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 TULP1 7287 broad.mit.edu 37 6 35473554 35473554 + Missense_Mutation SNP A A G TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr6:35473554A>G ENST00000229771.6 - 11 1155 c.1076T>C c.(1075-1077)cTg>cCg p.L359P TULP1_ENST00000322263.4_Missense_Mutation_p.L306P NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 359 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TCCTCGGGACAGATTGGTAGG 0.577000 24 26 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51189611 51189611 + Splice_Site SNP G G T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr19:51189611G>T ENST00000293441.1 - 20 2478 c.2458_splice c.e20-1 p.N820_splice SHANK1_ENST00000359082.3_Splice_Site_p.N811_splice|SHANK1_ENST00000391814.1_Splice_Site_p.N828_splice|SHANK1_ENST00000391813.1_Splice_Site_p.N207_splice NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 820 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGTCCAGTTTGTCTAGGGGTA 0.572000 21 47 2.98393e-07 3.04483e-07 1 1 0 PCSK7 9159 broad.mit.edu 37 11 117094847 117094847 + Missense_Mutation SNP T T C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr11:117094847T>C ENST00000320934.3 - 8 1631 c.1001A>G c.(1000-1002)aAc>aGc p.N334S PCSK7_ENST00000540028.1_5'UTR NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 334 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GCAGTTGTCGTTGTGTTGGCC 0.547000 T IGH@ MLCLS 4 56 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47855938 47855938 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr21:47855938G>A ENST00000359568.5 + 39 8980 c.8873G>A c.(8872-8874)cGc>cAc p.R2958H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2958 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGTTCTGCCCGCAGGGCTGCC 0.652000 5 106 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30991489 30991489 + Missense_Mutation SNP A A G TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr16:30991489A>G ENST00000262519.8 + 14 5068 c.4382A>G c.(4381-4383)aAc>aGc p.N1461S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1461 Interaction with ASH2L, RBBP5 and WDR5. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GACTGGCTCAACGACACTCAC 0.612000 9 18 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62265588 62265588 + Silent SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr17:62265588G>A ENST00000258991.3 - 5 2469 c.2385C>T c.(2383-2385)agC>agT p.S795S TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000583097.1_Silent_p.S788S Q8IWB9 TEX2_HUMAN testis expressed 2 788 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GGGGGCTTCGGCTTTCCTGGG 0.602000 32 51 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49081163 49081163 + Silent SNP C C A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr15:49081163C>A ENST00000380950.2 - 9 1195 c.1008G>T c.(1006-1008)ctG>ctT p.L336L CEP152_ENST00000399334.3_Silent_p.L336L|CEP152_ENST00000325747.5_Silent_p.L243L NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 336 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCAAGCTTTCCAGAGCCATTT 0.413000 33 62 6.00712e-18 6.25742e-18 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51892687 51892687 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr6:51892687G>A ENST00000371117.3 - 31 3843 c.3568C>T c.(3568-3570)Ctc>Ttc p.L1190F PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1190 IPT/TIG 6; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGGATGTGGAGATCAACCCTA 0.443000 17 13 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221837 55221837 + RNA SNP G G C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr19:55221837G>C ENST00000413439.1 + 0 1415 CTGGGGAGGTGTCAGCTCAGA 0.632000 4 32 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66626537 66626537 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr11:66626537G>A ENST00000309602.4 + 1 1565 c.1322G>A c.(1321-1323)aGc>aAc p.S441N PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 441 Fibronectin type-III. integral to membrane breast(1)|lung(1)|prostate(1) 3 CAGTACAACAGCAGCGAAGAT 0.662000 30 60 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080125 194080125 + Missense_Mutation SNP C C T rs115716405 byFrequency TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr3:194080125C>T ENST00000347624.3 - 2 1733 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T LRRC15_ENST00000428839.1_Missense_Mutation_p.A556T|LRRC15_ENST00000439944.2_Missense_Mutation_p.A556T NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 550 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CAGGCCAGGGCGACAATGCCA 0.582000 4 67 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78343413 78343413 + Silent SNP T T C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr17:78343413T>C ENST00000582970.1 + 45 12410 c.12267T>C c.(12265-12267)atT>atC p.I4089I RNF213_ENST00000336301.6_Silent_p.I2162I|RNF213_ENST00000508628.2_Silent_p.I4138I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGAAGTGATTGAGAGCCTGC 0.517000 31 57 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 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 23 53 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86014089 86014089 + Missense_Mutation SNP A A T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr10:86014089A>T ENST00000359452.4 + 5 570 c.532A>T c.(532-534)Acc>Tcc p.T178S RGR_ENST00000358110.5_Missense_Mutation_p.T174S NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 174 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 TAGAAACTTCACCAGCTTCCT 0.552000 32 45 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612219 16612219 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr17:16612219G>A ENST00000443444.2 + 5 988 c.848G>A c.(847-849)gGc>gAc p.G283D CCDC144A_ENST00000399273.1_Missense_Mutation_p.G283D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G283D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G282D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G283D A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 283 ATTGAACAAGGCAAATTAGAG 0.363000 24 32 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26537317 26537317 + Missense_Mutation SNP T T C rs150700942 byFrequency TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr2:26537317T>C ENST00000333478.6 - 4 1082 c.500A>G c.(499-501)tAc>tGc p.Y167C GPR113_ENST00000421160.2_Missense_Mutation_p.Y297C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000311519.1_Missense_Mutation_p.Y366C NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 366 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCGCGGTGTAGGCCAGGTT 0.637000 5 63 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16475507 16475507 + Silent SNP C C T rs144914242 by1000genomes TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr1:16475507C>T ENST00000358432.5 - 3 343 c.189G>A c.(187-189)ccG>ccA p.P63P EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 63 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACATGTAGATCGGCATGTCAT 0.562000 4 68 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41058005 41058005 + Splice_Site SNP T T C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chrX:41058005T>C ENST00000324545.7 + 30 5236 c.e30+2 USP9X_ENST00000378308.2_Splice_Site NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CAATAACTAGTAAGTATTTTT 0.294000 10 16 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10443979 10443979 + Missense_Mutation SNP G G C rs138162020 TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr17:10443979G>C ENST00000245503.5 - 11 1324 c.940C>G c.(940-942)Cca>Gca p.P314A MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|MYH2_ENST00000532183.1_Missense_Mutation_p.P314A|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 314 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.P314S(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGACAAATGGGTAATCATAT 0.363000 8 44 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80638351 80638351 + Silent SNP G G C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr16:80638351G>C ENST00000299564.8 - 7 1610 c.1455C>G c.(1453-1455)ctC>ctG p.L485L CDYL2_ENST00000562812.1_Silent_p.L486L|CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000563890.1_Silent_p.L486L NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 485 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGGAGCTCCAGAGCTGCTTGA 0.547000 38 85 0 0 1 0 0 METTL21B 25895 broad.mit.edu 37 12 58168511 58168511 + Missense_Mutation SNP C C T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr12:58168511C>T ENST00000333012.5 + 3 436 c.389C>T c.(388-390)aCc>aTc p.T130I METTL21B_ENST00000300209.8_Intron|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL21B_ENST00000548256.1_Missense_Mutation_p.T88I|RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 0 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 TCCATGTCTACCATGACTCCC 0.547000 4 13 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998790 27998790 + Missense_Mutation SNP A A G TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chrX:27998790A>G ENST00000441525.1 - 1 776 c.662T>C c.(661-663)aTa>aCa p.I221T NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 221 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GTCCCACACTATCACCCTTAA 0.502000 10 39 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 61 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145116027 145116027 + RNA SNP T T C rs7550440 TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr1:145116027T>C ENST00000453618.1 + 0 1113 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AAAAGAGATGTCCTGAAAATG 0.423000 5 19 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379139 138379139 + Missense_Mutation SNP C C T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr9:138379139C>T ENST00000356818.2 + 4 3332 c.2783C>T c.(2782-2784)cCt>cTt p.P928L PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 928 nucleolus protein binding AAGGGGCTCCCTGCTGCTCCT 0.672000 10 64 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. 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) GCTGTAGCCCTTCCAGTTCCT 0.587000 4 65 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214822144 214822144 + Silent SNP C C T rs142818960 TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr1:214822144C>T ENST00000366955.3 + 14 8125 c.7957C>T c.(7957-7959)Ctg>Ttg p.L2653L CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2749 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GTTGCAGTTACTGTTGGAAGA 0.408000 4 63 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52285331 52285331 + Silent SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr5:52285331G>A ENST00000296585.5 + 1 176 c.33G>A c.(31-33)ctG>ctA p.L11L CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 11 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CCGCGCCGCTGCCGCTGCTGC 0.672000 4 74 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798323 148798323 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chrX:148798323G>A ENST00000355220.5 + 5 1279 c.1177G>A c.(1177-1179)Gag>Aag p.E393K MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 393 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGCCCACGCTGAGACCAGCAA 0.532000 81 146 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45837906 45837906 + Silent SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr21:45837906G>A ENST00000397928.1 + 21 3688 c.3243G>A c.(3241-3243)ccG>ccA p.P1081P TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P1081P|TRPM2_ENST00000300481.9_Silent_p.P1061P NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1081 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ccgccgcgccgccccccTTCA 0.627000 23 45 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237165 140237165 + Missense_Mutation SNP C C T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr5:140237165C>T ENST00000307360.5 + 1 1532 c.1532C>T c.(1531-1533)gCg>gTg p.A511V PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGTGCACGCGGAGAGCGGC 0.701000 40 91 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 156214 156214 + Missense_Mutation SNP A A T TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr5:156214A>T ENST00000283426.6 + 8 1219 c.1169A>T c.(1168-1170)gAg>gTg p.E390V NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 390 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GACCAGCATGAGACGATGATG 0.582000 26 46 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45507741 45507741 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr21:45507741G>A ENST00000291574.4 + 17 2876 c.2701G>A c.(2701-2703)Gca>Aca p.A901T NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 901 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GCTGGGGATGGCAGAGCCCCA 0.547000 3 33 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70327615 70327615 + Missense_Mutation SNP G G A TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chrX:70327615G>A ENST00000374202.2 - 8 1172 c.1081C>T c.(1081-1083)Cca>Tca p.P361S IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 361 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GTGTAACATGGGGGGGCCCAG 0.577000 Severe Combined Immunodeficiency, X-linked 9 19 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185337150 185337150 + Frame_Shift_Del DEL C C - TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr3:185337150delC ENST00000296257.5 + 13 1546 c.1306delC c.(1306-1308)atfs p.H436fs SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs|SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 436 Protease. mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCCAGCACTTCATGTATTCAG 0.373 26 34 --- --- --- --- CTD-2324F15.2 0 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 3 6 --- --- --- --- CBL 867 broad.mit.edu 37 11 119077233 119077235 + In_Frame_Del DEL CAC CAC - TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr11:119077233_119077235delCAC ENST00000264033.4 + 1 482_484 c.106_108delCAC c.(106-108)del p.H42del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 42 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTTCCAGCCGcaccaccaccacc 0.675 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 2 4 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 7 92 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-EM-A4FM-01A-11D-A257-08 TCGA-EM-A4FM-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8fb009-485a-4a13-8ca8-a1023435f7e8 f8086c0f-874d-48e5-93c9-b13628df6db0 g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 4 2 --- --- --- ---