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 RANBP2 5903 broad.mit.edu 37 2 109382494 109382494 + Silent SNP T T G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:109382494T>G ENST00000283195.6 + 20 5625 c.5499T>G c.(5497-5499)tcT>tcG p.S1833S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1833 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATGACTCTTCTGGAAGTCAGG 0.413000 29 65 0 0 0.007291 0 0 VWA3B 200403 broad.mit.edu 37 2 98853095 98853095 + Missense_Mutation SNP C C A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:98853095C>A ENST00000477737.1 + 19 2779 c.2575C>A c.(2575-2577)Ctc>Atc p.L859I NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 859 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CGCCAAGAAACTCACCCTCAT 0.478000 8 93 1.06961e-07 6.68508e-07 0.003080 1 0 RABEP1 9135 broad.mit.edu 37 17 5253769 5253769 + Nonsense_Mutation SNP C C T TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr17:5253769C>T ENST00000262477.6 + 7 1032 c.808C>T c.(808-810)Cga>Tga p.R270* RABEP1_ENST00000341923.6_Nonsense_Mutation_p.R270*|RABEP1_ENST00000546142.2_Nonsense_Mutation_p.R270*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.R227*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.R270* NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 270 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGAGCAAGAGCGACAACAACA 0.418000 8 85 0 0 0.003080 0 0 ZNF709 163051 broad.mit.edu 37 19 12575380 12575380 + Silent SNP C C T TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr19:12575380C>T ENST00000397732.3 - 4 1527 c.1356G>A c.(1354-1356)caG>caA p.Q452Q ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 CTTTACCACACTGTTTACATT 0.403000 4 159 0 0 0.000248 0 0 CSMD2 114784 broad.mit.edu 37 1 34190211 34190211 + Silent SNP G G A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr1:34190211G>A ENST00000373381.4 - 18 2966 c.2790C>T c.(2788-2790)acC>acT p.T930T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 890 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACAGCTGAAGGTCACCAGCG 0.562000 5 66 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179455272 179455272 + Missense_Mutation SNP T T G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:179455272T>G ENST00000589042.1 - 304 61404 c.61180A>C c.(61180-61182)Aag>Cag p.K20394Q TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K18753Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K17826Q|TTN_ENST00000342175.6_Missense_Mutation_p.K11521Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K11454Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K11329Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18753 Fibronectin type-III 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAGAGGCTTTGTCCACACC 0.443000 54 94 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 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 41 0 0 0.002299 0 0 WASH3P 0 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 4 57 0 0 0.000602 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569769 99569769 + Missense_Mutation SNP C C T TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr3:99569769C>T ENST00000331335.5 - 5 1221 c.751G>A c.(751-753)Gca>Aca p.A251T FILIP1L_ENST00000383694.2_Missense_Mutation_p.A11T|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A251T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A11T|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000476723.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 251 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTGAGCTGTGCCGTCAGCCTT 0.488000 4 144 0 0 0.000248 0 0 BMS1 9790 broad.mit.edu 37 10 43318651 43318651 + Missense_Mutation SNP A A G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr10:43318651A>G ENST00000374518.4 + 20 3281 c.3218A>G c.(3217-3219)aAa>aGa p.K1073R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1073 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGATCAAGAAAGCACTCCGA 0.498000 3 76 0 0 0.000248 0 0 FHL5 9457 broad.mit.edu 37 6 97051492 97051492 + Translation_Start_Site SNP G G C TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr6:97051492G>C ENST00000326771.2 + 3 383 c.3G>C c.(1-3)atG>atC p.M1I FHL5_ENST00000541107.1_Start_Codon_SNP_p.M1I NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 1 nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AAACCAAAATGACAACTGCTC 0.318000 4 73 0 0 0.001168 0 0 ZNF512B 57473 broad.mit.edu 37 20 62592689 62592689 + Silent SNP T T C TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr20:62592689T>C ENST00000450537.1 - 16 2460 c.2400A>G c.(2398-2400)aaA>aaG p.K800K ZNF512B_ENST00000217130.3_Silent_p.K800K|ZNF512B_ENST00000369888.1_Silent_p.K800K Q96KM6 Z512B_HUMAN zinc finger protein 512B 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGATGTGGTATTTGACGCCAC 0.647000 3 56 0 0 0.004672 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 24 0 0 0.004672 0 0 MANBA 4126 broad.mit.edu 37 4 103557044 103557044 + Missense_Mutation SNP G G A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr4:103557044G>A ENST00000226578.4 - 15 2234 c.2135C>T c.(2134-2136)tCg>tTg p.S712L MANBA_ENST00000505239.1_Missense_Mutation_p.S655L NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 712 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CGAATAATCCGAGTGAAGATC 0.363000 4 69 0 0 0.000248 0 0 TES 26136 broad.mit.edu 37 7 115891896 115891896 + Missense_Mutation SNP A A C TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr7:115891896A>C ENST00000358204.4 + 5 1000 c.785A>C c.(784-786)cAc>cCc p.H262P TES_ENST00000393481.2_Missense_Mutation_p.H253P|TES_ENST00000537767.1_Missense_Mutation_p.H20P|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 262 LIM zinc-binding 1. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) AAACTGTGGCACCCAGCTTGT 0.468000 7 116 0 0 0.002450 0 0 KIF1B 23095 broad.mit.edu 37 1 10397153 10397153 + Missense_Mutation SNP A A G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr1:10397153A>G ENST00000377086.1 + 30 3353 c.3151A>G c.(3151-3153)Atg>Gtg p.M1051V KIF1B_ENST00000263934.6_Missense_Mutation_p.M1005V|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1051V O60333 KIF1B_HUMAN kinesin family member 1B 1051 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GTCTGTTGCAATGACTCGTTC 0.428000 53 120 0 0 0.003610 0 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 7 82 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 59 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158570 11158570 + RNA DEL A A - rs10574607 TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr11:11158570delA ENST00000525758.1 + 0 108 actctgtctcaaaaaaaaaaa 0.413 4 3 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 2 4 --- --- --- ---