001qou.1_Silent_p.P118P|GAPDH_uc001qov.1_Silent_p.P117P|GAPDH_uc001qow.1_Silent_p.P112P|GAPDH_uc001qox.1_5'UTR NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 159 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) GCTTAGCACCCCTGGCCAAGG 0.577 NA 15 39 0 0 0 0 SOAT2 8435 broad.mit.edu 37 12 53516948 53516948 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:53516948C>T uc001sbv.2 + 13 1408 c.1320C>T c.(1318-1320)TTC>TTT p.F440F SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 440 Helical; (Potential). cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 TCTTCTGCTTCGTCCTGGGGT 0.592 NA 14 37 0 0 0 0 RDH16 8608 broad.mit.edu 37 12 57351084 57351084 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr12:57351084G>T uc001smi.3 - 1 335 c.163C>A c.(163-165)CGG>AGG p.R55R RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_RNA NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 55 NAD (By similarity).|Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 GCCAGCACCCGCAAGCCTCGT 0.587 NA 10 33 1.09e-07 2.31e-07 1 0 NHLRC3 387921 broad.mit.edu 37 13 39618272 39618272 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr13:39618272C>G uc001uxc.2 + 5 954 c.632C>G c.(631-633)GCT>GGT p.A211G NHLRC3_uc001uxb.1_Missense_Mutation_p.A211G|NHLRC3_uc001uxd.2_Missense_Mutation_p.A144G|NHLRC3_uc001uxe.2_Missense_Mutation_p.A14G NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 211 NHL 3. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ACAGGGCCTGCTAAGTTCAAC 0.383 NA 69 80 0 0 0 0 OR4K17 390436 broad.mit.edu 37 14 20585923 20585923 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:20585923C>G uc001vwo.1 + 1 358 c.358C>G c.(358-360)CAG>GAG p.Q120E NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTTAAAAAAGCAGAAGGTAAT 0.413 NA 45 78 0 0 0 0 OR11H6 122748 broad.mit.edu 37 14 20692287 20692287 + Missense_Mutation SNP G G A rs146448571 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:20692287G>A uc010tlc.1 + 1 419 c.419G>A c.(418-420)CGG>CAG p.R140Q NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 140 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GCTTATGATCGGTACCTGGCC 0.428 NA 10 81 0 0 0 0 SPATA7 55812 broad.mit.edu 37 14 88892892 88892892 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:88892892C>G uc001xwq.2 + 6 840 c.689C>G c.(688-690)TCT>TGT p.S230C SPATA7_uc001xwr.2_Missense_Mutation_p.S198C|SPATA7_uc001xws.2_Missense_Mutation_p.S166C|SPATA7_uc001xwt.2_Missense_Mutation_p.S124C|SPATA7_uc001xwu.2_5'Flank NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 230 response to stimulus|visual perception ovary(1) 1 GATAAACATTCTGAACTCTTT 0.428 NA 15 51 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102502847 102502847 + Silent SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr14:102502847C>A uc001yks.2 + 57 10940 c.10776C>A c.(10774-10776)CCC>CCA p.P3592P NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3592 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCATTGACCCCTCTGGACAGG 0.488 NA 13 67 0.00185496 0.00375024 1 0 BTBD1 53339 broad.mit.edu 37 15 83710628 83710628 + Silent SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr15:83710628A>G uc002bjn.2 - 4 917 c.714T>C c.(712-714)AGT>AGC p.S238S BTBD1_uc002bjo.2_Silent_p.S238S NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 238 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) CAAAAAGTCGACTTTCTCGAA 0.373 NA 18 39 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801106 24801106 + Silent SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr16:24801106A>G uc002dmm.2 + 6 1257 c.1143A>G c.(1141-1143)AAA>AAG p.K381K TNRC6A_uc010bxs.2_Silent_p.K128K|TNRC6A_uc010vcc.1_Silent_p.K128K|TNRC6A_uc002dmn.2_Silent_p.K128K|TNRC6A_uc002dmo.2_Silent_p.K128K NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 381 Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TTGCCCTAAAAGGGCCTGTAG 0.428 NA 3 57 0 0 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500299 31500299 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr16:31500299C>G uc002ecf.3 + 11 1398 c.1379C>G c.(1378-1380)TCT>TGT p.S460C SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 460 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 CAGGCAGTCTCTAGCTACCTG 0.662 NA 10 18 0 0 0 0 TMEM188 255919 broad.mit.edu 37 16 50063658 50063658 + Silent SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr16:50063658C>G uc002efu.2 + 3 158 c.120C>G c.(118-120)GTC>GTG p.V40V TMEM188_uc002eft.2_Silent_p.V57V|TMEM188_uc002efv.2_Intron Q8N9A8 TM188_HUMAN SubName: Full=TMP125; SubName: Full=Putative uncharacterized protein FLJ38101; 40 Helical; (Potential). integral to membrane 0 TGGTATCTGTCTGTACAGCTA 0.338 NA 3 35 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578549 7578550 + Missense_Mutation DNP GG GG AA TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:7578549_7578550GG>AA uc002gim.2 - 5 574_575 c.380_381CC>TT c.(379-381)TCC>TTT p.S127F TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.2_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 127 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(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) TGAGGGCAGGGGAGTACTGTAG 0.554 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 11 0 0 0 0 RARA 5914 broad.mit.edu 37 17 38508322 38508322 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:38508322G>A uc002huk.1 + 5 1085 c.630G>A c.(628-630)ACG>ACA p.T210T RARA_uc002hul.3_Silent_p.T210T|RARA_uc010wfe.1_Silent_p.T113T|RARA_uc002hun.1_Silent_p.T205T NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 210 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AATACACTACGGTATGGCTTT 0.632 NA T PML|ZNF145|TIF1|NUMA1|NPM1 APL 4 4 0 0 0 0 EPX 8288 broad.mit.edu 37 17 56280505 56280505 + Missense_Mutation SNP G G A rs149971221 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:56280505G>A uc002ivq.2 + 11 1858 c.1772G>A c.(1771-1773)CGG>CAG p.R591Q NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 591 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 CAGCTTAGCCGGGTGCTGAAA 0.542 NA 49 50 0 0 0 0 ABCA9 10350 broad.mit.edu 37 17 67020425 67020425 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr17:67020425G>T uc002jhu.2 - 17 2354 c.2211C>A c.(2209-2211)GCC>GCA p.A737A ABCA9_uc010dez.2_Silent_p.A737A NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 737 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CTGTCAATTTGGCATCAGAGA 0.323 NA 6 15 0.00116845 0.00238825 1 0 MC2R 4158 broad.mit.edu 37 18 13885087 13885087 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr18:13885087A>G uc002ksp.1 - 2 608 c.431T>C c.(430-432)ATG>ACG p.M144T NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 144 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AGTGCGGCGCATGGTCACGAT 0.582 NA 20 21 0 0 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000485 73000485 + Silent SNP C C T rs147097201 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr18:73000485C>T uc002lly.2 + 2 3551 c.2988C>T c.(2986-2988)CTC>CTT p.L996L NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 1041 C2H2-type 5. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AATGTAAGCTCTGCAACCGGA 0.527 NA 20 39 0 0 0 0 ASNA1 439 broad.mit.edu 37 19 12856229 12856229 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:12856229C>T uc002muv.2 + 3 362 c.348C>T c.(346-348)GAC>GAT p.D116D ASNA1_uc002muw.2_Silent_p.D115D NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 116 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) AGCTGCCTGACGAGTTCTTCG 0.612 NA 8 20 0 0 0 0 NCAN 1463 broad.mit.edu 37 19 19338829 19338829 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:19338829G>C uc002nlz.2 + 8 2499 c.2400G>C c.(2398-2400)GGG>GGC p.G800G NCAN_uc010ecc.1_Silent_p.G364G NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 800 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CCCCCCTGGGGAGCCCTGGAG 0.567 NA 11 136 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54395868 54395868 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr19:54395868G>A uc002qcq.1 + 7 1074 c.792G>A c.(790-792)TCG>TCA p.S264S PRKCG_uc010eqz.1_Silent_p.S264S|PRKCG_uc010yef.1_Silent_p.S264S|PRKCG_uc010yeg.1_Silent_p.S264S|PRKCG_uc010yeh.1_Silent_p.S151S NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 264 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TTGGCGTCTCGGAGCTGCTCA 0.642 NA 7 9 0 0 0 0 ROCK2 9475 broad.mit.edu 37 2 11347878 11347878 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:11347878C>T uc002rbd.1 - 20 2972 c.2523G>A c.(2521-2523)TTG>TTA p.L841L NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 841 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTGTTTTTCCAAGTTCATTT 0.303 NA 5 27 0 0 0 0 FAM49A 81553 broad.mit.edu 37 2 16734259 16734259 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:16734259G>C uc010exm.1 - 11 1065 c.917C>G c.(916-918)ACA>AGA p.T306R FAM49A_uc002rck.1_Missense_Mutation_p.T306R NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 306 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CAAGTGCTTTGTAGTGAACCT 0.438 NA 8 44 0 0 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37347201 37347201 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:37347201G>A uc010ynh.1 - 13 1706 c.1149C>T c.(1147-1149)GGC>GGT p.G383G EIF2AK2_uc010fab.1_Silent_p.G342G|EIF2AK2_uc010yng.1_Silent_p.G383G|EIF2AK2_uc010fac.2_Silent_p.G383G|EIF2AK2_uc010fad.2_Silent_p.G330G NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 383 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) CTAGTTTCTCGCCTCTTCTTT 0.343 NA 7 33 0 0 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204310 44204310 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:44204310T>C uc002rtr.2 - 4 633 c.575A>G c.(574-576)AAC>AGC p.N192S LRPPRC_uc010yob.1_Missense_Mutation_p.N92S|LRPPRC_uc010faw.1_Missense_Mutation_p.N166S NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 192 PPR 2. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGGTTGAATGTTTGCTTCCTC 0.289 NA 25 29 0 0 0 0 MRPL53 116540 broad.mit.edu 37 2 74699750 74699750 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:74699750A>G uc002sln.2 - 1 178 c.38T>C c.(37-39)GTC>GCC p.V13A CCDC142_uc002slo.2_RNA NM_053050 NP_444278 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 precursor 13 mitochondrion|ribosome 0 AACCTGTTTGACAGGCCGCAG 0.592 NA 6 56 0 0 0 0 AUP1 550 broad.mit.edu 37 2 74754072 74754072 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:74754072T>C uc010yrx.1 - 10 1489 c.1363A>G c.(1363-1365)AGA>GGA p.R455G DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.R131G|AUP1_uc002smf.2_Missense_Mutation_p.R398G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.R307G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 464 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 CCTCACCTTCTTGCGTATTCA 0.507 NA 32 55 0 0 0 0 POLR1A 25885 broad.mit.edu 37 2 86255166 86255166 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:86255166G>A uc002sqs.2 - 33 5283 c.4904C>T c.(4903-4905)GCG>GTG p.A1635V POLR1A_uc010ytb.1_Missense_Mutation_p.A1001V NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1635 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGGGTCGACCGCGATGCCTGT 0.542 NA 8 28 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152426612 152426612 + Missense_Mutation SNP A A C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:152426612A>C uc010fnx.2 - 81 12501 c.12310T>G c.(12310-12312)TAC>GAC p.Y4104D NEB_uc002txr.2_Missense_Mutation_p.Y527D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4104 Nebulin 112. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCAGTTCGTAGGCCTTCTTG 0.507 NA 2 9 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170099508 170099508 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr2:170099508C>T uc002ues.2 - 24 3838 c.3625G>A c.(3625-3627)GGT>AGT p.G1209S LRP2_uc010zdf.1_Missense_Mutation_p.G1072S NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1209 LDL-receptor class A 12.|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) TCAAAAACACCATCACAACGA 0.398 NA 16 106 0 0 0 0 LRRN4 164312 broad.mit.edu 37 20 6031559 6031559 + Silent SNP C C T rs149005401 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:6031559C>T uc002wmo.2 - 3 950 c.726G>A c.(724-726)ACG>ACA p.T242T LRRN4_uc002wmp.2_Silent_p.T242T NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 242 Extracellular (Potential).|LRR 8. integral to membrane skin(3) 3 CCTCCAGGGTCGTCAGCCGAG 0.552 NA 10 21 0 0 0 0 XRN2 22803 broad.mit.edu 37 20 21328869 21328869 + Missense_Mutation SNP A A C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:21328869A>C uc002wsf.1 + 18 1846 c.1751A>C c.(1750-1752)GAT>GCT p.D584A XRN2_uc002wsg.1_Missense_Mutation_p.D508A|XRN2_uc010zsk.1_Missense_Mutation_p.D530A NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 584 D -> E (in Ref. 1; AAD55138). cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 ATGCCATCTGATTTTGAGAAG 0.348 NA 5 49 0 0 0 0 HM13 81502 broad.mit.edu 37 20 30154066 30154066 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:30154066G>A uc002wwe.2 + 11 1116 c.1002G>A c.(1000-1002)GCG>GCA p.A334A HM13_uc002wwc.2_Silent_p.A334A|HM13_uc002wwd.2_Silent_p.A334A|HM13_uc002wwf.2_Silent_p.A210A|HM13_uc010gdu.2_Silent_p.A210A NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 334 Helical; (Potential). membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TCCTGGTGGCGCTGGCCAAGG 0.612 NA 10 107 0 0 0 0 NDRG3 57446 broad.mit.edu 37 20 35312834 35312834 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr20:35312834G>A uc002xfw.2 - 6 447 c.365C>T c.(364-366)CCT>CTT p.P122L NDRG3_uc002xfx.2_Missense_Mutation_p.P110L|NDRG3_uc010zvq.1_Missense_Mutation_p.P27L|NDRG3_uc010zvr.1_Missense_Mutation_p.P10L NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 122 P -> S (in Ref. 2; AAK34944). cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) GGTAAGAACAGGAGGCAGCAT 0.418 NA 7 38 0 0 0 0 CYYR1 116159 broad.mit.edu 37 21 27840862 27840862 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:27840862C>T uc002ymd.2 - 4 745 c.423G>A c.(421-423)CAG>CAA p.Q141Q CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.Q142Q NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 141 Cytoplasmic (Potential). integral to membrane 0 GTGGAGAACGCTGTGCTGGAC 0.532 NA 5 41 0 0 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380219 30380219 + Missense_Mutation SNP A A T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:30380219A>T uc002yms.2 - 4 675 c.588T>A c.(586-588)CAT>CAA p.H196Q RWDD2B_uc002ymt.2_Missense_Mutation_p.H167Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.H116Q NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 196 0 TGTTATAGATATGATGGCTGT 0.458 NA 7 59 0 0 0 0 SON 6651 broad.mit.edu 37 21 34923613 34923613 + Silent SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:34923613T>A uc002yse.1 + 3 2125 c.2076T>A c.(2074-2076)CCT>CCA p.P692P SON_uc002ysb.1_Silent_p.P692P|SON_uc002ysc.2_Silent_p.P692P|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 692 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AGGAGCTGCCTACTACATTAG 0.512 NA 16 56 0 0 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704324 47704324 + Missense_Mutation SNP T T C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr21:47704324T>C uc002zir.1 - 1 913 c.877A>G c.(877-879)AGG>GGG p.R293G C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 293 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) TCCTCCTTCCTTTTCAGTCCT 0.572 NA 31 64 0 0 0 0 HIRA 7290 broad.mit.edu 37 22 19393354 19393354 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr22:19393354C>T uc002zpf.1 - 5 572 c.352G>A c.(352-354)GTG>ATG p.V118M HIRA_uc011agx.1_Translation_Start_Site|HIRA_uc010grn.1_Missense_Mutation_p.V118M|HIRA_uc010gro.1_Missense_Mutation_p.V74M|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 118 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CACTGCTCCACATTGGCAAGC 0.602 NA 5 32 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108355484 108355484 + Missense_Mutation SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:108355484T>A uc003dxd.2 + 11 1362 c.940T>A c.(940-942)TTG>ATG p.L314M DZIP3_uc003dxf.1_Missense_Mutation_p.L314M|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.L314M|DZIP3_uc003dxg.1_Missense_Mutation_p.L37M NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 314 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GAAAAAATGTTTGAAGGAAGG 0.264 NA 8 111 0 0 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374244 138374244 + Missense_Mutation SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:138374244T>A uc011bmq.1 - 22 3200 c.3200A>T c.(3199-3201)GAC>GTC p.D1067V PIK3CB_uc011bmn.1_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1067 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AGATCTGTAGTCTTTCCGAAC 0.408 NA 37 63 0 0 0 0 TRIM42 287015 broad.mit.edu 37 3 140406956 140406956 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:140406956G>T uc003eto.1 + 3 1623 c.1432G>T c.(1432-1434)GAC>TAC p.D478Y NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 478 COS. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CGTGCCCTTGGACTTTGTTGA 0.602 NA 11 22 5.51e-06 1.14e-05 1 0 RFC1 5981 broad.mit.edu 37 4 39310409 39310409 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:39310409C>G uc003gty.1 - 13 1866 c.1732G>C c.(1732-1734)GAA>CAA p.E578Q RFC1_uc003gtx.1_Missense_Mutation_p.E578Q NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 578 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 ACTTTGTTTTCACTGCTGTCA 0.463 NA 26 131 0 0 0 0 PTPN13 5783 broad.mit.edu 37 4 87692491 87692491 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:87692491G>A uc003hpz.2 + 31 5451 c.4971G>A c.(4969-4971)GGG>GGA p.G1657G PTPN13_uc003hpy.2_Silent_p.G1662G|PTPN13_uc003hqa.2_Silent_p.G1638G|PTPN13_uc003hqb.2_Silent_p.G1466G|PTPN13_uc003hqc.1_Silent_p.G23G NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1657 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACAGCAGTGGGAGTGGAGAAG 0.453 NA 4 4 0 0 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952308 119952308 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:119952308C>G uc003icm.3 + 4 2574 c.2378C>G c.(2377-2379)CCC>CGC p.P793R SYNPO2_uc010ina.2_Missense_Mutation_p.P793R|SYNPO2_uc010inb.2_Missense_Mutation_p.P793R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P721R NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 793 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CCTGCCTTCCCCACATCCAAC 0.567 NA 4 61 0 0 0 0 FABP2 2169 broad.mit.edu 37 4 120243207 120243207 + Silent SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr4:120243207C>T uc003icw.2 - 1 110 c.51G>A c.(49-51)AAG>AAA p.K17K NM_000134 NP_000125 P12104 FABPI_HUMAN intestinal fatty acid binding protein 2 17 fatty acid binding ovary(1) 1 TTTCCATGAACTTGTCATAGT 0.393 NA 27 132 0 0 0 0 SLC6A3 6531 broad.mit.edu 37 5 1422042 1422042 + Silent SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:1422042G>C uc003jck.2 - 5 862 c.741C>G c.(739-741)GTC>GTG p.V247V NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 247 Helical; Name=4; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GCAGCACGATGACCAGCACCA 0.647 NA 7 88 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14508431 14508431 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:14508431G>C uc003jff.2 + 57 9200 c.9194G>C c.(9193-9195)AGA>ACA p.R3065T TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 3065 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) GACACGTCCAGACTGACTTCC 0.592 NA 4 67 0 0 0 0 POLK 51426 broad.mit.edu 37 5 74892047 74892047 + Missense_Mutation SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr5:74892047G>A uc003kdw.2 + 13 1625 c.1529G>A c.(1528-1530)GGT>GAT p.G510D POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.G312D|POLK_uc003kec.2_Missense_Mutation_p.G420D|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.G420D NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 510 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TTTAATTTAGGTGTTCGGATA 0.373 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 12 0 0 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826614 34826614 + Silent SNP C C T rs149495470 by1000genomes TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:34826614C>T uc003oju.3 + 14 2715 c.2481C>T c.(2479-2481)CGC>CGT p.R827R UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 827 ovary(3) 3 CCCATGTCCGCGTGAGGCTTG 0.527 NA 29 101 0 0 0 0 SOBP 55084 broad.mit.edu 37 6 107956480 107956480 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:107956480A>G uc003prx.2 + 6 2936 c.2432A>G c.(2431-2433)GAC>GGC p.D811G NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 811 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AACCCCGCGGACGAGGACCAT 0.647 NA 16 46 0 0 0 0 TCF21 6943 broad.mit.edu 37 6 134210564 134210564 + Missense_Mutation SNP A A G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:134210564A>G uc003qei.3 + 1 305 c.29A>G c.(28-30)GAG>GGG p.E10G uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E10G NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 10 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGCGATGTGGAGGACCTTCAA 0.383 NA 6 60 0 0 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30113748 30113748 + Silent SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr7:30113748G>T uc003tam.1 + 13 1453 c.1362G>T c.(1360-1362)GCG>GCT p.A454A PLEKHA8_uc003tao.2_Silent_p.A338A|PLEKHA8_uc003tap.1_Silent_p.A454A|PLEKHA8_uc003tan.2_Intron NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 454 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 GGGTTTTTGCGGTAAGTGATC 0.403 NA 10 11 0.00136819 0.00278125 1 0 AP4M1 9179 broad.mit.edu 37 7 99703604 99703604 + Nonsense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr7:99703604C>T uc003utb.3 + 12 1160 c.952C>T c.(952-954)CGA>TGA p.R318* AP4M1_uc011kjg.1_Nonsense_Mutation_p.R272*|AP4M1_uc010lgl.1_Nonsense_Mutation_p.R293*|AP4M1_uc003utc.3_Nonsense_Mutation_p.R325*|AP4M1_uc010lgm.2_Nonsense_Mutation_p.R190*|AP4M1_uc003utd.2_Nonsense_Mutation_p.R318*|AP4M1_uc011kjh.1_Nonsense_Mutation_p.R270*|AP4M1_uc003ute.3_Nonsense_Mutation_p.R93*|AP4M1_uc003utf.3_Nonsense_Mutation_p.R190* NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 318 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTAAAGTTGCGATGTGACCT 0.552 NA 10 106 0 0 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587134 42587134 + Silent SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:42587134C>G uc003xpi.1 + 5 812 c.684C>G c.(682-684)GTC>GTG p.V228V NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 228 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATTCCTTCGTCCTGAGACGCC 0.478 NA 28 57 0 0 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587173 42587173 + Silent SNP C C A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:42587173C>A uc003xpi.1 + 5 851 c.723C>A c.(721-723)ATC>ATA p.I241I NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 241 Helical; (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCTTTCTCATCATCCCCTGCC 0.468 NA 26 49 3.74e-18 8.04e-18 1 0 FAM135B 51059 broad.mit.edu 37 8 139164397 139164397 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:139164397G>T uc003yuy.2 - 13 2492 c.2321C>A c.(2320-2322)CCC>CAC p.P774H FAM135B_uc003yux.2_Missense_Mutation_p.P675H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P336H|FAM135B_uc003yvb.2_Missense_Mutation_p.P336H NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 774 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTGATGTGGGGAGCAGATAC 0.522 NA HNSCC(54;0.14) 8 99 1.59e-06 3.32e-06 1 0 NAPRT1 93100 broad.mit.edu 37 8 144658293 144658293 + Silent SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:144658293G>A uc003yym.3 - 8 1087 c.1062C>T c.(1060-1062)GTC>GTT p.V354V NAPRT1_uc003yyn.3_Silent_p.V354V|NAPRT1_uc011lkh.1_Silent_p.V354V|NAPRT1_uc003yyo.3_Silent_p.V354V NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 354 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGTTGTTGCTGACTACGATGA 0.672 NA 12 40 0 0 0 0 SUSD1 64420 broad.mit.edu 37 9 114911525 114911525 + Silent SNP T T A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:114911525T>A uc004bfu.2 - 3 413 c.372A>T c.(370-372)ACA>ACT p.T124T SUSD1_uc010mui.2_Silent_p.T124T|SUSD1_uc010muj.2_Silent_p.T124T NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 124 Extracellular (Potential). integral to membrane calcium ion binding 0 CTTGAGTACCTGTACAAAAGG 0.328 NA 39 211 0 0 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123239729 123239729 + Splice_Site SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:123239729C>T uc004bkf.2 - 15 1808 c.1627_splice c.e15-1 p.E543_splice CDK5RAP2_uc004bkg.2_Splice_Site_p.E543_splice|CDK5RAP2_uc011lxw.1_Splice_Site|CDK5RAP2_uc011lxx.1_Splice_Site|CDK5RAP2_uc011lxy.1_Splice_Site|CDK5RAP2_uc011lxz.1_Splice_Site|CDK5RAP2_uc011lya.1_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.E543_splice|CDK5RAP2_uc004bki.2_Splice_Site_p.E342_splice NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 GTTTCTTTTCCTGGAAATGAC 0.358 NA OREG0019439 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 60 0 0 0 0 MAP7D2 256714 broad.mit.edu 37 X 20043130 20043130 + Missense_Mutation SNP G G T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:20043130G>T uc004czr.1 - 9 1247 c.1228C>A c.(1228-1230)CAG>AAG p.Q410K MAP7D2_uc004czq.1_Missense_Mutation_p.Q295K|MAP7D2_uc011mji.1_Missense_Mutation_p.Q358K|MAP7D2_uc010nfo.1_Missense_Mutation_p.Q451K|MAP7D2_uc011mjj.1_Missense_Mutation_p.Q365K NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 410 ovary(2)|breast(1) 3 AGCCGGGCCTGTCTTCTCTTT 0.527 NA 56 44 3.4e-31 7.36e-31 1 0 BCOR 54880 broad.mit.edu 37 X 39937101 39937101 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:39937101C>G uc004den.3 - 2 374 c.82G>C c.(82-84)GAC>CAC p.D28H BCOR_uc004dep.3_Missense_Mutation_p.D28H|BCOR_uc004deo.3_Missense_Mutation_p.D28H|BCOR_uc004dem.3_Missense_Mutation_p.D28H|BCOR_uc004deq.3_Missense_Mutation_p.D28H NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 28 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 ATTCACCTGTCTTCGCTCGCC 0.627 NA 18 9 0 0 0 0 TMEM187 8269 broad.mit.edu 37 X 153247560 153247560 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:153247560G>C uc004fjq.2 + 2 581 c.47G>C c.(46-48)GGT>GCT p.G16A hsa-mir-3202-2|MI0014253_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN transmembrane protein 187 16 Helical; (Potential). integral to membrane|transport vesicle 0 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGTGGCCGGTGGCCTCTGT 0.647 NA 14 10 0 0 0 0 RPL10 6134 broad.mit.edu 37 X 153628946 153628946 + Missense_Mutation SNP C C G TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:153628946C>G uc004fkm.2 + 6 659 c.471C>G c.(469-471)TTC>TTG p.F157L uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F157L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F82L NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 157 F -> L (in Ref. 8; BAD97029). endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCCAAGTTCAAGTTTCCTG 0.562 NA 3 35 0 0 0 0 POLR2H 5437 broad.mit.edu 37 3 184082973 184082998 + Frame_Shift_Del DEL GGATGATGGTGAATACAACCCCACTG GGATGATGGTGAATACAACCCCACTG - rs112012928 TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG uc003fok.1 + 3 297_322 c.210_235delGGATGATGGTGAATACAACCCCACTG c.(208-237)CTGGATGATGGTGAATACAACCCCACTGATfs p.L70fs POLR2H_uc003foj.1_RNA NM_006232 NP_006223 P52434 RPAB3_HUMAN RNA polymerase II, polypeptide H 70_79 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC 0.407 NA 9 141 --- --- --- --- NA NA NA NA LEMD2 221496 broad.mit.edu 37 6 33744932 33744933 + Frame_Shift_Ins INS - - TC TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:33744932_33744933insTC uc011drm.1 - 7 1253_1254 c.1240_1241insGA c.(1240-1242)ATGfs p.M414fs LEMD2_uc010jvg.2_Frame_Shift_Ins_p.M123fs|LEMD2_uc011drl.1_Frame_Shift_Ins_p.M112fs|LEMD2_uc003ofe.2_Frame_Shift_Ins_p.M112fs NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN LEM domain containing 2 isoform 1 414 integral to nuclear inner membrane central_nervous_system(1) 1 CTTCTTCACCATCTCATACATG 0.51 NA 32 193 --- --- --- --- NA NA NA NA RSPH3 83861 broad.mit.edu 37 6 159403578 159403579 + Frame_Shift_Ins INS - - TC TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr6:159403578_159403579insTC uc003qrx.2 - 5 1250_1251 c.1060_1061insGA c.(1060-1062)AATfs p.N354fs RSPH3_uc010kju.2_Frame_Shift_Ins_p.N258fs|RSPH3_uc003qry.1_Frame_Shift_Ins_p.N354fs NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 354 Potential. ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) ACGTTCACTATTCCGTAGTTCT 0.431 NA 12 68 --- --- --- --- NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110460576 110460576 + Frame_Shift_Del DEL T T - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr8:110460576delT uc003yne.2 + 39 6085 c.5981delT c.(5980-5982)GTAfs p.V1994fs NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1994 Extracellular (Potential).|IPT/TIG 12. 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) TCCACAGTTGTATTTGAGTAC 0.393 NA HNSCC(38;0.096) 8 32 --- --- --- --- NA NA NA NA FAM166B 730112 broad.mit.edu 37 9 35562439 35562439 + Frame_Shift_Del DEL G G - rs77185976 byFrequency TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chr9:35562439delG uc010mkr.2 - 5 748 c.677delC c.(676-678)CCAfs p.P226fs FAM166B_uc011lov.1_Frame_Shift_Del_p.P214fs|FAM166B_uc011low.1_Frame_Shift_Del_p.H211fs|FAM166B_uc003zwy.2_Frame_Shift_Del_p.P203fs NM_001164310 NP_001157782 A8MTA8 F166B_HUMAN hypothetical protein LOC730112 isoform 1 226 0 TCTGGGAAGTGGGGGGAGATG 0.582 NA 2 4 --- --- --- --- NA NA NA NA AR 367 broad.mit.edu 37 X 66765243 66765245 + In_Frame_Del DEL GCA GCA - TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ee675976-b447-48c8-bc67-6878a0d35e07 7da18a81-556e-48ca-a591-d8db35d19aad g.chrX:66765243_66765245delGCA uc004dwu.1 + 1 1370_1372 c.255_257delGCA c.(253-258)AGGCAG>AGG p.Q91del AR_uc011mpd.1_In_Frame_Del_p.Q91del|AR_uc011mpe.1_RNA|AR_uc011mpf.1_In_Frame_Del_p.Q91del NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 89 Poly-Gln.|Modulating.|Gln-rich. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ctagccccaggcagcagcagcag 0.296 NA Androgen_Insensitivity_Syndrome 3 5 --- --- --- --- NA NA NA NA