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 ACOXL 55289 broad.mit.edu 37 2 111556628 111556628 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:111556628C>T ENST00000389811.4 + 7 722 c.498C>T c.(496-498)aaC>aaT p.N166N ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 166 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GGGATGAAAACGGAAGCTTGT 0.502000 71 455 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161852 90161852 + RNA SNP A A G rs11076666 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:90161852A>G ENST00000567960.1 + 0 588 TUBB8P7_ENST00000564451.1_RNA TAGAAAACGCAGATGAGACCT 0.498000 5 503 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22281145 22281145 + Silent SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:22281145A>G ENST00000324559.8 + 15 1805 c.1488A>G c.(1486-1488)gaA>gaG p.E496E NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 496 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTTTCATGGAAAGTGATGCAT 0.413000 37 289 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745297 135745297 + Missense_Mutation SNP T T C rs138047676 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:135745297T>C ENST00000375845.3 - 7 1175 c.1145A>G c.(1144-1146)cAa>cGa p.Q382R MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TTCTGGATCTTGTTCATAGTT 0.373000 46 271 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237570 56237570 + Nonsense_Mutation SNP G G C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:56237570G>C ENST00000312240.2 - 1 444 c.404C>G c.(403-405)tCa>tGa p.S135* NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GACAACCCTTGACATTTTACT 0.408000 8 614 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42912459 42912459 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:42912459G>A ENST00000244289.4 - 3 1711 c.1435C>T c.(1435-1437)Cgg>Tgg p.R479W LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 479 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding p.R479W(1) breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGGAATGGCCGGATGGCAGGC 0.627000 5 608 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 5 97 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44280710 44280710 + Missense_Mutation SNP G G C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:44280710G>C ENST00000262888.3 - 2 633 c.238C>G c.(238-240)Cat>Gat p.H80D NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 80 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TCTTTGGCATGAAAGGCCACG 0.592000 32 225 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354107 28354107 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:28354107C>T ENST00000532254.1 - 7 1784 c.1099G>A c.(1099-1101)Gag>Aag p.E367K NPIPB6_ENST00000533640.1_Missense_Mutation_p.E349K nuclear pore complex interacting protein family, member B6 TGTTCCACctcatccaccctc 0.557000 5 77 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 372045 372045 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:372045T>C ENST00000217233.3 + 3 959 c.406T>C c.(406-408)Ttt>Ctt p.F136L TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 136 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CCTCTACGCCTTTTTCACTCG 0.672000 4 284 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135883 55135883 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:55135883C>T ENST00000314706.3 + 1 524 c.524C>T c.(523-525)gCg>gTg p.A175V NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGCTGTTGGCGGCCTGGATT 0.443000 6 778 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67183986 67183986 + Silent SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:67183986C>A ENST00000269081.4 - 20 3075 c.2166G>T c.(2164-2166)gtG>gtT p.V722V ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 722 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TATTTCTTGTCACATGTATTT 0.348000 29 177 1.74807e-11 1.89307e-11 1 1 0 ZNF484 83744 broad.mit.edu 37 9 95609448 95609448 + Missense_Mutation SNP T T A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:95609448T>A ENST00000395505.2 - 3 1605 c.1513A>T c.(1513-1515)Ata>Tta p.I505L ZNF484_ENST00000332591.6_Missense_Mutation_p.I505L|ZNF484_ENST00000375495.3_Missense_Mutation_p.I541L|ZNF484_ENST00000395506.3_Missense_Mutation_p.I543L|ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TTCTGATGTATCCTGAGCCGA 0.398000 6 808 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 5 223 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27807459 27807459 + Missense_Mutation SNP A A T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:27807459A>T ENST00000261716.3 + 7 1042 c.523A>T c.(523-525)Atg>Ttg p.M175L TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 175 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CTCTGCTTCCATGGCATCACC 0.418000 4 169 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33289706 33289706 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:33289706G>A ENST00000269195.5 + 11 1755 c.1652G>A c.(1651-1653)cGa>cAa p.R551Q GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 551 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 TGGCTTCTTCGAAACGTCACC 0.453000 29 153 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165953881 165953881 + Missense_Mutation SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:165953881C>A ENST00000360093.3 - 23 4611 c.4120G>T c.(4120-4122)Gac>Tac p.D1374Y SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1374 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCACTAATGTCAAACATGTTA 0.423000 39 247 1.30998e-17 1.4521e-17 1 1 0 FAM105A 54491 broad.mit.edu 37 5 14610393 14610393 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:14610393C>T ENST00000274217.3 + 8 1161 c.1041C>T c.(1039-1041)aaC>aaT p.N347N NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 347 p.N347N(1) large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TGACCGAGAACGACCGCCACT 0.532000 36 385 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245318761 245318761 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:245318761C>T ENST00000407071.2 + 1 475 c.35C>T c.(34-36)gCg>gTg p.A12V NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 12 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GAGAGGCTTGCGGTCTCCACC 0.567000 15 80 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 4 169 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46739341 46739341 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:46739341G>A ENST00000371975.4 + 14 2206 c.1532G>A c.(1531-1533)cGt>cAt p.R511H RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H|RAD54L_ENST00000488942.1_3'UTR NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 511 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) ACCCGAAGCCGTAGCAGTGAC 0.542000 Direct reversal of damage;Homologous recombination 4 159 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44069850 44069850 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:44069850G>A ENST00000359947.4 + 16 3367 c.3027G>A c.(3025-3027)ccG>ccA p.P1009P PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1009 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.P999P(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGACCATGCCGGTGGAGCAAG 0.622000 5 304 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682486 126682486 + Silent SNP T T C rs76949963 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:126682486T>C ENST00000309035.6 - 6 2599 c.2469A>G c.(2467-2469)caA>caG p.Q823Q CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 283 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTGAGGGCTTGTGCTAAGG 0.617000 10 867 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 12 97 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235183 5235183 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:5235183A>G ENST00000274181.7 + 13 2045 c.1907A>G c.(1906-1908)aAc>aGc p.N636S ADAMTS16_ENST00000513709.1_3'UTR NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 636 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AAGCTCTGCAACAGTCAGAAA 0.502000 39 392 0 0 1 0 0 PEX19 5824 broad.mit.edu 37 1 160250012 160250012 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:160250012G>A ENST00000368072.5 - 6 640 c.619C>T c.(619-621)Cgg>Tgg p.R207W DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGAGATTCCCGATGACTCTGC 0.428000 7 646 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113656268 113656268 + Missense_Mutation SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr13:113656268C>A ENST00000423482.2 + 1 238 c.44C>A c.(43-45)gCg>gAg p.A15E MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron NM_024979.4 NP_079255.4 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 0 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GACCTCTGGGCGCTGTGGCTG 0.756000 4 113 2.56e-06 2.68571e-06 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105026802 105026802 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:105026802G>A ENST00000507740.1 + 17 2971 c.2735G>A c.(2734-2736)cGa>cAa p.R912Q RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1160 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CGAAGGGGCCGACAGCTTCCA 0.443000 HNSCC(12;0.0054) 24 178 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121544428 121544428 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:121544428G>T ENST00000275159.6 - 21 2434 c.2435C>A c.(2434-2436)cCt>cAt p.P812H TBC1D32_ENST00000398212.2_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 TGTTTTATTAGGAAGATCTTG 0.318000 30 238 9.39395e-14 1.03158e-13 1 1 0 EVC 2121 broad.mit.edu 37 4 5798842 5798842 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:5798842G>A ENST00000382674.2 + 14 2164 c.1980G>A c.(1978-1980)acG>acA p.T660T EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.T660T P57679 EVC_HUMAN Ellis van Creveld syndrome 660 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CCACCCTGACGCAGATGCGGC 0.672000 41 257 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36029011 36029011 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:36029011G>A ENST00000373243.2 + 5 1977 c.1594G>A c.(1594-1596)Gca>Aca p.A532T NCDN_ENST00000356090.4_Missense_Mutation_p.A532T|NCDN_ENST00000373253.3_Missense_Mutation_p.A515T NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 532 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CGTGGTCACCGCACCGGGGCT 0.627000 6 476 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30723222 30723222 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:30723222G>A ENST00000361762.2 + 1 1186 c.178G>A c.(178-180)Gga>Aga p.G60R PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 60 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CATCGTGACCGGATCGGGTGA 0.677000 4 230 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11868565 11868565 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:11868565G>A ENST00000334049.6 + 9 1542 c.934G>A c.(934-936)Gca>Aca p.A312T GNAL_ENST00000535121.1_Missense_Mutation_p.A235T|GNAL_ENST00000423027.3_Missense_Mutation_p.A235T|GNAL_ENST00000602628.1_Missense_Mutation_p.A28T|GNAL_ENST00000269162.5_Missense_Mutation_p.A235T|GNAL_ENST00000535980.1_3'UTR NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 235 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 CATTTACGTCGCAGCCTGCAG 0.468000 5 388 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732603 88732603 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:88732603C>T ENST00000226284.5 + 7 562 c.495C>T c.(493-495)agC>agT p.S165S NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 165 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification p.S165S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) acgaagaaagcgaagcagaag 0.458000 16 105 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2979735 2979735 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:2979735G>A ENST00000399667.2 + 3 412 c.49G>A c.(49-51)Ggc>Agc p.G17S FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.G17S Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 17 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 TGTGAAGGCCGGCCAGGAGCC 0.692000 4 124 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799006 42799006 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:42799006A>G ENST00000572681.2 + 21 7276 c.7208A>G c.(7207-7209)tAt>tGt p.Y2403C CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C Q96RK0 CIC_HUMAN capicua transcriptional repressor 1497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAGGCCCGCTATGCAGACATC 0.587000 """Mis, F, S""" oligodendroglioma 55 486 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119394769 119394769 + Missense_Mutation SNP G G C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:119394769G>C ENST00000371369.4 - 9 1160 c.934C>G c.(934-936)Ccc>Gcc p.P312A TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000309720.5_Missense_Mutation_p.P336A NM_001104544.1 NP_001098014.1 transmembrane protein 255A GGATAGTAGGGTGGAGAGTAA 0.517000 4 193 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510463 169510463 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:169510463A>G ENST00000367796.3 - 13 4081 c.3880T>C c.(3880-3882)Ttc>Ctc p.F1294L F5_ENST00000367797.3_Missense_Mutation_p.F1289L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGCTGAAGTCTAGAGAA 0.517000 9 1475 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913803 67913803 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:67913803C>T ENST00000358933.5 + 16 2111 c.1872C>T c.(1870-1872)agC>agT p.S624S NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 624 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) gcagcagcagcagtagcagca 0.602000 6 325 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208257827 208257827 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:208257827G>A ENST00000367033.3 - 10 2953 c.2196C>T c.(2194-2196)tcC>tcT p.S732S NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 732 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTCGCTGGCCGGACTGCGGCT 0.592000 6 484 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 7 284 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18736985 18736985 + Missense_Mutation SNP C C G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:18736985C>G ENST00000513874.1 - 11 1664 c.1525G>C c.(1525-1527)Gtg>Ctg p.V509L RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 509 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTACCCTCCACAGTGACGATG 0.547000 68 462 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153723618 153723618 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:153723618C>T ENST00000456435.1 + 7 1200 c.14C>T c.(13-15)aCg>aTg p.T5M RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|INTS3_ENST00000476843.1_3'UTR Q68E01 INT3_HUMAN integrator complex subunit 3 212 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTGTTTACACGTACCTCCGC 0.567000 12 154 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 10 87 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37623503 37623503 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:37623503T>C ENST00000252011.3 + 8 655 c.622T>C c.(622-624)Tca>Cca p.S208P DHX35_ENST00000373325.2_Missense_Mutation_p.S208P|DHX35_ENST00000373323.4_Missense_Mutation_p.S177P NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 208 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GATTGTAGCTTCAGCCACTCT 0.408000 5 505 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109887 98109887 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:98109887A>G ENST00000383695.1 + 1 378 c.378A>G c.(376-378)atA>atG p.I126M RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 ATGTGGCCATATGCAACCCAC 0.478000 144 498 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121002 12121002 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:12121002T>C ENST00000379388.2 + 4 1306 c.974T>C c.(973-975)gTt>gCt p.V325A NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 325 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTTGAACAGGTTTATAATATA 0.423000 91 477 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627753 26627753 + Silent SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:26627753G>T ENST00000380573.3 - 3 2337 c.1314C>A c.(1312-1314)ccC>ccA p.P438P ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron P35348 ADA1A_HUMAN adrenoceptor alpha 1A 438 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TGGGGGTTGAGGGCCCTACAC 0.522000 6 733 0.0215528 0.0217378 1 1 0 PLG 5340 broad.mit.edu 37 6 161134091 161134091 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:161134091G>A ENST00000308192.9 + 5 544 c.481G>A c.(481-483)Ggg>Agg p.G161R PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 161 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGATCCGCAGGGGCCCTGGTG 0.478000 5 625 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401481 34401481 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:34401481C>T ENST00000373381.4 - 4 768 c.592G>A c.(592-594)Ggt>Agt p.G198S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 158 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCTTGTCACCGAGGTTGAAG 0.597000 66 520 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40015365 40015365 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:40015365G>A ENST00000336649.4 + 6 533 c.533G>A c.(532-534)cGc>cAc p.R178H CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R178H Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 178 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCAGCCATCCGCACCGTGCGC 0.617000 7 656 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 10 819 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 4 196 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953822 161953822 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:161953822G>A ENST00000294794.3 - 8 2319 c.1896C>T c.(1894-1896)atC>atT p.I632I OLFML2B_ENST00000367938.1_Silent_p.I115I|OLFML2B_ENST00000367940.2_Silent_p.I633I NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 632 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGGCCGGGTAGATGAGCCATA 0.617000 50 262 0 0 1 0 0 TMEM245 23731 broad.mit.edu 37 9 111812948 111812948 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:111812948T>C ENST00000374586.3 - 13 1910 c.1879A>G c.(1879-1881)Atg>Gtg p.M627V NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 627 integral to membrane TTCCGGCTCATAACGATCCAC 0.463000 6 232 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 7 1152 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324513 62324513 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:62324513C>T ENST00000318100.4 + 30 3696 c.2869C>T c.(2869-2871)Cgg>Tgg p.R957W RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 957 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCAGTTTGTGCGGCCCCACCA 0.597000 6 930 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 8 734 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62198297 62198297 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:62198297G>A ENST00000467148.1 - 6 2483 c.2414C>T c.(2413-2415)gCg>gTg p.A805V HELZ2_ENST00000427522.2_Missense_Mutation_p.A236V NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GACGACCTGCGCAATCTCAGC 0.672000 6 576 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 344 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695238 109695238 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:109695238G>A ENST00000465301.2 + 3 1639 c.1393G>A c.(1393-1395)Gca>Aca p.A465T RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 465 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AGTAATGTCCGCACAGTTAAC 0.512000 6 459 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 7 182 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157435503 157435503 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:157435503G>T ENST00000310454.6 + 14 2242 c.1870G>T c.(1870-1872)Gac>Tac p.D624Y GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 624 EF-hand 1. cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 ACTGCCTTCAGACATTGACAG 0.333000 35 400 2.47316e-13 2.70322e-13 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520509 33520509 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:33520509G>A ENST00000297307.5 - 1 903 c.818C>T c.(817-819)gCg>gTg p.A273V NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 273 DUF6 2. integral to membrane CTTGGTGACCGCATAGCCCAC 0.592000 7 796 0 0 1 0 0 COMMD5 28991 broad.mit.edu 37 8 146076505 146076505 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:146076505G>A ENST00000450361.2 - 2 640 c.219C>T c.(217-219)gtC>gtT p.V73V COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000305103.3_Silent_p.V73V NM_001081003.1 NP_001074472.1 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 73 nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1) 11 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GGTTGGCGCTGACCCCAAGAC 0.647000 33 187 0 0 1 0 0 LRRC40 55631 broad.mit.edu 37 1 70641617 70641617 + Missense_Mutation SNP G G C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:70641617G>C ENST00000370952.3 - 7 932 c.853C>G c.(853-855)Ctt>Gtt p.L285V NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 285 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 AGATGTTTAAGATGTTCTGCC 0.348000 15 229 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114377796 114377796 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:114377796C>T ENST00000545145.2 - 15 1985 c.1907G>A c.(1906-1908)cGc>cAc p.R636H RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 636 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAAGGCCTTGCGGGCCTCCAG 0.622000 8 532 0 0 1 0 0 HES1 3280 broad.mit.edu 37 3 193855656 193855656 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:193855656G>A ENST00000232424.3 + 4 713 c.477G>A c.(475-477)ccG>ccA p.P159P NM_005524.3 NP_005515.1 Q14469 HES1_HUMAN hes family bHLH transcription factor 1 159 Pro-rich. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) CCGGGCAGCCGCACCCCGCCT 0.746000 6 399 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112419833 112419833 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:112419833G>A ENST00000302475.4 - 8 1593 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R281W|MCC_ENST00000408903.3_Missense_Mutation_p.R534W NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 344 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGGACTGGCCGATCAGATGAT 0.438000 5 417 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 136997650 136997650 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:136997650A>G ENST00000508657.1 - 7 1325 c.611T>C c.(610-612)aTg>aCg p.M204T KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 236 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GACATGTTCCATCAGCTTTGC 0.443000 46 212 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 9 439 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071228 10071228 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:10071228C>T ENST00000264828.3 - 67 5182 c.5097G>A c.(5095-5097)cgG>cgA p.R1699R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1699 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTGTCCTTTCCGGAGCTGTC 0.587000 95 548 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 6 426 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150004721 150004721 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:150004721G>A ENST00000543571.1 - 4 2051 c.1504C>T c.(1504-1506)Cgt>Tgt p.R502C LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 502 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity p.R502C(1) central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTTAATACACGCATACTTTTC 0.443000 5 615 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140605 50140605 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:50140605C>T ENST00000371564.3 - 2 394 c.175G>A c.(175-177)Gca>Aca p.A59T NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 59 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.A59T(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCGGGGTATGCGGGTCCGGAG 0.592000 9 656 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120707 38120707 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:38120707C>T ENST00000406386.3 + 7 2399 c.2144C>T c.(2143-2145)aCc>aTc p.T715I RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 715 RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACAGAACCACCCAACAAGAG 0.577000 5 523 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 14 218 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26942089 26942089 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:26942089C>T ENST00000528896.2 - 39 6775 c.6701G>A c.(6700-6702)cGc>cAc p.R2234H KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000424210.1_RNA NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 2234 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AAATCATTTGCGCCTGCCAAA 0.562000 8 1334 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100460407 100460407 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:100460407G>A ENST00000354161.3 + 13 1941 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 606 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCACCCTCCGTGCGCCAGGG 0.637000 101 607 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 6 371 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39389179 39389179 + Silent SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:39389179C>A ENST00000411528.2 + 1 465 c.426C>A c.(424-426)acC>acA p.T142T NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 142 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGCAGGACCACTTGTTTCC 0.567000 7 812 3.41278e-10 3.66212e-10 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520540 33520540 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:33520540C>T ENST00000297307.5 - 1 872 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 263 integral to membrane p.A263T(1) GAGACCAAGGCGAGGATCCCC 0.627000 7 663 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 19 89 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28389261 28389261 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:28389261G>A ENST00000261609.7 - 73 11369 c.11261C>T c.(11260-11262)gCg>gTg p.A3754V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3754 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCGAGGCCGCAAGGCGAGG 0.537000 5 483 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152806983 152806983 + Silent SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:152806983G>T ENST00000370186.1 + 3 701 c.375G>T c.(373-375)tcG>tcT p.S125S ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 125 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGCCTCTCGTTCTATGCGC 0.622000 48 111 2.81731e-22 3.1527e-22 1 1 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 8 902 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128625055 128625055 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:128625055G>A ENST00000308982.7 + 12 1322 c.1241G>A c.(1240-1242)cGc>cAc p.R414H ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 414 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CCGTACGAGCGCATACTGCGT 0.632000 7 582 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 8 636 9.31168e-06 9.63984e-06 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10470231 10470231 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:10470231G>A ENST00000382483.3 - 4 1600 c.1377C>T c.(1375-1377)acC>acT p.T459T NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 459 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CGGGGAGGCCGGTGCTGGAGG 0.726000 71 445 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149903 193149903 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:193149903T>C ENST00000367434.4 - 2 1545 c.790A>G c.(790-792)Aat>Gat p.N264D CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 264 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 AGTAACTTATTGATTAAATAT 0.388000 5 227 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36917614 36917614 + Splice_Site SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:36917614C>T ENST00000310758.4 - 19 2470 c.e19+1 ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAGCTACTTACGTTTGTCCTG 0.488000 17 136 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 233 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156038083 156038083 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:156038083G>A ENST00000361084.5 + 3 503 c.262G>A c.(262-264)Gcc>Acc p.A88T RAB25_ENST00000487325.1_3'UTR NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 88 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) TGCAGTGGGGGCCCTCCTGGT 0.557000 96 498 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 5984019 5984019 + Missense_Mutation SNP G G A rs148296936 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:5984019G>A ENST00000574946.1 + 2 431 c.41G>A c.(40-42)cGa>cAa p.R14Q WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron Q658N2 WSCD1_HUMAN WSC domain containing 1 14 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 TTTCTCCGCCGAACACAGTTC 0.672000 4 224 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99521174 99521174 + Missense_Mutation SNP A A T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:99521174A>T ENST00000312891.2 - 2 833 c.834T>A c.(832-834)gaT>gaA p.D278E NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 278 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) caactcaggcatctctgggtc 0.388000 39 264 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401600 140401600 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:140401600G>A ENST00000286349.3 + 2 829 c.638G>A c.(637-639)cGt>cAt p.R213H NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 213 intracellular zinc ion binding p.R213H(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTGCACGGGCGTCTCACCAAG 0.612000 76 566 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33763529 33763529 + Silent SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:33763529T>C ENST00000526785.1 - 10 4753 c.1002A>G c.(1000-1002)gaA>gaG p.E334E FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000265651.3_Silent_p.E447E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR Q9UK99 FBX3_HUMAN F-box protein 3 447 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) CTTCATCATCTTCATCTGATT 0.478000 29 182 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991322 28991322 + Missense_Mutation SNP G G A rs145949758 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:28991322G>A ENST00000359747.4 + 14 2352 c.2323G>A c.(2323-2325)Gca>Aca p.A775T DSG4_ENST00000308128.4_Missense_Mutation_p.A756T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 756 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ctcaggggccgcaAGGAAGAG 0.617000 5 288 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202291 39202291 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:39202291G>A ENST00000351578.6 - 2 962 c.772C>T c.(772-774)Ccc>Tcc p.P258S FYB_ENST00000505428.1_Missense_Mutation_p.P258S|FYB_ENST00000540520.1_Missense_Mutation_p.P268S|FYB_ENST00000515010.1_Missense_Mutation_p.P258S|FYB_ENST00000512982.1_Missense_Mutation_p.P258S NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 258 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CCAGGAAAGGGCAAACTTGAA 0.502000 6 783 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48431870 48431870 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:48431870G>A ENST00000017003.2 + 3 779 c.730G>A c.(730-732)Gcc>Acc p.A244T XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 244 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TCACGGCCGCGCCATCCGCCA 0.612000 5 226 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 389 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79932804 79932804 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:79932804G>A ENST00000373275.4 - 41 4929 c.4713C>T c.(4711-4713)atC>atT p.I1571I BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1571 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GTTTTCTCTTGATTCCTGTCC 0.368000 34 87 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41268935 41268935 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:41268935C>T ENST00000243563.3 + 4 1106 c.556C>T c.(556-558)Ccc>Tcc p.P186S NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 186 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGGGCCATGCCCCCGCAGCA 0.612000 5 254 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186916023 186916023 + Silent SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:186916023C>A ENST00000367466.3 + 12 1346 c.1194C>A c.(1192-1194)tcC>tcA p.S398S PLA2G4A_ENST00000442353.2_Silent_p.S338S NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 398 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GTGCCTTTTCCATATTGTTCA 0.358000 45 367 6.87076e-12 7.47513e-12 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 5 192 0 0 1 0 0 BTN3A1 0 broad.mit.edu 37 6 26413540 26413540 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:26413540G>A ENST00000289361.6 + 10 1530 c.1162G>A c.(1162-1164)Gag>Aag p.E388K BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 388 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TCTCGGCTGTGAGAGCTTCAT 0.512000 69 506 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860732 52860732 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:52860732G>A ENST00000343457.3 - 4 2462 c.2456C>T c.(2455-2457)cCg>cTg p.P819L NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 819 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GAACATGCCCGGAAACTCATC 0.463000 5 254 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 20 255 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239049668 239049668 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:239049668G>A ENST00000409223.1 + 2 380 c.273G>A c.(271-273)gtG>gtA p.V91V KLHL30_ENST00000305959.4_Silent_p.V73V Q0D2K2 KLH30_HUMAN kelch-like family member 30 91 BTB. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TGGACTTCGTGTACACAGGCC 0.672000 6 894 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33763531 33763531 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:33763531C>T ENST00000526785.1 - 10 4751 c.1000G>A c.(1000-1002)Gaa>Aaa p.E334K FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR Q9UK99 FBX3_HUMAN F-box protein 3 447 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) TCATCATCTTCATCTGATTCA 0.483000 28 175 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153411 133153411 + Missense_Mutation SNP C C T rs141821338 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:133153411C>T ENST00000388996.4 - 10 1850 c.1430G>A c.(1429-1431)cGc>cAc p.R477H KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 477 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.R477H(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGCTTTCATGCGGAAGGCCGT 0.473000 60 527 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30455811 30455811 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:30455811G>A ENST00000478753.2 - 1 1691 c.1238C>T c.(1237-1239)aCg>aTg p.T413M SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M Q99611 SPS2_HUMAN selenophosphate synthetase 2 413 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 GATCCGGGCCGTTCGGTTTCC 0.537000 5 356 0 0 1 0 0 GABARAPL3 0 broad.mit.edu 37 15 90892199 90892199 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:90892199G>T ENST00000412799.2 - 1 470 c.231C>A c.(229-231)ttC>ttA p.F77L TGACAAAGAAGAATAAGGCGT 0.483000 11 161 3.27435e-08 3.4976e-08 1 1 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 6 489 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21464862 21464862 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr14:21464862G>A ENST00000339374.6 + 13 1490 c.1257G>A c.(1255-1257)cgG>cgA p.R419R RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 419 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CAGCCCGCCGGCACGGCAGGT 0.582000 6 463 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93595475 93595475 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:93595475C>T ENST00000329082.7 - 3 664 c.393G>A c.(391-393)ccG>ccA p.P131P RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000425933.2_Silent_p.P115P NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 131 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGTCTCCGGCCGGTGGGAGCG 0.647000 45 325 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90422465 90422465 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:90422465C>T ENST00000369393.3 - 48 7374 c.7259G>A c.(7258-7260)cGa>cAa p.R2420Q MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2420 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATGTGCTCGCAAAGAAGA 0.448000 37 271 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134090033 134090033 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:134090033G>A ENST00000514516.1 - 2 595 c.417C>T c.(415-417)ggC>ggT p.G139G AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 81 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGTTCTCACCGCCCTGGTGCT 0.677000 4 257 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47683068 47683068 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:47683068G>A ENST00000455779.1 + 19 1914 c.1729G>A c.(1729-1731)Gat>Aat p.D577N PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N Q93100 KPBB_HUMAN phosphorylase kinase, beta 584 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CGACCTAAGTGATTTCTACAT 0.343000 53 338 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316422 40316422 + Missense_Mutation SNP T T G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:40316422T>G ENST00000593685.1 - 11 2291 c.1823A>C c.(1822-1824)gAc>gCc p.D608A DYRK1B_ENST00000323039.5_Missense_Mutation_p.D608A|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D580A|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D580A|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D568A Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 608 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AGTGGCAGGGTCATCAGGAGG 0.716000 7 36 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 52 0.000602214 0.000615306 1 1 0 KIAA0922 23240 broad.mit.edu 37 4 154542991 154542991 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:154542991G>T ENST00000409959.3 + 28 3898 c.3849G>T c.(3847-3849)caG>caT p.Q1283H KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409663.3_Missense_Mutation_p.Q1282H NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1282 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CTGCTGCCCAGAGAGAGGCAG 0.423000 21 154 2.89027e-11 3.11566e-11 1 1 0 GPANK1 7918 broad.mit.edu 37 6 31631878 31631878 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:31631878C>T ENST00000375906.1 - 3 1062 c.378G>A c.(376-378)ccG>ccA p.P126P GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375895.2_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 126 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 CTGCCTCATGCGGTTCCAGCA 0.617000 5 516 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 15 213 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6021941 6021941 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:6021941G>A ENST00000378858.4 - 5 2174 c.1950C>T c.(1948-1950)tgC>tgT p.C650C NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 650 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCGCCAGCACGCACACGCGGT 0.721000 4 184 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 5 250 1.15088e-07 1.22378e-07 1 1 0 IL17RE 132014 broad.mit.edu 37 3 9956176 9956176 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:9956176C>T ENST00000454190.2 + 14 1399 c.1314C>T c.(1312-1314)agC>agT p.S438S IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000421412.1_Intron NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 0 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) CTTCACTCAGCTCCCCGGGAG 0.612000 151 411 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64026576 64026576 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:64026576G>A ENST00000540288.1 + 13 1488 c.1385G>A c.(1384-1386)cGt>cAt p.R462H PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 462 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CTGATGGGCCGTATCCTGGTG 0.706000 4 133 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 8 392 5.50884e-06 5.72822e-06 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432633 117432633 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:117432633G>A ENST00000160373.3 - 4 708 c.617C>T c.(616-618)aCg>aTg p.T206M NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 206 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TAATTCATTCGTCTTTTTCTT 0.463000 51 278 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118539321 118539321 + Missense_Mutation SNP A A T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:118539321A>T ENST00000336338.5 - 33 4887 c.4822T>A c.(4822-4824)Ttg>Atg p.L1608M NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1608 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCATCTTCCAATTTTTTTTCA 0.353000 5 228 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74758082 74758082 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:74758082G>A ENST00000258080.3 + 3 1386 c.756G>A c.(754-756)cgG>cgA p.R252R HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 252 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 CTGATGTCCGGCAAGGGGAGT 0.552000 7 1223 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111493921 111493921 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:111493921G>T ENST00000368851.5 + 2 542 c.367G>T c.(367-369)Ggg>Tgg p.G123W SLC16A10_ENST00000465319.1_3'UTR NM_018593.4 NP_061063.2 Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 123 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TCTCTCCATGGGGATGATTTT 0.428000 22 360 2.70639e-06 2.82668e-06 1 1 0 DUPD1 338599 broad.mit.edu 37 10 76797813 76797813 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:76797813G>A ENST00000338487.5 - 3 443 c.444C>T c.(442-444)gtC>gtT p.V148V NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 148 Substrate binding (Probable).|Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TGCGGCCCATGACGCAGTGAA 0.617000 41 285 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67695975 67695975 + Nonsense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:67695975C>T ENST00000458121.2 + 3 554 c.463C>T c.(463-465)Cga>Tga p.R155* PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126* NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 156 Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGAGACCCACCGACGGGTGCG 0.647000 62 416 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 28 123 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56186849 56186849 + Missense_Mutation SNP T T G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:56186849T>G ENST00000340462.4 - 5 1019 c.739A>C c.(739-741)Aat>Cat p.N247H ZBP1_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 270 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CTCATCTCATTGCTGTGTCCC 0.632000 16 112 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 8 817 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 6 785 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 4 313 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316773 39316773 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:39316773C>T ENST00000390661.3 - 1 210 c.171G>A c.(169-171)agG>agA p.R57R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 57 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) AGCAGGTGGTCCTGCAGCAGG 0.662000 7 498 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297671 62297671 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:62297671C>T ENST00000378024.4 - 5 4492 c.4218G>A c.(4216-4218)ctG>ctA p.L1406L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1406 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGCTTTGGGCAGCTTCACAT 0.493000 7 1205 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 9 939 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662850 40662850 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:40662850C>T ENST00000454349.2 + 5 2827 c.2616C>T c.(2614-2616)ccC>ccT p.P872P TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 872 Pro-rich. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ATGAGGAACCCAGTGGTTGGG 0.552000 27 135 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 269 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59599213 59599213 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:59599213G>A ENST00000541311.1 - 8 1289 c.1055C>T c.(1054-1056)gCg>gTg p.A352V GIF_ENST00000257248.2_Missense_Mutation_p.A377V P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 377 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding p.A377V(1) large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 AACATTTTCCGCGATATTGTT 0.368000 39 325 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46229016 46229016 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr21:46229016C>T ENST00000332859.6 - 3 328 c.168G>A c.(166-168)caG>caA p.Q56Q SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.Q94Q NM_006936.2 NP_008867.2 P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 56 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) TGAATCTGATCTGCCTCATTG 0.532000 31 215 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077492 57077492 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:57077492G>A ENST00000532437.1 - 5 3004 c.2693C>T c.(2692-2694)gCc>gTc p.A898V TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 898 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.A898V(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ATCTTGGCTGGCATAAGCACC 0.532000 6 940 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754946 54754946 + Silent SNP G G A rs146755009 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:54754946G>A ENST00000450632.1 - 13 1766 c.1689C>T c.(1687-1689)ccC>ccT p.P563P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 570 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGTGGGGAGGGAGGAGAGG 0.577000 5 182 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32735087 32735087 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:32735087G>A ENST00000427716.2 + 4 710 c.286G>A c.(286-288)Gca>Aca p.A96T FGD4_ENST00000472289.1_Missense_Mutation_p.A96T|FGD4_ENST00000525053.1_Missense_Mutation_p.A208T|FGD4_ENST00000534526.2_Missense_Mutation_p.A233T|FGD4_ENST00000546442.1_Missense_Mutation_p.A3T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Missense_Mutation_p.A181T NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 96 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TGTAATGGCAGCACAAAACCA 0.473000 5 390 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 7 527 0.000673444 0.000685105 1 1 0 LAMA5 3911 broad.mit.edu 37 20 60921843 60921843 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:60921843G>A ENST00000252999.3 - 8 1152 c.1086C>T c.(1084-1086)taC>taT p.Y362Y LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 362 Laminin EGF-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCATGGCCGTAGCAGTTAC 0.667000 4 142 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33659689 33659689 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:33659689G>A ENST00000374316.5 + 55 8502 c.7442G>A c.(7441-7443)cGc>cAc p.R2481H ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2481 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GACATTCTCCGCAAGCCCTCC 0.592000 7 856 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 71873147 71873147 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:71873147C>T ENST00000357731.4 - 7 1286 c.1047G>A c.(1045-1047)aaG>aaA p.K349K NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 349 cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GAATGGCATTCTTCAGGTAGA 0.428000 29 176 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38910225 38910225 + Missense_Mutation SNP C C A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:38910225C>A ENST00000312150.4 - 3 616 c.556G>T c.(556-558)Gtc>Ttc p.V186F NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 186 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) AACCCATTGACATCAGCCTCT 0.408000 6 439 0.217242 0.217242 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 6 1054 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159998 72159998 + Nonsense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:72159998G>A ENST00000537465.1 - 15 2295 c.2137C>T c.(2137-2139)Cag>Tag p.Q713* PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708* Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 713 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGCTGGGCCTGCAGGCTCATT 0.527000 9 896 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47163392 47163392 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:47163392T>C ENST00000295454.3 + 4 659 c.367T>C c.(367-369)Ttt>Ctt p.F123L GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 123 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGACACCTACTTTCTGAATGA 0.443000 71 500 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241468562 241468562 + Missense_Mutation SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:241468562C>T ENST00000391987.1 - 5 944 c.578G>A c.(577-579)cGc>cAc p.R193H ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R193H|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R282H Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 193 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GAGGAAGATGCGGGCGTCCAG 0.478000 5 538 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:25380275T>G ENST00000311936.3 - 3 374 c.183A>C c.(181-183)caA>caC p.Q61H KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(153) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 35 234 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:38791143G>A ENST00000310803.5 - 15 1902 c.1725C>T c.(1723-1725)tgC>tgT p.C575C RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Silent_p.C527C NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 575 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468000 8 994 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 5 532 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142050 133142050 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:133142050G>A ENST00000388996.4 - 15 2498 c.2078C>T c.(2077-2079)cCg>cTg p.P693L KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 693 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E694fs*12(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTGGTTCCGGGGGGCCTGT 0.547000 42 518 0 0 1 0 0 CTD-2374C24.1 0 broad.mit.edu 37 5 104435497 104435497 + RNA SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:104435497C>T ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TCTTATATTTCGCTGATGTGA 0.413000 14 97 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G G A rs143796899 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:111630550G>A ENST00000502935.1 - 18 1754 c.1635C>T c.(1633-1635)tgC>tgT p.C545C XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369680.4_Silent_p.C502C Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2)|p.C545C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498000 5 521 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 8 961 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 7 96 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55012332 55012332 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:55012332G>T ENST00000371336.3 + 2 350 c.149G>T c.(148-150)gGt>gTt p.G50V CASS4_ENST00000360314.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 50 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GAAAGCGAGGGTTGGTGGAAG 0.602000 44 408 4.44401e-20 4.94949e-20 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 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 9 276 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157488191 157488191 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:157488191G>A ENST00000346085.5 + 10 2898 c.2897G>A c.(2896-2898)gGc>gAc p.G966D ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 953 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGTTTCCCCGGCATGAACCAG 0.537000 9 919 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48315041 48315041 + Silent SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:48315041G>A ENST00000435803.1 + 17 5802 c.5778G>A c.(5776-5778)ccG>ccA p.P1926P NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1926 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGATATTACCGTTTGTCCCAC 0.373000 98 521 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 5 371 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75041057 75041057 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:75041057G>A ENST00000395759.2 + 3 415 c.388G>A c.(388-390)Gta>Ata p.V130I MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 72 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) ACTTTTGGACGTAACTGATCA 0.368000 5 303 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 868 0 0 1 0 0 DAZAP2 9802 broad.mit.edu 37 12 51636190 51636190 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:51636190G>A ENST00000412716.3 + 4 1071 c.455G>A c.(454-456)cGg>cAg p.R152Q DAZAP2_ENST00000551313.1_Missense_Mutation_p.R92Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549555.1_Silent_p.A126A|DAZAP2_ENST00000449723.3_Missense_Mutation_p.R130Q|DAZAP2_ENST00000439799.2_Missense_Mutation_p.R70Q|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Missense_Mutation_p.R120Q Q15038 DAZP2_HUMAN DAZ associated protein 2 152 WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 GTAACTCAGCGGAAGGGGAAC 0.542000 7 872 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18138848 18138848 + Missense_Mutation SNP C C T rs141275484 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:18138848C>T ENST00000316843.4 + 11 1445 c.1349C>T c.(1348-1350)aCg>aTg p.T450M NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 450 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) CTGCTGCTGACGGGGTAGGTG 0.652000 4 245 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098910 11098910 + RNA SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr21:11098910G>A ENST00000470054.1 - 0 15 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) gcagctcagcgggagatacca 0.587000 5 53 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753771 48753771 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:48753771G>A ENST00000285238.8 + 23 3280 c.3200G>A c.(3199-3201)cGc>cAc p.R1067H NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1067 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCATCAGGCCGCATCCTGAAC 0.557000 7 1001 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 6 925 0 0 1 0 0 AP000889.3 0 broad.mit.edu 37 11 107462660 107462660 + Missense_Mutation SNP G G C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:107462660G>C ENST00000600612.1 + 1 190 c.177G>C c.(175-177)ttG>ttC p.L59F ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron CTGGGCTGTTGAGCTGCGCCT 0.657000 10 51 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 415 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37420484 37420484 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:37420484G>A ENST00000264658.6 - 14 1407 c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 383 cytoplasm p.R383W(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) AGTTCTATCCGCTCAAGGCTA 0.512000 7 608 0 0 1 0 0 BCS1L 617 broad.mit.edu 37 2 219525979 219525979 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:219525979G>A ENST00000431802.1 + 2 968 c.269G>A c.(268-270)cGc>cAc p.R90H BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 90 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGAGTGGCCGCATTTCCACT 0.527000 6 727 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 232 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468264 44468264 + Missense_Mutation SNP G G A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:44468264G>A ENST00000372310.3 - 7 943 c.778C>T c.(778-780)Cgc>Tgc p.R260C SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 333 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GTCACTCCGCGGACAAACAGA 0.602000 5 526 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374225 33374225 + Missense_Mutation SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:33374225T>C ENST00000428849.2 + 8 2239 c.1789T>C c.(1789-1791)Tcc>Ccc p.S597P NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 597 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAGCAGCCTGTCCACGCTGGG 0.637000 43 306 0 0 1 0 0 RP11-206L10.8 0 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 8 43 --- --- --- --- IPO13 9670 broad.mit.edu 37 1 44425920 44425922 + Splice_Site DEL GGT GGT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:44425920_44425922delGGT ENST00000372343.3 + 12 2690_2692 c.2028_splice c.e12-1 p.P676_splice NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 676 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGTGCCTTCAGGTGGTGGTGGTG 0.562 7 1436 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 17 326 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 9 391 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 9 85 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276386 186276388 + In_Frame_Del DEL AGG AGG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:186276386_186276388delAGG ENST00000445192.2 + 7 1580_1582 c.1535_1537delAGG c.(1534-1539)aag>a p.KE512del PRG4_ENST00000367486.3_In_Frame_Del_p.KE469del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE471del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE419del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 512 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTTCACC 0.640 7 839 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 7 545 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 7 421 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 7 508 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109380485 109380487 + In_Frame_Del DEL GAT GAT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:109380485_109380487delGAT ENST00000283195.6 + 20 3616_3618 c.3490_3492delGAT c.(3490-3492)del p.D1168del NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCATGGGGATGATGATGATG 0.424 7 560 --- --- --- --- FOXD4L1 200350 broad.mit.edu 37 2 114257705 114257705 + Frame_Shift_Del DEL C C - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:114257705delC ENST00000306507.5 + 1 1045 c.872delC c.(871-873)acfs p.T291fs NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 291 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 GACCTGGCGACCCCCGGCACC 0.677 9 883 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 34 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178977303 178977304 + Frame_Shift_Ins INS - - G rs146365140 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:178977303_178977304insG ENST00000286070.5 + 1 122_123 c.30_31insG c.(28-33)ggggggfs p.GG10fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 10 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CTGCGAGCGGCGGGGGCTTCCG 0.644 OREG0015102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 364 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 8 1733 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 13 327 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 12 759 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 7 12 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38750970 38750970 + Splice_Site DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:38750970delT ENST00000449082.2 - 24 4279 c.4281_splice c.e24+1 p.K1427_splice NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1427 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACCACTTATCTTTTTTTTCTG 0.408 7 432 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 7 1019 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 13 271 --- --- --- --- TBC1D23 55773 broad.mit.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:100039736delA ENST00000394144.4 + 18 1946 c.1939delA c.(1939-1941)aafs p.K649fs TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.K634fs|TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.K512fs NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 649 intracellular Rab GTPase activator activity p.?(2)|p.H650fs*3(1)|p.H635fs*3(1) breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AATTACATCCAAAAAAAAACA 0.353 10 285 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 9 322 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 11 549 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 7 292 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 11 476 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 7 568 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 11 355 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 7 262 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 8 288 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 11 203 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 7 666 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000359359.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 7 371 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 11 243 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 10 726 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 12 384 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 326 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 11 651 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 7 1808 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100285170 100285170 + Frame_Shift_Del DEL G G - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:100285170delG ENST00000275732.5 - 4 1540 c.331delC c.(331-333)tgfs p.L111fs GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 111 p.L111fs*234(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTGCCAGCCAGGGGGGGGCCA 0.672 7 256 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 7 32 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133160181 133160181 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:133160181delT ENST00000253861.4 + 8 1311 c.1282delT c.(1282-1284)ttfs p.F429fs EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 429 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTTTGCAGCCTTTTTTGCCAA 0.378 9 698 --- --- --- --- TRBV7-1 0 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 8 53 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:6378798delT ENST00000325203.5 - 4 1174 c.700delA c.(700-702)tafs p.I234fs ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.I182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.I234fs|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.I234fs|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GCAGTCACTATTTTTTTTTCT 0.368 7 323 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 349 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 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) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 10 1670 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 921 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 959 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125080031 125080031 + Frame_Shift_Del DEL A A - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:125080031delA ENST00000522917.1 + 28 3908 c.3702delA c.(3700-3702)ggfs p.G1234fs FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1234fs NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1234 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCCCAAGGGAAAAAAAGGCA 0.388 9 268 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142517131 142517131 + RNA DEL G G - rs66486012 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr8:142517131delG ENST00000430863.1 - 0 161 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GAGTACCGGTGGGGGGGGGTC 0.667 9 189 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 11 149 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C C - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:39149853delC ENST00000297668.6 - 10 1672 c.1599delG c.(1597-1599)gcfs p.A533fs CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 533 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 10 80 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 253 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 8 78 --- --- --- --- LINC00840 0 broad.mit.edu 37 10 44362841 44362842 + RNA INS - - GGGCAG rs11283414 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:44362841_44362842insGGGCAG ENST00000431737.1 + 0 1182 NR_038268.1 ggcgggggcaagggcaggggca 0.569 5 8 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 11 504 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 9 843 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 7 1147 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62292121 62292121 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:62292121delT ENST00000378024.4 - 5 10042 c.9768delA c.(9766-9768)aafs p.K3256fs AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3256 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTTTGGGCCTTTTATGTCAA 0.403 7 491 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 15 22 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G rs139987150 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr11:118770651_118770652insG ENST00000334801.3 - 7 4344_4345 c.3380_3381insC c.(3379-3381)cccfs p.P1127fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 7 235 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 11 369 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 10 537 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 10 872 --- --- --- --- G2E3 55632 broad.mit.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr14:31074771_31074772insA ENST00000206595.6 + 11 1225_1226 c.1071_1072insA c.(1069-1074)ataaaafs p.IK357fs G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 357 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATTCCAAATTAAAAAAAAAAC 0.272 7 132 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 202 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818795 105818797 + In_Frame_Del DEL CTC CTC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr14:105818795_105818797delCTC ENST00000447393.1 + 3 463_465 c.288_290delCTC c.(286-291)ttc>tt p.FS96del PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_In_Frame_Del_p.FS96del|PACS2_ENST00000430725.2_In_Frame_Del_p.FS29del|PACS2_ENST00000325438.8_In_Frame_Del_p.FS96del NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 96 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CCCTGACCTTCTCCTTGCAGGTG 0.616 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 375 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 15 118 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85400266 85400267 + Frame_Shift_Ins INS - - A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr15:85400266_85400267insA ENST00000258888.5 + 6 3070_3071 c.2903_2904insA c.(2902-2904)caafs p.Q968fs NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 968 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTTGTTTCCCAAAAAAACCTG 0.540 8 763 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 9 947 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:18937310_18937312delGCC ENST00000446231.2 - 1 464_466 c.52_54delGGC c.(52-54)del p.G18del SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_In_Frame_Del_p.G18del Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 18 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GATACTTGGTgccgccgccgccg 0.749 7 70 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 7 373 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 8 332 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 10 337 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 760 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 220 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G G - rs11575998 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:7579585delG ENST00000420246.2 - 4 234 c.102delC c.(100-102)ccfs p.P34fs TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 34 Interaction with HRMT1L2.|Transcription activation (acidic). P -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGACGGCAAGGGGGACTGTA 0.597 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 144 826 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 11 1305 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 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) tggtggtgcggctgctgctgctg 0.591 7 461 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:45219355delC ENST00000066544.3 - 12 1508 c.1415delG c.(1414-1416)gtfs p.G472fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368 9 617 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49157025 49157025 + Frame_Shift_Del DEL T T - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:49157025delT ENST00000262013.7 - 2 552 c.344delA c.(343-345)agfs p.K115fs SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 115 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTGTAAGTCCTTTTTTTCCTG 0.313 9 479 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 10 98 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 7 870 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 7 769 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 11 116 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 8 374 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755180 6755180 + Frame_Shift_Del DEL G G - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:6755180delG ENST00000245908.6 - 5 912 c.643delC c.(643-645)ggfs p.R215fs SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Del_p.R93fs NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 215 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GAGGGTGTCCGGGGGGGCTTC 0.657 7 1339 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 10 284 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 8 281 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 795 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 17 582 --- --- --- --- ZNF470 388566 broad.mit.edu 37 19 57089013 57089014 + In_Frame_Ins INS - - TAA TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:57089013_57089014insTAA ENST00000330619.8 + 6 1902_1903 c.1216_1217insTAA c.(1216-1218)cac>TAAcac p.405_406ins* ZNF470_ENST00000391709.3_In_Frame_Ins_p.405_406ins*|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGGGAAGGCTTTCACTGATCAC 0.426 30 390 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57328919 57328919 + Frame_Shift_Del DEL T T - rs143368073 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr19:57328919delT ENST00000326441.9 - 10 1254 c.891delA c.(889-891)aafs p.K297fs ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.K173fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.K171fs|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.K297fs NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 297 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTGGGTTGATTTTTTGGCTT 0.468 7 507 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 17 514 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 12 212 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 661 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 8 573 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 9 471 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 7 258 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 15 39 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64face78-864d-4f47-9be1-d9c2d6ad6fe1 533e52da-782c-4274-afbe-e017bb6b0286 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 8 299 --- --- --- ---