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 IMPG1 3617 broad.mit.edu 37 6 76657112 76657112 + Missense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr6:76657112C>T ENST00000369950.3 - 14 2152 c.1963G>A c.(1963-1965)Ggg>Agg p.G655R IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 655 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCCAAGACCCCGTGCACAGCC 0.448000 13 47 0 0 0.411799 0 0 HDHD2 84064 broad.mit.edu 37 18 44656634 44656634 + Missense_Mutation SNP T T G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr18:44656634T>G ENST00000300605.6 - 4 528 c.376A>C c.(376-378)Att>Ctt p.I126L HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 126 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 TGATTCAGAATTTGATAATGA 0.353000 7 77 0 0 0.278610 0 0 CNOT1 23019 broad.mit.edu 37 16 58565875 58565875 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr16:58565875G>A ENST00000317147.5 - 42 6496 c.6164C>T c.(6163-6165)aCg>aTg p.T2055M CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2055 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTGCTGTGGCGTATGTGCCAG 0.423000 16 95 0 0 0.520397 0 0 IGLV7-43 0 broad.mit.edu 37 22 22749730 22749730 + RNA SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr22:22749730G>A ENST00000390298.2 + 0 288 CGGTTCTCAGGCTCCCTCCTT 0.552000 5 51 0 0 0.184627 0 0 LPHN3 23284 broad.mit.edu 37 4 62453140 62453140 + Missense_Mutation SNP A A G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr4:62453140A>G ENST00000512091.1 + 4 998 c.251A>G c.(250-252)tAt>tGt p.Y84C LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C Q9HAR2 LPHN3_HUMAN latrophilin 3 84 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CCAGATGCCTATAAGATTATG 0.363000 6 18 0 0 0.248553 0 0 DNAH5 1767 broad.mit.edu 37 5 13736040 13736040 + Splice_Site SNP C C G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr5:13736040C>G ENST00000265104.4 - 67 11561 c.11455_splice c.e67-1 p.V3819_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3819 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCGCGTAGCCACTGGAAGAC 0.443000 Kartagener syndrome 10 47 0 0 0.335167 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20616214 20616214 + Missense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr20:20616214C>T ENST00000202677.6 - 9 995 c.853G>A c.(853-855)Gac>Aac p.D285N NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 285 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTCTCATTGTCTCGAGTGGTA 0.343000 21 137 0 0 0.608945 0 0 PBRM1 55193 broad.mit.edu 37 3 52643532 52643532 + Silent SNP T T A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr3:52643532T>A ENST00000356770.4 - 15 2270 c.2268A>T c.(2266-2268)tcA>tcT p.S756S PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S|PBRM1_ENST00000296302.7_Silent_p.S788S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000337303.4_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S Q86U86 PB1_HUMAN polybromo 1 788 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GACTCATGACTGACACAAAAA 0.453000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 5 70 0 0 0.217242 0 0 PCDHB2 0 broad.mit.edu 37 5 140474488 140474488 + Silent SNP C C T rs142513918 byFrequency TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr5:140474488C>T ENST00000194155.4 + 1 262 c.114C>T c.(112-114)gcC>gcT p.A38A NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 38 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCAGTGGCCGAGGAAACGG 0.532000 3 51 0 0 0.115264 0 0 GLI2 2736 broad.mit.edu 37 2 121684944 121684944 + Silent SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr2:121684944G>A ENST00000452319.1 + 3 216 c.156G>A c.(154-156)caG>caA p.Q52Q GLI2_ENST00000361492.4_Silent_p.Q52Q|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 52 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CAGTGCCGCAGCATCTCTTGC 0.502000 10 159 0 0 0.361761 0 0 TRBV6-7 0 broad.mit.edu 37 7 142144058 142144058 + RNA SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr7:142144058C>T ENST00000390373.2 - 0 26 GAGAAAAGGCCACACAGCACA 0.602000 5 170 0 0 0.361761 0 0 GNAS 2778 broad.mit.edu 37 20 57415453 57415453 + Missense_Mutation SNP C C A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr20:57415453C>A ENST00000313949.7 + 1 681 c.292C>A c.(292-294)Ccc>Acc p.P98T GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T P63092 GNAS2_HUMAN GNAS complex locus 100 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTGTCCCTCCCCGAGTGCCT 0.617000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 22 52 1.10923e-09 1.21007e-09 0.639603 1 0 NXF3 56000 broad.mit.edu 37 X 102338548 102338548 + Missense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chrX:102338548C>T ENST00000395065.3 - 4 525 c.424G>A c.(424-426)Gtc>Atc p.V142I NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 142 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCAACTGGGACGAAGGGTACA 0.458000 35 54 0 0 0.812448 0 0 CACNG3 10368 broad.mit.edu 37 16 24372780 24372780 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr16:24372780G>A ENST00000005284.3 + 4 1746 c.544G>A c.(544-546)Gga>Aga p.G182R NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 182 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CTTTTATTTCGGAGCCTTCTC 0.453000 26 119 0 0 0.693898 0 0 VRK2 7444 broad.mit.edu 37 2 58311264 58311264 + Silent SNP A A G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr2:58311264A>G ENST00000435505.2 + 6 922 c.177A>G c.(175-177)gtA>gtG p.V59V VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V|VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000412104.2_Silent_p.V59V Q86Y07 VRK2_HUMAN vaccinia related kinase 2 59 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 CAAGACATGTAGTAAAAGTGG 0.308000 12 36 0 0 0.457914 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257198 41257198 + Silent SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr22:41257198C>T ENST00000307221.4 - 1 932 c.801G>A c.(799-801)gaG>gaA p.E267E XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 267 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 ATATACCTCCCTCATCATTGT 0.423000 13 85 0 0 0.435327 0 0 HAL 3034 broad.mit.edu 37 12 96389484 96389484 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr12:96389484G>A ENST00000261208.3 - 2 573 c.205C>T c.(205-207)Cgg>Tgg p.R69W HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.R69W NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 69 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) ACCTCGAGCCGGTCCTCGTTG 0.612000 6 25 0 0 0.217242 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117735 46117735 + Missense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr21:46117735C>T ENST00000400365.3 + 1 649 c.619C>T c.(619-621)Cgc>Tgc p.R207C TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 207 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 CAGACCCGCCCGCCGCGTGCC 0.716000 21 60 0 0 0.654019 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439615 150439615 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr7:150439615G>A ENST00000358647.3 + 3 755 c.388G>A c.(388-390)Gcc>Acc p.A130T GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGACACAGTGGCCATCAGGAA 0.592000 63 65 0 0 0.870114 0 0 PRKDC 5591 broad.mit.edu 37 8 48744441 48744441 + Missense_Mutation SNP C C A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr8:48744441C>A ENST00000314191.2 - 61 8252 c.8196G>T c.(8194-8196)atG>atT p.M2732I PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2733 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCTGGTCCCTCATAAACCGTC 0.542000 Non-homologous end-joining 26 154 6.07407e-21 6.74897e-21 0.717897 1 0 TRPV2 51393 broad.mit.edu 37 17 16336965 16336965 + Silent SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr17:16336965C>T ENST00000338560.7 + 13 2466 c.2067C>T c.(2065-2067)acC>acT p.T689T TRPV2_ENST00000577397.1_Silent_p.T259T NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 689 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGATGCTGACCGTTGGCACTA 0.587000 17 71 0 0 0.520397 0 0 OR10H5 284433 broad.mit.edu 37 19 15905003 15905003 + Missense_Mutation SNP G G C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr19:15905003G>C ENST00000308940.8 + 1 243 c.145G>C c.(145-147)Gtc>Ctc p.V49L NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CATGGCCACTGTCTGGAGCGA 0.597000 6 75 0 0 0.248553 0 0 TICAM1 148022 broad.mit.edu 37 19 4817206 4817206 + Missense_Mutation SNP T T C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr19:4817206T>C ENST00000248244.5 - 2 1413 c.1184A>G c.(1183-1185)tAt>tGt p.Y395C NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 395 TIR. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CACAAAGTTATAGAATTTCTG 0.592000 23 25 0 0 0.608945 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72657872 72657872 + RNA SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr7:72657872G>A ENST00000425256.1 - 0 2039 NR_002164.1 cagatgcatcgtcatgtcaac 0.498000 4 133 0 0 0.150653 0 0 PER1 5187 broad.mit.edu 37 17 8054005 8054005 + Missense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr17:8054005C>T ENST00000317276.4 - 2 257 c.20G>A c.(19-21)gGg>gAg p.G7E PER1_ENST00000581082.1_Missense_Mutation_p.G7E|PER1_ENST00000354903.5_Intron NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 7 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCCATCAGCCCCTTCTAGGGG 0.677000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 23 0 0 0.184627 0 0 LETMD1 25875 broad.mit.edu 37 12 51450230 51450230 + Missense_Mutation SNP A A G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr12:51450230A>G ENST00000418425.2 + 7 918 c.899A>G c.(898-900)gAc>gGc p.D300G LETMD1_ENST00000262055.4_Missense_Mutation_p.D287G|LETMD1_ENST00000552739.1_Missense_Mutation_p.D170G|LETMD1_ENST00000550929.1_Missense_Mutation_p.D231G|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.D163G|LETMD1_ENST00000380123.2_3'UTR NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 287 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 CACCAACTGGACAAGGCTTTG 0.498000 4 117 0 0 0.184627 0 0 SMC2 10592 broad.mit.edu 37 9 106860785 106860785 + Missense_Mutation SNP G G C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr9:106860785G>C ENST00000286398.7 + 4 665 c.377G>C c.(376-378)aGa>aCa p.R126T SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 126 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AACAACACCAGAGTACAGGAT 0.338000 6 113 0 0 0.248553 0 0 COPA 1314 broad.mit.edu 37 1 160268752 160268752 + Silent SNP T T C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr1:160268752T>C ENST00000241704.7 - 19 2089 c.1860A>G c.(1858-1860)ctA>ctG p.L620L COPA_ENST00000368069.3_Silent_p.L629L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 620 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTGGCCAACTAGTTTGGCAT 0.443000 16 62 0 0 0.539581 0 0 DONSON 29980 broad.mit.edu 37 21 34958408 34958408 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr21:34958408G>A ENST00000453626.1 - 3 486 c.482C>T c.(481-483)aCg>aTg p.T161M AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M|DONSON_ENST00000303071.5_Missense_Mutation_p.T161M|DONSON_ENST00000303113.6_Missense_Mutation_p.T161M Q9NYP3 DONS_HUMAN downstream neighbor of SON 161 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 AAGGAGTCGCGTTTTAATACT 0.433000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 58 0 0 0.278610 0 0 PCDH15 65217 broad.mit.edu 37 10 55569195 55569195 + Missense_Mutation SNP T T C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr10:55569195T>C ENST00000395445.1 - 36 5009 c.4615A>G c.(4615-4617)Aca>Gca p.T1539A PCDH15_ENST00000395446.1_Missense_Mutation_p.T735A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.T404A NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTCTTCCATGTTGTGTATGTA 0.403000 HNSCC(58;0.16) 8 137 0 0 0.335167 0 0 TNXB 7148 broad.mit.edu 37 6 32030161 32030161 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr6:32030161G>A ENST00000375244.3 - 20 7142 c.6941C>T c.(6940-6942)gCg>gTg p.A2314V TNXB_ENST00000375247.2_Missense_Mutation_p.A2314V P22105 TENX_HUMAN tenascin XB 2376 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTCAGGGGTCGCATCTGTCAC 0.612000 3 26 0 0 0.115264 0 0 ART3 419 broad.mit.edu 37 4 77018807 77018807 + Silent SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr4:77018807C>T ENST00000355810.4 + 4 911 c.792C>T c.(790-792)acC>acT p.T264T ART3_ENST00000349321.3_Silent_p.T264T|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 264 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GACTAAAAACCGAAAACTGTA 0.328000 21 53 0 0 0.592651 0 0 GGT3P 0 broad.mit.edu 37 22 18778652 18778652 + RNA SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr22:18778652C>T ENST00000412448.1 - 0 753 CCTTGGAGGCCGAGGGCAGCC 0.632000 3 3 0 0 0.184627 0 0 EPPK1 83481 broad.mit.edu 37 8 144945366 144945366 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr8:144945366G>A ENST00000525985.1 - 2 2127 c.2056C>T c.(2056-2058)Cgc>Tgc p.R686C P58107 EPIPL_HUMAN epiplakin 1 686 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGACAGCGCGCTCAGCCGAC 0.617000 8 27 0 0 0.307466 0 0 FUBP1 8880 broad.mit.edu 37 1 78444686 78444686 + Translation_Start_Site SNP C C A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr1:78444686C>A ENST00000370767.1 - 1 90 c.3G>T c.(1-3)atG>atT p.M1I FUBP1_ENST00000436586.2_Start_Codon_SNP_p.M1I|FUBP1_ENST00000370768.2_Start_Codon_SNP_p.M1I Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 1 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 AATAGTCTGCCATGGTTGCAC 0.542000 """F, N""" oligodendroglioma 5 21 0.184627 0.187757 0.184627 1 0 SLC20A1 6574 broad.mit.edu 37 2 113416617 113416617 + Missense_Mutation SNP A A G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr2:113416617A>G ENST00000272542.3 + 7 1533 c.994A>G c.(994-996)Agg>Ggg p.R332G SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 332 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGAGAGAGAGAGGCTTCCCAG 0.517000 3 62 0 0 0.115264 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606296 84606296 + Nonsense_Mutation SNP T T A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr9:84606296T>A ENST00000344803.2 + 4 958 c.911T>A c.(910-912)tTa>tAa p.L304* NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCATCTGCTTTACCACCGGAA 0.468000 58 216 0 0 0.870114 0 0 SERPINI1 5274 broad.mit.edu 37 3 167508323 167508323 + Silent SNP T T C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr3:167508323T>C ENST00000295777.5 + 3 845 c.414T>C c.(412-414)caT>caC p.H138H SERPINI1_ENST00000446050.2_Silent_p.H138H NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 138 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 CAGTAAATCATGTGGACTTCA 0.363000 21 34 0 0 0.592651 0 0 ECE1 1889 broad.mit.edu 37 1 21564631 21564631 + Missense_Mutation SNP C C A rs141146885 byFrequency TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr1:21564631C>A ENST00000415912.2 - 11 1462 c.1337G>T c.(1336-1338)aGc>aTc p.S446I ECE1_ENST00000436918.2_Missense_Mutation_p.S462I|ECE1_ENST00000374893.6_Missense_Mutation_p.S462I|ECE1_ENST00000357071.4_Missense_Mutation_p.S450I|ECE1_ENST00000264205.6_Missense_Mutation_p.S459I NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 462 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ACTTACTATGCTCTTGCTGTC 0.562000 6 19 0.00116845 0.00122994 0.217242 1 0 DDA1 79016 broad.mit.edu 37 19 17425150 17425150 + Nonsense_Mutation SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr19:17425150C>T ENST00000359866.4 + 3 212 c.88C>T c.(88-90)Cga>Tga p.R30* NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 30 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 CCTGCAGAACCGACGGCCCTC 0.607000 5 36 0 0 0.217242 0 0 IL12RB1 0 broad.mit.edu 37 19 18191676 18191676 + Silent SNP C C T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr19:18191676C>T ENST00000600835.1 - 5 678 c.375G>A c.(373-375)aaG>aaA p.K125K IL12RB1_ENST00000430026.2_Silent_p.K125K|IL12RB1_ENST00000593993.1_Silent_p.K125K|IL12RB1_ENST00000322153.6_Silent_p.K125K P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 125 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCTCAGGAGACTTCTCTGTCT 0.587000 18 45 0 0 0.539581 0 0 FAM193A 8603 broad.mit.edu 37 4 2702268 2702268 + Missense_Mutation SNP A A G TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr4:2702268A>G ENST00000324666.5 + 17 3847 c.3496A>G c.(3496-3498)Att>Gtt p.I1166V FAM193A_ENST00000382839.3_Missense_Mutation_p.I1166V|FAM193A_ENST00000545951.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000502458.1_Missense_Mutation_p.I1188V|FAM193A_ENST00000505311.1_Missense_Mutation_p.I1166V NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1166 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CAACAATTCAATTGGTAAATA 0.458000 3 30 0 0 0.115264 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 22 36 0 0 0.592651 0 0 LEMD3 23592 broad.mit.edu 37 12 65639990 65639990 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr12:65639990G>A ENST00000308330.2 + 13 2647 c.2621G>A c.(2620-2622)cGc>cAc p.R874H NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 874 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) TACCACCATCGCTTTCCCCAG 0.358000 4 88 0 0 0.150653 0 0 CUBN 8029 broad.mit.edu 37 10 16877063 16877063 + Missense_Mutation SNP G G T TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr10:16877063G>T ENST00000377833.4 - 64 10377 c.10312C>A c.(10312-10314)Cat>Aat p.H3438N NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3438 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAAGTGAATGAAAAAAGAGG 0.428000 16 67 6.31663e-08 6.76781e-08 0.479597 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455100 187455100 + Missense_Mutation SNP C C T rs148793802 TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr4:187455100C>T ENST00000307161.5 - 2 997 c.796G>A c.(796-798)Gcc>Acc p.A266T RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 266 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ACCATGCTGGCGGGGTCAGAG 0.507000 6 83 0 0 0.278610 0 0 RELL2 285613 broad.mit.edu 37 5 141019513 141019513 + Missense_Mutation SNP G G C rs143590565 byFrequency TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr5:141019513G>C ENST00000297164.3 + 5 1730 c.530G>C c.(529-531)cGc>cCc p.R177P FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.R111P|RELL2_ENST00000444782.1_Missense_Mutation_p.R177P|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R111P|FCHSD1_ENST00000435817.2_3'UTR NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 177 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGAGAAGCGCTATGGACTG 0.647000 3 55 0 0 0.115264 0 0 TPM1 7168 broad.mit.edu 37 15 63354774 63354774 + Splice_Site SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr15:63354774G>A ENST00000357980.4 + 9 907 c.e9-1 TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000334895.5_Splice_Site|TPM1_ENST00000559281.1_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000403994.3_Splice_Site|TPM1_ENST00000317516.7_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000560445.1_Intron P09493 TPM1_HUMAN tropomyosin 1 (alpha) cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle endometrium(1)|large_intestine(1)|lung(2) 4 AATCATTACAGGCTGAGACTC 0.358000 14 56 0 0 0.500413 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070194 114070194 + Missense_Mutation SNP T T C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr3:114070194T>C ENST00000462705.1 - 11 1333 c.512A>G c.(511-513)tAc>tGc p.Y171C ZBTB20_ENST00000474710.1_Missense_Mutation_p.Y244C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GAGTGCCGAGTAGATCCTGTC 0.667000 11 62 0 0 0.361761 0 0 KY 339855 broad.mit.edu 37 3 134369693 134369693 + Missense_Mutation SNP G G A TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr3:134369693G>A ENST00000508956.1 - 1 167 c.110C>T c.(109-111)cCg>cTg p.P37L KY_ENST00000423778.2_Missense_Mutation_p.P37L|KY_ENST00000503669.1_Missense_Mutation_p.P37L Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 37 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CAGCGAGCTCGGGTTCGCCTG 0.682000 5 13 0 0 0.184627 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 6 4 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 2 4 --- --- --- --- ABCC6P1 0 broad.mit.edu 37 16 18593649 18593649 + RNA DEL A A - TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr16:18593649delA ENST00000546162.2 + 0 805 NR_003569.1 ccctgtctcgaaaaaaaaaaa 0.507 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-DU-5849-01A-11D-1705-08 TCGA-DU-5849-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcde1486-c728-4841-ab69-c8cb16706fc2 189c09ae-f5aa-4b68-89d8-65eb6bc57683 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 9 12 --- --- --- ---