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 LIMD1 8994 broad.mit.edu 37 3 45636405 45636405 + Missense_Mutation SNP A A T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr3:45636405A>T uc003coq.3 + 0 83 c.34A>T c.(34-36)Agt>Tgt p.S12C NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN Homo sapiens LIM domains containing 1 (LIMD1), mRNA. 12 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCTGGAGGCCAGTAAATTCAT 0.557000 11 30 0 0 1 0 0 RPL36A-HNRNPH2 100529097 broad.mit.edu 37 X 100650727 100650727 + Silent SNP C C A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chrX:100650727C>A uc004ehk.3 + 4 466 c.312C>A c.(310-312)atC>atA p.I104I RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron NM_021029 NP_066357 Homo sapiens ribosomal protein L36a (RPL36A), transcript variant 1, mRNA. GCCAAGTGATCCAGTTCTAAG 0.343000 8 22 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45891129 45891129 + Silent SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr20:45891129G>A uc010zxy.1 - 11 1627 c.1545C>T c.(1543-1545)tcC>tcT p.S515S ZMYND8_uc010ghq.1_Silent_p.S165S|ZMYND8_uc010ghr.1_Silent_p.S463S|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.S488S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.S240S|ZMYND8_uc002xsx.1_Silent_p.S240S|ZMYND8_uc002xsy.1_Silent_p.S463S|ZMYND8_uc002xsz.1_Silent_p.S425S|ZMYND8_uc002xta.1_Silent_p.S488S|ZMYND8_uc002xtb.1_Silent_p.S508S|ZMYND8_uc002xss.2_Silent_p.S488S|ZMYND8_uc010zxz.1_Silent_p.S483S|ZMYND8_uc002xtc.1_Silent_p.S508S|ZMYND8_uc002xtd.1_Silent_p.S483S|ZMYND8_uc002xte.1_Silent_p.S488S|ZMYND8_uc010zya.1_Silent_p.S488S|ZMYND8_uc002xtf.1_Silent_p.S508S|ZMYND8_uc002xtg.3_Silent_p.S482S|ZMYND8_uc010ghs.2_Silent_p.S482S NM_183047 NP_898868 Q9ULU4 PKCB1_HUMAN Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA. 488 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TTGGGCTGCCGGATAAACTCC 0.488000 4 51 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 907717 907717 + Silent SNP C C T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr1:907717C>T uc001ace.3 + 8 1106 c.1071C>T c.(1069-1071)taC>taT p.Y357Y PLEKHN1_uc001acd.3_Silent_p.Y305Y|PLEKHN1_uc001acf.3_Silent_p.Y317Y NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 357 PH 2. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGAGGACTACGGTCACTGGC 0.687000 3 47 0 0 1 0 0 TSSK4 283629 broad.mit.edu 37 14 24676436 24676436 + Silent SNP T T C TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr14:24676436T>C uc001wnh.3 + 2 759 c.555T>C c.(553-555)tcT>tcC p.S185S TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.S99S|TSSK4_uc001wnf.3_Silent_p.S105S|TSSK4_uc001wng.3_Silent_p.S175S NM_001184739 NP_001171668 Q6SA08 TSSK4_HUMAN Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA. 175 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) TGGTGCCTTCTAACCAGCCTG 0.502000 8 134 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37431233 37431233 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:37431233G>A uc002hrt.3 - 9 1071 c.817C>T c.(817-819)Cca>Tca p.P273S FBXL20_uc010cvu.3_Missense_Mutation_p.P241S NM_032875 NP_116264 Q96IG2 FXL20_HUMAN Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA. 273 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) CTAAGCCGTGGGCAGTTCTGA 0.408000 20 49 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 16 20 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49866894 49866894 + Silent SNP C C T rs146306196 byFrequency TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr3:49866894C>T uc003cxs.1 - 13 1390 c.1284G>A c.(1282-1284)caG>caA p.Q428Q TRAIP_uc010hla.1_Silent_p.Q329Q NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN Homo sapiens TRAF interacting protein (TRAIP), mRNA. 428 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGATACAGGCTGGATGAATT 0.577000 22 35 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114911638 114911638 + Silent SNP C C A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr10:114911638C>A uc021pyi.1 + 9 1663 c.1156C>A c.(1156-1158)Cgg>Agg p.R386R TCF7L2_uc001lah.3_Silent_p.R368R|TCF7L2_uc010qro.2_Silent_p.R363R|TCF7L2_uc001lae.4_Silent_p.R386R|TCF7L2_uc010qrm.2_Silent_p.R386R|TCF7L2_uc010qrn.2_Silent_p.R329R|TCF7L2_uc021pyg.1_Silent_p.R102R|TCF7L2_uc021pyh.1_Silent_p.R368R|TCF7L2_uc021pyj.1_Silent_p.R386R|TCF7L2_uc021pyk.1_Silent_p.R368R|TCF7L2_uc021pyl.1_Silent_p.R368R|TCF7L2_uc010qrp.2_Silent_p.R363R|TCF7L2_uc021pym.1_Silent_p.R359R|TCF7L2_uc021pyn.1_Silent_p.R391R|TCF7L2_uc021pyo.1_Silent_p.R391R|TCF7L2_uc021pyp.1_Silent_p.R382R|TCF7L2_uc010qrq.2_Silent_p.R359R|TCF7L2_uc001lac.4_Silent_p.R363R|TCF7L2_uc010qrk.2_Silent_p.R363R|TCF7L2_uc001lad.4_Silent_p.R359R|TCF7L2_uc001lag.4_Silent_p.R410R|TCF7L2_uc001laf.4_Silent_p.R363R|TCF7L2_uc010qrl.2_Silent_p.R363R|TCF7L2_uc010qrr.2_Silent_p.R301R|TCF7L2_uc010qrs.2_Silent_p.R257R|TCF7L2_uc010qrt.2_Silent_p.R257R|TCF7L2_uc010qru.2_Silent_p.R285R|TCF7L2_uc010qrv.2_Silent_p.R203R|TCF7L2_uc010qrw.2_Silent_p.R90R|TCF7L2_uc010qrx.2_Silent_p.R243R|Mir_652_uc021pyq.1_5'Flank NM_030756 NP_110383 Q9NQB0 TF7L2_HUMAN Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA. 386 Mediates interaction with MAD2L2. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus PML body|beta-catenin-TCF7L2 complex|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.L386L(1) VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GATCCTTGGGCGGAGGGTAGG 0.547000 T VTI1A colorectal 3 58 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139342 33139342 + Missense_Mutation SNP C C T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr6:33139342C>T uc003ocx.1 - 42 3388 c.3160G>A c.(3160-3162)Ggc>Agc p.G1054S COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G968S|COL11A2_uc003ocz.1_Missense_Mutation_p.G947S NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1054 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAATGGGGCCCTTCTCACCC 0.617000 7 14 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7722542 7722542 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:7722542G>A uc002giu.1 + 70 10845 c.10831G>A c.(10831-10833)Gcc>Acc p.A3611T DNAH2_uc010cnm.1_Missense_Mutation_p.A549T NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3611 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A3611T(2) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCGCCCATGCGCCCAGCGGGC 0.607000 5 102 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584499 82584499 + Missense_Mutation SNP T T C TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr7:82584499T>C uc003uhx.2 - 4 6059 c.5770A>G c.(5770-5772)Aaa>Gaa p.K1924E PCLO_uc003uhv.2_Missense_Mutation_p.K1924E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1855 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTGTGTTTTATGCATCATT 0.358000 4 4 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923511 158923511 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr6:158923511G>A uc003qrf.3 + 12 4173 c.2816G>A c.(2815-2817)aGc>aAc p.S939N TULP4_uc003qrg.3_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 939 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCCCTGCAGCAGTGCCACC 0.672000 4 128 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49067105 49067105 + Nonsense_Mutation SNP C C A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:49067105C>A uc002itc.3 - 20 2955 c.2746G>T c.(2746-2748)Gag>Tag p.E916* SPAG9_uc002itd.3_Nonsense_Mutation_p.E906*|SPAG9_uc002itb.3_Nonsense_Mutation_p.E902*|SPAG9_uc002itf.3_Nonsense_Mutation_p.E737*|SPAG9_uc002ita.3_Nonsense_Mutation_p.E759*|SPAG9_uc002ite.3_Nonsense_Mutation_p.E746* NM_001130528 NP_001124000 O60271 JIP4_HUMAN Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA. 916 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AAGACATGCTCTGTGTAGACG 0.478000 4 36 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57180750 57180752 + In_Frame_Del DEL AGG AGG - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr4:57180750_57180752delAGG uc003hbk.2 + 7 1473_1475 c.1082_1084delAGG c.(1081-1086)caggag>cag p.E365del KIAA1211_uc010iha.2_In_Frame_Del_p.E358del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E275del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E251del NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 365 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ctcaaaaggcaggaggaggagga 0.704 2 4 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67257831 67257831 + Frame_Shift_Del DEL A A - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:67257831delA uc002jif.2 - 23 4592 c.3374delT c.(3373-3375)ttcfs p.F1125fs ABCA5_uc002jib.2_Frame_Shift_Del_p.F91fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.F348fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.F42fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.F1125fs NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 1125 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTTAAAGGTGAAAGAAGCAAT 0.264 2 4 --- --- --- --- BAHCC1 57597 broad.mit.edu 37 17 79409285 79409285 + Frame_Shift_Del DEL G G - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:79409285delG uc002kaf.2 + 3 724 c.724delG c.(724-726)gggfs p.G242fs BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 304 DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CAGCTGTGCAGGGGGCATGCT 0.726 2 4 --- --- --- ---