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 PRAMEF12 390999 broad.mit.edu 37 1 12835749 12835749 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:12835749T>C uc001aui.2 + 2 378 c.351T>C c.(349-351)TCT>TCC p.S117S NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 117 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCATATGGTCTGGAGCTTCTG 0.542 NA 15 174 0 0 0.00499 0 0 CCDC24 149473 broad.mit.edu 37 1 44461327 44461327 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:44461327G>A uc001clj.2 + 7 778 c.607G>A c.(607-609)GAG>AAG p.E203K SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.E158K|CCDC24_uc009vxc.2_Missense_Mutation_p.E167K NM_152499 NP_689712 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 203 Potential. 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGCAGCCCTGGAGCCCACCCT 0.647 NA 5 6 0 0 0.000602 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548004 47548004 + Splice_Site SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:47548004A>C uc001cqu.1 + 4 368 c.365_splice c.e4-2 p.G122_splice NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 TCATTTCATAAGGTCGAGGAC 0.448 NA 10 35 0 0 0.000978 0 0 TTLL7 79739 broad.mit.edu 37 1 84415658 84415658 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:84415658T>C uc001djc.2 - 4 565 c.169A>G c.(169-171)ATA>GTA p.I57V TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 57 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ATTTCATCTATTACTAAACGA 0.308 NA 12 18 0 0 0.000978 0 0 HRNR 388697 broad.mit.edu 37 1 152187828 152187828 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:152187828T>C uc001ezt.1 - 3 6353 c.6277A>G c.(6277-6279)AGC>GGC p.S2093G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2093 23. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCACTGCTGGAAGACCGA 0.617 NA 14 44 0 0 0.008871 0 0 CD5L 922 broad.mit.edu 37 1 157805885 157805885 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:157805885A>C uc001frk.3 - 3 259 c.116T>G c.(115-117)GTG>GGG p.V39G NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 39 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) TTTCTGTTCCACCTCCACCCG 0.637 NA 10 104 0 0 0.002299 0 0 ATP1A4 480 broad.mit.edu 37 1 160124926 160124926 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:160124926T>G uc001fve.3 + 3 778 c.299T>G c.(298-300)TTC>TGC p.F100C ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 100 Helical; (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGGTCAAATTCTGTAAGCAA 0.522 NA 19 85 0 0 0.008871 0 0 NCSTN 23385 broad.mit.edu 37 1 160318908 160318908 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:160318908A>G uc001fvx.2 + 3 434 c.310A>G c.(310-312)ACC>GCC p.T104A NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.T84A|NCSTN_uc010pjf.1_Missense_Mutation_p.T104A|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 104 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGCATTTTACCAGGTAAGA 0.473 NA 11 53 0 0 0.000978 0 0 C1orf112 55732 broad.mit.edu 37 1 169816858 169816858 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:169816858A>G uc001ggp.2 + 21 2282 c.1972A>G c.(1972-1974)AAA>GAA p.K658E C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.K658E|C1orf112_uc009wvt.2_Missense_Mutation_p.K335E|C1orf112_uc009wvu.1_Missense_Mutation_p.K534E|C1orf112_uc001ggr.2_Missense_Mutation_p.K523E|C1orf112_uc010plv.1_Missense_Mutation_p.K600E NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 658 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCGCTACTTAAATTAGAGCT 0.353 NA 13 284 0 0 0.00245 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003573 170003573 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:170003573C>T uc001ggv.2 - 7 953 c.682G>A c.(682-684)GAT>AAT p.D228N KIFAP3_uc010ply.1_Missense_Mutation_p.D150N|KIFAP3_uc001ggw.1_Missense_Mutation_p.D184N NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 228 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACTCATGATCAATAATATTC 0.303 NA 19 82 0 0 0.008871 0 0 CR2 1380 broad.mit.edu 37 1 207642160 207642160 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:207642160C>T uc001hfw.2 + 4 744 c.650C>T c.(649-651)TCT>TTT p.S217F CR2_uc001hfv.2_Missense_Mutation_p.S217F|CR2_uc009xch.2_Missense_Mutation_p.S217F|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 217 Sushi 4.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CGCTGTAAATCTCTAGGACGA 0.408 NA 26 101 0 0 0.004656 0 0 CABC1 56997 broad.mit.edu 37 1 227169734 227169734 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:227169734A>C uc001hqm.1 + 11 4156 c.737A>C c.(736-738)AAG>ACG p.K246T CABC1_uc001hqn.1_Missense_Mutation_p.K246T|CABC1_uc009xeq.1_Missense_Mutation_p.K194T|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR|CABC1_uc009xer.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 246 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) ACAGGGAAGAAGGCCGTGCTG 0.652 NA 5 49 0 0 0.001168 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227223259 227223259 + Silent SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:227223259A>C uc001hqr.2 - 24 4087 c.3144T>G c.(3142-3144)ACT>ACG p.T1048T CDC42BPA_uc001hqq.2_Silent_p.T347T|CDC42BPA_uc001hqs.2_Silent_p.T967T|CDC42BPA_uc009xes.2_Silent_p.T1020T|CDC42BPA_uc010pvs.1_Silent_p.T1028T|CDC42BPA_uc001hqp.2_Silent_p.T204T|CDC42BPA_uc001hqt.2_5'Flank|CDC42BPA_uc001hqu.1_Silent_p.T255T NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1061 Phorbol-ester/DAG-type. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) GAACTGGACAAGTGGTTGGAG 0.378 NA 6 127 0 0 0.00308 0 0 HEATR1 55127 broad.mit.edu 37 1 236737633 236737633 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:236737633T>C uc001hyd.1 - 24 3453 c.3328A>G c.(3328-3330)ATT>GTT p.I1110V HEATR1_uc009xgh.1_Missense_Mutation_p.I272V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1110 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) GGTTTTGTAATCTAGAGGGGG 0.318 NA 80 56 0 0 0.00361 0 0 ZMYND11 10771 broad.mit.edu 37 10 255922 255922 + Silent SNP A A T rs138135446 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:255922A>T uc010pzt.1 + 3 638 c.210A>T c.(208-210)ACA>ACT p.T70T ZMYND11_uc001ifk.2_Silent_p.T70T|ZMYND11_uc010pzu.1_Silent_p.T70T|ZMYND11_uc010pzv.1_Silent_p.T70T|ZMYND11_uc010pzw.1_Silent_p.T70T|ZMYND11_uc001ifm.2_Silent_p.T70T|ZMYND11_uc010pzx.1_Silent_p.T70T|ZMYND11_uc001ifn.2_Silent_p.T70T|ZMYND11_uc009xhg.2_Silent_p.T53T|ZMYND11_uc009xhh.2_Silent_p.T24T|ZMYND11_uc010pzy.1_Silent_p.T24T NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 30 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAACTCTAACAGTGGGCTGCA 0.418 NA 45 97 0 0 0.003214 0 0 SVIL 6840 broad.mit.edu 37 10 29821735 29821735 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:29821735T>G uc001iut.1 - 8 2314 c.1561A>C c.(1561-1563)AGT>CGT p.S521R SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.S521R NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 521 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ACAGGCTCACTTTGAATGTAG 0.557 NA 4 127 0 0 0.009096 0 0 Unknown 0 broad.mit.edu 37 10 31001490 31001490 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:31001490A>C uc010qdx.1 + 9 1474 c.932A>C c.(931-933)AAA>ACA p.K311T SubName: Full=cDNA FLJ59642, highly similar to Supervillin; NA ACTACAGGAAAAAAATCTCAA 0.448 NA 11 33 0 0 0.001368 0 0 FAM21C 253725 broad.mit.edu 37 10 46261127 46261127 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:46261127G>A uc001jcu.2 + 19 1837 c.1738G>A c.(1738-1740)GAT>AAT p.D580N FAM21C_uc001jcs.1_Missense_Mutation_p.D525N|FAM21C_uc001jct.2_Missense_Mutation_p.D580N|FAM21C_uc010qfi.1_Missense_Mutation_p.D556N|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 580 ovary(1) 1 GCTTTTCTAGGATAATCTTTT 0.403 NA 44 88 0 0 0.00361 0 0 PRF1 5551 broad.mit.edu 37 10 72360376 72360376 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:72360376A>G uc009xqg.2 - 2 444 c.283T>C c.(283-285)TGG>CGG p.W95R PRF1_uc001jrf.3_Missense_Mutation_p.W95R NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 95 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TGGGCCCGCCAGTTGGTGAGC 0.657 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 7 17 0 0 0.00308 0 0 C10orf79 80217 broad.mit.edu 37 10 105944850 105944850 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr10:105944850T>G uc001kxw.2 - 16 2181 c.2065A>C c.(2065-2067)ATG>CTG p.M689L C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.M690L NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 689 WD 9. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GAAATTCTCATTGACTGAATC 0.383 NA 5 107 0 0 0.001168 0 0 RPLP2 6181 broad.mit.edu 37 11 812597 812597 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:812597T>C uc001lrq.1 + 4 340 c.235T>C c.(235-237)TCT>CCT p.S79P RPLP2_uc001lrr.1_Missense_Mutation_p.S79P NM_001004 NP_000995 P05387 RLA2_HUMAN ribosomal protein P2 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCCCCAGGCTCTGCAGCCCC 0.637 NA 7 32 0 0 0.008291 0 0 COPB1 1315 broad.mit.edu 37 11 14512166 14512166 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:14512166T>G uc001mli.2 - 5 858 c.551A>C c.(550-552)GAG>GCG p.E184A COPB1_uc001mlg.2_Missense_Mutation_p.E184A|COPB1_uc001mlh.2_Missense_Mutation_p.E184A NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 184 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 TGCATCCTTCTCATTCACCAG 0.308 NA 3 60 0 0 0.000602 0 0 OR4A5 81318 broad.mit.edu 37 11 51412305 51412305 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:51412305G>C uc001nhi.1 - 1 91 c.91C>G c.(91-93)CTC>GTC p.L31V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) AAGTATGTGAGTAAAAACATG 0.428 NA 19 39 0 0 0.006122 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108420 64108420 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:64108420T>G uc001nzy.2 + 3 292 c.248T>G c.(247-249)CTT>CGT p.L83R CCDC88B_uc009ypo.1_Missense_Mutation_p.L80R|CCDC88B_uc001nzz.1_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 83 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 CTCAGAGGCCTTGACGGACCT 0.667 NA 21 89 0 0 0.005443 0 0 ATM 472 broad.mit.edu 37 11 108236087 108236087 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:108236087G>A uc001pkb.1 + 63 9408 c.9023G>A c.(9022-9024)CGT>CAT p.R3008H ATM_uc009yxr.1_Missense_Mutation_p.R3008H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1660H NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3008 R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).|R -> H (in B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R3008C(4)|p.R3008H(4) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTAGCTGAACGTGTCTTAATG 0.413 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 22 71 0 0 0.002299 0 0 TRIM29 23650 broad.mit.edu 37 11 119996453 119996453 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr11:119996453T>G uc001pwz.2 - 4 1403 c.1279A>C c.(1279-1281)ATG>CTG p.M427L TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.M166L|TRIM29_uc010rzj.1_Missense_Mutation_p.M160L|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 427 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCCTTGCACATCTTCTCAACG 0.577 NA 8 44 0 0 0.004482 0 0 SLC6A12 6539 broad.mit.edu 37 12 301809 301809 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:301809A>G uc001qhz.2 - 16 2079 c.1536T>C c.(1534-1536)ACT>ACC p.T512T SLC6A12_uc001qhx.2_Silent_p.T169T|SLC6A12_uc001qhy.2_Silent_p.T68T|SLC6A12_uc001qia.2_Silent_p.T512T|SLC6A12_uc001qib.2_Silent_p.T512T|SLC6A12_uc009zdh.1_Silent_p.T512T NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 512 Helical; Name=11; (Potential). cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AGAAGAGGAAAGTGGCCTGGG 0.567 NA 18 46 0 0 0.00499 0 0 KIAA0528 9847 broad.mit.edu 37 12 22680702 22680702 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:22680702G>A uc001rfq.2 - 4 530 c.302C>T c.(301-303)GCT>GTT p.A101V KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.A101V|KIAA0528_uc010sit.1_Missense_Mutation_p.A101V|KIAA0528_uc010siu.1_Missense_Mutation_p.A101V|KIAA0528_uc001rfr.2_Missense_Mutation_p.A101V|KIAA0528_uc009ziy.1_Missense_Mutation_p.A101V NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 101 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GACTGTTGCAGCTTCACTATA 0.323 NA 34 82 0 0 0.005524 0 0 SP1 6667 broad.mit.edu 37 12 53805023 53805023 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:53805023G>A uc001scw.2 + 6 2454 c.2357G>A c.(2356-2358)TGA>TAA p.*786* SP1_uc010sog.1_Silent_p.*779* NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 786 positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) AATGGCTTCTGAGATCAGGCA 0.552 NA 4 39 0 0 0.000602 0 0 OR6C2 341416 broad.mit.edu 37 12 55846627 55846627 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:55846627T>G uc001sgz.1 + 1 630 c.630T>G c.(628-630)GTT>GTG p.V210V NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCACCCTAGTTTGTGTGATTC 0.408 NA 33 110 0 0 0.003755 0 0 KRR1 11103 broad.mit.edu 37 12 75897801 75897801 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:75897801A>T uc001sxt.2 - 7 755 c.714T>A c.(712-714)AGT>AGA p.S238R KRR1_uc009zsc.2_Intron NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 238 rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 ATCTCTCCCAACTTTGTGATC 0.343 NA 8 124 0 0 0.00308 0 0 UTP20 27340 broad.mit.edu 37 12 101723073 101723073 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:101723073T>G uc001tia.1 + 27 3419 c.3263T>G c.(3262-3264)GTT>GGT p.V1088G NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1088 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TTGTCTAAAGTTCTTCCTTTA 0.413 NA 8 100 0 0 0.00308 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336857 104336857 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:104336857A>T uc001tkb.1 + 13 1755 c.1650A>T c.(1648-1650)GAA>GAT p.E550D HSP90B1_uc010swg.1_Missense_Mutation_p.E215D|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 550 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) TGTAGGCTGAATCTTCTCCAT 0.373 NA 35 104 0 0 0.002522 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420361 105420361 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr12:105420361A>C uc001tlc.2 - 22 2805 c.2678T>G c.(2677-2679)TTT>TGT p.F893C ALDH1L2_uc009zuo.2_Missense_Mutation_p.F348C|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 893 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 AACTCCGCCAAATGGGGCCGC 0.393 NA 30 89 0 0 0.008361 0 0 PABPC3 5042 broad.mit.edu 37 13 25670991 25670991 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:25670991A>G uc001upy.2 + 1 716 c.655A>G c.(655-657)AGT>GGT p.S219G NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 219 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GCCCGCCTTAAGTGTGAAAGT 0.418 NA 4 68 0 0 0.000602 0 0 USP12 219333 broad.mit.edu 37 13 27690659 27690659 + Missense_Mutation SNP T T A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:27690659T>A uc001uqy.2 - 2 376 c.123A>T c.(121-123)TTA>TTT p.L41F NM_182488 NP_872294 O75317 UBP12_HUMAN ubiquitin thiolesterase 12 41 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1) 1 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TTACATTGACTAATCCAAAAT 0.343 Ovarian(37;808 911 7590 44442 44991) NA 15 28 0 0 0.003163 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33091950 33091950 + Missense_Mutation SNP T T G rs138840363 TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:33091950T>G uc001uuk.3 - 6 1919 c.1741A>C c.(1741-1743)AAT>CAT p.N581H N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 581 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TAATGATTATTTGTGACACAG 0.408 NA 3 35 0 0 0.004672 0 0 LRCH1 23143 broad.mit.edu 37 13 47224374 47224374 + Missense_Mutation SNP T T A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr13:47224374T>A uc001vbj.2 + 2 582 c.346T>A c.(346-348)TTG>ATG p.L116M LRCH1_uc010acp.2_Missense_Mutation_p.L116M|LRCH1_uc001vbk.2_Missense_Mutation_p.L116M|LRCH1_uc001vbl.3_Missense_Mutation_p.L116M NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 116 LRR 1. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TCCAATGGAATTGTGCCATTT 0.333 NA 10 30 0 0 0.006214 0 0 KIAA1370 56204 broad.mit.edu 37 15 52874472 52874472 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:52874472A>T uc002acg.3 - 13 3263 c.3110T>A c.(3109-3111)CTC>CAC p.L1037H KIAA1370_uc002ach.3_RNA|KIAA1370_uc002acf.3_Missense_Mutation_p.L67H|KIAA1370_uc010ugf.1_Missense_Mutation_p.L1044H NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 1037 0 all cancers(107;0.0803) GTCTCTATGGAGGTAGATCTT 0.358 NA 12 18 0 0 0.003163 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306126 58306126 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:58306126T>C uc002aex.2 - 3 351 c.293A>G c.(292-294)GAT>GGT p.D98G ALDH1A2_uc002aey.2_Missense_Mutation_p.D98G|ALDH1A2_uc010ugv.1_Missense_Mutation_p.D77G|ALDH1A2_uc010ugw.1_Missense_Mutation_p.D69G|ALDH1A2_uc002aew.2_Missense_Mutation_p.D2G NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 98 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCTGAAGCATCCATCCTTCT 0.483 NA 94 190 0 0 0.00361 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157638 65157638 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr15:65157638T>C uc002anv.2 + 6 1158 c.1024T>C c.(1024-1026)TCA>CCA p.S342P PLEKHO2_uc010bgz.2_Missense_Mutation_p.S18P|PLEKHO2_uc002anw.2_Missense_Mutation_p.S292P NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 342 Pro-rich. ovary(1)|lung(1) 2 AGTGCAGGTCTCAGTGAATGG 0.577 NA 3 32 0 0 0.004672 0 0 ABCC6 368 broad.mit.edu 37 16 16256971 16256971 + Nonsense_Mutation SNP C C A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:16256971C>A uc002den.3 - 24 3422 c.3385G>T c.(3385-3387)GAG>TAG p.E1129* ABCC6_uc010bvo.2_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1129 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGGAACGTCTCAGCCATGTGG 0.567 NA 25 56 5.35356e-11 5.67054e-11 0.00278 1 0 TNRC6A 27327 broad.mit.edu 37 16 24800787 24800787 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:24800787A>C uc002dmm.2 + 6 938 c.824A>C c.(823-825)AAC>ACC p.N275T TNRC6A_uc010bxs.2_Missense_Mutation_p.N22T|TNRC6A_uc010vcc.1_Missense_Mutation_p.N22T|TNRC6A_uc002dmn.2_Missense_Mutation_p.N22T|TNRC6A_uc002dmo.2_Missense_Mutation_p.N22T NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 275 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Ser-rich. 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) GCTTCAGGGAACACAGGTGGT 0.483 NA 4 102 0 0 0.009096 0 0 CYLD 1540 broad.mit.edu 37 16 50783950 50783950 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:50783950A>C uc002egp.1 + 4 756 c.341A>C c.(340-342)AAA>ACA p.K114T CYLD_uc002egn.1_Missense_Mutation_p.K114T|CYLD_uc002ego.2_Missense_Mutation_p.K114T|CYLD_uc010cbs.1_Missense_Mutation_p.K114T|CYLD_uc002egq.1_Missense_Mutation_p.K114T|CYLD_uc002egr.1_Missense_Mutation_p.K114T|CYLD_uc002egs.1_Missense_Mutation_p.K114T NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 114 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AGCCTGTTTAAAAACAGAAAC 0.403 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 8 128 0 0 0.00308 0 0 GALNS 2588 broad.mit.edu 37 16 88898418 88898418 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:88898418G>A uc002fly.3 - 9 1079 c.990C>T c.(988-990)GTC>GTT p.V330V GALNS_uc010cid.2_Silent_p.V336V|GALNS_uc002flz.3_Silent_p.V13V NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 330 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GGCCTGCAGTGACGTGCCCTG 0.677 GBM(129;1929 2344 25209 33204) NA 15 16 0 0 0.00245 0 0 GAS7 8522 broad.mit.edu 37 17 9828912 9828912 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:9828912C>T uc002gmg.1 - 11 1180 c.1019G>A c.(1018-1020)CGG>CAG p.R340Q GAS7_uc010vvc.1_Missense_Mutation_p.R154Q|GAS7_uc002gmh.1_Missense_Mutation_p.R200Q|GAS7_uc010vvd.1_Missense_Mutation_p.R292Q|GAS7_uc002gmi.2_Missense_Mutation_p.R276Q|GAS7_uc002gmj.1_Missense_Mutation_p.R280Q|GAS7_uc010coh.1_Missense_Mutation_p.R280Q NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 340 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GAGGGCTTTCCGGGCCTGGGG 0.617 NA T MLL AML* 24 16 0 0 0.00278 0 0 NCOR1 9611 broad.mit.edu 37 17 15938112 15938112 + Missense_Mutation SNP C C G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:15938112C>G uc002gpo.2 - 45 7342 c.7102G>C c.(7102-7104)GGG>CGG p.G2368R NCOR1_uc002gpn.2_Missense_Mutation_p.G2265R|NCOR1_uc002gpl.2_Missense_Mutation_p.G382R|NCOR1_uc002gpm.2_Missense_Mutation_p.G887R|NCOR1_uc010vwb.1_Missense_Mutation_p.G952R|NCOR1_uc010coy.2_Missense_Mutation_p.G1276R NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2368 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGGCCCACCCTGGCGTCTGC 0.468 NA 5 110 0 0 0.000602 0 0 NCOR1 9611 broad.mit.edu 37 17 16062117 16062117 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:16062117T>C uc002gpo.2 - 6 929 c.689A>G c.(688-690)CAG>CGG p.Q230R NCOR1_uc002gpn.2_Missense_Mutation_p.Q230R|NCOR1_uc002gpp.1_Missense_Mutation_p.Q121R|NCOR1_uc002gpr.2_Missense_Mutation_p.Q121R|NCOR1_uc002gps.1_Missense_Mutation_p.Q230R|NCOR1_uc010coz.1_Missense_Mutation_p.Q46R|NCOR1_uc010cpb.1_Missense_Mutation_p.Q230R|NCOR1_uc010cpa.1_Missense_Mutation_p.Q230R NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 230 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCGGTGTTTCTGCTCCACAGG 0.493 NA 3 58 0 0 0.009096 0 0 C17orf104 284071 broad.mit.edu 37 17 42744680 42744680 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:42744680T>G uc010czv.2 + 5 1401 c.1401T>G c.(1399-1401)TCT>TCG p.S467S C17orf104_uc002igy.1_Silent_p.S301S|C17orf104_uc002igz.3_Silent_p.S301S|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.S301S NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 467 central_nervous_system(1) 1 CAGCAACATCTTCAGGAGGTA 0.328 NA 43 133 0 0 0.007835 0 0 GFAP 2670 broad.mit.edu 37 17 42988815 42988815 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:42988815G>A uc002ihq.2 - 6 976 c.916C>T c.(916-918)CTG>TTG p.L306L GFAP_uc002ihr.2_Silent_p.L306L|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 306 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) TGCCTCTCCAGGGACTCGTTC 0.592 NA 12 40 0 0 0.001368 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626586 44626586 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:44626586T>C uc002ikn.1 + 9 4084 c.4081T>C c.(4081-4083)TCC>CCC p.S1361P ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.S322P|LRRC37A2_uc010dax.1_Missense_Mutation_p.S291P NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1361 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GGCTTTTTCATCCTTAGGAGA 0.413 NA 13 160 0 0 0.00333 0 0 TOB1 10140 broad.mit.edu 37 17 48941171 48941171 + Nonsense_Mutation SNP G G A rs142442521 by1000genomes TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:48941171G>A uc002isw.2 - 1 243 c.208C>T c.(208-210)CAA>TAA p.Q70* TOB1_uc010wmy.1_Nonsense_Mutation_p.Q70*|TOB1_uc010wmz.1_Nonsense_Mutation_p.Q70* NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 70 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TTGGATGCTTGTTCAATCACT 0.428 NSCLC(144;643 1919 24513 29423 40686) NA 14 196 0 0 0.001855 0 0 ANKFN1 162282 broad.mit.edu 37 17 54517778 54517778 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:54517778T>C uc002iun.1 + 8 1045 c.1010T>C c.(1009-1011)CTT>CCT p.L337P NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 337 Fibronectin type-III. large_intestine(1)|ovary(1) 2 ATCACAGGACTTACAATGGTA 0.428 NA 4 81 0 0 0.009096 0 0 TBX4 9496 broad.mit.edu 37 17 59543207 59543207 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr17:59543207A>C uc002izi.2 + 3 354 c.309A>C c.(307-309)AAA>AAC p.K103N TBX4_uc010ddo.2_Missense_Mutation_p.K103N|TBX4_uc010woy.1_Missense_Mutation_p.K103N NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 103 T-box. leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 ACAAGGTAAAAGTCACAGGCA 0.542 NA 15 66 0 0 0.003163 0 0 DSG4 147409 broad.mit.edu 37 18 28979256 28979256 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:28979256C>T uc002kwq.2 + 9 1162 c.1027C>T c.(1027-1029)CCT>TCT p.P343S DSG4_uc002kwr.2_Missense_Mutation_p.P343S NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 343 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) TGAACAAGCACCTAACATTCA 0.373 NA 30 71 0 0 0.008361 0 0 MCART2 147407 broad.mit.edu 37 18 29340050 29340050 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:29340050C>T uc002kxa.2 - 1 794 c.575G>A c.(574-576)GGC>GAC p.G192D NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN mitochondrial carrier triple repeat 2 192 Helical; Name=4; (Potential).|Solcar 2. transport integral to membrane|mitochondrial inner membrane skin(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.0539) ACCTCGAAGGCCGAAAAACAA 0.478 NA 10 68 0 0 0.008291 0 0 ZNF271 10778 broad.mit.edu 37 18 32886980 32886980 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:32886980T>C uc002kyq.3 + 3 1384 c.392T>C c.(391-393)TTC>TCC p.F131S ZNF271_uc002kyp.3_Missense_Mutation_p.F131S|ZNF271_uc002kyr.3_Missense_Mutation_p.F131S NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 ATCACAGAATTCATACAGGTG 0.383 NA 4 63 0 0 0.009096 0 0 KIAA1632 57724 broad.mit.edu 37 18 43462310 43462310 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:43462310T>G uc002lbm.2 - 31 5547 c.5447A>C c.(5446-5448)AAG>ACG p.K1816T KIAA1632_uc010xcq.1_Missense_Mutation_p.K370T|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K691T NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1816 autophagy 0 AGTCCAGTGCTTACAGAAAAG 0.423 NA 22 39 0 0 0.00278 0 0 KIAA1632 57724 broad.mit.edu 37 18 43534828 43534828 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:43534828T>G uc002lbm.2 - 2 640 c.540A>C c.(538-540)GAA>GAC p.E180D KIAA1632_uc002lbo.1_Missense_Mutation_p.E180D NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 180 autophagy 0 CTTGTTTGTCTTCTTTACTAT 0.418 NA 7 57 0 0 0.001984 0 0 MYO5B 4645 broad.mit.edu 37 18 47462675 47462675 + Silent SNP C C G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:47462675C>G uc002leb.2 - 16 2238 c.1950G>C c.(1948-1950)ACG>ACC p.T650T MYO5B_uc002lec.1_Silent_p.T649T NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 650 Myosin head-like.|Actin-binding (Potential). protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AGTGAGGTGTCGTGGCATTCA 0.517 NA 2 6 0 0 0.004672 0 0 SERPINB5 5268 broad.mit.edu 37 18 61160237 61160237 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr18:61160237T>G uc002liz.3 + 5 618 c.476T>G c.(475-477)ATC>AGC p.I159S SERPINB5_uc002liy.2_Missense_Mutation_p.I159S NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 159 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 CAGACCAAAATCCTTGTGGTT 0.388 NA 6 223 0 0 0.001168 0 0 KLF16 83855 broad.mit.edu 37 19 1854696 1854696 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:1854696A>G uc002luc.2 - 2 589 c.521T>C c.(520-522)CTG>CCG p.L174P KLF16_uc010xgt.1_RNA NM_031918 NP_114124 Q9BXK1 KLF16_HUMAN BTE-binding protein 4 174 C2H2-type 2. nucleus DNA binding|zinc ion binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCGGGCCAGCTCGTCGGA 0.672 NA 4 26 0 0 0.006214 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739364 15739364 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:15739364T>G uc002nbi.2 + 13 1337 c.1273T>G c.(1273-1275)TTC>GTC p.F425V CYP4F8_uc010xoj.1_Missense_Mutation_p.F237V NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 425 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CATCAACATCTTCGCAATCCA 0.622 NA 30 206 0 0 0.002445 0 0 PIK3R2 5296 broad.mit.edu 37 19 18279608 18279608 + Silent SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:18279608C>T uc002nia.1 + 15 2393 c.1881C>T c.(1879-1881)ATC>ATT p.I627I PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 627 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 TGGGCAAGATCAACCGCACGC 0.667 NA OREG0025359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 0.004672 0 0 NCAN 1463 broad.mit.edu 37 19 19338102 19338102 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:19338102G>A uc002nlz.2 + 8 1772 c.1673G>A c.(1672-1674)GGC>GAC p.G558D NCAN_uc010ecc.1_Missense_Mutation_p.G122D NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 558 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TCTGCTGGTGGCAAGAGCTCC 0.607 NA 8 98 0 0 0.004482 0 0 PSG2 5670 broad.mit.edu 37 19 43576000 43576000 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:43576000A>G uc002ovr.2 - 4 909 c.816T>C c.(814-816)TCT>TCC p.S272S PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.S272S|PSG2_uc010eiq.1_Silent_p.S272S|PSG2_uc002ovs.3_Silent_p.S272S|PSG2_uc002ovt.3_Silent_p.S272S NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 272 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) TAATTGTCCAAGAATACTGTG 0.443 NA 51 55 0 0 0.00361 0 0 PSG2 5670 broad.mit.edu 37 19 43576051 43576051 + Missense_Mutation SNP A A C rs1058095 TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:43576051A>C uc002ovr.2 - 4 858 c.765T>G c.(763-765)GAT>GAG p.D255E PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.D255E|PSG2_uc010eiq.1_Missense_Mutation_p.D255E|PSG2_uc002ovs.3_Missense_Mutation_p.D255E|PSG2_uc002ovt.3_Missense_Mutation_p.D255E NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 255 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) AGTAGAGGTTATCTCCTGAAC 0.458 NA 62 47 0 0 0.00361 0 0 SPHK2 56848 broad.mit.edu 37 19 49132515 49132515 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:49132515T>C uc002pjr.2 + 7 1816 c.1450T>C c.(1450-1452)TCA>CCA p.S484P SPHK2_uc010xzt.1_Missense_Mutation_p.S425P|SPHK2_uc002pjs.2_Missense_Mutation_p.S484P|SPHK2_uc002pjt.2_Missense_Mutation_p.S278P|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.S448P|SPHK2_uc002pjw.2_Missense_Mutation_p.S546P NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 484 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) AGCTCTACACTCACCCGTCTC 0.697 NA 8 91 0 0 0.008291 0 0 LHB 3972 broad.mit.edu 37 19 49519935 49519935 + Missense_Mutation SNP C C T rs146354951 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:49519935C>T uc002plt.2 - 2 61 c.52G>A c.(52-54)GCA>ACA p.A18T NM_000894 NP_000885 P01229 LSHB_HUMAN luteinizing hormone beta subunit precursor 18 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) GATGCCCATGCCCCGCCCATG 0.647 NA 3 45 0 0 0.004672 0 0 APOB 338 broad.mit.edu 37 2 21233338 21233338 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:21233338T>G uc002red.2 - 26 6530 c.6402A>C c.(6400-6402)CAA>CAC p.Q2134H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2134 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATGTGAAACTTGTCTCTCCC 0.343 NA 5 39 0 0 0.000602 0 0 SRBD1 55133 broad.mit.edu 37 2 45778344 45778344 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:45778344C>T uc002rus.2 - 12 1671 c.1595G>A c.(1594-1596)AGC>AAC p.S532N SRBD1_uc010yoc.1_Missense_Mutation_p.S51N NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 532 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TGGAACAGGGCTTGTTAAAAG 0.393 NA 5 43 0 0 0.000602 0 0 ANTXR1 84168 broad.mit.edu 37 2 69330049 69330049 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:69330049A>C uc002sfg.2 + 10 1135 c.779A>C c.(778-780)AAG>ACG p.K260T ANTXR1_uc002sfe.2_Missense_Mutation_p.K260T|ANTXR1_uc002sff.2_Missense_Mutation_p.K260T|ANTXR1_uc002sfd.2_Missense_Mutation_p.K260T|hsa-mir-3126|MI0014143_5'Flank NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 260 Extracellular (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 TGCAGCTTCAAGATCAATGAC 0.493 NA Familial_Infantile_Hemangioma 61 130 0 0 0.00361 0 0 RETSAT 54884 broad.mit.edu 37 2 85570424 85570424 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:85570424A>C uc002spd.2 - 11 1965 c.1774T>G c.(1774-1776)TTG>GTG p.L592V RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L531V|RETSAT_uc010fgf.2_Missense_Mutation_p.L383V NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 592 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) TCTGAGTACAAGTTCCGCTTC 0.537 NA 20 43 0 0 0.010504 0 0 HS6ST1 9394 broad.mit.edu 37 2 129025897 129025897 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:129025897A>G uc002tpt.3 - 2 1109 c.1075T>C c.(1075-1077)TAC>CAC p.Y359H NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 359 Potential.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) TTGTACTGGTAGCGCTGCTGG 0.662 NA 18 54 0 0 0.007413 0 0 LCT 3938 broad.mit.edu 37 2 136581471 136581471 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:136581471C>T uc002tuu.1 - 4 918 c.907G>A c.(907-909)GCC>ACC p.A303T NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 303 Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCCACTCACCTTCAAAAAGG 0.502 NA 9 32 0 0 0.008291 0 0 SLC4A10 57282 broad.mit.edu 37 2 162696373 162696373 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:162696373T>G uc002ubx.3 + 4 536 c.352T>G c.(352-354)TTC>GTC p.F118V SLC4A10_uc010fpa.1_Missense_Mutation_p.F130V|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.F118V|SLC4A10_uc010zcs.1_Missense_Mutation_p.F129V NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 118 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TCATGACCTTTTCACAGAACT 0.443 NA 5 67 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179572258 179572258 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:179572258A>C uc010zfg.1 - 97 25528 c.25304T>G c.(25303-25305)ATT>AGT p.I8435S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5096S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9362 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) TGTACCTTTAATGGTCACTTT 0.383 NA 11 17 0 0 0.000978 0 0 CERKL 375298 broad.mit.edu 37 2 182403906 182403906 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:182403906T>G uc002unx.2 - 13 1630 c.1529A>C c.(1528-1530)GAG>GCG p.E510A CERKL_uc002uny.2_Missense_Mutation_p.E484A|CERKL_uc010zfm.1_Missense_Mutation_p.E466A|CERKL_uc002unz.2_Missense_Mutation_p.E232A|CERKL_uc002uoa.2_Missense_Mutation_p.E415A|CERKL_uc002uob.2_Missense_Mutation_p.E232A|CERKL_uc002uoc.2_Missense_Mutation_p.E371A|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.E80A NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 510 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCCTCCTCCTCCTCTGGATT 0.353 NA 33 49 0 0 0.009535 0 0 TMEM198 130612 broad.mit.edu 37 2 220412409 220412409 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:220412409G>A uc002vme.2 + 4 933 c.348G>A c.(346-348)GTG>GTA p.V116V TMEM198_uc002vmf.2_Silent_p.V116V NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 116 Leu-rich.|Helical; (Potential). integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGCGCAGCGTGGGCCTCTTCC 0.701 NA 7 49 0 0 0.001984 0 0 DEFB125 245938 broad.mit.edu 37 20 76828 76828 + Missense_Mutation SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr20:76828G>T uc002wcw.2 + 2 241 c.241G>T c.(241-243)GAT>TAT p.D81Y NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 81 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TATAACATTGGATTATAGTGA 0.368 NA 57 114 2.47907e-22 2.66086e-22 0.00361 1 0 TIAM1 7074 broad.mit.edu 37 21 32492740 32492740 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:32492740A>C uc002yow.1 - 29 5194 c.4722T>G c.(4720-4722)ATT>ATG p.I1574M TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.I1514M NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1574 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GCCTAACCCAAATGACTTCCT 0.562 NA 11 25 0 0 0.001855 0 0 SLC37A1 54020 broad.mit.edu 37 21 43945903 43945903 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:43945903T>G uc002zbi.2 + 4 486 c.74T>G c.(73-75)TTT>TGT p.F25C SLC37A1_uc002zbj.2_Missense_Mutation_p.F25C NM_018964 NP_061837 P57057 GLPT_HUMAN solute carrier family 37 member 1 25 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane 0 GCCTTCATTTTTATTTTGACA 0.373 NA 4 46 0 0 0.001168 0 0 PWP2 5822 broad.mit.edu 37 21 45540652 45540652 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr21:45540652T>C uc002zeb.2 + 12 1568 c.1478T>C c.(1477-1479)CTC>CCC p.L493P NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 493 WD 10. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ACAGGCAGGCTCCTTGATGTA 0.632 NA 13 41 0 0 0.00499 0 0 MICAL3 57553 broad.mit.edu 37 22 18389374 18389374 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr22:18389374A>C uc002zng.3 - 2 558 c.205T>G c.(205-207)TTG>GTG p.L69V MICAL3_uc011agl.1_Missense_Mutation_p.L69V|MICAL3_uc002znh.2_Missense_Mutation_p.L69V|MICAL3_uc002znk.1_Missense_Mutation_p.L69V|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.L69V|MICAL3_uc011agm.1_Missense_Mutation_p.L69V NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 69 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CGTTTGTCCAATTTTGCCCAG 0.502 NA 53 109 0 0 0.00361 0 0 ZNF74 7625 broad.mit.edu 37 22 20754938 20754938 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr22:20754938A>C uc010gsm.2 + 4 349 c.137A>C c.(136-138)AAG>ACG p.K46T ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.K46T|ZNF74_uc002zsi.2_5'UTR|ZNF74_uc010gsn.2_5'UTR NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 46 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTGAGTTTCAAGGATGTGGCT 0.502 NA 15 45 0 0 0.004007 0 0 EFHB 151651 broad.mit.edu 37 3 19921190 19921190 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:19921190T>G uc003cbl.3 - 13 2631 c.2435A>C c.(2434-2436)GAG>GCG p.E812A EFHB_uc003cbm.2_Missense_Mutation_p.E682A NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 812 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TCTGATGTTCTCAACACAAAC 0.363 NA 33 98 0 0 0.002836 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365668 37365668 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:37365668T>C uc003cgv.2 + 14 2595 c.2291T>C c.(2290-2292)CTC>CCC p.L764P GOLGA4_uc010hgr.1_Missense_Mutation_p.L325P|GOLGA4_uc003cgw.2_Missense_Mutation_p.L786P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L645P NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 764 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CTTGAGCTTCTCTTGAAGGAA 0.408 NA 5 74 0 0 0.001168 0 0 PARP3 10039 broad.mit.edu 37 3 51978834 51978834 + Missense_Mutation SNP A A T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:51978834A>T uc003dby.2 + 5 913 c.542A>T c.(541-543)CAG>CTG p.Q181L RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.Q188L NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 181 DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAGCGGGTGCAGCCCTGCTCC 0.602 NA 7 14 0 0 0.00308 0 0 SLC15A2 6565 broad.mit.edu 37 3 121641974 121641974 + Missense_Mutation SNP C C A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:121641974C>A uc003eep.2 + 10 1108 c.955C>A c.(955-957)CAG>AAG p.Q319K SLC15A2_uc011bjn.1_Missense_Mutation_p.Q288K NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 319 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTTGGATCAGCAGGTAAGAAT 0.458 NA 4 127 0.00909568 0.00938721 0.009096 1 0 PLXND1 23129 broad.mit.edu 37 3 129305021 129305021 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:129305021T>C uc003emx.2 - 4 1815 c.1715A>G c.(1714-1716)GAG>GGG p.E572G NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 572 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TCACCGCGTCTCCAGGGCACA 0.701 Ovarian(97;366 1484 3738 22084 39045) NA 4 6 0 0 0.001168 0 0 ACAD11 84129 broad.mit.edu 37 3 132360968 132360968 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:132360968A>C uc003eov.3 - 4 765 c.385T>G c.(385-387)TTC>GTC p.F129V ACAD11_uc003eoy.2_Missense_Mutation_p.F129V NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 129 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 AAATCACGGAAGATTCGACCC 0.353 NA 20 55 0 0 0.00333 0 0 HPS3 84343 broad.mit.edu 37 3 148880568 148880568 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:148880568T>G uc003ewu.1 + 13 2524 c.2384T>G c.(2383-2385)CTT>CGT p.L795R HPS3_uc011bnq.1_Missense_Mutation_p.L630R|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 795 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATGTGGTACTTCAGGAACTC 0.458 NA Hermansky-Pudlak_syndrome 28 62 0 0 0.009535 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224294 172224294 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr3:172224294A>C uc003fid.2 - 5 929 c.834T>G c.(832-834)TTT>TTG p.F278L TNFSF10_uc003fie.2_3'UTR NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 278 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGCCAACTAAAAAGGCCCCAA 0.363 NA 4 75 0 0 0.009096 0 0 WDR19 57728 broad.mit.edu 37 4 39201143 39201143 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:39201143A>C uc003gtv.2 + 6 606 c.452A>C c.(451-453)AAT>ACT p.N151T WDR19_uc010ifl.1_Intron|WDR19_uc003gtu.1_Missense_Mutation_p.N151T|WDR19_uc011byi.1_5'UTR NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 151 WD 4. cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AATGCAGAAAATCTGCTTGCT 0.338 NA 14 48 0 0 0.004007 0 0 EXOC1 55763 broad.mit.edu 37 4 56724547 56724547 + Silent SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:56724547C>T uc003hbe.1 + 2 216 c.58C>T c.(58-60)CTG>TTG p.L20L EXOC1_uc003hbf.1_Silent_p.L20L|EXOC1_uc003hbg.1_Silent_p.L20L NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 20 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) TGATGAACGCCTGCTGAGCAT 0.363 NA 44 83 0 0 0.00361 0 0 REST 5978 broad.mit.edu 37 4 57797750 57797750 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:57797750T>G uc003hch.2 + 4 3073 c.2726T>G c.(2725-2727)CTT>CGT p.L909R REST_uc003hci.2_Missense_Mutation_p.L909R|REST_uc010ihf.2_Missense_Mutation_p.L583R NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 909 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) CTACCTGGTCTTGCTGCTAAT 0.428 NA 3 74 0 0 0.004672 0 0 UBA6 55236 broad.mit.edu 37 4 68506908 68506908 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:68506908G>A uc003hdg.3 - 18 1567 c.1515C>T c.(1513-1515)AAC>AAT p.N505N UBA6_uc003hdh.1_Silent_p.N31N NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 505 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 GTCTATTTAAGTTGGATTTCT 0.279 NA 69 136 0 0 0.00361 0 0 RUFY3 22902 broad.mit.edu 37 4 71665865 71665865 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:71665865A>C uc003hfr.2 + 15 2160 c.1565A>C c.(1564-1566)AAG>ACG p.K522T RUFY3_uc011cay.1_Missense_Mutation_p.K458T NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) CAGGATGGGAAGCACAAAATG 0.328 NA 9 26 0 0 0.008291 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99337939 99337939 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:99337939T>C uc003htx.3 + 8 997 c.807T>C c.(805-807)TGT>TGC p.C269C RAP1GDS1_uc003htw.3_Silent_p.C270C|RAP1GDS1_uc003htv.3_Silent_p.C270C|RAP1GDS1_uc003htz.3_Silent_p.C220C|RAP1GDS1_uc003hty.3_Silent_p.C221C|RAP1GDS1_uc003hua.3_Silent_p.C178C NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 269 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TAGTAGAGTGTCTACTAGAGA 0.363 NA T NUP98 T-ALL 24 67 0 0 0.002299 0 0 CCDC109B 55013 broad.mit.edu 37 4 110606516 110606516 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:110606516T>G uc011cfs.1 + 7 1065 c.926T>G c.(925-927)CTT>CGT p.L309R NM_017918 NP_060388 Q9NWR8 C109B_HUMAN coiled-coil domain containing 109B 309 Potential. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) AAAGAAGACCTTGCTAAGGTA 0.378 NA 12 36 0 0 0.001368 0 0 VEGFC 7424 broad.mit.edu 37 4 177605128 177605128 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr4:177605128T>G uc003ius.1 - 7 1642 c.1212A>C c.(1210-1212)GAA>GAC p.E404D NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 404 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AACGACACACTTCTTCACTAT 0.403 NA 23 84 0 0 0.00278 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422837 55422837 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:55422837T>G uc003jqu.2 - 8 861 c.709A>C c.(709-711)ATC>CTC p.I237L NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 236 ANK 7. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GCCGCTGCGATATGTACACAT 0.502 NA 46 128 0 0 0.00361 0 0 TAF9 6880 broad.mit.edu 37 5 68660800 68660800 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:68660800A>G uc003jwc.1 - 2 1097 c.765T>C c.(763-765)GAT>GAC p.D255D TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Silent_p.D255D|TAF9_uc003jwe.1_Silent_p.D255D|TAF9_uc003jwf.1_Silent_p.D255D NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 255 Poly-Asp. histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) catcatcatcatcgtcatcat 0.244 NA 4 121 0 0 0.009096 0 0 POLK 51426 broad.mit.edu 37 5 74892214 74892214 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:74892214A>G uc003kdw.2 + 13 1792 c.1696A>G c.(1696-1698)AGT>GGT p.S566G POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.S368G|POLK_uc003kec.2_Missense_Mutation_p.S476G|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.S476G NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 566 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) TCATAAGAAGAGTTTCTTTGA 0.363 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 6 76 0 0 0.001984 0 0 ERAP2 64167 broad.mit.edu 37 5 96253179 96253179 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:96253179T>G uc003kmq.2 + 19 3463 c.2753T>G c.(2752-2754)TTT>TGT p.F918C uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F918C|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F867C|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 918 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AAACTATTTTTTGAATCTCTT 0.244 NA 22 113 0 0 0.00278 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189052 140189052 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140189052T>C uc003lhi.2 + 1 2381 c.2280T>C c.(2278-2280)TCT>TCC p.S760S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S760S|PCDHA4_uc011daa.1_Silent_p.S760S NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 760 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGTGCTCTGGTGAGGGCC 0.632 NA 4 104 0 0 0.000602 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209755 140209755 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140209755G>A uc003lho.2 + 1 2106 c.2079G>A c.(2077-2079)CTG>CTA p.L693L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.L693L NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 693 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCGGCGCTGGTGGATGTCA 0.677 NA 42 31 0 0 0.007835 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529864 140529864 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:140529864A>C uc003lir.2 + 1 26 c.26A>C c.(25-27)AAG>ACG p.K9T PCDHB6_uc011dah.1_5'UTR NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 9 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTACAGAACAAGAAAAGGCAA 0.433 NA 4 159 0 0 0.009096 0 0 NMUR2 56923 broad.mit.edu 37 5 151784142 151784142 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr5:151784142G>A uc003luv.2 - 1 699 c.533C>T c.(532-534)TCC>TTC p.S178F NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 178 Helical; Name=4; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GTTGGGCAGGGAGAAGAGCAC 0.627 NA 31 77 0 0 0.007291 0 0 TDP2 51567 broad.mit.edu 37 6 24651080 24651080 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:24651080A>G uc003nej.2 - 7 1050 c.1025T>C c.(1024-1026)CTG>CCG p.L342P TDP2_uc003nei.2_Missense_Mutation_p.L230P NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 342 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 ACCACAGTCCAGTTTTTCTAA 0.403 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 22 52 0 0 0.00278 0 0 ZNF391 346157 broad.mit.edu 37 6 27368305 27368305 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:27368305A>C uc003njf.1 + 3 674 c.156A>C c.(154-156)GAA>GAC p.E52D NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 CACTCAAAGAAATTTTCACAG 0.423 NA 32 64 0 0 0.002096 0 0 PGBD1 84547 broad.mit.edu 37 6 28264604 28264604 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264604G>A uc003nky.2 + 5 1024 c.654G>A c.(652-654)AAG>AAA p.K218K PGBD1_uc003nkz.2_Silent_p.K218K NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 218 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CATTGGTGAAGACTGAGGAAG 0.463 NA 14 71 0 0 0.00245 0 0 PGBD1 84547 broad.mit.edu 37 6 28264610 28264610 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264610G>A uc003nky.2 + 5 1030 c.660G>A c.(658-660)GAG>GAA p.E220E PGBD1_uc003nkz.2_Silent_p.E220E NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 220 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGAAGACTGAGGAAGAAACAG 0.468 NA 13 68 0 0 0.001855 0 0 PGBD1 84547 broad.mit.edu 37 6 28264697 28264697 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28264697G>C uc003nky.2 + 5 1117 c.747G>C c.(745-747)GAG>GAC p.E249D PGBD1_uc003nkz.2_Missense_Mutation_p.E249D NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 249 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CAGCTCAGGAGACAGTTATGA 0.567 NA 9 47 0 0 0.004482 0 0 PGBD1 84547 broad.mit.edu 37 6 28265725 28265725 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28265725G>A uc003nky.2 + 6 1196 c.826G>A c.(826-828)GAA>AAA p.E276K PGBD1_uc003nkz.2_Missense_Mutation_p.E276K NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 276 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AGAAACTTCTGAAGAAATGGA 0.343 NA 12 63 0 0 0.000978 0 0 PGBD1 84547 broad.mit.edu 37 6 28265744 28265744 + Missense_Mutation SNP G G C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:28265744G>C uc003nky.2 + 6 1215 c.845G>C c.(844-846)GGA>GCA p.G282A PGBD1_uc003nkz.2_Missense_Mutation_p.G282A NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 282 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 GAACAAAGTGGAGAAGCCTCA 0.353 NA 13 53 0 0 0.00245 0 0 C2 717 broad.mit.edu 37 6 31912805 31912805 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:31912805A>G uc003nyf.2 + 17 2342 c.2078A>G c.(2077-2079)CAG>CGG p.Q693R C2_uc011doo.1_Missense_Mutation_p.Q447R|C2_uc011dop.1_Missense_Mutation_p.Q479R|C2_uc010jtk.2_Missense_Mutation_p.Q561R|C2_uc011doq.1_Missense_Mutation_p.Q664R|C2_uc003nyg.2_Missense_Mutation_p.Q470R|CFB_uc011dor.1_Intron|C2_uc003nyh.1_Intron|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 693 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) AGGTTTTTTCAGGTGAGAAGG 0.552 NA 3 124 0 0 0.009096 0 0 TRERF1 55809 broad.mit.edu 37 6 42231109 42231109 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:42231109G>A uc003osd.2 - 8 2396 c.1833C>T c.(1831-1833)TCC>TCT p.S611S TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.S611S NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 611 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGTCTCTGGCGGAGGGGGCGG 0.657 NA 5 82 0 0 0.000602 0 0 TTK 7272 broad.mit.edu 37 6 80723075 80723075 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr6:80723075A>C uc003pjc.2 + 9 1050 c.976A>C c.(976-978)AAT>CAT p.N326H TTK_uc003pjb.3_Missense_Mutation_p.N326H NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 326 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TGAATTAAGAAATTTAAAGGT 0.358 NA 13 151 0 0 0.003163 0 0 RBAK 57786 broad.mit.edu 37 7 5103663 5103663 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:5103663A>C uc010kss.1 + 6 900 c.576A>C c.(574-576)GAA>GAC p.E192D LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E192D NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 192 Required for interaction with RB1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ACAATGAAGAAAATATTCTTC 0.333 NA 3 68 0 0 0.004672 0 0 PCOLCE 5118 broad.mit.edu 37 7 100201142 100201142 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:100201142A>G uc003uvo.2 + 2 383 c.185A>G c.(184-186)GAG>GGG p.E62G uc011kjy.1_Intron|PCOLCE_uc011kkb.1_Missense_Mutation_p.E62G|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 62 CUB 1. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCTAATAAGGAGTGCATCTGG 0.577 NA 14 17 0 0 0.001855 0 0 MUC17 140453 broad.mit.edu 37 7 100678181 100678181 + Silent SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:100678181T>C uc003uxp.1 + 3 3537 c.3484T>C c.(3484-3486)TTA>CTA p.L1162L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1162 Extracellular (Potential).|59 X approximate tandem repeats.|17.|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) AACCACTCCGTTAGCAAGTAT 0.517 NA 82 180 0 0 0.00361 0 0 RELN 5649 broad.mit.edu 37 7 103202292 103202292 + Silent SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:103202292T>G uc003vca.2 - 35 5479 c.5319A>C c.(5317-5319)TCA>TCC p.S1773S RELN_uc010liz.2_Silent_p.S1773S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1773 EGF-like 4. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCCTCGTCCTGAGCACATCC 0.473 NSCLC(146;835 1944 15585 22231 52158) NA 15 29 0 0 0.00499 0 0 MLL5 55904 broad.mit.edu 37 7 104749673 104749673 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:104749673A>G uc003vcm.2 + 23 4287 c.3753A>G c.(3751-3753)CAA>CAG p.Q1251Q MLL5_uc010ljc.2_Silent_p.Q1251Q|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Missense_Mutation_p.N57S|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Missense_Mutation_p.N57S NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1251 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CAGAAGTTCAATGGTAAGCCC 0.398 NA 8 13 0 0 0.004482 0 0 PNPLA8 50640 broad.mit.edu 37 7 108137971 108137971 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:108137971T>G uc003vff.1 - 7 1816 c.1409A>C c.(1408-1410)AAG>ACG p.K470T PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.K470T|PNPLA8_uc003vfi.1_Missense_Mutation_p.K370T|PNPLA8_uc003vfj.1_Missense_Mutation_p.K470T|PNPLA8_uc003vfk.1_Missense_Mutation_p.K370T NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 470 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 ATGAACTGGCTTCTGAGTAAG 0.363 NA 9 44 0 0 0.006214 0 0 SSPO 23145 broad.mit.edu 37 7 149492740 149492740 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr7:149492740T>G uc010lpk.2 + 44 6520 c.6520T>G c.(6520-6522)TTG>GTG p.L2174V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2174 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCTGGCATCTTGCCCCTGCC 0.592 NA 63 111 0 0 0.00361 0 0 TUSC3 7991 broad.mit.edu 37 8 15508234 15508234 + Missense_Mutation SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:15508234G>T uc003wwt.2 + 3 547 c.337G>T c.(337-339)GCG>TCG p.A113S TUSC3_uc003wwr.2_Missense_Mutation_p.A113S|TUSC3_uc003wws.2_Missense_Mutation_p.A113S|TUSC3_uc003wwu.2_Missense_Mutation_p.A113S|TUSC3_uc003wwv.2_Missense_Mutation_p.A113S|TUSC3_uc003www.2_Missense_Mutation_p.A113S|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A113S NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 113 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) TCAAATACTGGCGAACTCCTG 0.393 NA 56 128 2.47907e-22 2.66086e-22 0.00361 1 0 MTMR7 9108 broad.mit.edu 37 8 17188790 17188790 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:17188790A>C uc003wxm.2 - 7 973 c.734T>G c.(733-735)CTT>CGT p.L245R MTMR7_uc003wxn.2_Missense_Mutation_p.L24R NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 245 Myotubularin phosphatase. protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) CATTGCATTAAGCTGCAGTGG 0.378 NA 22 29 0 0 0.001882 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20062036 20062036 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:20062036T>G uc003wzp.2 + 2 392 c.178T>G c.(178-180)TTA>GTA p.L60V NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 60 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) ACTAGTGATCTTAGATCATGT 0.313 Pancreas(119;1230 1726 3901 4036 31644) NA 14 55 0 0 0.007413 0 0 UBR5 51366 broad.mit.edu 37 8 103324705 103324705 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr8:103324705T>G uc003ykr.1 - 17 2049 c.2016A>C c.(2014-2016)AAA>AAC p.K672N UBR5_uc003yks.1_Missense_Mutation_p.K672N NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 672 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CACCATCTACTTTTAGCACCT 0.368 Ovarian(131;96 1741 5634 7352 27489) NA 35 73 0 0 0.002522 0 0 GALNT12 79695 broad.mit.edu 37 9 101594148 101594148 + Missense_Mutation SNP A A C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:101594148A>C uc004ayz.2 + 4 826 c.826A>C c.(826-828)ATC>CTC p.I276L NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 276 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) GGAGCCCCAGATCGGCGGTTT 0.577 NA 7 13 0 0 0.00308 0 0 ASB6 140459 broad.mit.edu 37 9 132402830 132402830 + Silent SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:132402830G>A uc004byf.1 - 2 451 c.285C>T c.(283-285)CTC>CTT p.L95L ASB6_uc004bye.1_Silent_p.L20L|ASB6_uc004byg.1_Silent_p.L95L|ASB6_uc011mbt.1_Intron|ASB6_uc010myx.1_Silent_p.L95L NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box-containing 6 isoform 95 ANK 1. intracellular signal transduction cytoplasm 0 Ovarian(14;0.00556) CTTCAAAGTTGAGATTGGCCC 0.652 NA 12 19 0 0 0.003163 0 0 FUT7 2529 broad.mit.edu 37 9 139925457 139925457 + Missense_Mutation SNP G G A TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:139925457G>A uc004ckq.2 - 2 1583 c.734C>T c.(733-735)GCA>GTA p.A245V ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN fucosyltransferase 7 245 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGCCACCAGTGCGTTGCGCCA 0.627 NA 34 87 0 0 0.003271 0 0 CACNA1B 774 broad.mit.edu 37 9 140811791 140811791 + Missense_Mutation SNP T T G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr9:140811791T>G uc004cog.2 + 6 1019 c.874T>G c.(874-876)TTT>GTT p.F292V NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 292 I.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGACCCAACTTTGGCATCAC 0.582 NA 14 62 0 0 0.001855 0 0 BCOR 54880 broad.mit.edu 37 X 39921444 39921444 + Missense_Mutation SNP T T C TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:39921444T>C uc004den.3 - 10 4668 c.4376A>G c.(4375-4377)AAT>AGT p.N1459S BCOR_uc004dep.3_Missense_Mutation_p.N1425S|BCOR_uc004deo.3_Missense_Mutation_p.N1407S|BCOR_uc010nhb.2_Missense_Mutation_p.N167S|BCOR_uc004dem.3_Missense_Mutation_p.N1425S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1459 N -> S (in Ref. 6; BAA91061). 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 AGCGTTCTTATTGACAATAAG 0.647 NA 7 14 0 0 0.001984 0 0 ZXDA 7789 broad.mit.edu 37 X 57935082 57935082 + Silent SNP G G T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:57935082G>T uc004dve.2 - 1 1986 c.1773C>A c.(1771-1773)ACC>ACA p.T591T NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 591 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GTCTCTGGCTGGTAAGTTCAC 0.473 NA 24 75 2.79863e-10 2.94497e-10 0.004656 1 0 ATRX 546 broad.mit.edu 37 X 76872168 76872168 + Silent SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:76872168A>G uc004ecp.3 - 22 5711 c.5479T>C c.(5479-5481)TTG>CTG p.L1827L ATRX_uc004ecq.3_Silent_p.L1789L|ATRX_uc004eco.3_Silent_p.L1612L NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1827 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) TTTGGAGGCAAGAATTTTGTT 0.313 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 5 79 0 0 0.000602 0 0 UTP14A 10813 broad.mit.edu 37 X 129059058 129059058 + Missense_Mutation SNP C C T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:129059058C>T uc004euz.2 + 12 1664 c.1636C>T c.(1636-1638)CCT>TCT p.P546S UTP14A_uc011mup.1_Missense_Mutation_p.P494S|UTP14A_uc011muq.1_Missense_Mutation_p.P492S NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 546 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AAATAATCGCCCTGATGCCCC 0.478 NA 19 97 0 0 0.010504 0 0 RENBP 5973 broad.mit.edu 37 X 153209152 153209152 + Missense_Mutation SNP C C A rs34430440 byFrequency TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chrX:153209152C>A uc004fjo.1 - 5 478 c.308G>T c.(307-309)CGG>CTG p.R103L RENBP_uc011mzh.1_Missense_Mutation_p.R103L NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 103 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) CCGGGCATACCGCAGCAAGAA 0.632 NA 23 53 1.1804e-14 1.25857e-14 0.003954 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr1:74575212_74575213insT uc001dfy.3 - 5 924_925 c.732_733insA c.(730-735)AAACAGfs p.K244fs LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 244_245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). ovary(2) 2 TTTTCCTGCTGTTTTTTTTTGT 0.327 NA 8 90 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 CAC CAC - - CAC CAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr16:18441114_18441116delCAC uc010bvw.2 - 7 1784 c.1128_splice c.e7+1 p.V376_splice SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1; NA CGGCCATACTCACCACTGGGACT 0.709 NA 6 13 --- --- --- --- NA NA NA NA NA AKAP8L 26993 broad.mit.edu 37 19 15491175 15491175 + Frame_Shift_Del DEL G G - TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr19:15491175delG uc002naw.1 - 14 1798 c.1699delC c.(1699-1701)CTGfs p.L567fs AKAP8_uc002nav.2_5'Flank|AKAP8_uc010xog.1_5'Flank|AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Frame_Shift_Del_p.L506fs NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 567 EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048). cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 CCCTCGTCCAGGGCACCGCCC 0.741 NA 2 4 --- --- --- --- NA NA NA NA NA CCDC108 255101 broad.mit.edu 37 2 219900304 219900305 + In_Frame_Ins INS - - CCT TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 68c2a355-862c-4657-b296-5776ed8447b0 1d5b64bd-f901-4f03-95c8-db234cd459fd g.chr2:219900304_219900305insCCT uc002vjl.1 - 5 523_524 c.439_440insAGG c.(439-441)GTG>GAGGTG p.146_147insE CCDC108_uc010zkp.1_In_Frame_Ins_p.135_136insE|CCDC108_uc010zkq.1_In_Frame_Ins_p.81_82insE|CCDC108_uc002vjn.2_In_Frame_Ins_p.81_82insE NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 146_147 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCTCAGCCACCTCAATGCCC 0.525 NA 40 93 --- --- --- --- NA NA NA NA NA