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 SLC25A34 284723 broad.mit.edu 37 1 16065758 16065758 + Missense_Mutation SNP A A G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr1:16065758A>G uc001axb.1 + 5 944 c.772A>G c.(772-774)ATC>GTC p.I258V SLC25A34_uc009vok.1_RNA NM_207348 NP_997231 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 258 Solcar 3. transport integral to membrane|mitochondrial inner membrane 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CATGGTGAAGATCTGGCGGCA 0.657 NA 11 58 0 0 0.000978159 0 0 CEPT1 10390 broad.mit.edu 37 1 111726191 111726191 + Missense_Mutation SNP T T G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr1:111726191T>G uc001eah.1 + 8 1321 c.1113T>G c.(1111-1113)ATT>ATG p.I371M CEPT1_uc001eai.1_Missense_Mutation_p.I371M|CEPT1_uc001eaj.1_Missense_Mutation_p.I371M|CEPT1_uc009wfz.1_Missense_Mutation_p.I105M NM_001007794 NP_001007795 Q9Y6K0 CEPT1_HUMAN choline/ethanolaminephosphotransferase 371 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding 0 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) ATGAATATATTGTACTTTGGA 0.363 NA 8 82 0 0 0.000274275 0 0 FCAMR 83953 broad.mit.edu 37 1 207135834 207135834 + Nonsense_Mutation SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr1:207135834G>A uc001hfa.3 - 5 876 c.376C>T c.(376-378)CAG>TAG p.Q126* FCAMR_uc001hfb.2_Nonsense_Mutation_p.Q126*|FCAMR_uc009xca.1_Nonsense_Mutation_p.Q126*|FCAMR_uc001hfc.2_Nonsense_Mutation_p.Q101* NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 81 Mediates immunoglobulin Fc fragment- binding (By similarity).|Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity ovary(1) 1 TAATGGCACTGGATGGTGACA 0.557 Ovarian(199;1883 2142 16966 44409 45154) NA 6 24 0 0 0.00116845 0 0 C10orf28 27291 broad.mit.edu 37 10 99968660 99968660 + Silent SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr10:99968660C>T uc001kow.3 + 4 1084 c.789C>T c.(787-789)GGC>GGT p.G263G C10orf28_uc001kox.3_Silent_p.G263G|C10orf28_uc001koy.3_Silent_p.G263G|C10orf28_uc009xvx.2_Silent_p.G263G|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 263 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) GCAGCGGAGGCATCACCACTA 0.403 NA 5 64 0 0 0.00116845 0 0 FAM178A 55719 broad.mit.edu 37 10 102697161 102697161 + Missense_Mutation SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr10:102697161G>A uc001krt.3 + 10 2981 c.2439G>A c.(2437-2439)ATG>ATA p.M813I FAM178A_uc001krs.2_Missense_Mutation_p.M813I NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 813 0 TTTGACAGATGATGTCAGTTC 0.279 NA 8 158 0 0 0.000157383 0 0 OR51A7 119687 broad.mit.edu 37 11 4929446 4929446 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr11:4929446C>T uc010qyq.1 + 1 847 c.847C>T c.(847-849)CCG>TCG p.P283S NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGTTGGTGCCGCCCCTTAT 0.458 NA 21 123 0 0 0.000295444 0 0 AHNAK 79026 broad.mit.edu 37 11 62295599 62295599 + Missense_Mutation SNP T T C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr11:62295599T>C uc001ntl.2 - 5 6590 c.6290A>G c.(6289-6291)GAA>GGA p.E2097G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2097 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAGCTTCCCTTCTGGACCTTC 0.532 NA 5 329 0 0 0.000602214 0 0 KCNH3 23416 broad.mit.edu 37 12 49950989 49950989 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr12:49950989C>T uc001ruh.1 + 14 2859 c.2599C>T c.(2599-2601)CAT>TAT p.H867Y KCNH3_uc010smj.1_Missense_Mutation_p.H807Y NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 867 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CACTGTTCCCCATGGGCCCAG 0.627 NA 17 49 0 0 0.000566183 0 0 SLC17A8 246213 broad.mit.edu 37 12 100811839 100811839 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr12:100811839C>T uc010svi.1 + 11 1643 c.1330C>T c.(1330-1332)CGC>TGC p.R444C SLC17A8_uc009ztx.2_Missense_Mutation_p.R394C NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 444 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 CATTGCCCCACGCTATGCCAG 0.458 NA 9 120 0 0 0.000978159 0 0 SACS 26278 broad.mit.edu 37 13 23910594 23910594 + Missense_Mutation SNP A A T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr13:23910594A>T uc001uon.2 - 10 8010 c.7421T>A c.(7420-7422)ATA>AAA p.I2474K SACS_uc001uoo.2_Missense_Mutation_p.I2327K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2474 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTTTACTTTTATCCAAGGGCA 0.378 NA 14 81 0 0 0.000219431 0 0 HCN4 10021 broad.mit.edu 37 15 73617439 73617439 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr15:73617439C>T uc002avp.2 - 6 2829 c.1835G>A c.(1834-1836)CGT>CAT p.R612H NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 612 Cytoplasmic (Potential).|cAMP. blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GACCTCGAAACGCAGCTTGGT 0.552 NA 15 96 0 0 0.000566183 0 0 IL16 3603 broad.mit.edu 37 15 81575076 81575076 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr15:81575076C>T uc002bgh.3 + 9 1554 c.1178C>T c.(1177-1179)GCG>GTG p.A393V IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A393V|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A435V|IL16_uc002bgg.2_Missense_Mutation_p.A393V|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 393 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GGATCCGTGGCGCACCTGGAC 0.557 NA 23 228 0 0 0.000878237 0 0 PDILT 204474 broad.mit.edu 37 16 20384335 20384335 + Missense_Mutation SNP T T C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr16:20384335T>C uc002dhc.1 - 6 1014 c.791A>G c.(790-792)GAG>GGG p.E264G NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 264 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CTCACTGACCTCAGTGTTGTA 0.443 NA 6 98 0 0 0.00116845 0 0 WRAP53 55135 broad.mit.edu 37 17 7593016 7593016 + Silent SNP A A G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr17:7593016A>G uc010vuh.1 + 4 794 c.639A>G c.(637-639)GAA>GAG p.E213E WRAP53_uc010vui.1_Silent_p.E213E|WRAP53_uc002gip.2_Silent_p.E213E|WRAP53_uc002gir.2_Silent_p.E213E|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.E180E|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 213 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 AATATGCAGAAATGGTAAGGA 0.463 NA 10 36 0 0 0.000442599 0 0 NSF 4905 broad.mit.edu 37 17 44788352 44788352 + Missense_Mutation SNP T T G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr17:44788352T>G uc002iku.2 + 14 1598 c.1494T>G c.(1492-1494)GAT>GAG p.D498E NSF_uc010wke.1_Missense_Mutation_p.D404E|NSF_uc010wkf.1_Missense_Mutation_p.D404E|NSF_uc010wkg.1_Missense_Mutation_p.D493E NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 498 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) ACCAAGAAGATTATGCAAGTT 0.398 Ovarian(25;472 742 1472 36813 50223) NA 5 79 0 0 0.000602214 0 0 DSC3 1825 broad.mit.edu 37 18 28604352 28604352 + Silent SNP T T G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr18:28604352T>G uc002kwj.3 - 6 893 c.738A>C c.(736-738)GCA>GCC p.A246A DSC3_uc002kwi.3_Silent_p.A246A NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 246 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) AATTATAAATTGCTTCTGTGA 0.368 NA 6 33 0 0 0.000157383 0 0 UNC13A 23025 broad.mit.edu 37 19 17750669 17750669 + Missense_Mutation SNP T T C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr19:17750669T>C uc002nhd.2 - 23 3100 c.3100A>G c.(3100-3102)ATT>GTT p.I1034V NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 946 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GAGAGGTCAATCCGCAGGGAG 0.577 NA 12 49 0 0 0.000308642 0 0 PRODH2 58510 broad.mit.edu 37 19 36297459 36297459 + Missense_Mutation SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr19:36297459G>A uc002obx.1 - 8 1120 c.1102C>T c.(1102-1104)CAC>TAC p.H368Y NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 368 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCGGCCCTGTGCGCAGCCTCT 0.637 NA 8 203 0 0 0.000274275 0 0 CD33 945 broad.mit.edu 37 19 51729239 51729239 + Missense_Mutation SNP C C G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr19:51729239C>G uc002pwa.2 + 3 639 c.599C>G c.(598-600)ACC>AGC p.T200S CD33_uc010eos.1_Missense_Mutation_p.T200S|CD33_uc010eot.1_Missense_Mutation_p.T73S|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 200 Extracellular (Potential).|Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CTCATAATCACCCCACGGCCC 0.617 NA 4 87 0 0 0.00024832 0 0 MTIF2 4528 broad.mit.edu 37 2 55481241 55481241 + Missense_Mutation SNP A A C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr2:55481241A>C uc002ryn.2 - 8 1337 c.600T>G c.(598-600)TTT>TTG p.F200L MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.F200L NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 200 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 GAGTTTTTCGAAATTTGTCAA 0.453 NA 5 58 0 0 0.000602214 0 0 GLI2 2736 broad.mit.edu 37 2 121736058 121736058 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr2:121736058C>T uc010flp.2 + 9 1447 c.1417C>T c.(1417-1419)CGC>TGC p.R473C GLI2_uc002tmq.1_Missense_Mutation_p.R145C|GLI2_uc002tmr.1_Missense_Mutation_p.R128C|GLI2_uc002tmt.3_Missense_Mutation_p.R145C|GLI2_uc002tmu.3_Missense_Mutation_p.R128C|GLI2_uc002tmw.1_Missense_Mutation_p.R456C NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 473 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GTTTGTGTGCCGCTGGCAGGC 0.627 NA 7 184 0 0 0.000978159 0 0 TTN 7273 broad.mit.edu 37 2 179459289 179459289 + Missense_Mutation SNP T T C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr2:179459289T>C uc010zfg.1 - 245 50452 c.50228A>G c.(50227-50229)GAT>GGT p.D16743G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10438G|TTN_uc010zfi.1_Missense_Mutation_p.D10371G|TTN_uc010zfj.1_Missense_Mutation_p.D10246G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17670 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) TGACCCACCATCATACTTAGG 0.388 NA 3 116 0 0 6.4e-05 0 0 GIGYF2 26058 broad.mit.edu 37 2 233715054 233715054 + Missense_Mutation SNP A A G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr2:233715054A>G uc002vti.3 + 30 4104 c.3767A>G c.(3766-3768)GAG>GGG p.E1256G GIGYF2_uc002vtj.3_Missense_Mutation_p.E1277G|GIGYF2_uc002vtk.3_Missense_Mutation_p.E1256G|GIGYF2_uc002vth.3_Missense_Mutation_p.E1250G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.E589G NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 1256 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TCCAATTTTGAGGCTGTGCAG 0.463 NA 3 70 0 0 0.00024832 0 0 FRG1B 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr20:29625905T>C uc010ztl.1 + 2 91 c.59T>C c.(58-60)CTT>CCT p.L20P FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGAAAATATCTTGGTATAAAT 0.333 NA 6 67 0 0 8.12818e-05 0 0 BPIL1 80341 broad.mit.edu 37 20 31604887 31604887 + Missense_Mutation SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr20:31604887G>A uc002wyj.2 + 7 750 c.556G>A c.(556-558)GTC>ATC p.V186I NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 186 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 GGGTGTCAATGTCCACCTGGG 0.622 NA 27 125 0 0 0.00106085 0 0 POTEH 23784 broad.mit.edu 37 22 16287673 16287673 + Missense_Mutation SNP C C G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr22:16287673C>G uc010gqp.2 - 1 265 c.213G>C c.(211-213)TGG>TGC p.W71C POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 71 skin(1) 1 TCCCCCTGCACCAGGGGAAGC 0.582 NA 5 560 0 0 0.000602214 0 0 LZTR1 8216 broad.mit.edu 37 22 21340175 21340175 + Silent SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr22:21340175C>T uc002zto.2 + 3 412 c.309C>T c.(307-309)TGC>TGT p.C103C LZTR1_uc002ztn.2_Silent_p.C62C|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 103 Kelch 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGAAAGACTGCTCCTGGTGCA 0.592 NA 8 45 0 0 0.000442599 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658152 46658152 + Silent SNP C C G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr22:46658152C>G uc003bhh.2 - 1 1068 c.1068G>C c.(1066-1068)CTG>CTC p.L356L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 356 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGGACCCGTCCAGAATCAGCT 0.557 NA 17 104 0 0 0.000958276 0 0 SETD5 55209 broad.mit.edu 37 3 9477424 9477424 + Missense_Mutation SNP G G C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr3:9477424G>C uc003brt.2 + 7 836 c.401G>C c.(400-402)AGT>ACT p.S134T SETD5_uc003brs.1_Missense_Mutation_p.S115T|SETD5_uc003bru.2_Missense_Mutation_p.S23T|SETD5_uc003brv.2_Missense_Mutation_p.S23T NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 134 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGGGATAGCAGTGCAACAGAA 0.423 NA 5 12 0 0 0.00116845 0 0 PIGG 54872 broad.mit.edu 37 4 502694 502694 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr4:502694C>T uc003gak.3 + 5 972 c.836C>T c.(835-837)GCC>GTC p.A279V PIGG_uc003gaj.3_Missense_Mutation_p.A279V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A146V|PIGG_uc003gal.3_Missense_Mutation_p.A190V|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.A157V|PIGG_uc003gam.2_Missense_Mutation_p.A190V|PIGG_uc003gan.2_Missense_Mutation_p.A190V NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 279 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 AGTCACGGGGCCTCCTCCACC 0.443 NA 12 73 0 0 0.00136819 0 0 LETM1 3954 broad.mit.edu 37 4 1843351 1843351 + Missense_Mutation SNP C C T rs138076114 TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr4:1843351C>T uc003gdv.2 - 3 614 c.317G>A c.(316-318)CGT>CAT p.R106H LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.R106H NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 106 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GTGCCAGCCACGCACAGGAAG 0.597 NA 10 94 0 0 0.000673444 0 0 PHF15 23338 broad.mit.edu 37 5 133873705 133873705 + Silent SNP A A C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr5:133873705A>C uc003kzo.1 + 3 264 c.85A>C c.(85-87)AGA>CGA p.R29R PHF15_uc011cxt.1_Silent_p.R29R|PHF15_uc003kzk.2_Silent_p.R45R|PHF15_uc003kzl.2_Silent_p.R29R|PHF15_uc003kzm.2_Silent_p.R29R|PHF15_uc003kzn.2_Silent_p.R29R NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 29 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCCGCATCAAGATGCTCCAA 0.537 NA 10 66 0 0 0.000673444 0 0 SLIT3 6586 broad.mit.edu 37 5 168134994 168134994 + Missense_Mutation SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr5:168134994G>A uc003mab.2 - 26 3251 c.2831C>T c.(2830-2832)CCC>CTC p.P944L SLIT3_uc010jjg.2_Missense_Mutation_p.P951L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 944 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTAGCTGTAGGGGCAGGCACA 0.612 Ovarian(29;311 847 10864 17279 24903) NA 7 45 0 0 0.000157383 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179321595 179321595 + Missense_Mutation SNP T T C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr5:179321595T>C uc003mlh.2 - 4 405 c.368A>G c.(367-369)AAC>AGC p.N123S TBC1D9B_uc003mli.2_Missense_Mutation_p.N123S|TBC1D9B_uc003mlj.2_Missense_Mutation_p.N123S NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 123 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGTTCTTGTTCTCTTCTGC 0.602 NA 4 64 0 0 0.000602214 0 0 ZFP57 346171 broad.mit.edu 37 6 29640722 29640722 + Missense_Mutation SNP C C A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr6:29640722C>A uc011dlw.1 - 4 1317 c.1166G>T c.(1165-1167)TGT>TTT p.C389F ZFP57_uc003nnl.3_Missense_Mutation_p.C369F NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 305 C2H2-type 5. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 AGTCAAAGAACAATGGGGGCA 0.517 NA 79 278 1.7488e-33 9.98404e-33 0.000781405 1 0 GPR6 2830 broad.mit.edu 37 6 110300677 110300677 + Missense_Mutation SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr6:110300677C>T uc011eaw.1 + 2 542 c.362C>T c.(361-363)GCG>GTG p.A121V GPR6_uc011eav.1_Missense_Mutation_p.A136V|GPR6_uc003ptu.2_Missense_Mutation_p.A121V NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 121 Helical; Name=2; (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GACCTGTTGGCGGGCTGTGGC 0.652 NA 30 116 0 0 0.00178596 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119449 83119449 + Missense_Mutation SNP A A T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr7:83119449A>T uc003uhy.1 - 2 723 c.257T>A c.(256-258)ATC>AAC p.I86N NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 86 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GCCGTCACTGATTCTCTCCAA 0.388 NA 3 19 0 0 0.00024832 0 0 ZNF212 7988 broad.mit.edu 37 7 148947288 148947288 + Silent SNP C C G TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr7:148947288C>G uc003wfp.2 + 2 159 c.63C>G c.(61-63)TCC>TCG p.S21S NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TAACTTCTTCCACACTTCCTT 0.458 NA 8 75 0 0 0.000157383 0 0 ASB10 136371 broad.mit.edu 37 7 150878359 150878359 + Silent SNP G G A TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr7:150878359G>A uc003wjm.1 - 3 1032 c.906C>T c.(904-906)GAC>GAT p.D302D ASB10_uc003wjl.1_Silent_p.D302D|ASB10_uc003wjn.1_Silent_p.D242D NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 257 ANK 5. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCAGCGGACGTCACAGGCAG 0.652 NA 6 35 0 0 8.12818e-05 0 0 KCNB2 9312 broad.mit.edu 37 8 73848601 73848601 + Missense_Mutation SNP G G C TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr8:73848601G>C uc003xzb.2 + 3 1599 c.1011G>C c.(1009-1011)TTG>TTC p.L337F NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 337 Helical; Name=Segment S5; (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AATTGGGCTTGTTGATATTGT 0.473 NA 7 136 0 0 8.12818e-05 0 0 A1CF 29974 broad.mit.edu 37 10 52573648 52573648 + Frame_Shift_Del DEL A A - rs140399088 TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr10:52573648delA uc001jjj.2 - 10 1504 c.1316delT c.(1315-1317)TTAfs p.L439fs A1CF_uc010qhn.1_Frame_Shift_Del_p.L439fs|A1CF_uc001jji.2_Frame_Shift_Del_p.L431fs|A1CF_uc001jjh.2_Frame_Shift_Del_p.L439fs|A1CF_uc010qho.1_Frame_Shift_Del_p.L447fs|A1CF_uc009xov.2_Frame_Shift_Del_p.L431fs NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 439 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TTGGGGTTTTAATGTGACAGG 0.418 NA 19 106 --- --- --- --- NA NA NA NA NA SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + Splice_Site DEL GT GT - TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr11:14276276_14276277delGT uc001mle.2 + 9 1630 c.1092_splice c.e9+1 p.E364_splice NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 NA 7 64 --- --- --- --- NA NA NA NA NA CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr20:56099187delT uc010gix.1 - 1 737 c.75delA c.(73-75)AAAfs p.K25fs CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 NA 9 505 --- --- --- --- NA NA NA NA NA FAT2 2196 broad.mit.edu 37 5 150947463 150947463 + Frame_Shift_Del DEL A A - TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr5:150947463delA uc003lue.3 - 1 1043 c.1030delT c.(1030-1032)TATfs p.Y344fs GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Frame_Shift_Del_p.Y344fs NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 344 Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTGGGAATAAAAATAAGGG 0.498 NA 19 189 --- --- --- --- NA NA NA NA NA ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 GCA GCA - - GCA GCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d44bbc31-efda-4b1d-804f-9dc9ba1684ee bef20a84-615a-481d-a608-fe9071ab24e7 g.chr8:28209226_28209228delGCA uc003xgq.2 - 7 1105_1107 c.1017_1019delTGC c.(1015-1020)GCTGCC>GCC p.339_340AA>A ZNF395_uc003xgt.2_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.2_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.2_In_Frame_Del_p.339_340AA>A NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339_340 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.507 NA 7 167 --- --- --- --- NA NA NA NA NA