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 TLN2 83660 broad.mit.edu 37 15 63069044 63069044 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr15:63069044G>A ENST00000561311.1 + 42 5679 c.5449G>A c.(5449-5451)Gaa>Aaa p.E1817K TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K|TLN2_ENST00000472902.1_Missense_Mutation_p.E210K Q9Y4G6 TLN2_HUMAN talin 2 1817 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GACGCTGAACGAAGCTGCCAG 0.567000 3 84 0 0 0.150653 0 0 TEK 7010 broad.mit.edu 37 9 27192585 27192585 + Missense_Mutation SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:27192585C>G ENST00000380036.4 + 11 2030 c.1588C>G c.(1588-1590)Cct>Gct p.P530A TEK_ENST00000406359.4_Missense_Mutation_p.P487A|TEK_ENST00000519097.1_Missense_Mutation_p.P383A NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 530 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GGAAGGGCATCCTGGACCTGT 0.517000 4 113 0 0 0.184627 0 0 NUFIP2 57532 broad.mit.edu 37 17 27620945 27620945 + Missense_Mutation SNP G G T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:27620945G>T ENST00000225388.4 - 1 191 c.133C>A c.(133-135)Cac>Aac p.H45N NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 45 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtggtggttgtggctg 0.587000 4 182 0.00024832 0.00026649 0.150653 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95664979 95664979 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr7:95664979G>A ENST00000324972.6 + 13 1523 c.1330G>A c.(1330-1332)Gga>Aga p.G444R DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R|DYNC1I1_ENST00000497626.1_3'UTR NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 444 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CGCTGTTACCGGAATGGCTTT 0.493000 4 181 0 0 0.184627 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14104 14104 + Missense_Mutation SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chrM:14104T>C ENST00000361567.2 + 1 1768 c.1768T>C c.(1768-1770)Tct>Cct p.S590P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 590 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TTTACTTCCTCTCTTTCTTCT 0.383000 31 4 0 0 0.840704 0 0 DNAH17 8632 broad.mit.edu 37 17 76464923 76464923 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:76464923C>T ENST00000389840.5 - 55 8636 c.8512G>A c.(8512-8514)Gtt>Att p.V2838I DNAH17_ENST00000585328.1_Missense_Mutation_p.V2847I|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) ACCGAGGGAACGTTCTTCACG 0.542000 3 77 0 0 0.150653 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 17 0 0 0.217242 0 0 PALM2 114299 broad.mit.edu 37 9 112705452 112705452 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:112705452A>G ENST00000448454.2 + 8 989 c.989A>G c.(988-990)aAg>aGg p.K330R PALM2_ENST00000483909.1_Missense_Mutation_p.K294R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.K296R|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 GAGACGAAAAAGGTGCTAGGC 0.498000 3 113 0 0 0.150653 0 0 ASCC3 10973 broad.mit.edu 37 6 101253689 101253689 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:101253689A>G ENST00000369162.2 - 5 1213 c.869T>C c.(868-870)aTt>aCt p.I290T ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCTATCCACAATTGTAATTCT 0.328000 21 20 0 0 0.608945 0 0 CTNNB1 1499 broad.mit.edu 37 3 41280634 41280634 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr3:41280634A>G ENST00000349496.5 + 15 2427 c.2147A>G c.(2146-2148)tAt>tGt p.Y716C CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 716 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GATCCTAGCTATCGTTCTTTT 0.493000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 4 105 0 0 0.217242 0 0 TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Missense_Mutation SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr8:30695491T>C ENST00000256246.2 - 3 7234 c.7160A>G c.(7159-7161)aAg>aGg p.K2387R NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388000 3 157 0 0 0.115264 0 0 TMEM160 54958 broad.mit.edu 37 19 47549926 47549926 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr19:47549926G>A ENST00000253047.6 - 2 241 c.226C>T c.(226-228)Cgc>Tgc p.R76C NM_017854.1 NP_060324.1 Q9NX00 TM160_HUMAN transmembrane protein 160 76 integral to membrane lung(1) 1 all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242) AGGCCATTGCGGAACCAGGAG 0.612000 4 186 0 0 0.184627 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 43 0 0 0.184627 0 0 ATP1A2 477 broad.mit.edu 37 1 160098456 160098456 + Silent SNP G G C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr1:160098456G>C ENST00000361216.3 + 9 1121 c.1032G>C c.(1030-1032)ctG>ctC p.L344L ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 344 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGACCCTGACAGCCAAGC 0.572000 3 104 0 0 0.115264 0 0 TCAP 8557 broad.mit.edu 37 17 37822184 37822184 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:37822184C>T ENST00000309889.2 + 2 1499 c.326C>T c.(325-327)aCc>aTc p.T109I TCAP_ENST00000578283.1_Missense_Mutation_p.T85I O15273 TELT_HUMAN titin-cap 109 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGTGAGGACACCCCCATCCAG 0.662000 17 15 0 0 0.500413 0 0 GAPVD1 26130 broad.mit.edu 37 9 128099547 128099547 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:128099547C>T ENST00000470056.1 + 15 2714 c.2554C>T c.(2554-2556)Cat>Tat p.H852Y GAPVD1_ENST00000495955.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 852 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TAGGCCATCGCATCCACCACC 0.478000 22 37 0 0 0.639603 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227778 37227778 + Silent SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr2:37227778T>C ENST00000233099.5 - 33 5591 c.5496A>G c.(5494-5496)acA>acG p.T1832T HEATR5B_ENST00000354531.2_Silent_p.T1743T NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1832 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GAATCAGAGCTGTCCACTGTT 0.428000 53 98 0 0 0.870114 0 0 XYLB 9942 broad.mit.edu 37 3 38420767 38420767 + Nonsense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr3:38420767C>T ENST00000207870.3 + 15 1315 c.1225C>T c.(1225-1227)Cga>Tga p.R409* XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 409 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TGTGGAGGTTCGAGCACTAAT 0.527000 65 67 0 0 0.870114 0 0 MUC4 4585 broad.mit.edu 37 3 195509886 195509886 + Silent SNP G G C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr3:195509886G>C ENST00000463781.3 - 2 9024 c.8565C>G c.(8563-8565)tcC>tcG p.S2855S MUC4_ENST00000475231.1_Silent_p.S2855S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 603 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGACACTGAGGAAGCGTCGG 0.587000 3 6 0 0 0.115264 0 0 HDLBP 3069 broad.mit.edu 37 2 242179484 242179484 + Missense_Mutation SNP G G C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr2:242179484G>C ENST00000391975.1 - 18 2450 c.2223C>G c.(2221-2223)ttC>ttG p.F741L HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 741 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TGCCGATGAGGAATTTGTGGT 0.557000 64 95 0 0 0.870114 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 5 126 0 0 0.184627 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 3 97 0 0 0.150653 0 0 LAMC2 3918 broad.mit.edu 37 1 183208652 183208652 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr1:183208652A>G ENST00000264144.4 + 20 3088 c.3023A>G c.(3022-3024)aAg>aGg p.K1008R LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R|LAMC2_ENST00000461729.1_3'UTR NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 1008 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CAGAGGGCAAAGAATGGGGCC 0.542000 43 77 0 0 0.870114 0 0 CFHR4 10877 broad.mit.edu 37 1 196883707 196883707 + Silent SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr1:196883707C>T ENST00000367416.2 + 8 1397 c.1260C>T c.(1258-1260)taC>taT p.Y420Y CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.Y174Y|CFHR4_ENST00000251424.4_Silent_p.Y174Y NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 CATTGGACTACGAATGCTACG 0.393000 5 107 0 0 0.248553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 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 42 60 0 0 0.859065 0 0 EIF3F 8665 broad.mit.edu 37 11 8015971 8015971 + Splice_Site SNP A A T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr11:8015971A>T ENST00000533626.1 + 7 1279 c.e7-1 EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCTTCCGCAGCACTTTAAT 0.512000 7 26 0 0 0.248553 0 0 MMP16 4325 broad.mit.edu 37 8 89053760 89053760 + Missense_Mutation SNP A A T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr8:89053760A>T ENST00000286614.6 - 10 2034 c.1753T>A c.(1753-1755)Ttc>Atc p.F585I NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 585 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTGAACTGGAACACAGTGTAA 0.443000 4 119 0 0 0.184627 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 41 0 0 0.150653 0 0 MEP1A 4224 broad.mit.edu 37 6 46766859 46766859 + Missense_Mutation SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:46766859T>C ENST00000230588.4 + 5 212 c.203T>C c.(202-204)cTg>cCg p.L68P NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 68 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AGAAATGGCCTGAGAGACCCA 0.428000 3 126 0 0 0.150653 0 0 LDHA 3939 broad.mit.edu 37 11 18421059 18421059 + Missense_Mutation SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr11:18421059C>G ENST00000422447.3 + 3 481 c.208C>G c.(208-210)Ctt>Gtt p.L70V LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V|LDHA_ENST00000540430.1_Missense_Mutation_p.L99V NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 70 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) ACATGGCAGCCTTTTCCTTAG 0.378000 52 79 0 0 0.870114 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850291 14850291 + Silent SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr18:14850291T>C ENST00000358984.4 + 35 3297 c.3117T>C c.(3115-3117)ctT>ctC p.L1039L NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1124 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAGAGCAACTTAGGAAAAAGT 0.294000 13 13 0 0 0.457914 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 2 4 --- --- --- --- RP11-328M4.3 0 broad.mit.edu 37 6 41472771 41472772 + RNA INS - - C rs151305500 by1000genomes TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:41472771_41472772insC ENST00000416951.1 + 0 339 RP11-328M4.2_ENST00000440194.1_RNA cctcctTCGTACCCCCCCCCGC 0.673 2 4 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 2 4 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr12:88512304_88512305insT ENST00000552810.1 - 17 2009_2010 c.1666_1667insA c.(1666-1668)tcgfs p.S556fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 556 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGACGAATTTTTTTTTTC 0.312 4 4 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21854023 21854025 + In_Frame_Del DEL GGT GGT - TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr14:21854023_21854025delGGT ENST00000399982.2 - 37 7557_7559 c.7493_7495delACC c.(7492-7497)ccc>c p.HP2500del CHD8_ENST00000430710.3_In_Frame_Del_p.HP2221del|CHD8_ENST00000557364.1_In_Frame_Del_p.HP2500del NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2500 His-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) tgggggtgggggtggtggtggtg 0.571 2 4 --- --- --- --- OAZ1 4946 broad.mit.edu 37 19 2272779 2272779 + Frame_Shift_Del DEL C C - TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr19:2272779delC ENST00000583542.3 + 5 613 c.534delC c.(532-534)gafs p.D178fs OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Frame_Shift_Del_p.D170fs|OAZ1_ENST00000582888.3_Frame_Shift_Del_p.D168fs|OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 170 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) L-Ornithine(DB00129) TGCGAGCCGACCATGTCTTCA 0.632 2 4 --- --- --- --- ATP5SL 55101 broad.mit.edu 37 19 41939275 41939276 + Frame_Shift_Del DEL GA GA - TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr19:41939275_41939276delGA ENST00000221943.9 - 5 502_503 c.497_498delTC c.(496-498)cfs p.L166fs ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000595425.1_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.L172fs|ATP5SL_ENST00000590641.2_Frame_Shift_Del_p.L145fs NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 166 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 AGAGGCGGCTGAGACACCAGTC 0.683 10 97 --- --- --- ---