Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ZMYM1 79830 broad.mit.edu 37 1 35579714 35579714 + Silent SNP A A C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:35579714A>C uc001bym.2 + 11 2431 c.2283A>C c.(2281-2283)GTA>GTC p.V761V ZMYM1_uc001byn.2_Silent_p.V761V|ZMYM1_uc010ohu.1_Silent_p.V742V|ZMYM1_uc001byo.2_Silent_p.V401V|ZMYM1_uc009vut.2_Silent_p.V686V NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 761 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTAAAGAAGTAAAAGAACTCC 0.318 NaN 0 0 0 0.010729 0 12 34 HECTD3 79654 broad.mit.edu 37 1 45475257 45475257 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:45475257C>T uc009vxk.2 - 5 956 c.858G>A c.(856-858)AAG>AAA p.K286K HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Silent_p.K2K|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 286 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) TGGTGCCCTTCTTCATAGTAA 0.542 NaN 0 0 0 0.038395 0 18 88 KCNA2 3737 broad.mit.edu 37 1 111147111 111147111 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:111147111C>T uc001dzu.2 - 2 790 c.294G>A c.(292-294)TTG>TTA p.L98L KCNA2_uc009wfv.1_Silent_p.L98L|KCNA2_uc009wfw.2_Silent_p.L98L NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 98 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CAGGTCGCCTCAATCGGCCCC 0.473 NaN 0 0 0 0.049695 0 21 65 HMCN1 83872 broad.mit.edu 37 1 186107047 186107047 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:186107047C>T uc001grq.1 + 89 14096 c.13867C>T c.(13867-13869)CGG>TGG p.R4623W HMCN1_uc001grs.1_Missense_Mutation_p.R192W NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4623 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GCATGGTGGGCGGCCATGTGA 0.468 NaN 0 0 0 0.038395 0 19 92 GALNT2 2590 broad.mit.edu 37 1 230391013 230391013 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr1:230391013G>A uc010pwa.1 + 11 1131 c.1059G>A c.(1057-1059)CCG>CCA p.P353P GALNT2_uc010pvy.1_Silent_p.P315P|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 353 Lumenal (Potential).|Catalytic subdomain B. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AGATCATCCCGTGCAGCCGTG 0.607 NaN 0 0 0 0.038395 0 18 103 C11orf16 56673 broad.mit.edu 37 11 8947080 8947080 + Silent SNP C C T rs146836226 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:8947080C>T uc001mhb.3 - 5 1258 c.1134G>A c.(1132-1134)CAG>CAA p.Q378Q C11orf16_uc001mhc.3_Silent_p.Q378Q NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 378 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGAGGCCACTCTGTCTCAGAG 0.547 NaN 0 0 0 0.043863 0 18 78 NADSYN1 55191 broad.mit.edu 37 11 71195380 71195380 + Missense_Mutation SNP G G T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:71195380G>T uc001oqn.2 + 15 1468 c.1342G>T c.(1342-1344)GAT>TAT p.D448Y NADSYN1_uc001oqo.2_Missense_Mutation_p.D188Y|NADSYN1_uc001oqp.2_Missense_Mutation_p.D77Y NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 448 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTCAACATCGATCCAGCCGT 0.582 NaN 1 0 1.08611e-07 0.010729 1.14562e-07 9 54 CCDC82 79780 broad.mit.edu 37 11 96117437 96117437 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:96117437C>A uc009ywp.2 - 1 718 c.475G>T c.(475-477)GAT>TAT p.D159Y CCDC82_uc009ywq.2_Missense_Mutation_p.D159Y|CCDC82_uc001pfx.3_Missense_Mutation_p.D159Y|CCDC82_uc009ywr.2_Missense_Mutation_p.D159Y|CCDC82_uc009yws.2_Missense_Mutation_p.D159Y NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 159 protein binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TTGTTGAGATCATTATCCTCT 0.343 NaN 1 0 6.36457e-07 0.021523 6.6226e-07 27 107 HDAC7 51564 broad.mit.edu 37 12 48177866 48177866 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr12:48177866C>T uc010slo.1 - 25 3121 c.2926G>A c.(2926-2928)GAT>AAT p.D976N HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.D410N|HDAC7_uc001rqj.3_Missense_Mutation_p.D939N|HDAC7_uc001rqk.3_Missense_Mutation_p.D959N NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 937 Interaction with SIN3A (By similarity).|Nuclear export signal (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CATTACCTATCTTCAGCCAGG 0.627 NaN 0 0 0 0.038147 0 7 44 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493 NaN 0 0 0 0.048971 0 19 173 OR4N5 390437 broad.mit.edu 37 14 20612277 20612277 + Missense_Mutation SNP G G A rs139546094 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr14:20612277G>A uc010tla.1 + 1 383 c.383G>A c.(382-384)CGG>CAG p.R128Q NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCCATCTGCCGGCCTTTACAC 0.488 NaN 0 0 0 0.074837 0 38 199 BAZ1A 11177 broad.mit.edu 37 14 35234031 35234031 + Missense_Mutation SNP C C G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr14:35234031C>G uc001wsk.2 - 23 4226 c.3658G>C c.(3658-3660)GAC>CAC p.D1220H BAZ1A_uc001wsl.2_Missense_Mutation_p.D1188H NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1220 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CCCATACTGTCTTCCACATCT 0.264 NaN 0 0 0 0.028581 0 16 121 EHD4 30844 broad.mit.edu 37 15 42193059 42193059 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr15:42193059G>A uc001zot.2 - 6 1473 c.1410C>T c.(1408-1410)GCC>GCT p.A470A NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 470 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TCTCCTTCTTGGCGTTGACAC 0.582 NaN 0 0 0 0.020292 0 14 59 MBD1 4152 broad.mit.edu 37 18 47800573 47800573 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr18:47800573A>G uc010dow.1 - 11 1566 c.1129T>C c.(1129-1131)TGC>CGC p.C377R MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.C327R|MBD1_uc010xdi.1_Missense_Mutation_p.C428R|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.C377R|MBD1_uc002lei.3_Missense_Mutation_p.C377R|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.C328R|MBD1_uc002lel.3_Missense_Mutation_p.C354R|MBD1_uc002lem.3_Missense_Mutation_p.C377R|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.C402R|MBD1_uc010dox.1_Missense_Mutation_p.C354R|MBD1_uc002leo.2_Missense_Mutation_p.C377R NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 377 CXXC-type 3. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AACTGCAGGCATTGGCGCCAA 0.642 NaN 0 0 0 0.045705 0 29 105 ZNF799 90576 broad.mit.edu 37 19 12491949 12491949 + Missense_Mutation SNP T T C rs11668955 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:12491949T>C uc002mts.3 - 4 593 c.127A>G c.(127-129)ACC>GCC p.T43A Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TAACTGAAGGTTTTCCAAAAT 0.403 NaN 0 0 0 0.004672 0 3 26 ZNF799 90576 broad.mit.edu 37 19 12491955 12491955 + Missense_Mutation SNP A A C rs11668074 by1000genomes TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:12491955A>C uc002mts.3 - 4 587 c.121T>G c.(121-123)TGG>GGG p.W41G Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 AAGGTTTTCCAAAATTGTTTA 0.408 NaN 0 0 0 0.004672 0 3 26 ZNF536 9745 broad.mit.edu 37 19 30935717 30935717 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:30935717C>T uc002nsu.1 + 2 1386 c.1248C>T c.(1246-1248)GGC>GGT p.G416G ZNF536_uc010edd.1_Silent_p.G416G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGCCCATGGGCGGCATGTCCC 0.627 NaN 0 0 0 0.016723 0 14 65 SPIB 6689 broad.mit.edu 37 19 50927009 50927009 + Missense_Mutation SNP G G T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:50927009G>T uc002psd.2 + 5 512 c.487G>T c.(487-489)GCA>TCA p.A163S SPIB_uc002pse.2_Splice_Site_p.E162_splice|SPIB_uc010ycc.1_Missense_Mutation_p.A72S NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 163 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GGGATCCGAGGCAGGTATGCG 0.647 NaN 1 0 0.00116845 0.021553 0.00118382 6 12 CEACAM18 729767 broad.mit.edu 37 19 51984784 51984784 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr19:51984784C>T uc002pwv.1 + 4 721 c.721C>T c.(721-723)CGG>TGG p.R241W NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 241 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TAGTAGTGACCGGATGACAAT 0.502 NaN 0 0 0 0.024245 0 13 48 NBAS 51594 broad.mit.edu 37 2 15542413 15542413 + Missense_Mutation SNP T T C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:15542413T>C uc002rcc.1 - 26 2976 c.2950A>G c.(2950-2952)ATT>GTT p.I984V NBAS_uc010exl.1_Missense_Mutation_p.I56V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 984 ovary(2)|liver(1)|skin(1) 4 TCAGGAATAATTTTTTGCTGC 0.348 NaN 0 0 0 0.021553 0 6 66 SMEK2 57223 broad.mit.edu 37 2 55792049 55792049 + Missense_Mutation SNP C C G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:55792049C>G uc002rzc.2 - 14 2439 c.2064G>C c.(2062-2064)CAG>CAC p.Q688H SMEK2_uc002rzb.2_Missense_Mutation_p.Q603H|SMEK2_uc002rzd.2_Missense_Mutation_p.Q656H|SMEK2_uc002ryz.2_Missense_Mutation_p.Q122H|SMEK2_uc002rza.2_Missense_Mutation_p.Q479H NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 688 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGTTCAGTTTCTGATTTTGTC 0.308 NaN 0 0 0 0.038147 0 8 37 CNTNAP5 129684 broad.mit.edu 37 2 125521571 125521571 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr2:125521571G>A uc002tno.2 + 16 2741 c.2377G>A c.(2377-2379)GTC>ATC p.V793I CNTNAP5_uc010flu.2_Missense_Mutation_p.V794I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 793 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTGGAACGCCGTCTCATTTTA 0.428 NaN 0 0 0 0.010729 0 10 81 FLRT3 23767 broad.mit.edu 37 20 14306771 14306771 + Missense_Mutation SNP C C T rs147588771 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr20:14306771C>T uc002wov.1 - 3 1849 c.1382G>A c.(1381-1383)CGC>CAC p.R461H MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R461H NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 461 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GTACTCACTGCGTTCCCCTGT 0.463 NaN 0 0 0 0.010729 0 12 147 MN1 4330 broad.mit.edu 37 22 28195117 28195117 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr22:28195117G>A uc003adj.2 - 1 2370 c.1415C>T c.(1414-1416)TCG>TTG p.S472L NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 472 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GCCGTTCCACGAAGCGCAGCG 0.662 NaN T ETV6 AML|meningioma 0 0 0 0.058154 0 9 34 EP300 2033 broad.mit.edu 37 22 41566487 41566487 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr22:41566487A>G uc003azl.3 + 27 4759 c.4364A>G c.(4363-4365)CAG>CGG p.Q1455R NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1455 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CCTCCTGACCAGAAGATACCC 0.448 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.055883 0 21 95 TOP2B 7155 broad.mit.edu 37 3 25686873 25686873 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:25686873C>T uc011awn.1 - 2 201 c.158G>A c.(157-159)AGA>AAA p.R53K TOP2B_uc003cdj.2_Missense_Mutation_p.R48K NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 53 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CTGATACACTCTCTCAACAGA 0.358 NaN 0 0 0 0.0333 0 18 46 RRP9 9136 broad.mit.edu 37 3 51967533 51967533 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:51967533C>T uc003dbw.1 - 15 1456 c.1417G>A c.(1417-1419)GCT>ACT p.A473T NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 473 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CAGGAACCAGCAGCTGGGGGT 0.527 NaN 0 0 0 0.047766 0 8 27 GTF2E1 2960 broad.mit.edu 37 3 120469446 120469446 + Missense_Mutation SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:120469446G>A uc003edz.3 + 2 161 c.47G>A c.(46-48)CGG>CAG p.R16Q GTF2E1_uc003edy.2_Missense_Mutation_p.R16Q NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 16 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GCATTGAAGCGGTTAGCCAAG 0.433 NaN 0 0 0 0.02938 0 6 110 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.024245 0 10 17 SH3TC1 54436 broad.mit.edu 37 4 8230053 8230053 + Missense_Mutation SNP C C T rs116515695 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:8230053C>T uc003gkv.3 + 12 2733 c.2632C>T c.(2632-2634)CGG>TGG p.R878W SH3TC1_uc003gkw.3_Missense_Mutation_p.R802W|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 878 TPR 5. binding large_intestine(2)|pancreas(1) 3 GAGGACGGGCCGGACGAGGCA 0.677 NaN 0 0 0 0.009096 0 4 64 C4orf17 84103 broad.mit.edu 37 4 100458840 100458840 + Silent SNP C C G rs34271979 byFrequency TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:100458840C>G uc003huw.2 + 6 884 c.561C>G c.(559-561)CTC>CTG p.L187L C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 187 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TGGCAAAGCTCTGTAGCATTT 0.373 NaN 0 0 0 0.02938 0 7 69 TACR3 6870 broad.mit.edu 37 4 104640578 104640578 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:104640578G>A uc003hxe.1 - 1 398 c.255C>T c.(253-255)ATC>ATT p.I85I NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 85 Helical; Name=1; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ACCAGAGCGCGATGCGCCAGG 0.647 NaN 0 0 0 0.047766 0 7 93 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.01892 0 24 102 TRIO 7204 broad.mit.edu 37 5 14485268 14485268 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr5:14485268A>G uc003jff.2 + 47 6754 c.6748A>G c.(6748-6750)ATT>GTT p.I2250V TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899V NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2250 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGAGACCTTCATTTTGCATTC 0.403 NaN 0 0 0 0.055883 0 20 135 EHMT2 10919 broad.mit.edu 37 6 31854612 31854612 + Silent SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:31854612C>T uc003nxz.1 - 17 2191 c.2181G>A c.(2179-2181)GTG>GTA p.V727V EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V518V|EHMT2_uc011don.1_Silent_p.V750V|EHMT2_uc003nya.1_Silent_p.V693V NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 727 ANK 3. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 GGTGGTTGTTCACCACGGCCT 0.637 NaN 0 0 0 0.034045 0 27 170 EHMT2 10919 broad.mit.edu 37 6 31855596 31855596 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:31855596C>T uc003nxz.1 - 14 1898 c.1888G>A c.(1888-1890)GAG>AAG p.E630K EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.E421K|EHMT2_uc011don.1_Missense_Mutation_p.E653K|EHMT2_uc003nya.1_Missense_Mutation_p.E596K NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 630 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 TCCAGGGCCTCCCGGCCTGGC 0.662 NaN 0 0 0 0.055883 0 20 142 ZBTB9 221504 broad.mit.edu 37 6 33423481 33423481 + Missense_Mutation SNP G G C TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:33423481G>C uc003oeq.2 + 2 872 c.604G>C c.(604-606)GAA>CAA p.E202Q NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAGGGAAGTGAACTGGGAGA 0.443 NaN 0 0 0 0.049695 0 19 106 ADAT2 134637 broad.mit.edu 37 6 143755111 143755111 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:143755111C>A uc003qjj.2 - 3 255 c.209G>T c.(208-210)CGA>CTA p.R70L ADAT2_uc003qjk.1_RNA NM_182503 NP_872309 Q7Z6V5 ADAT2_HUMAN deaminase domain containing 1 70 tRNA processing hydrolase activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) TTCTGCATGTCGAGTAGCCTG 0.423 NaN 1 0 7.87624e-14 0.076483 8.66387e-14 22 146 KATNA1 11104 broad.mit.edu 37 6 149954043 149954044 + Missense_Mutation DNP CC CC TT TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr6:149954043_149954044CC>TT uc003qmr.1 - 2 216_217 c.171_172GG>AA c.(169-174)CAGGAA>CAAAAA p.E58K KATNA1_uc003qms.2_Missense_Mutation_p.E58K|KATNA1_uc003qmt.2_Missense_Mutation_p.E58K|KATNA1_uc011eed.1_Missense_Mutation_p.E58K NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 58 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) ACATTTATTTCCTGCCAAACCT 0.356 NaN 0 0 0 0.004672 0 6 74 ABCB5 340273 broad.mit.edu 37 7 20691117 20691117 + Silent SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:20691117A>G uc003suw.3 + 4 618 c.72A>G c.(70-72)CAA>CAG p.Q24Q ABCB5_uc010kuh.2_Silent_p.Q469Q|ABCB5_uc003suv.3_Silent_p.Q24Q|ABCB5_uc011jyi.1_Silent_p.Q24Q NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 24 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TGGTTAGTCAAGAGCCTGTTT 0.438 NaN 0 0 0 0.076483 0 24 96 ZMIZ2 83637 broad.mit.edu 37 7 44802942 44802942 + Missense_Mutation SNP C C A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:44802942C>A uc003tlr.2 + 13 1913 c.1790C>A c.(1789-1791)TCC>TAC p.S597Y ZMIZ2_uc003tlq.2_Missense_Mutation_p.S539Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.S571Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.S220Y|ZMIZ2_uc010kyj.2_Missense_Mutation_p.S119Y|ZMIZ2_uc003tlu.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 597 SP-RING-type. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 ATCAAGGTGTCCCTGAAGTGC 0.592 NaN 1 0 1.66031e-10 0.021523 1.7756e-10 27 134 CNTNAP2 26047 broad.mit.edu 37 7 147092873 147092873 + Splice_Site SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr7:147092873G>A uc003weu.1 + 10 2186 c.1670_splice c.e10+1 p.R557_splice NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCATAGACAGGTAAATGATCT 0.398 NaN HNSCC(39;0.1) 0 0 0 0.024245 0 15 117 MYBL1 4603 broad.mit.edu 37 8 67514656 67514656 + Silent SNP G G A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:67514656G>A uc003xwj.2 - 2 530 c.123C>T c.(121-123)GAC>GAT p.D41D MYBL1_uc003xwl.2_Silent_p.D41D|MYBL1_uc003xwk.2_Silent_p.D41D NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 41 HTH myb-type 1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TAATTACCTCGTCCCTTGTCC 0.308 NaN 0 0 0 0.028581 0 14 54 TP53INP1 94241 broad.mit.edu 37 8 95952380 95952380 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:95952380C>T uc003yhg.2 - 3 565 c.181G>A c.(181-183)GAG>AAG p.E61K C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E61K NM_033285 NP_150601 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 61 Glu-rich. apoptosis PML body 0 Breast(36;8.75e-07) GAAGGGTGCTCAGTAGGTGAC 0.463 NaN 0 0 0 0.028581 0 17 43 TIMM17B 10245 broad.mit.edu 37 X 48752377 48752377 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:48752377C>T uc004dlc.1 - 4 283 c.134G>A c.(133-135)CGG>CAG p.R45Q PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.R95Q|TIMM17B_uc004dlb.1_Missense_Mutation_p.R65Q NM_005834 NP_005825 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 45 protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CAACCGGTGCCGAATTCCCTG 0.547 NaN 0 0 0 0.014758 0 5 14 MAGEC1 9947 broad.mit.edu 37 X 140995948 140995948 + Missense_Mutation SNP C C T TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chrX:140995948C>T uc004fbt.2 + 4 3044 c.2758C>T c.(2758-2760)CTC>TTC p.L920F MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 920 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCGGTTTCTTCTCCTCAAATA 0.483 NaN HNSCC(15;0.026) 0 0 0 0.048971 0 75 278 ACAT1 38 broad.mit.edu 37 11 108016949 108016950 + Frame_Shift_Ins INS - - A TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr11:108016949_108016950insA uc001pjy.2 + 11 1102_1103 c.1026_1027insA c.(1024-1029)TTGAAAfs p.L342fs NM_000019 NP_000010 P24752 THIL_HUMAN acetyl-Coenzyme A acetyltransferase 1 precursor 342_343 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding ovary(3) 3 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) ATGTGGGATTGAAAAAAGAAGA 0.307 NaN NaN NaN NaN NaN NaN 44 175 --- --- SCN10A 6336 broad.mit.edu 37 3 38739662 38739662 + Frame_Shift_Del DEL G G - TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr3:38739662delG uc003ciq.2 - 27 5049 c.5049delC c.(5047-5049)CCCfs p.P1683fs NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1683 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CATTGCTGTTGGGCAGATTGG 0.582 NaN NaN NaN NaN NaN NaN 19 71 --- --- KIAA0196 9897 broad.mit.edu 37 8 126087241 126087241 + Frame_Shift_Del DEL T T - TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b62ad72b-d34b-44b3-b238-aedc487939b1 20a57718-4664-4e08-bf79-2a8486f53669 g.chr8:126087241delT uc003yrt.2 - 8 1306 c.977delA c.(976-978)CAGfs p.Q326fs KIAA0196_uc011lir.1_Frame_Shift_Del_p.Q178fs NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 326 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGAACCTACCTGTTCTCTGAC 0.388 NaN NaN NaN NaN NaN NaN 12 95 --- ---