Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CPNE1 8904 broad.mit.edu 37 20 34220525 34220525 + Missense_Mutation SNP G G A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr20:34220525G>A ENST00000317619.3 - 5 617 c.223C>T c.(223-225)Cgc>Tgc p.R75C CPNE1_ENST00000397442.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R75C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R75C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R80C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R75C|CPNE1_ENST00000397443.1_Missense_Mutation_p.R75C Q99829 CPNE1_HUMAN copine I 75 C2 1. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATTCCAAAGCGTAGCTTCTGG 0.542000 13 145 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120744381 120744381 + Missense_Mutation SNP C C T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr8:120744381C>T ENST00000378164.2 - 26 3681 c.3383G>A c.(3382-3384)aGc>aAc p.S1128N NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 1128 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GAGTGGAGCGCTTGCCGCTGG 0.443000 28 97 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89253860 89253860 + Silent SNP C C T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr16:89253860C>T ENST00000289746.2 + 6 752 c.687C>T c.(685-687)acC>acT p.T229T NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 229 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) ACAATCTGACCCTGCAGGTGG 0.622000 3 20 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74683055 74683055 + Missense_Mutation SNP T T A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr16:74683055T>A ENST00000361070.4 - 4 864 c.767A>T c.(766-768)gAt>gTt p.D256V RFWD3_ENST00000571750.1_Missense_Mutation_p.D256V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 256 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTTGCCTCCATCGATACATGT 0.363000 5 70 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292810 102292810 + RNA SNP G G T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr15:102292810G>T ENST00000561463.1 + 0 856 ACCTGCACTCGCGTGGGAACG 0.607000 3 21 6.4e-05 7.31429e-05 1 1 0 SZT2 23334 broad.mit.edu 37 1 43894060 43894060 + Missense_Mutation SNP C C T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr1:43894060C>T ENST00000562955.1 + 27 3898 c.3898C>T c.(3898-3900)Ccc>Tcc p.P1300S SZT2_ENST00000372442.1_Missense_Mutation_p.P458S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1357 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCCTCATGCACCCCCAAGTCC 0.557000 24 43 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55573401 55573401 + Missense_Mutation SNP T T A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr4:55573401T>A ENST00000288135.5 + 6 1160 c.1063T>A c.(1063-1065)Ttc>Atc p.F355I NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 355 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAACAGAACCTTCACTGATAA 0.393000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 10 45 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 127 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133359042 133359042 + Missense_Mutation SNP C C A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr12:133359042C>A ENST00000204726.3 - 17 3863 c.3305G>T c.(3304-3306)cGc>cTc p.R1102L GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1102L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1102L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1102 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTCCTCAAGGCGTTTTATCTT 0.478000 4 160 1 1 1 1 0 LINC00969 0 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 67 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24749943 24749943 + Silent SNP G G A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr7:24749943G>A ENST00000545231.1 - 8 1420 c.270C>T c.(268-270)taC>taT p.Y90Y DFNA5_ENST00000409970.1_Silent_p.Y90Y|DFNA5_ENST00000419307.1_Silent_p.Y90Y|DFNA5_ENST00000342947.3_Silent_p.Y254Y|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.Y254Y O60443 DFNA5_HUMAN deafness, autosomal dominant 5 254 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGGGGTCCAGGTAGACAGAGT 0.473000 15 87 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220412578 220412578 + Missense_Mutation SNP A A C TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr2:220412578A>C ENST00000344458.2 + 4 1102 c.517A>C c.(517-519)Acc>Ccc p.T173P TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P Q66K66 TM198_HUMAN transmembrane protein 198 173 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 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) CCCACTCACCACCCTGGCCAC 0.697000 6 13 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 47 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 68 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104915191 104915191 + Missense_Mutation SNP C C A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr11:104915191C>A ENST00000375706.2 - 2 219 c.202G>T c.(202-204)Gca>Tca p.A68S CARD16_ENST00000525374.1_Missense_Mutation_p.A68S|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.A68S|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 ATTTGGCATGCCTGTGCCCCT 0.463000 7 204 8.12818e-05 8.86711e-05 1 1 0 KIT 3815 broad.mit.edu 37 4 55573421 55573421 + Missense_Mutation SNP T T G TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr4:55573421T>G ENST00000288135.5 + 6 1180 c.1083T>G c.(1081-1083)gaT>gaG p.D361E NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 361 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AATGGGAAGATTATCCCAAGT 0.403000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 10 41 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 43 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55573419 55573419 + Missense_Mutation SNP G G C TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr4:55573419G>C ENST00000288135.5 + 6 1178 c.1081G>C c.(1081-1083)Gat>Cat p.D361H NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 361 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.D361N(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TAAATGGGAAGATTATCCCAA 0.408000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 10 43 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76440797 76440797 + Missense_Mutation SNP G G C TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr17:76440797G>C ENST00000389840.5 - 71 11499 c.11375C>G c.(11374-11376)tCg>tGg p.S3792W DNAH17_ENST00000585328.1_Missense_Mutation_p.S3801W|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGGGGCTTCCGACTCCACCAG 0.587000 7 27 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21011623 21011623 + Missense_Mutation SNP A A T TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr16:21011623A>T ENST00000261383.3 - 43 6343 c.6344T>A c.(6343-6345)aTc>aAc p.I2115N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2115 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGACATGATGATATCCTGGGT 0.522000 9 70 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6512140 6512140 + Frame_Shift_Del DEL A A - TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr1:6512140delA ENST00000377828.1 + 10 2477 c.2309delA c.(2308-2310)ggfs p.E771fs ESPN_ENST00000461727.1_Frame_Shift_Del_p.E205fs|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.E205fs NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 771 Glu-rich. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CAGGAGGAGGAGGAGCAGAGG 0.682 2 4 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363979 204363980 + RNA INS - - A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr1:204363979_204363980insA ENST00000443515.1 + 0 146 atttgtttttcaaaaaaaaaaa 0.307 2 4 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - ACACAT rs59536241 by1000genomes TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr4:68632418_68632419insACACAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 6 6 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 7 88 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 8 56 --- --- --- --- SLC31A2 1318 broad.mit.edu 37 9 115913263 115913265 + Translation_Start_Site DEL GCG GCG - TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr9:115913263_115913265delGCG ENST00000259392.3 + 0 42_44 SLC31A2_ENST00000490809.1_3'UTR NM_001860.2 NP_001851.1 O15432 COPT2_HUMAN solute carrier family 31 (copper transporter), member 2 integral to plasma membrane copper ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 7 GGTAGCTATCgcggcggcggcgg 0.744 2 4 --- --- --- --- MCU 90550 broad.mit.edu 37 10 74451955 74451956 + In_Frame_Ins INS - - GGGGCG TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr10:74451955_74451956insGGGGCG ENST00000373053.3 + 1 67_68 c.46_47insGGGGCG c.(46-48)ggg>GGGGCGggg p.16_16G>GAG MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG NM_138357.1 NP_612366.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 16 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 CCTCTCCTCTCGGggcggcggc 0.767 3 5 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 9 295 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158591 11158592 + RNA DEL AG AG - rs11303970 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr11:11158591_11158592delAG ENST00000525758.1 + 0 108 aaaaaaaaaaagaaaaaaaaat 0.391 4 8 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr12:11546856_11546858delAGA ENST00000389362.4 - 3 189_191 c.154_156delTCT c.(154-156)del p.S52del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTCCTGGAGGAGATGGGGGACCT 0.557 7 542 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 8 179 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 18 60 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28836960 28836961 + Frame_Shift_Ins INS - - A TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr16:28836960_28836961insA ENST00000336783.4 + 3 519_520 c.352_353insA c.(352-354)caafs p.Q118fs ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.Q118fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.Q118fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 118 Interaction with MPL. membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGAAGGCGTCTACAACAATTCC 0.426 10 176 --- --- --- --- CTD-2206N4.4 0 broad.mit.edu 37 17 37213527 37213528 + RNA INS - - TTG rs71141752 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chr17:37213527_37213528insTTG ENST00000583447.1 + 0 141 NR_036551.1 GAAGGACTCttttttttttttt 0.550 2 4 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-J8-A42S-01A-11D-A23M-08 TCGA-J8-A42S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12fcb9bc-5cdc-44a8-b572-184c0287cb01 d75187ef-ddd6-4d42-93a7-57655c9665f2 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 6 13 --- --- --- ---