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 CHD8 57680 broad.mit.edu 37 14 21864052 21864052 + Splice_Site SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:21864052C>T ENST00000399982.2 - 27 5116 c.e27-1 CHD8_ENST00000555962.1_Splice_Site|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000557364.1_Splice_Site NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AAAGTCAACCCTAAAATTATG 0.383000 20 161 0 0 0.069288 0 0 ST18 9705 broad.mit.edu 37 8 53055541 53055541 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:53055541G>C ENST00000276480.7 - 17 2800 c.2117C>G c.(2116-2118)cCa>cGa p.P706R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 706 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTAGGGCTTGGTATAGAGGC 0.408000 18 127 0 0 0.049695 0 0 SIAH2 6478 broad.mit.edu 37 3 150459978 150459978 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:150459978C>T ENST00000312960.3 - 2 1452 c.925G>A c.(925-927)Gat>Aat p.D309N NM_005067.5 NP_005058.3 O43255 SIAH2_HUMAN siah E3 ubiquitin protein ligase 2 309 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTCCCATTATCTGCAAAAAGA 0.453000 13 73 0 0 0.132662 0 0 PHEX 5251 broad.mit.edu 37 X 22117197 22117197 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:22117197C>T ENST00000379374.4 + 9 1572 c.1007C>T c.(1006-1008)tCc>tTc p.S336F PHEX_ENST00000537599.1_Missense_Mutation_p.S336F|PHEX_ENST00000418858.3_Missense_Mutation_p.S39F|PHEX_ENST00000535894.1_Missense_Mutation_p.S239F|PHEX_ENST00000475778.1_3'UTR NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 336 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 ATCAGCCCCTCCGAGAATGTG 0.453000 27 124 0 0 0.050027 0 0 OR52E8 390079 broad.mit.edu 37 11 5878153 5878153 + Silent SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:5878153T>A ENST00000537935.1 - 1 811 c.780A>T c.(778-780)gcA>gcT p.A260A TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGAAAAAAATGCTGGTGTAA 0.428000 12 87 0 0 0.105934 0 0 RYR3 6263 broad.mit.edu 37 15 33955863 33955863 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:33955863C>A ENST00000389232.4 + 36 5614 c.5544C>A c.(5542-5544)ctC>ctA p.L1848L RYR3_ENST00000415757.3_Silent_p.L1848L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1848 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACAATGAGCTCATGCAGGCCC 0.577000 6 22 0.00116845 0.00136478 0.021553 1 0 TENM4 26011 broad.mit.edu 37 11 78433851 78433851 + Missense_Mutation SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:78433851T>G ENST00000278550.7 - 24 4124 c.3662A>C c.(3661-3663)aAc>aCc p.N1221T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGCAAGGCCGTTGCAGCTGGG 0.577000 6 46 0 0 0.029380 0 0 ASPM 259266 broad.mit.edu 37 1 197065250 197065250 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:197065250C>T ENST00000367409.4 - 19 9121 c.8865G>A c.(8863-8865)gtG>gtA p.V2955V ASPM_ENST00000367408.1_Silent_p.V620V|ASPM_ENST00000294732.7_Silent_p.V1370V NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2955 IQ 34.|IQ 35. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AGGCAGCTTTCACTTTACATA 0.318000 4 152 0 0 0.014758 0 0 TTLL5 23093 broad.mit.edu 37 14 76330023 76330023 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:76330023G>T ENST00000298832.9 + 29 3545 c.3340G>T c.(3340-3342)Ggg>Tgg p.G1114W TTLL5_ENST00000557636.1_Missense_Mutation_p.G1129W|TTLL5_ENST00000556893.1_Missense_Mutation_p.G665W|TTLL5_ENST00000554510.1_Missense_Mutation_p.G623W NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1114 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CCTGCAGACAGGGGGATTTGC 0.493000 15 108 1.5739e-10 2.31217e-10 0.146539 1 0 CACNA1E 777 broad.mit.edu 37 1 181752829 181752829 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:181752829G>A ENST00000526775.1 + 39 5487 c.5322G>A c.(5320-5322)atG>atA p.M1774I CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1744I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.M1400I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1774I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M1793I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1793I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1725I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1793 EF-hand. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGTCCTGATGAACATGCCAG 0.428000 6 147 0 0 0.029380 0 0 FHOD1 29109 broad.mit.edu 37 16 67266053 67266053 + Silent SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:67266053G>C ENST00000258201.4 - 14 2338 c.2091C>G c.(2089-2091)ccC>ccG p.P697P FHOD1_ENST00000567687.1_Silent_p.P276P NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 697 FH2.|Interaction with ROCK1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGCTGCGCTTGGGGTCCAGCA 0.582000 4 36 0 0 0.014758 0 0 MSI1 4440 broad.mit.edu 37 12 120800882 120800882 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:120800882C>A ENST00000257552.2 - 6 454 c.366G>T c.(364-366)gtG>gtT p.V122V NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 122 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCACGTCCTCCACCGTGGTGT 0.542000 11 78 6.40141e-05 8.14465e-05 0.080935 1 0 COL4A5 1287 broad.mit.edu 37 X 107911647 107911647 + Missense_Mutation SNP G G T rs104886391 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:107911647G>T ENST00000328300.6 + 41 3947 c.3703G>T c.(3703-3705)Ggt>Tgt p.G1235C COL4A5_ENST00000361603.2_Missense_Mutation_p.G1235C NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1235 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGTGTGCAGGGTCCCCCAGG 0.607000 Alport syndrome with Diffuse Leiomyomatosis 3 31 1.024e-07 1.43764e-07 0.014758 1 0 SCN4A 6329 broad.mit.edu 37 17 62049174 62049174 + Silent SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:62049174G>C ENST00000435607.1 - 4 595 c.519C>G c.(517-519)ctC>ctG p.L173L SCN4A_ENST00000578147.1_Silent_p.L173L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 173 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GTATCTTGATGAGGGACTCAA 0.597000 3 26 0 0 0.115264 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8902 8902 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrM:8902G>A ENST00000361899.2 + 1 376 c.376G>A c.(376-378)Gcc>Acc p.A126T mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 AAAATGCCCTAGCCCACTTCT 0.473000 19 451 0 0 0.062417 0 0 PCLO 27445 broad.mit.edu 37 7 82582321 82582321 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:82582321C>A ENST00000423517.2 - 5 8285 c.7948G>T c.(7948-7950)Gct>Tct p.A2650S PCLO_ENST00000333891.8_Missense_Mutation_p.A2650S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2581 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACAGGGGTAGCAGAAAATGTC 0.443000 13 65 1.61879e-10 2.36593e-10 0.093190 1 0 RBFOX2 23543 broad.mit.edu 37 22 36141976 36141976 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:36141976G>A ENST00000405409.2 - 11 1411 c.1043C>T c.(1042-1044)gCg>gTg p.A348V RBFOX2_ENST00000416721.2_Silent_p.G360G|RBFOX2_ENST00000262829.7_Silent_p.G342G|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A351V|RBFOX2_ENST00000397303.2_Silent_p.G341G|RBFOX2_ENST00000449924.2_Silent_p.G364G|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A351V|RBFOX2_ENST00000438146.2_Silent_p.G435G NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 0 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 TTACCACAGCGCCAACTCCAT 0.443000 5 307 0 0 0.014758 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501344 76501344 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:76501344G>T ENST00000307431.8 + 11 1961 c.1576G>T c.(1576-1578)Gat>Tat p.D526Y CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D530Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D478Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D454Y NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 527 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAAAGTGGTAGATCTGATTTC 0.448000 8 37 1.06961e-07 1.48702e-07 0.038147 1 0 GLRA4 441509 broad.mit.edu 37 X 102962325 102962325 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:102962325G>A ENST00000372617.4 - 9 1621 c.1201C>T c.(1201-1203)Cca>Tca p.P401S NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 401 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AGAGGGGCTGGAGGTTGGGGA 0.522000 5 80 0 0 0.014758 0 0 ACO1 48 broad.mit.edu 37 9 32434696 32434696 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:32434696G>A ENST00000379923.1 + 18 2302 c.2096G>A c.(2095-2097)aGa>aAa p.R699K ACO1_ENST00000541043.1_Missense_Mutation_p.R600K|ACO1_ENST00000309951.5_Missense_Mutation_p.R699K NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 699 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTAACTAACAGAGGGTAAGTA 0.448000 5 89 0 0 0.029380 0 0 C2orf62 375307 broad.mit.edu 37 2 219231792 219231792 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:219231792C>T ENST00000289388.3 + 8 830 c.801C>T c.(799-801)atC>atT p.I267I C2orf62_ENST00000481940.1_3'UTR|AC021016.6_ENST00000441749.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 267 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTGCTGCATCATCACCAAGA 0.582000 6 21 0 0 0.029380 0 0 ZNF708 7562 broad.mit.edu 37 19 21476864 21476864 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:21476864G>C ENST00000356929.3 - 4 1101 c.904C>G c.(904-906)Cat>Gat p.H302D NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H302Y(1) breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TCTCCAGTATGAATTTTCTTG 0.378000 10 82 0 0 0.069234 0 0 ANPEP 290 broad.mit.edu 37 15 90348600 90348600 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:90348600G>A ENST00000300060.6 - 3 1022 c.709C>T c.(709-711)Ctt>Ttt p.L237F NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 237 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGGTGGATAAGCGTGATGTTG 0.637000 11 66 0 0 0.080935 0 0 IGF2R 3482 broad.mit.edu 37 6 160506118 160506118 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:160506118G>T ENST00000356956.1 + 41 6308 c.6160G>T c.(6160-6162)Gtc>Ttc p.V2054F NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2054 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AACTGGTGACGTCCAGGTCCT 0.522000 12 40 0.0931896 0.0972858 0.093190 1 0 LOC349160 349160 broad.mit.edu 37 7 136848963 136848963 + RNA SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:136848963C>G ENST00000439694.1 - 0 164 AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000599888.1_RNA TGAGTCGCACCAACCGACCAC 0.512000 6 43 0 0 0.021553 0 0 NLRC5 84166 broad.mit.edu 37 16 57059671 57059671 + Silent SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:57059671A>G ENST00000436936.1 + 6 1041 c.816A>G c.(814-816)acA>acG p.T272T NLRC5_ENST00000539144.1_Silent_p.T272T|NLRC5_ENST00000262510.6_Silent_p.T272T|NLRC5_ENST00000308149.7_Silent_p.T272T Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 272 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGTTCCTGACACCGTCCGAGC 0.542000 5 118 0 0 0.029380 0 0 GXYLT1 283464 broad.mit.edu 37 12 42499724 42499724 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:42499724C>T ENST00000398675.3 - 5 992 c.760G>A c.(760-762)Gga>Aga p.G254R GXYLT1_ENST00000280876.6_Missense_Mutation_p.G223R NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 254 O-glycan processing integral to membrane UDP-xylosyltransferase activity p.G254I(1)|p.G223I(1) kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 TTATACCATCCTATTCGAGGT 0.368000 7 21 0 0 0.029380 0 0 MYH13 8735 broad.mit.edu 37 17 10222425 10222425 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:10222425G>T ENST00000418404.3 - 26 3583 c.3420C>A c.(3418-3420)cgC>cgA p.R1140R MYH13_ENST00000252172.4_Silent_p.R1140R|MYH13_ENST00000570743.1_Silent_p.R1140R Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1140 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCAGATCTGAGCGCTGCTTCT 0.532000 16 108 1.99824e-07 2.75119e-07 0.033300 1 0 BIRC6 57448 broad.mit.edu 37 2 32673994 32673994 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:32673994C>T ENST00000421745.2 + 22 4750 c.4616C>T c.(4615-4617)tCa>tTa p.S1539L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1539 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GATGTCCTTTCAGGTAGTGAT 0.323000 8 45 0 0 0.047766 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 3 36 0 0 0.009096 0 0 ZNF142 7701 broad.mit.edu 37 2 219503289 219503289 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:219503289G>A ENST00000411696.2 - 9 5616 c.4837C>T c.(4837-4839)Ctc>Ttc p.L1613F ZNF142_ENST00000449707.1_Missense_Mutation_p.L1613F P52746 ZN142_HUMAN zinc finger protein 142 1613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GTGTGGGTGAGGGCATGATGG 0.612000 3 27 0 0 0.115264 0 0 TENM1 10178 broad.mit.edu 37 X 123519887 123519887 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:123519887G>T ENST00000422452.2 - 29 5779 c.5716C>A c.(5716-5718)Cgg>Agg p.R1906R TENM1_ENST00000371130.3_Silent_p.R1899R|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATGTAACGCCGCTGGCTGTGT 0.453000 11 66 9.05144e-12 1.34357e-11 0.105934 1 0 RYR2 6262 broad.mit.edu 37 1 237608767 237608767 + Missense_Mutation SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:237608767T>G ENST00000366574.2 + 14 1554 c.1237T>G c.(1237-1239)Tca>Gca p.S413A RYR2_ENST00000360064.6_Missense_Mutation_p.S411A|RYR2_ENST00000542537.1_Missense_Mutation_p.S397A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 413 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCATGAAGAATCACGCACAGC 0.403000 12 92 0 0 0.105934 0 0 EPN2 22905 broad.mit.edu 37 17 19186825 19186825 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:19186825G>T ENST00000314728.5 + 3 877 c.393G>T c.(391-393)gtG>gtT p.V131V EPN2_ENST00000571254.1_Silent_p.V131V|EPN2_ENST00000395626.1_Silent_p.V131V|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395620.2_Silent_p.V131V|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Silent_p.V131V NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 131 ENTH. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AGCAACTGGTGGCTCTCCTCA 0.562000 18 86 0.000295444 0.000356786 0.069288 1 0 MAGI2 9863 broad.mit.edu 37 7 77649105 77649105 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:77649105C>T ENST00000354212.4 - 22 4148 c.3895G>A c.(3895-3897)Gag>Aag p.E1299K MAGI2_ENST00000419488.1_Missense_Mutation_p.E1285K|MAGI2_ENST00000522391.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1299 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GCTGAAAGCTCCTTTGGTTTC 0.652000 4 17 0 0 0.014758 0 0 TG 7038 broad.mit.edu 37 8 133898735 133898735 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:133898735C>A ENST00000220616.4 + 9 1158 c.1118C>A c.(1117-1119)tCc>tAc p.S373Y TG_ENST00000377869.1_Missense_Mutation_p.S373Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 373 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGGCCTTGTCCAGACTCTAC 0.502000 35 230 2.51541e-25 3.91744e-25 0.074837 1 0 ZNF100 163227 broad.mit.edu 37 19 21909994 21909994 + Missense_Mutation SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:21909994T>G ENST00000358296.6 - 5 1318 c.1120A>C c.(1120-1122)Aaa>Caa p.K374Q ZNF100_ENST00000305570.6_Missense_Mutation_p.K310Q NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TCTTCACATTTGTAAGGTTTC 0.388000 6 59 0 0 0.021553 0 0 ZNF638 27332 broad.mit.edu 37 2 71576193 71576193 + Missense_Mutation SNP A A G rs139959335 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:71576193A>G ENST00000409544.1 + 2 739 c.109A>G c.(109-111)Atg>Gtg p.M37V ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.M37V|ZNF638_ENST00000355812.3_Missense_Mutation_p.M37V|ZNF638_ENST00000377802.2_Missense_Mutation_p.M37V NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 37 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GCCTGGATCTATGGGTCTCCC 0.507000 25 182 0 0 0.091800 0 0 OR4C12 283093 broad.mit.edu 37 11 50003113 50003113 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:50003113C>A ENST00000335238.4 - 1 958 c.925G>T c.(925-927)Gat>Tat p.D309Y NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D309Y(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 CTTATTTAATCATTATCTGAA 0.378000 4 16 5.9392e-07 8.06034e-07 0.021553 1 0 ACRBP 84519 broad.mit.edu 37 12 6754460 6754460 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:6754460G>A ENST00000229243.2 - 4 494 c.401C>T c.(400-402)aCt>aTt p.T134I ACRBP_ENST00000414226.2_Missense_Mutation_p.T134I|ACRBP_ENST00000536350.1_Missense_Mutation_p.T134I NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 134 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 CTCCTTGAGAGTGTTAGGTGA 0.532000 5 27 0 0 0.029380 0 0 TTC7B 145567 broad.mit.edu 37 14 91155922 91155922 + Nonsense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:91155922G>T ENST00000357056.2 - 7 1033 c.912C>A c.(910-912)taC>taA p.Y304* TTC7B_ENST00000328459.6_Nonsense_Mutation_p.Y304* Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 304 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GAGTGAGAGTGTAGGTTTTTG 0.507000 4 42 0.00909568 0.00989416 0.009096 1 0 SCN5A 6331 broad.mit.edu 37 3 38639328 38639328 + Silent SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:38639328A>G ENST00000413689.1 - 14 2347 c.2154T>C c.(2152-2154)ttT>ttC p.F718F SCN5A_ENST00000455624.2_Silent_p.F718F|SCN5A_ENST00000450102.2_Silent_p.F718F|SCN5A_ENST00000449557.2_Silent_p.F718F|SCN5A_ENST00000333535.4_Silent_p.F718F|SCN5A_ENST00000451551.2_Silent_p.F718F|SCN5A_ENST00000425664.1_Silent_p.F718F|SCN5A_ENST00000443581.1_Silent_p.F718F|SCN5A_ENST00000423572.2_Silent_p.F718F|SCN5A_ENST00000414099.2_Silent_p.F718F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 718 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGAGGTCAGTAAACGGGTCCA 0.547000 7 59 0 0 0.058154 0 0 ATP10B 23120 broad.mit.edu 37 5 160097613 160097613 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:160097613T>C ENST00000327245.5 - 7 1378 c.532A>G c.(532-534)Atg>Gtg p.M178V NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 178 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGCATTTCATTTGGATGAAG 0.488000 20 87 0 0 0.055883 0 0 SPANXN4 441525 broad.mit.edu 37 X 142113848 142113848 + Silent SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:142113848C>G ENST00000370504.3 + 1 131 c.48C>G c.(46-48)ccC>ccG p.P16P SPANXN4_ENST00000446864.1_Silent_p.P16P Q5MJ08 SPXN4_HUMAN SPANX family, member N4 16 endometrium(2)|large_intestine(2)|lung(3)|ovary(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGAGCCCCTGTGAATCTA 0.428000 5 40 0 0 0.029380 0 0 PRDM15 63977 broad.mit.edu 37 21 43248628 43248628 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:43248628G>A ENST00000422911.1 - 13 1700 c.1599C>T c.(1597-1599)tcC>tcT p.S533S PRDM15_ENST00000538201.1_Silent_p.S496S|PRDM15_ENST00000398548.1_Silent_p.S513S|PRDM15_ENST00000269844.3_Silent_p.S842S|PRDM15_ENST00000447207.2_Silent_p.S476S P57071 PRD15_HUMAN PR domain containing 15 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TCTTGTGCTTGGAGAGGTTGC 0.507000 6 592 0 0 0.021553 0 0 TMEFF1 8577 broad.mit.edu 37 9 103338824 103338824 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:103338824G>T ENST00000374879.4 + 10 1517 c.1085G>T c.(1084-1086)cGt>cTt p.R362L MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.T325T|TMEFF1_ENST00000334943.6_Missense_Mutation_p.R323L NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) AATAGAGGACGTCGACAGAAG 0.328000 8 104 0.000274275 0.000332632 0.047766 1 0 FSCN1 6624 broad.mit.edu 37 7 5644976 5644976 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:5644976C>A ENST00000382361.3 + 5 1467 c.1353C>A c.(1351-1353)ttC>ttA p.F451L FSCN1_ENST00000340250.6_Missense_Mutation_p.F430L NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 451 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CTGTGGACTTCTTCTTCGAGT 0.617000 3 12 0.00909568 0.00989416 0.009096 1 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044315 90044315 + RNA SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:90044315G>T ENST00000462693.1 + 0 266 GTTTCTAACCGGTTCTCTGGG 0.507000 8 106 0.00621372 0.00691761 0.058154 1 0 MALT1 10892 broad.mit.edu 37 18 56390406 56390406 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:56390406C>T ENST00000348428.3 + 10 1403 c.1145C>T c.(1144-1146)tCa>tTa p.S382L RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S371L NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 382 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity p.S371L(1) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AAAGTGGTTTCACTGTTGGAT 0.393000 T BIRC3 MALT 4 36 0 0 0.009096 0 0 GAPDH 2597 broad.mit.edu 37 12 6646512 6646512 + Missense_Mutation SNP G G T rs77154254 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:6646512G>T ENST00000229239.5 + 7 1147 c.481G>T c.(481-483)Gcc>Tcc p.A161S GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 161 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding p.A161S(1) central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) AGCACCCCTGGCCAAGGTCAT 0.577000 3 19 0.00024832 0.000303739 0.009096 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68244432 68244432 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:68244432G>T ENST00000347230.4 - 25 4956 c.4818C>A c.(4816-4818)gaC>gaA p.D1606E ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1606E NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1606 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ACATGGTGGGGTCAGGGATTC 0.502000 4 92 1.23904e-05 1.63484e-05 0.014758 1 0 SHROOM4 57477 broad.mit.edu 37 X 50378103 50378103 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:50378103T>C ENST00000376020.2 - 4 995 c.970A>G c.(970-972)Agg>Ggg p.R324G SHROOM4_ENST00000460112.3_Missense_Mutation_p.R208G|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R324G NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 324 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CAACAGAACCTATTAGGGTTC 0.557000 3 40 0 0 0.115264 0 0 PIGP 51227 broad.mit.edu 37 21 38437987 38437987 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:38437987C>A ENST00000464265.1 - 4 595 c.372G>T c.(370-372)caG>caT p.Q124H PIGP_ENST00000329667.3_5'UTR|PIGP_ENST00000399103.1_Missense_Mutation_p.Q100H|PIGP_ENST00000360525.3_Missense_Mutation_p.Q100H|PIGP_ENST00000399098.1_Missense_Mutation_p.Q74H|PIGP_ENST00000399102.1_Missense_Mutation_p.Q100H NM_153681.2 NP_710148.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P 124 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) GGTATTTCTTCTGCTGTTGAT 0.373000 9 42 0.00621372 0.00691761 0.058154 1 0 SYS1 90196 broad.mit.edu 37 20 43995536 43995536 + Silent SNP C C T rs142015382 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr20:43995536C>T ENST00000243918.5 + 4 543 c.252C>T c.(250-252)ttC>ttT p.F84F SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000372727.1_Silent_p.F84F|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000414310.1_Silent_p.F63F NM_033542.3 NP_291020.1 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) 84 protein transport Golgi membrane|integral to membrane p.F84F(1) cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TGCTGTACTTCATCCGGCGAG 0.552000 7 90 0 0 0.058154 0 0 SLIT3 6586 broad.mit.edu 37 5 168110989 168110989 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:168110989G>A ENST00000519560.1 - 32 4087 c.3668C>T c.(3667-3669)cCt>cTt p.P1223L SLIT3_ENST00000332966.8_Missense_Mutation_p.P1230L|SLIT3_ENST00000404867.3_Missense_Mutation_p.P1223L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1223 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTGGTTGGAGGGGAACTCAG 0.582000 6 43 0 0 0.021553 0 0 BRF2 55290 broad.mit.edu 37 8 37704409 37704409 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:37704409G>C ENST00000220659.6 - 3 619 c.499C>G c.(499-501)Ctg>Gtg p.L167V BRF2_ENST00000520601.1_Missense_Mutation_p.L167V NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 167 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GCCAAGCACAGAGATGGCACA 0.507000 4 326 0 0 0.014758 0 0 PFAS 5198 broad.mit.edu 37 17 8167643 8167643 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:8167643G>C ENST00000314666.6 + 16 2038 c.1905G>C c.(1903-1905)aaG>aaC p.K635N PFAS_ENST00000545834.1_Missense_Mutation_p.K211N NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 635 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGCTGGGCAAGATGCCTCGGA 0.607000 4 35 0 0 0.014758 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725412 140725412 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:140725412G>T ENST00000253812.6 + 1 1812 c.1812G>T c.(1810-1812)ctG>ctT p.L604L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCTGGCTGTCCTACCGCC 0.701000 4 24 0.00307968 0.00349685 0.038147 1 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033628 26033628 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:26033628C>T ENST00000259791.2 - 1 168 c.169G>A c.(169-171)Gag>Aag p.E57K NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 57 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 GTCAGGTACTCAAGCACCGCC 0.657000 5 33 0 0 0.021553 0 0 OR1E1 8387 broad.mit.edu 37 17 3300975 3300975 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:3300975G>T ENST00000322608.2 - 1 729 c.730C>A c.(730-732)Cac>Aac p.H244N NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H244N(1) endometrium(3)|large_intestine(2)|lung(5) 10 ACAGACAGGTGGGAGCCACAA 0.458000 27 101 2.70662e-09 3.91567e-09 0.144211 1 0 NXF3 56000 broad.mit.edu 37 X 102335100 102335100 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:102335100G>A ENST00000425644.1 - 11 1042 c.44C>T c.(43-45)cCc>cTc p.P15L NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000395065.3_Silent_p.A324A Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 0 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ACCTCTTGTGGGCTTCAGTAC 0.527000 43 235 0 0 0.131918 0 0 FAM47B 170062 broad.mit.edu 37 X 34961740 34961740 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:34961740C>A ENST00000329357.5 + 1 828 c.792C>A c.(790-792)ccC>ccA p.P264P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 264 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CAGAGCCTCCCAAGACTCTGG 0.632000 8 83 3.27435e-08 4.64274e-08 0.119110 1 0 FANCI 55215 broad.mit.edu 37 15 89816700 89816700 + Splice_Site SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:89816700G>T ENST00000310775.7 + 11 1061 c.975_splice c.e11+1 p.Q325_splice FANCI_ENST00000300027.8_Splice_Site_p.Q325_splice NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 325 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCAGGACCAGGTATTTTTTT 0.313000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 45 0.000602214 0.000712162 0.014758 1 0 ZNF100 163227 broad.mit.edu 37 19 21909553 21909553 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:21909553C>T ENST00000358296.6 - 5 1759 c.1561G>A c.(1561-1563)Gac>Aac p.D521N ZNF100_ENST00000305570.6_Missense_Mutation_p.D457N NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TGGTTAAAGTCTTTACCACAT 0.373000 3 38 0 0 0.115264 0 0 EFCAB5 374786 broad.mit.edu 37 17 28383151 28383151 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:28383151T>A ENST00000394835.3 + 12 2534 c.2342T>A c.(2341-2343)aTc>aAc p.I781N EFCAB5_ENST00000394832.2_Missense_Mutation_p.I781N|EFCAB5_ENST00000536908.2_Missense_Mutation_p.I725N|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I438N|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I781N|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I781N NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 781 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCAAACTTAATCTATGGTAAC 0.343000 6 28 0 0 0.029380 0 0 KRT14 3861 broad.mit.edu 37 17 39740094 39740094 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:39740094C>T ENST00000167586.6 - 4 931 c.845G>A c.(844-846)cGc>cAc p.R282H NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 282 Linker 12.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GTTCAGAATGCGGCTCAGGTC 0.562000 4 143 0 0 0.009096 0 0 PDCL3 79031 broad.mit.edu 37 2 101188240 101188240 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:101188240G>A ENST00000264254.6 + 5 935 c.557G>A c.(556-558)gGc>gAc p.G186D NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 186 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 GTGTTTGGCGGCATGAACCTG 0.498000 4 132 0 0 0.029380 0 0 CDH11 1009 broad.mit.edu 37 16 65005562 65005562 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:65005562G>A ENST00000394156.3 - 11 2015 c.1562C>T c.(1561-1563)aCg>aTg p.T521M CDH11_ENST00000268603.4_Missense_Mutation_p.T521M|CDH11_ENST00000566827.1_Missense_Mutation_p.T395M P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 521 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCCATTGGCCGTGTCATCCTT 0.403000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 4 63 0 0 0.021553 0 0 RBM12B 389677 broad.mit.edu 37 8 94747019 94747019 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:94747019G>A ENST00000399300.2 - 3 1833 c.1620C>T c.(1618-1620)ttC>ttT p.F540F RBM12B_ENST00000517700.1_Silent_p.F540F|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 540 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGGATGCTTGAAGTTATCCA 0.493000 4 56 0 0 0.009096 0 0 GPR37 2861 broad.mit.edu 37 7 124404556 124404556 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:124404556C>A ENST00000303921.2 - 1 1125 c.475G>T c.(475-477)Gct>Tct p.A159S NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 159 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAAATGCCAGCGCCTCTGGGA 0.597000 3 44 0.00909568 0.00989416 0.009096 1 0 HUNK 30811 broad.mit.edu 37 21 33347015 33347015 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:33347015C>T ENST00000270112.2 + 7 1519 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C HUNK_ENST00000465574.1_3'UTR NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 387 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GAAACTGGAGCGCTATTTGTC 0.517000 3 63 0 0 0.014758 0 0 FAM129A 116496 broad.mit.edu 37 1 184764489 184764489 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:184764489G>A ENST00000367511.3 - 14 2602 c.2409C>T c.(2407-2409)ctC>ctT p.L803L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 803 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCTCCTCGGTGAGCCCTCCAC 0.677000 7 85 0 0 0.105934 0 0 ATP10D 57205 broad.mit.edu 37 4 47548645 47548645 + Missense_Mutation SNP G G C rs139734817 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:47548645G>C ENST00000273859.3 + 10 1670 c.1401G>C c.(1399-1401)agG>agC p.R467S ATP10D_ENST00000504445.1_Missense_Mutation_p.R452S NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 467 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCACAGCCAGGAGGTTGGAGT 0.453000 7 201 0 0 0.038147 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161165358 161165358 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:161165358G>T ENST00000367996.4 - 4 1586 c.1158C>A c.(1156-1158)acC>acA p.T386T ADAMTS4_ENST00000478394.1_5'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 386 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CATGGCGAGAGGTGCTCAAAG 0.557000 7 259 5.4927e-09 7.86643e-09 0.047766 1 0 HENMT1 113802 broad.mit.edu 37 1 109193697 109193697 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:109193697T>A ENST00000370032.5 - 6 953 c.533A>T c.(532-534)gAt>gTt p.D178V HENMT1_ENST00000402983.1_Missense_Mutation_p.D178V|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Missense_Mutation_p.D178V NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 178 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 ATGATCTGAATCTCTTAAGGT 0.398000 14 83 0 0 0.033300 0 0 FAM129B 64855 broad.mit.edu 37 9 130270748 130270748 + Nonsense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:130270748C>A ENST00000373312.3 - 11 1600 c.1387G>T c.(1387-1389)Gag>Tag p.E463* FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Nonsense_Mutation_p.E450* NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 463 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CACAGCTCCTCCTTGGTGGGC 0.667000 5 50 0.0293803 0.0307845 0.029380 1 0 GABRB3 2562 broad.mit.edu 37 15 26825498 26825498 + Missense_Mutation SNP C C A rs121913125 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:26825498C>A ENST00000541819.2 - 7 920 c.818G>T c.(817-819)cGt>cTt p.R273L GABRB3_ENST00000299267.4_Missense_Mutation_p.R217L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R132L|GABRB3_ENST00000400188.3_Missense_Mutation_p.R146L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R217L P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 217 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 NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CGAGACCAGACGGTGCTCCAC 0.557000 14 106 1.49906e-05 1.96881e-05 0.119110 1 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 7 0 0 0.115264 0 0 TTBK2 146057 broad.mit.edu 37 15 43086859 43086859 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:43086859C>T ENST00000267890.6 - 10 1071 c.963G>A c.(961-963)ttG>ttA p.L321L TTBK2_ENST00000567840.1_Silent_p.L321L|TTBK2_ENST00000567274.1_Silent_p.L286L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 321 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CAGCAGGGGTCAAGCGAGTGT 0.448000 4 70 0 0 0.021553 0 0 PNCK 139728 broad.mit.edu 37 X 152937446 152937446 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:152937446G>T ENST00000393831.2 - 5 737 c.303C>A c.(301-303)cgC>cgA p.R101R PNCK_ENST00000370142.1_Silent_p.R101R|PNCK_ENST00000370145.4_Silent_p.R118R|PNCK_ENST00000370150.1_Silent_p.R101R|PNCK_ENST00000340888.3_Silent_p.R101R|PNCK_ENST00000447676.2_Silent_p.R184R|PNCK_ENST00000475172.1_5'UTR NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 101 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCATGATGCGGTCAAACA 0.652000 5 41 8.12818e-05 0.000101602 0.029380 1 0 CSRP1 1465 broad.mit.edu 37 1 201465415 201465415 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:201465415C>T ENST00000367306.1 - 3 380 c.17G>A c.(16-18)gGa>gAa p.G6E CSRP1_ENST00000526723.1_Missense_Mutation_p.G6E|CSRP1_ENST00000531916.1_Missense_Mutation_p.G6E|CSRP1_ENST00000533432.1_Missense_Mutation_p.G6E|CSRP1_ENST00000532460.1_Missense_Mutation_p.G6E|CSRP1_ENST00000340006.2_Missense_Mutation_p.G6E|CSRP1_ENST00000458271.2_5'UTR P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 6 nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 TTTCTTGCCTCCTCCCCAGTT 0.478000 9 85 0 0 0.058154 0 0 VWA3B 200403 broad.mit.edu 37 2 98797496 98797496 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:98797496G>T ENST00000477737.1 + 9 1336 c.1132G>T c.(1132-1134)Gtt>Ttt p.V378F VWA3B_ENST00000451075.2_Missense_Mutation_p.V228F|VWA3B_ENST00000435344.1_Missense_Mutation_p.V378F NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 378 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AACAACCTCTGTTGAGATTGC 0.443000 16 37 4.75885e-15 7.29178e-15 0.033300 1 0 DCST1 149095 broad.mit.edu 37 1 155006927 155006927 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:155006927G>T ENST00000295542.1 + 3 174 c.78G>T c.(76-78)ctG>ctT p.L26L DCST1_ENST00000368419.2_Silent_p.L26L|DCST1_ENST00000423025.2_Silent_p.L26L|DCST1_ENST00000392480.1_Silent_p.L26L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 26 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGAGGCTCCTGACCTGGGGGC 0.647000 7 90 3.86212e-05 4.93589e-05 0.069234 1 0 MRC2 9902 broad.mit.edu 37 17 60741988 60741988 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:60741988G>T ENST00000303375.5 + 2 600 c.198G>T c.(196-198)ccG>ccT p.P66P NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 66 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GAGTCACCCCGGCTTGCAATA 0.632000 4 40 0.014758 0.0158121 0.014758 1 0 IGHV2-5 28457 broad.mit.edu 37 14 106494317 106494317 + RNA SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:106494317G>T ENST00000390597.2 - 0 194 GGGGGCTGACGGATCCAGCCC 0.562000 4 45 5.9392e-07 8.06034e-07 0.021553 1 0 ERRFI1 54206 broad.mit.edu 37 1 8075586 8075586 + Missense_Mutation SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:8075586T>G ENST00000377482.5 - 2 317 c.94A>C c.(94-96)Acc>Ccc p.T32P ERRFI1_ENST00000469499.1_Missense_Mutation_p.T32P|ERRFI1_ENST00000474874.1_Missense_Mutation_p.T32P|ERRFI1_ENST00000467067.1_Missense_Mutation_p.T32P NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 32 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTCCAGTAGGTCTTCCTCATA 0.433000 16 143 0 0 0.043863 0 0 DNAH9 1770 broad.mit.edu 37 17 11584180 11584180 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:11584180G>T ENST00000262442.3 + 19 3785 c.3717G>T c.(3715-3717)gaG>gaT p.E1239D DNAH9_ENST00000454412.2_Missense_Mutation_p.E1239D NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1239 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AATTCTGGGAGCAATTCCACA 0.522000 5 26 5.9392e-07 8.06034e-07 0.021553 1 0 MBOAT1 154141 broad.mit.edu 37 6 20113209 20113209 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:20113209G>A ENST00000541730.1 - 10 1255 c.660C>T c.(658-660)ccC>ccT p.P220P MBOAT1_ENST00000324607.7_Silent_p.P369P Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 369 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TTAGCACCGTGGGGTACCATG 0.458000 10 54 0 0 0.069234 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203707 140203707 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:140203707G>T ENST00000529859.1 + 1 2347 c.2347G>T c.(2347-2349)Gac>Tac p.D783Y PCDHA5_ENST00000378126.3_Missense_Mutation_p.D783Y|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D783Y NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTCTACAGACAACGTGAG 0.438000 6 17 0.00116845 0.00136478 0.021553 1 0 TRPM3 80036 broad.mit.edu 37 9 73151377 73151377 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:73151377A>T ENST00000377110.2 - 25 4859 c.4616T>A c.(4615-4617)gTa>gAa p.V1539E TRPM3_ENST00000396285.1_Missense_Mutation_p.V1398E|TRPM3_ENST00000360823.2_Missense_Mutation_p.V1401E|TRPM3_ENST00000396292.4_Missense_Mutation_p.V1411E|TRPM3_ENST00000357533.2_Missense_Mutation_p.V1543E|TRPM3_ENST00000358082.3_Missense_Mutation_p.V1401E|TRPM3_ENST00000377105.1_Missense_Mutation_p.V1398E|TRPM3_ENST00000377106.1_Missense_Mutation_p.V1411E|TRPM3_ENST00000408909.2_Missense_Mutation_p.V1398E|TRPM3_ENST00000396280.5_Missense_Mutation_p.V1388E|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.V1566E NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1564 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGCTGTTTTTACAGGCACCCC 0.468000 7 67 0 0 0.038147 0 0 SPANXN4 441525 broad.mit.edu 37 X 142113847 142113847 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:142113847C>A ENST00000370504.3 + 1 130 c.47C>A c.(46-48)cCc>cAc p.P16H SPANXN4_ENST00000446864.1_Missense_Mutation_p.P16H Q5MJ08 SPXN4_HUMAN SPANX family, member N4 16 endometrium(2)|large_intestine(2)|lung(3)|ovary(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAGAGCCCCTGTGAATCT 0.428000 5 40 8.12818e-05 0.000101602 0.029380 1 0 PDYN 5173 broad.mit.edu 37 20 1961230 1961230 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr20:1961230G>T ENST00000217305.2 - 4 729 c.504C>A c.(502-504)ccC>ccA p.P168P PDYN_ENST00000540134.1_Silent_p.P168P|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Silent_p.P168P NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 168 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTGCTCCTTGGGGTCCTCCT 0.597000 15 118 0.000308642 0.000371152 0.132662 1 0 PYROXD1 79912 broad.mit.edu 37 12 21621465 21621465 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:21621465C>T ENST00000538582.1 + 12 1820 c.1067C>T c.(1066-1068)gCa>gTa p.A356V PYROXD1_ENST00000240651.9_Missense_Mutation_p.A427V Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 427 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 AAATACAATGCACAGGGCTTA 0.368000 11 42 0 0 0.080935 0 0 ATP1A1 476 broad.mit.edu 37 1 116935540 116935540 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:116935540C>A ENST00000537345.1 + 11 1760 c.1397C>A c.(1396-1398)tCc>tAc p.S466Y ATP1A1_ENST00000295598.5_Missense_Mutation_p.S466Y|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S435Y NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 466 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TGCTGTGGTTCCGTGAAGGAG 0.493000 6 342 0.00198382 0.00227064 0.029380 1 0 MYL3 4634 broad.mit.edu 37 3 46904771 46904771 + Missense_Mutation SNP A A C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:46904771A>C ENST00000395869.1 - 1 161 c.110T>G c.(109-111)tTt>tGt p.F37C MYL3_ENST00000292327.4_Missense_Mutation_p.F37C P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 37 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) GGAAGCATCAAACTCGACCTC 0.587000 14 108 0 0 0.033300 0 0 HCFC1 3054 broad.mit.edu 37 X 153230086 153230086 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:153230086C>A ENST00000310441.7 - 2 1251 c.285G>T c.(283-285)ctG>ctT p.L95L HCFC1_ENST00000354233.3_Silent_p.L95L|HCFC1_ENST00000369984.4_Silent_p.L95L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 95 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACCAAACACCAGGAGGCGAG 0.587000 10 94 2.17888e-05 2.83553e-05 0.058154 1 0 CDCP1 64866 broad.mit.edu 37 3 45153843 45153843 + Silent SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:45153843G>C ENST00000296129.1 - 3 521 c.387C>G c.(385-387)gtC>gtG p.V129V CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Silent_p.V129V NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 129 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TATGAGCTTTGACATCCCAGA 0.532000 7 233 0 0 0.029380 0 0 ZNF71 58491 broad.mit.edu 37 19 57133886 57133886 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:57133886G>T ENST00000328070.6 + 3 1465 c.1231G>T c.(1231-1233)Gtg>Ttg p.V411L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 411 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GAAGCCCTACGTGTGCGGCGA 0.652000 21 95 1.66031e-10 2.41422e-10 0.091800 1 0 ZBTB39 9880 broad.mit.edu 37 12 57398384 57398384 + Silent SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:57398384A>G ENST00000300101.2 - 2 403 c.318T>C c.(316-318)gcT>gcC p.A106A NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 CCAGACGCTCAGCTACCTCGT 0.537000 20 129 0 0 0.076483 0 0 OR4D10 390197 broad.mit.edu 37 11 59245601 59245601 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:59245601G>T ENST00000530162.1 + 1 756 c.699G>T c.(697-699)agG>agT p.R233S NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGAGGGCAGGAGGAAAGCCA 0.537000 12 89 3.27435e-08 4.64274e-08 0.119110 1 0 TDP1 55775 broad.mit.edu 37 14 90429629 90429629 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:90429629G>C ENST00000335725.4 + 3 421 c.171G>C c.(169-171)aaG>aaC p.K57N TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.K57N|TDP1_ENST00000393452.3_Missense_Mutation_p.K57N|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.K57N NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 57 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CTGCACACAAGAGGAAAATAT 0.507000 Repair of DNA-protein crosslinks 3 120 0 0 0.115264 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129010 248129010 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:248129010A>T ENST00000366480.3 + 1 476 c.377A>T c.(376-378)gAa>gTa p.E126V OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGTGGAACTGAAGCCCTTCTC 0.448000 34 271 0 0 0.086207 0 0 KCNT2 343450 broad.mit.edu 37 1 196250087 196250087 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:196250087C>G ENST00000367433.5 - 24 2842 c.2741G>C c.(2740-2742)aGa>aCa p.R914T KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R938T|KCNT2_ENST00000367431.4_Missense_Mutation_p.R864T|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 938 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.R938I(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGCATAAGTTCTGATCCATAA 0.343000 6 16 0 0 0.021553 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23886493 23886493 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:23886493G>C ENST00000264867.2 - 2 235 c.116C>G c.(115-117)tCt>tGt p.S39C PPARGC1A_ENST00000507380.1_Missense_Mutation_p.S39C NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 39 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding p.S39C(1) central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATCTAGTTCAGAAAGATCAAG 0.428000 3 66 0 0 0.115264 0 0 LSMEM1 286006 broad.mit.edu 37 7 112124917 112124917 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:112124917G>C ENST00000312849.4 + 2 407 c.46G>C c.(46-48)Gat>Cat p.D16H LSMEM1_ENST00000439068.2_Missense_Mutation_p.D16H|LSMEM1_ENST00000429049.1_Missense_Mutation_p.D16H NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 CATTCAGGAAGATGGAAAGCT 0.453000 14 94 0 0 0.132662 0 0 TAF1 6872 broad.mit.edu 37 X 70602999 70602999 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:70602999C>G ENST00000449580.1 + 12 1980 c.1929C>G c.(1927-1929)atC>atG p.I643M TAF1_ENST00000276072.3_Missense_Mutation_p.I664M|TAF1_ENST00000373790.4_Missense_Mutation_p.I643M|TAF1_ENST00000423759.1_Missense_Mutation_p.I664M P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 643 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TAAAGCACATCAAAAAAAAGG 0.403000 7 49 0 0 0.047766 0 0 TAGAP 117289 broad.mit.edu 37 6 159463138 159463138 + Missense_Mutation SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:159463138T>G ENST00000367066.3 - 5 618 c.287A>C c.(286-288)gAc>gCc p.D96A RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.D96A|RP1-111C20.4_ENST00000606470.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 96 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGTGTCACTGTCACCGCAGAT 0.468000 4 201 0 0 0.014758 0 0 COL2A1 1280 broad.mit.edu 37 12 48369122 48369122 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:48369122G>A ENST00000380518.3 - 51 4028 c.3864C>T c.(3862-3864)ctC>ctT p.L1288L COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.L1219L NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1288 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGGGTGGCAGAGTTTCAGGT 0.597000 6 35 0 0 0.058154 0 0 LARP4 113251 broad.mit.edu 37 12 50869442 50869442 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:50869442C>T ENST00000398473.2 + 16 2082 c.1970C>T c.(1969-1971)cCt>cTt p.P657L LARP4_ENST00000293618.8_Missense_Mutation_p.P586L|LARP4_ENST00000518444.1_Missense_Mutation_p.P656L|LARP4_ENST00000347328.5_Missense_Mutation_p.P586L|LARP4_ENST00000429001.3_Missense_Mutation_p.P663L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 657 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 AATGGAGCTCCTGAGAACTCC 0.507000 8 76 0 0 0.047766 0 0 TACR3 6870 broad.mit.edu 37 4 104640714 104640714 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:104640714C>A ENST00000304883.2 - 1 259 c.119G>T c.(118-120)gGg>gTg p.G40V NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 40 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TTGCAGCCACCCAGTCTCAAC 0.697000 4 29 0.000157383 0.000194174 0.038147 1 0 RHBDL3 162494 broad.mit.edu 37 17 30643270 30643270 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:30643270G>T ENST00000269051.4 + 8 916 c.902G>T c.(901-903)tGc>tTc p.C301F RHBDL3_ENST00000538145.1_Missense_Mutation_p.C293F|RHBDL3_ENST00000536287.1_Missense_Mutation_p.C203F NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 301 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) GGCATGAAGTGCCAGTTCAAG 0.522000 28 154 7.26314e-15 1.10695e-14 0.125774 1 0 CDH13 1012 broad.mit.edu 37 16 83704557 83704557 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:83704557G>T ENST00000566620.1 + 9 1554 c.1264G>T c.(1264-1266)Ggg>Tgg p.G422W CDH13_ENST00000428848.3_Missense_Mutation_p.G383W|CDH13_ENST00000268613.10_Missense_Mutation_p.G469W NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 422 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AACCAACGAAGGGATGCTTTC 0.532000 33 236 3.93418e-24 6.0937e-24 0.069456 1 0 ZNF711 7552 broad.mit.edu 37 X 84526774 84526774 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:84526774C>A ENST00000360700.4 + 10 3250 c.2364C>A c.(2362-2364)ttC>ttA p.F788L ZNF711_ENST00000373165.3_Missense_Mutation_p.F742L|ZNF711_ENST00000395402.1_Missense_Mutation_p.F750L|ZNF711_ENST00000276123.3_Missense_Mutation_p.F742L|ZNF711_ENST00000542798.1_Missense_Mutation_p.F584L Q9Y462 ZN711_HUMAN zinc finger protein 711 742 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGAAGGGATTCCGAAGACCAT 0.363000 11 54 0.0135373 0.0146697 0.093190 1 0 ORC3 23595 broad.mit.edu 37 6 88299900 88299900 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:88299900C>T ENST00000392844.3 + 1 62 c.14C>T c.(13-15)tCg>tTg p.S5L ORC3_ENST00000257789.4_Missense_Mutation_p.S5L|ORC3_ENST00000417380.2_5'UTR|ORC3_ENST00000546266.1_5'UTR NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 5 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 GCTACGTCCTCGATGTCTAAG 0.587000 10 62 0 0 0.093190 0 0 PSME2 5721 broad.mit.edu 37 14 24615758 24615758 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:24615758C>A ENST00000216802.5 - 1 672 c.33G>T c.(31-33)ggG>ggT p.G11G PSME2_ENST00000560410.1_Silent_p.G11G|PSME2_ENST00000471700.2_5'UTR NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) TGCGGGCTTCCCCGCTCAGGC 0.627000 4 32 0.00909568 0.00989416 0.009096 1 0 FCRL3 115352 broad.mit.edu 37 1 157665171 157665171 + Silent SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:157665171T>A ENST00000368184.3 - 8 1650 c.1359A>T c.(1357-1359)gcA>gcT p.A453A FCRL3_ENST00000368186.5_Silent_p.A453A|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 453 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GGCCATTGTCTGCATCACAGG 0.532000 56 210 0 0 0.139131 0 0 CD34 947 broad.mit.edu 37 1 208072455 208072455 + Missense_Mutation SNP C C T rs146237257 byFrequency TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:208072455C>T ENST00000356522.4 - 3 700 c.379G>A c.(379-381)Gtt>Att p.V127I CD34_ENST00000310833.7_Missense_Mutation_p.V127I|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 127 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGAGTTGAAACGTTGGCTGGG 0.473000 11 233 0 0 0.069234 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17055906 17055906 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:17055906G>C ENST00000262096.8 + 6 1155 c.460G>C c.(460-462)Gat>Cat p.D154H NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 154 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) TTTGAAGATGGATCATCATTG 0.264000 3 36 0 0 0.115264 0 0 EP300 2033 broad.mit.edu 37 22 41573107 41573107 + Nonsense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:41573107G>T ENST00000263253.7 + 31 6611 c.5392G>T c.(5392-5394)Gag>Tag p.E1798* RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1798 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GCACTGCCAGGAGAACAAATG 0.572000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 115 0.000602214 0.000712162 0.014758 1 0 ARID4B 51742 broad.mit.edu 37 1 235338529 235338529 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:235338529G>T ENST00000264183.3 - 22 4131 c.3634C>A c.(3634-3636)Ccc>Acc p.P1212T ARID4B_ENST00000349213.3_Missense_Mutation_p.P1126T|ARID4B_ENST00000366603.2_Missense_Mutation_p.P1212T NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1212 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TAAACTTTGGGTAATCGATTA 0.373000 17 107 4.35082e-09 6.26254e-09 0.055883 1 0 PAX3 5077 broad.mit.edu 37 2 223066780 223066780 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:223066780G>C ENST00000350526.4 - 8 1439 c.1303C>G c.(1303-1305)Cat>Gat p.H435D PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Missense_Mutation_p.H435D|PAX3_ENST00000392069.2_Missense_Mutation_p.H435D|PAX3_ENST00000409551.3_Missense_Mutation_p.H434D NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 435 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCTTCATATGGTCTAGTCTC 0.562000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 3 44 0 0 0.014758 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812637 16812637 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:16812637G>A ENST00000355661.3 - 20 2865 c.2855C>T c.(2854-2856)tCt>tTt p.S952F PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S952F|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S953F|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 952 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCCCCGCACAGATGTGTGCCG 0.682000 6 18 0 0 0.029380 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745944 77745944 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:77745944T>C ENST00000409088.3 - 3 1465 c.1051A>G c.(1051-1053)Agt>Ggt p.S351G LRRTM4_ENST00000409282.1_Missense_Mutation_p.S352G|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S351G|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S351G|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S352G NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 351 LRRCT. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) ACTGCATCACTAACCTTTTCA 0.418000 3 16 0 0 0.009096 0 0 HKDC1 80201 broad.mit.edu 37 10 71000488 71000488 + Nonsense_Mutation SNP C C A rs144034774 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:71000488C>A ENST00000354624.5 + 6 805 c.672C>A c.(670-672)tgC>tgA p.C224* HKDC1_ENST00000395086.2_Nonsense_Mutation_p.C224* NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 224 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 ACCCCTACTGCGAAGTTGGTG 0.527000 5 52 8.12818e-05 0.000101602 0.029380 1 0 FPR1 2357 broad.mit.edu 37 19 52249646 52249646 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:52249646C>T ENST00000595042.1 - 3 743 c.602G>A c.(601-603)aGa>aAa p.R201K FPR1_ENST00000304748.4_Missense_Mutation_p.R201K NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 201 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GATGATGCCTCTCACCGTCAA 0.507000 21 102 0 0 0.144211 0 0 CPZ 8532 broad.mit.edu 37 4 8607717 8607717 + Splice_Site SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:8607717G>A ENST00000382480.2 + 5 1100 c.298_splice c.e5-1 p.M100_splice CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Splice_Site_p.M226_splice|CPZ_ENST00000360986.4_Splice_Site_p.M237_splice NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 237 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGCCCCCAGTGGAGCCCGAGG 0.602000 4 32 0 0 0.009096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604068 54604068 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:54604068G>A ENST00000474759.1 + 8 873 c.825G>A c.(823-825)gcG>gcA p.A275A CACNA2D3_ENST00000288197.5_Silent_p.A275A|CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 275 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGACTATCGCGAAGCAAACAG 0.473000 15 67 0 0 0.132662 0 0 OR2B11 127623 broad.mit.edu 37 1 247615096 247615096 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:247615096C>A ENST00000318749.6 - 1 212 c.189G>T c.(187-189)atG>atT p.M63I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGAAGATGTACATGGGGCTGT 0.567000 77 170 5.82064e-54 9.11474e-54 0.139131 1 0 NUTM1 256646 broad.mit.edu 37 15 34647923 34647923 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:34647923C>A ENST00000537011.1 + 8 2096 c.1714C>A c.(1714-1716)Cta>Ata p.L572I NUTM1_ENST00000333756.4_Missense_Mutation_p.L544I|NUTM1_ENST00000438749.3_Missense_Mutation_p.L562I NUT midline carcinoma, family member 1 GGAGCAAGCCCTAGATAGCCC 0.617000 19 109 2.21704e-12 3.32555e-12 0.076483 1 0 CEACAM7 1087 broad.mit.edu 37 19 42187792 42187792 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:42187792G>A ENST00000006724.3 - 3 831 c.630C>T c.(628-630)gaC>gaT p.D210D CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.D210D|CEACAM7_ENST00000338196.4_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 210 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) AGGGTCCTATGTCATTCTTTG 0.537000 48 130 0 0 0.131918 0 0 EP300 2033 broad.mit.edu 37 22 41572505 41572505 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:41572505G>A ENST00000263253.7 + 30 6253 c.5034G>A c.(5032-5034)gaG>gaA p.E1678E RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1678 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACCATGTGGAGACACGCTGGC 0.587000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 10 91 0 0 0.069234 0 0 SLC36A1 206358 broad.mit.edu 37 5 150867731 150867731 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:150867731G>T ENST00000243389.3 + 11 1570 c.1347G>T c.(1345-1347)gtG>gtT p.V449V SLC36A1_ENST00000520701.1_Silent_p.V449V NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 449 VV -> GG (in Ref. 2; AAP47194). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TGGGCTTTGTGGTGGGGACCT 0.552000 12 70 0.00136819 0.0015851 0.093190 1 0 PKP4 8502 broad.mit.edu 37 2 159517892 159517892 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:159517892G>T ENST00000389757.3 + 13 2266 c.2141G>T c.(2140-2142)tGc>tTc p.C714F AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.C714F NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 714 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ATGCGGTCCTGCGAGGGGCTG 0.577000 HNSCC(62;0.18) 5 53 0.000602214 0.000712162 0.014758 1 0 MT-CO2 4513 broad.mit.edu 37 MT 7850 7850 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrM:7850G>A ENST00000361739.1 + 1 265 c.265G>A c.(265-267)Gag>Aag p.E89K mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 ACATAACAGACGAGGTCAACG 0.502000 20 862 0 0 0.069288 0 0 OAS3 4940 broad.mit.edu 37 12 113385773 113385773 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:113385773G>C ENST00000228928.7 + 5 1077 c.898G>C c.(898-900)Gac>Cac p.D300H RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 300 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGACCCAGCTGACCCCACATG 0.572000 4 22 0 0 0.014758 0 0 UNC80 285175 broad.mit.edu 37 2 210642159 210642159 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:210642159G>T ENST00000439458.1 + 4 556 c.476G>T c.(475-477)gGg>gTg p.G159V UNC80_ENST00000272845.5_Missense_Mutation_p.G159V|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 159 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GGTTCTCCAGGGCAGCCTTGC 0.522000 19 93 0.00121646 0.00141507 0.049695 1 0 UBE2NL 389898 broad.mit.edu 37 X 142967318 142967318 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:142967318T>A ENST00000370494.1 + 1 146 c.116T>A c.(115-117)aTt>aAt p.I39N NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 39 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CATGTGGTCATTGCTGGGGAA 0.478000 23 94 0 0 0.091800 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805362 106805362 + RNA SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:106805362C>A ENST00000438142.2 - 0 272 ACCCAATCCACTCCAGGCCCT 0.547000 18 249 7.45023e-12 1.11168e-11 0.055883 1 0 ZNF142 7701 broad.mit.edu 37 2 219509519 219509519 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:219509519G>A ENST00000411696.2 - 7 2499 c.1720C>T c.(1720-1722)Cac>Tac p.H574Y ZNF142_ENST00000449707.1_Missense_Mutation_p.H574Y P52746 ZN142_HUMAN zinc finger protein 142 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGGCACAGTGGAACTCACGG 0.582000 3 38 0 0 0.009096 0 0 LRRN3 54674 broad.mit.edu 37 7 110763928 110763928 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:110763928G>T ENST00000451085.1 + 4 2146 c.1100G>T c.(1099-1101)aGt>aTt p.S367I IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S367I|LRRN3_ENST00000422987.3_Missense_Mutation_p.S367I|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 367 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AGCATACACAGTAACCCCATC 0.483000 4 43 1.024e-07 1.43764e-07 0.014758 1 0 TMC2 117532 broad.mit.edu 37 20 2616585 2616585 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr20:2616585T>A ENST00000358864.1 + 18 2335 c.2320T>A c.(2320-2322)Tac>Aac p.Y774N NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 774 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GGCCATTTACTACCTGAACTC 0.507000 15 49 0 0 0.146539 0 0 TRAV34 28648 broad.mit.edu 37 14 22675815 22675815 + RNA SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:22675815T>A ENST00000390461.2 + 0 139 CACCATAAACTGCACGTCATC 0.418000 8 57 0 0 0.038147 0 0 IGSF10 285313 broad.mit.edu 37 3 151164577 151164577 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:151164577C>A ENST00000282466.3 - 4 3191 c.3192G>T c.(3190-3192)ctG>ctT p.L1064L NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1064 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAAGACAGGACAGACATGTCA 0.502000 13 67 5.50884e-06 7.37098e-06 0.093190 1 0 OR2V2 285659 broad.mit.edu 37 5 180582495 180582495 + Silent SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:180582495T>C ENST00000328275.1 + 1 553 c.553T>C c.(553-555)Ttg>Ctg p.L185L NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGCTATCCTTGTTGAAGCT 0.463000 13 137 0 0 0.093190 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161165357 161165357 + Missense_Mutation SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:161165357A>G ENST00000367996.4 - 4 1587 c.1159T>C c.(1159-1161)Tct>Cct p.S387P ADAMTS4_ENST00000478394.1_5'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 387 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACATGGCGAGAGGTGCTCAAA 0.552000 7 258 0 0 0.047766 0 0 ALG13 79868 broad.mit.edu 37 X 110988105 110988105 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:110988105G>C ENST00000394780.3 + 24 2917 c.2905G>C c.(2905-2907)Gat>Cat p.D969H ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 969 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TTATTCCTGTGATCCAAGCGG 0.468000 3 37 0 0 0.014758 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019381 131019381 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:131019381C>T ENST00000421699.2 - 26 2986 c.2974G>A c.(2974-2976)Gac>Aac p.D992N NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 992 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 TCATTCTCGTCAGCCCGGTAA 0.557000 17 166 0 0 0.043863 0 0 ATP9B 374868 broad.mit.edu 37 18 77097342 77097342 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:77097342G>A ENST00000426216.2 + 19 2193 c.2176G>A c.(2176-2178)Gag>Aag p.E726K ATP9B_ENST00000543761.1_Missense_Mutation_p.E47K|ATP9B_ENST00000307671.7_Missense_Mutation_p.E726K NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 726 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CGCGGTAGTCGAGAGCCTGGA 0.662000 7 35 0 0 0.029380 0 0 CHD3 1107 broad.mit.edu 37 17 7803982 7803982 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:7803982G>A ENST00000380358.4 + 18 3089 c.3088G>A c.(3088-3090)Gat>Aat p.D1030N CHD3_ENST00000358181.4_Missense_Mutation_p.D971N|CHD3_ENST00000330494.7_Missense_Mutation_p.D971N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 971 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ACTCAAGGCAGATGTCTTTAA 0.532000 20 109 0 0 0.076483 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11391 11391 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrM:11391G>A ENST00000361381.2 + 1 632 c.632G>A c.(631-633)gGa>gAa p.211_211insE mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACCTCTTTACGGACTCCACTT 0.433000 59 531 0 0 0.139131 0 0 POM121L2 94026 broad.mit.edu 37 6 27278064 27278064 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:27278064G>C ENST00000444565.1 - 1 1885 c.1886C>G c.(1885-1887)gCc>gGc p.A629G POM121L2_ENST00000377451.2_Missense_Mutation_p.A565G NM_033482.3 NP_258443.2 C9J1I7 C9J1I7_HUMAN POM121 transmembrane nucleoporin-like 2 629 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 7 AGATGTGCTGGCTAGGGTGGT 0.498000 3 7 0 0 0.009096 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537635 27537635 + RNA SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:27537635G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTTTATTGCAGGATAAATCTA 0.338000 7 33 0 0 0.029380 0 0 RBM11 54033 broad.mit.edu 37 21 15599378 15599378 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:15599378G>T ENST00000400577.3 + 5 619 c.610G>T c.(610-612)Gct>Tct p.A204S RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 204 nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TCAGATGACAGCTCCACTTCC 0.463000 22 185 1.1804e-14 1.78943e-14 0.091800 1 0 MMP1 4312 broad.mit.edu 37 11 102667843 102667843 + Missense_Mutation SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:102667843A>G ENST00000315274.6 - 3 468 c.401T>C c.(400-402)aTt>aCt p.I134T WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 134 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GGCTTTCTCAATGGCATGGTC 0.438000 14 67 0 0 0.119110 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100645 89100645 + RNA SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:89100645C>A ENST00000393525.3 + 0 1119 ACAAAGCTGACAATCAAGAAA 0.373000 3 42 0.115264 0.118593 0.115264 1 0 MUC16 94025 broad.mit.edu 37 19 9073841 9073841 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:9073841T>C ENST00000397910.4 - 3 13808 c.13605A>G c.(13603-13605)atA>atG p.I4535M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4537 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCTTTGTTTATGGAAGGAT 0.453000 10 119 0 0 0.132662 0 0 ABCB11 8647 broad.mit.edu 37 2 169787280 169787280 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:169787280C>A ENST00000263817.6 - 25 3430 c.3306G>T c.(3304-3306)tcG>tcT p.S1102S NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1102 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTGGACTAATCGACACTGAGA 0.458000 5 68 0.0293803 0.0307845 0.029380 1 0 KIF4A 24137 broad.mit.edu 37 X 69595967 69595967 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:69595967G>T ENST00000374403.3 + 18 2023 c.1941G>T c.(1939-1941)cgG>cgT p.R647R KIF4A_ENST00000374388.3_Silent_p.R647R NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 647 anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 AAAACCAGCGGGTACAGTTAA 0.358000 10 42 0.000673444 0.000793106 0.069234 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21453282 21453282 + Splice_Site SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:21453282C>G ENST00000307378.6 - 9 1630 c.910_splice c.e9+1 p.D304_splice SLCO1A2_ENST00000390670.3_Splice_Site_p.D302_splice|SLCO1A2_ENST00000452078.1_Splice_Site_p.D304_splice|SLCO1A2_ENST00000537524.1_Splice_Site_p.D172_splice|SLCO1A2_ENST00000458504.1_Splice_Site_p.D172_splice NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 304 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GTATATTTGCCTTTAGTGATT 0.299000 3 18 0 0 0.115264 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182920510 182920510 + Silent SNP A A G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:182920510A>G ENST00000367547.3 - 2 734 c.498T>C c.(496-498)agT>agC p.S166S SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.S47S NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 238 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 CAAAGAATACACTGGGATTAG 0.328000 6 21 0 0 0.029380 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092880 151092880 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:151092880C>A ENST00000370335.1 + 3 1011 c.744C>A c.(742-744)acC>acA p.T248T MAGEA4_ENST00000370340.3_Silent_p.T248T|MAGEA4_ENST00000370337.4_Silent_p.T248T|MAGEA4_ENST00000276344.2_Silent_p.T248T|MAGEA4_ENST00000360243.2_Silent_p.T248T|MAGEA4_ENST00000393920.1_Silent_p.T248T|MAGEA4_ENST00000393921.1_Silent_p.T248T P43358 MAGA4_HUMAN melanoma antigen family A, 4 248 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) AACTGCTCACCCAAGATTGGG 0.582000 3 33 0.115264 0.118593 0.115264 1 0 EIF2AK4 440275 broad.mit.edu 37 15 40259689 40259689 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:40259689G>T ENST00000263791.5 + 9 1205 c.1162G>T c.(1162-1164)Gct>Tct p.A388S EIF2AK4_ENST00000382727.2_Missense_Mutation_p.A388S|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.A388S NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 388 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GGTCTCTCTTGCTGCACACCT 0.512000 6 88 0.00621372 0.00691761 0.058154 1 0 MYO1E 4643 broad.mit.edu 37 15 59553679 59553679 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:59553679G>A ENST00000288235.4 - 3 576 c.177C>T c.(175-177)gtC>gtT p.V59V MYO1E_ENST00000558814.1_Intron NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 59 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TGAAAGGGTTGACTGAGATTA 0.343000 8 98 0 0 0.038147 0 0 GRM1 2911 broad.mit.edu 37 6 146350825 146350825 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:146350825C>A ENST00000392299.2 + 2 642 c.172C>A c.(172-174)Ccg>Acg p.P58T GRM1_ENST00000507907.1_Missense_Mutation_p.P58T|GRM1_ENST00000361719.2_Missense_Mutation_p.P58T|GRM1_ENST00000282753.1_Missense_Mutation_p.P58T|GRM1_ENST00000355289.4_Missense_Mutation_p.P58T|GRM1_ENST00000492807.2_Missense_Mutation_p.P58T Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 58 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCACCAGCCTCCGGCCGAGAA 0.582000 10 46 9.31168e-06 1.24011e-05 0.105934 1 0 THY1 7070 broad.mit.edu 37 11 119290907 119290907 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:119290907G>T ENST00000284240.5 - 3 1266 c.227C>A c.(226-228)tCc>tAc p.S76Y USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.S76Y|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.S59Y|USP2-AS1_ENST00000498979.2_RNA NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 76 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GTTGGTTCGGGAGCGGTATGT 0.547000 16 83 1.2644e-06 1.70784e-06 0.055883 1 0 OR4A15 81328 broad.mit.edu 37 11 55135511 55135511 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:55135511G>A ENST00000314706.3 + 1 152 c.152G>A c.(151-153)gGg>gAg p.G51E NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 51 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 AACCCTGAGGGGCAAAAGGTT 0.448000 8 36 0 0 0.047766 0 0 AMER1 139285 broad.mit.edu 37 X 63412038 63412038 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:63412038C>T ENST00000330258.3 - 2 1401 c.1129G>A c.(1129-1131)Gat>Aat p.D377N AMER1_ENST00000403336.1_Missense_Mutation_p.D377N|AMER1_ENST00000374869.3_Missense_Mutation_p.D377N NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) tcGTCATCATCATCTGGCAAG 0.527000 26 151 0 0 0.108266 0 0 OCA2 4948 broad.mit.edu 37 15 28000612 28000612 + Silent SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:28000612G>C ENST00000354638.3 - 24 2594 c.2439C>G c.(2437-2439)ggC>ggG p.G813G OCA2_ENST00000353809.5_Silent_p.G789G NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 813 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TCATTGGGAAGCCCAGCCTGA 0.448000 Oculocutaneous Albinism 10 58 0 0 0.093190 0 0 OR51G2 81282 broad.mit.edu 37 11 4936450 4936450 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:4936450C>A ENST00000322013.3 - 1 472 c.444G>T c.(442-444)agG>agT p.R148S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGGCCAATCCTGCCAATGA 0.483000 6 24 3.59834e-05 4.66148e-05 0.021553 1 0 IL7R 3575 broad.mit.edu 37 5 35874618 35874618 + Silent SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:35874618C>A ENST00000303115.3 + 6 903 c.774C>A c.(772-774)atC>atA p.I258I IL7R_ENST00000343305.4_Intron|IL7R_ENST00000506850.1_Intron NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 258 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGTTGGTCATCTTGGCCTGTG 0.428000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 6 30 0.00198382 0.00227064 0.029380 1 0 PRF1 5551 broad.mit.edu 37 10 72358889 72358889 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:72358889G>A ENST00000441259.1 - 3 748 c.588C>T c.(586-588)gcC>gcT p.A196A PRF1_ENST00000373209.2_Silent_p.A196A NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 196 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GGTCCCCGAGGGCCCTCTTGA 0.622000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 4 13 0 0 0.009096 0 0 SLFN13 146857 broad.mit.edu 37 17 33772525 33772525 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:33772525C>T ENST00000285013.6 - 3 450 c.175G>A c.(175-177)Gga>Aga p.G59R SLFN13_ENST00000542635.1_Missense_Mutation_p.G59R|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.G59R|SLFN13_ENST00000526861.1_Missense_Mutation_p.G59R|SLFN13_ENST00000360502.2_Intron NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 59 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGAATCACTCCTCCTCCTGAG 0.448000 5 83 0 0 0.021553 0 0 MUC16 94025 broad.mit.edu 37 19 9059040 9059040 + Missense_Mutation SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:9059040G>C ENST00000397910.4 - 3 28609 c.28406C>G c.(28405-28407)tCt>tGt p.S9469C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9471 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATCATGATAGAGGTGAAAAG 0.483000 47 144 0 0 0.139131 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627328 21627328 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:21627328C>A ENST00000425654.2 + 19 2675 c.2195C>A c.(2194-2196)gCc>gAc p.A732D CNKSR2_ENST00000279451.4_Missense_Mutation_p.A762D|CNKSR2_ENST00000543067.1_Missense_Mutation_p.A713D|CNKSR2_ENST00000379510.3_Missense_Mutation_p.A762D NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 762 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CGCAAGACAGCCAGTCAGCGC 0.527000 7 55 3.86212e-05 4.93589e-05 0.069234 1 0 CFH 3075 broad.mit.edu 37 1 196695702 196695702 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:196695702G>T ENST00000367429.4 + 13 2216 c.1976G>T c.(1975-1977)tGc>tTc p.C659F NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 659 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GAATATTATTGCAATCCTAGA 0.353000 7 75 2.0095e-06 2.70145e-06 0.029380 1 0 MT-CYB 4519 broad.mit.edu 37 MT 14902 14902 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrM:14902C>T ENST00000361789.2 + 1 156 c.156C>T c.(154-156)gcC>gcT p.52_52insA mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CTATTCCTAGCCATACACTAC 0.522000 6 719 0 0 0.021553 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540638 94540638 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:94540638A>T ENST00000289495.5 + 1 1429 c.1213A>T c.(1213-1215)Agg>Tgg p.R405W PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R405W|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R405W|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R405W|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R405W|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R405W NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 405 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TAATGTGTATAGGGTGAGATC 0.428000 HNSCC(28;0.073) 3 16 0 0 0.115264 0 0 SEC24C 9632 broad.mit.edu 37 10 75526300 75526300 + Splice_Site SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:75526300G>T ENST00000339365.2 + 13 1961 c.e13+1 SEC24C_ENST00000411652.2_Splice_Site|SEC24C_ENST00000345254.4_Splice_Site|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Splice_Site|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTATCACCAGGTAAGAGCCAG 0.512000 6 97 0.0215528 0.0228347 0.021553 1 0 HAUS8 93323 broad.mit.edu 37 19 17170423 17170423 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:17170423T>C ENST00000593360.1 - 5 2199 c.181A>G c.(181-183)Aca>Gca p.T61A HAUS8_ENST00000448593.2_Missense_Mutation_p.T121A|HAUS8_ENST00000253669.5_Missense_Mutation_p.T122A Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 122 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 TTTGATATTGTTTTTGCTAAC 0.438000 5 58 0 0 0.014758 0 0 NANOS2 339345 broad.mit.edu 37 19 46417902 46417902 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:46417902T>A ENST00000341294.2 - 1 134 c.50A>T c.(49-51)cAg>cTg p.Q17L NM_001029861.2 NP_001025032.1 P60321 NANO2_HUMAN nanos homolog 2 (Drosophila) 17 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) CCACACCACCTGGCTCAGGTT 0.652000 7 58 0 0 0.038147 0 0 ENPP6 133121 broad.mit.edu 37 4 185018489 185018489 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:185018489G>A ENST00000296741.2 - 7 1167 c.1026C>T c.(1024-1026)agC>agT p.S342S NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 342 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GCCTGCCGGTGCTGTTCATCC 0.597000 9 60 0 0 0.105934 0 0 NAV1 89796 broad.mit.edu 37 1 201751666 201751666 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:201751666C>G ENST00000367296.4 + 6 2446 c.2026C>G c.(2026-2028)Cca>Gca p.P676A NAV1_ENST00000367300.3_Missense_Mutation_p.P676A|NAV1_ENST00000295624.6_Missense_Mutation_p.P676A|NAV1_ENST00000367302.1_Missense_Mutation_p.P689A|NAV1_ENST00000367297.4_Missense_Mutation_p.P676A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.P285A NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 676 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCTGCCCCGGCCAGCCAAGTC 0.607000 35 88 0 0 0.139131 0 0 SSTR1 6751 broad.mit.edu 37 14 38679765 38679765 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:38679765C>T ENST00000267377.2 + 3 1788 c.1171C>T c.(1171-1173)Ctc>Ttc p.L391F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 391 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GATCACGACGCTCTGAGCCCG 0.652000 9 20 0 0 0.047766 0 0 SRM 6723 broad.mit.edu 37 1 11115026 11115026 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:11115026G>A ENST00000376957.2 - 7 961 c.881C>T c.(880-882)gCc>gTc p.A294V NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 294 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) CACCTTGCGGGCAAACTCGGG 0.667000 3 10 0 0 0.115264 0 0 LINC00854 100874261 broad.mit.edu 37 17 41381938 41381938 + RNA SNP C C G rs4986161 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:41381938C>G ENST00000433702.2 - 0 14 NR_047479.1 aagagctgatcttatgcaggg 0.552000 3 35 0 0 0.115264 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543636 46543636 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:46543636C>T ENST00000242848.4 - 14 3391 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1015N Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1015 Lys-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCAGAAATATCAGAATCACCT 0.373000 12 71 0 0 0.080935 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 4 292 0 0 0.029380 0 0 MUC16 94025 broad.mit.edu 37 19 9065662 9065662 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:9065662C>T ENST00000397910.4 - 3 21987 c.21784G>A c.(21784-21786)Gag>Aag p.E7262K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7264 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCACTTGTCTCTATGGCTGAG 0.483000 5 308 0 0 0.014758 0 0 CDHR1 92211 broad.mit.edu 37 10 85973089 85973089 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:85973089C>A ENST00000372117.3 + 16 2128 c.2025C>A c.(2023-2025)gaC>gaA p.D675E CDHR1_ENST00000440770.2_Missense_Mutation_p.D379E|CDHR1_ENST00000332904.3_Missense_Mutation_p.D675E NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 675 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TCAAGATTGACATCACAGATG 0.562000 4 141 0.00024832 0.000303739 0.009096 1 0 MIR4485 100616263 broad.mit.edu 37 MT 2143 2143 + RNA SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrM:2143G>A ENST00000387347.2 + 0 473 NR_039705.1 AAAAACCTTGTAGAGAGAGTA 0.383000 15 724 0 0 0.033300 0 0 MRPS2 51116 broad.mit.edu 37 9 138395821 138395821 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:138395821G>T ENST00000371785.1 + 5 942 c.733G>T c.(733-735)Gct>Tct p.A245S MRPS2_ENST00000241600.5_Missense_Mutation_p.A245S|RP11-426A6.5_ENST00000415062.1_RNA Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 245 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) CTCTCCGCTGGCTGTGCACCT 0.617000 5 33 2.17888e-05 2.83553e-05 0.058154 1 0 GLUD2 2747 broad.mit.edu 37 X 120182570 120182570 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:120182570C>A ENST00000328078.1 + 1 1109 c.1032C>A c.(1030-1032)gaC>gaA p.D344E NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 344 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) ATGGTATTGACCCAAAGGAAC 0.453000 16 100 1.01871e-10 1.50432e-10 0.049695 1 0 CDC73 79577 broad.mit.edu 37 1 193117052 193117052 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:193117052G>T ENST00000367435.3 + 8 969 c.785G>T c.(784-786)gGg>gTg p.G262V NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 262 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 AGAGAAGAAGGGCGTGCACCT 0.363000 7 20 1.06961e-07 1.48702e-07 0.038147 1 0 SULT4A1 25830 broad.mit.edu 37 22 44234824 44234824 + Missense_Mutation SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:44234824T>A ENST00000330884.4 - 4 551 c.431A>T c.(430-432)cAg>cTg p.Q144L SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.Q144L NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 144 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) GCGGTGGAACTGATAATAAGA 0.547000 4 21 0 0 0.009096 0 0 PAX5 5079 broad.mit.edu 37 9 36846921 36846921 + Nonsense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:36846921C>A ENST00000358127.4 - 9 1092 c.1018G>T c.(1018-1020)Gag>Tag p.E340* PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377852.2_Nonsense_Mutation_p.E306*|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000522003.1_Nonsense_Mutation_p.E232*|PAX5_ENST00000446742.1_Nonsense_Mutation_p.E240*|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000414447.1_Nonsense_Mutation_p.E297*|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523241.1_Silent_p.V262V NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 340 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CCGGAAAACTCACTCCCTGTG 0.577000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 3 21 0.115264 0.118593 0.115264 1 0 ZNF91 7644 broad.mit.edu 37 19 23542561 23542561 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:23542561T>C ENST00000300619.7 - 4 3425 c.3220A>G c.(3220-3222)Aga>Gga p.R1074G ZNF91_ENST00000397082.2_Missense_Mutation_p.R1042G|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1074 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTTCTCTCTAGTATGAATT 0.383000 3 93 0 0 0.115264 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476176 84476176 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:84476176G>A ENST00000416219.2 + 15 1461 c.1372G>A c.(1372-1374)Gag>Aag p.E458K ATP2C2_ENST00000262429.4_Missense_Mutation_p.E458K|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 458 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCAGCCCACCGAGGGTGCATT 0.577000 6 176 0 0 0.021553 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) 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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 6 0.014758 0.0158121 0.014758 1 0 EGFL6 25975 broad.mit.edu 37 X 13645150 13645150 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:13645150G>T ENST00000361306.1 + 11 1563 c.1306G>T c.(1306-1308)Gtt>Ttt p.V436F EGFL6_ENST00000380602.3_Missense_Mutation_p.V437F|EGFL6_ENST00000473826.1_3'UTR NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 436 MAM. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CTATATGGCAGTTCCGGCCTT 0.403000 7 47 3.86212e-05 4.93589e-05 0.069234 1 0 NCOA1 8648 broad.mit.edu 37 2 24930338 24930338 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:24930338G>T ENST00000405141.1 + 14 2710 c.1999G>T c.(1999-2001)Gcc>Tcc p.A667S NCOA1_ENST00000538539.1_Missense_Mutation_p.A667S|NCOA1_ENST00000348332.3_Missense_Mutation_p.A667S|NCOA1_ENST00000288599.5_Missense_Mutation_p.A667S|NCOA1_ENST00000407230.1_Missense_Mutation_p.A516S|NCOA1_ENST00000406961.1_Missense_Mutation_p.A667S|NCOA1_ENST00000395856.3_Missense_Mutation_p.A667S Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 667 Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCAACTCTGCCTCTGCTAA 0.493000 T PAX3 alveolar rhadomyosarcoma 8 83 0.00621372 0.00691761 0.058154 1 0 IMPDH2 3615 broad.mit.edu 37 3 49065198 49065198 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:49065198G>A ENST00000326739.4 - 5 515 c.476C>T c.(475-477)tCc>tTc p.S159F NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 159 CBS 1. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) GTCCCTGGAGGAGATGATGCC 0.562000 12 55 0 0 0.146539 0 0 UPRT 139596 broad.mit.edu 37 X 74513312 74513312 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:74513312C>A ENST00000373379.1 + 2 557 c.392C>A c.(391-393)gCc>gAc p.A131D UPRT_ENST00000530743.1_5'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.A131D|UPRT_ENST00000531704.1_3'UTR Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 131 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 TTTAGGACAGCCAGTAGAGGT 0.343000 4 75 0.0215528 0.0228347 0.021553 1 0 SORL1 6653 broad.mit.edu 37 11 121448005 121448005 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:121448005G>T ENST00000260197.7 + 25 3605 c.3476G>T c.(3475-3477)cGg>cTg p.R1159L SORL1_ENST00000525532.1_Missense_Mutation_p.R103L|SORL1_ENST00000534286.1_Missense_Mutation_p.R69L|SORL1_ENST00000532694.1_Missense_Mutation_p.R5L NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1159 LDL-receptor class A 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CACCAGTGCCGGAGTGACGAG 0.512000 7 65 0.0293803 0.0307845 0.029380 1 0 TACR3 6870 broad.mit.edu 37 4 104640715 104640715 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:104640715C>A ENST00000304883.2 - 1 258 c.118G>T c.(118-120)Ggg>Tgg p.G40W NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 40 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGCAGCCACCCAGTCTCAACT 0.692000 6 27 0.000274275 0.000332632 0.047766 1 0 MAP7 9053 broad.mit.edu 37 6 136687027 136687027 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:136687027C>G ENST00000354570.3 - 10 1529 c.1119G>C c.(1117-1119)aaG>aaC p.K373N MAP7_ENST00000544465.1_Missense_Mutation_p.K358N|MAP7_ENST00000438100.2_Missense_Mutation_p.K358N|MAP7_ENST00000454590.1_Missense_Mutation_p.K395N|MAP7_ENST00000432797.2_Missense_Mutation_p.K227N NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 373 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGACTTCCCTCTTGACAGGGC 0.577000 7 27 0 0 0.038147 0 0 GRID2 2895 broad.mit.edu 37 4 94436475 94436475 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:94436475C>A ENST00000282020.4 + 13 2364 c.2106C>A c.(2104-2106)gaC>gaA p.D702E GRID2_ENST00000510992.1_Missense_Mutation_p.D607E NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 702 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTGAGAGGGACAGCATGTATT 0.483000 4 37 0.014758 0.0158121 0.014758 1 0 MSANTD1 345222 broad.mit.edu 37 4 3254982 3254982 + Silent SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:3254982C>G ENST00000438480.2 + 2 2116 c.369C>G c.(367-369)ccC>ccG p.P123P MSANTD1_ENST00000510580.1_Silent_p.P123P|MSANTD1_ENST00000507492.1_Silent_p.P110P NM_001042690.1 NP_001036155.1 Q6ZTZ1 CD044_HUMAN Myb/SANT-like DNA-binding domain containing 1 123 endometrium(1)|lung(2) 3 CCGACTGGCCCTATTACCTAG 0.602000 4 22 0 0 0.058154 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098968 178098968 + Missense_Mutation SNP T T C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:178098968T>C ENST00000397062.3 - 2 631 c.77A>G c.(76-78)cAa>cGa p.Q26R NFE2L2_ENST00000464747.1_Missense_Mutation_p.Q10R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.Q10R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.Q10R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Q10R NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 26 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q26P(1)|p.Q26L(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ATCTATATCTTGCCTCCAAAG 0.348000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 5 28 0 0 0.021553 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63920452 63920452 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:63920452G>A ENST00000337537.3 - 3 911 c.309C>T c.(307-309)agC>agT p.S103S PPP2R5E_ENST00000555899.1_Silent_p.S103S|PPP2R5E_ENST00000422769.2_Silent_p.S27S|PPP2R5E_ENST00000553266.1_Intron NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 103 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) AACAGCCTCTGCTTATTGTAA 0.408000 14 100 0 0 0.033300 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 7 0.004672 0.00528381 0.115264 1 0 SNX30 401548 broad.mit.edu 37 9 115598637 115598637 + Silent SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:115598637C>G ENST00000374232.3 + 5 926 c.762C>G c.(760-762)ctC>ctG p.L254L NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 254 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CATTTGCACTCAAACTGGGAA 0.507000 5 229 0 0 0.014758 0 0 LAMA3 3909 broad.mit.edu 37 18 21474312 21474312 + Splice_Site SNP G G C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:21474312G>C ENST00000313654.9 + 43 5702 c.5461_splice c.e43+1 p.D1821_splice LAMA3_ENST00000587184.1_Splice_Site_p.D212_splice|LAMA3_ENST00000269217.6_Splice_Site_p.D212_splice|LAMA3_ENST00000399516.3_Splice_Site_p.D1821_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1821 Domain III A.|Laminin EGF-like 15; truncated. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAATGTGATGGTGAGAAAAG 0.418000 17 117 0 0 0.055883 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229097 90229097 + RNA SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:90229097G>A ENST00000390278.2 + 0 53 AGCTCCTGGGGCTCCTGCTGC 0.537000 5 74 0 0 0.047766 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337402 22337402 + RNA SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:22337402C>A ENST00000390436.2 + 0 216 AGGACCTCAGCTTATTATAGA 0.428000 6 268 8.12818e-05 0.000101602 0.029380 1 0 PDAP1 11333 broad.mit.edu 37 7 98995504 98995504 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:98995504C>G ENST00000350498.3 - 5 748 c.468G>C c.(466-468)aaG>aaC p.K156N PDAP1_ENST00000496335.1_5'UTR NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 156 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) CCTCTTCCTTCTTCCGGGCAG 0.612000 7 54 0 0 0.029380 0 0 SAGE1 55511 broad.mit.edu 37 X 134990727 134990727 + Silent SNP T T A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:134990727T>A ENST00000535938.1 + 12 1559 c.1392T>A c.(1390-1392)ctT>ctA p.L464L SAGE1_ENST00000324447.3_Silent_p.L464L|SAGE1_ENST00000370709.3_Silent_p.L464L|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 464 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TATCCGGGCTTATTAATATGG 0.418000 11 63 0 0 0.038395 0 0 MLLT6 4302 broad.mit.edu 37 17 36873842 36873842 + Silent SNP T T G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:36873842T>G ENST00000325718.7 + 11 1900 c.1809T>G c.(1807-1809)tcT>tcG p.S603S CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 603 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TCCCCTCCTCTTCTGCTTCTA 0.667000 T MLL AL 4 39 0 0 0.014758 0 0 KCNC3 3748 broad.mit.edu 37 19 50826952 50826952 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:50826952G>A ENST00000376959.2 - 2 1421 c.1258C>T c.(1258-1260)Cgc>Tgc p.R420C KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R420C Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 420 R -> H (in SCA13; loss of channel activity). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity p.R420C(1) endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CGCAGGATGCGGACGAAGCGG 0.652000 3 19 0 0 0.115264 0 0 C9orf106 414318 broad.mit.edu 37 9 132084838 132084838 + RNA SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:132084838C>T ENST00000316786.1 + 0 799 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) AGGCACTGCCCAGAGCTCCTA 0.552000 6 17 0 0 0.038147 0 0 SEC24C 9632 broad.mit.edu 37 10 75526299 75526299 + Splice_Site SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:75526299G>T ENST00000339365.2 + 13 1961 c.1799_splice c.e13+1 p.S600_splice SEC24C_ENST00000411652.2_Splice_Site_p.S481_splice|SEC24C_ENST00000345254.4_Splice_Site_p.S600_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000535742.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 600 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTTATCACCAGGTAAGAGCCA 0.512000 6 97 0.0215528 0.0228347 0.021553 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455171 84455171 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:84455171C>A ENST00000377084.2 - 1 1357 c.472G>T c.(472-474)Gtg>Ttg p.V158L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 158 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AAAATGAGCACCTCCAGCTTG 0.498000 7 65 0.000157383 0.000194174 0.038147 1 0 ZNF678 339500 broad.mit.edu 37 1 227842544 227842544 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:227842544G>A ENST00000343776.4 + 4 938 c.593G>A c.(592-594)aGc>aAc p.S198N ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.S253N F5GXA7 F5GXA7_HUMAN zinc finger protein 678 253 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CAACTAACTAGCCATAAGAAA 0.363000 5 228 0 0 0.021553 0 0 OR4M2 390538 broad.mit.edu 37 15 22369034 22369034 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:22369034C>T ENST00000332663.2 + 1 557 c.459C>T c.(457-459)ttC>ttT p.F153F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGGGGGGCTTCATTCATTCTA 0.502000 6 201 0 0 0.029380 0 0 PRKCB 5579 broad.mit.edu 37 16 24135199 24135199 + Missense_Mutation SNP C C T rs139055681 byFrequency TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:24135199C>T ENST00000303531.7 + 9 1114 c.962C>T c.(961-963)aCg>aTg p.T321M PRKCB_ENST00000321728.7_Missense_Mutation_p.T321M NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 321 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAGAAAAGACGACCAACACT 0.483000 24 158 0 0 0.116897 0 0 OR2M2 391194 broad.mit.edu 37 1 248343745 248343745 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:248343745C>G ENST00000359682.2 + 1 458 c.458C>G c.(457-459)tCt>tGt p.S153C NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATCCTGGGCTCTACAGATGGA 0.433000 6 100 0 0 0.021553 0 0 GAB3 139716 broad.mit.edu 37 X 153925479 153925479 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:153925479G>A ENST00000369575.3 - 7 1383 c.1352C>T c.(1351-1353)cCt>cTt p.P451L GAB3_ENST00000424127.2_Missense_Mutation_p.P452L|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 451 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTCCAGAGGAGGTGGCCGTGC 0.502000 6 81 0 0 0.021553 0 0 HK2 3099 broad.mit.edu 37 2 75094768 75094768 + Nonsense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:75094768G>T ENST00000290573.2 + 3 832 c.232G>T c.(232-234)Gga>Tga p.G78* HK2_ENST00000409174.1_Nonsense_Mutation_p.G50* NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 78 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.G78*(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 TGCAGAACACGGAGAGTTCCT 0.483000 12 438 1.08611e-07 1.50262e-07 0.080935 1 0 APBB3 10307 broad.mit.edu 37 5 139941222 139941222 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:139941222C>T ENST00000357560.4 - 8 1140 c.697G>A c.(697-699)Gat>Aat p.D233N APBB3_ENST00000356738.2_Missense_Mutation_p.D238N|APBB3_ENST00000511201.2_Missense_Mutation_p.D231N|APBB3_ENST00000358580.5_Missense_Mutation_p.D233N|APBB3_ENST00000508496.2_Missense_Mutation_p.D10N|APBB3_ENST00000354402.5_Missense_Mutation_p.D240N|APBB3_ENST00000412920.3_Missense_Mutation_p.D231N NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 233 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGGACATCACAGCAAAAC 0.557000 17 147 0 0 0.033300 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389870 77389870 + Missense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:77389870G>T ENST00000282849.5 - 9 1845 c.1427C>A c.(1426-1428)tCc>tAc p.S476Y NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 476 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCGGCTGCAGGAAGACCATGA 0.483000 4 61 0.00909568 0.00989416 0.009096 1 0 MECOM 2122 broad.mit.edu 37 3 168833844 168833844 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:168833844C>T ENST00000464456.1 - 7 2452 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K MECOM_ENST00000468789.1_Missense_Mutation_p.E418K|MECOM_ENST00000494292.1_Missense_Mutation_p.E606K|MECOM_ENST00000433243.2_Missense_Mutation_p.E419K|MECOM_ENST00000460814.1_Missense_Mutation_p.E418K|MECOM_ENST00000392736.3_Missense_Mutation_p.E418K|MECOM_ENST00000472280.1_Missense_Mutation_p.E419K|MECOM_ENST00000264674.3_Missense_Mutation_p.E483K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTATCACTTTCAATGTCACTT 0.383000 4 61 0 0 0.009096 0 0 SPATA18 132671 broad.mit.edu 37 4 52944971 52944971 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:52944971C>G ENST00000295213.4 + 8 1465 c.1091C>G c.(1090-1092)tCt>tGt p.S364C SPATA18_ENST00000419395.2_Missense_Mutation_p.S332C NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 364 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TTGACACCATCTTATGTGGGG 0.378000 4 121 0 0 0.014758 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370101 35370101 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:35370101G>A ENST00000373347.1 - 3 1152 c.884C>T c.(883-885)tCc>tTc p.S295F DLGAP3_ENST00000235180.4_Missense_Mutation_p.S295F O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 295 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GTCCCGGTAGGACCCATCTGG 0.642000 7 128 0 0 0.029380 0 0 SPATA18 132671 broad.mit.edu 37 4 52938291 52938291 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:52938291C>T ENST00000295213.4 + 6 1101 c.727C>T c.(727-729)Ctg>Ttg p.L243L SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.L211L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 243 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GATAGCTGTTCTGTCTGCTGA 0.478000 15 146 0 0 0.132662 0 0 CCDC50 152137 broad.mit.edu 37 3 191107310 191107310 + Missense_Mutation SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:191107310G>A ENST00000392455.3 + 10 1418 c.820G>A c.(820-822)Ggt>Agt p.G274S CCDC50_ENST00000392456.3_Missense_Mutation_p.G450S NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 274 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) CATGACAGATGGTGAAGATGC 0.428000 47 252 0 0 0.139131 0 0 SYN1 6853 broad.mit.edu 37 X 47466579 47466579 + Silent SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:47466579C>T ENST00000295987.7 - 2 520 c.396G>A c.(394-396)ggG>ggA p.G132G SYN1_ENST00000340666.4_Silent_p.G132G NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 132 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 GGATCTTTTTCCCTTTGAAGT 0.438000 4 50 0 0 0.014758 0 0 TRPC5 7224 broad.mit.edu 37 X 111095552 111095552 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:111095552A>T ENST00000262839.2 - 5 2269 c.1351T>A c.(1351-1353)Tcc>Acc p.S451T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 451 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATCTTCAGGGAAATAGTTGCC 0.413000 5 64 0 0 0.014758 0 0 LPAR3 23566 broad.mit.edu 37 1 85331432 85331432 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:85331432G>A ENST00000440886.1 - 1 410 c.372C>T c.(370-372)gcC>gcT p.A124A LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.A124A Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 124 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GCCTCTCCACGGCGATAACCA 0.517000 28 305 0 0 0.054565 0 0 C11orf87 399947 broad.mit.edu 37 11 109294724 109294724 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:109294724C>T ENST00000327419.6 + 2 768 c.365C>T c.(364-366)gCc>gTc p.A122V RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 122 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGCAGGCAGGCCCCAACCCAC 0.672000 6 35 0 0 0.038147 0 0 KCNMA1 3778 broad.mit.edu 37 10 78669850 78669850 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:78669850G>A ENST00000286627.5 - 24 3799 c.2847C>T c.(2845-2847)aaC>aaT p.N949N KCNMA1_ENST00000406533.3_Silent_p.N1011N|KCNMA1_ENST00000404857.1_Silent_p.N990N|KCNMA1_ENST00000404771.3_Silent_p.N1007N|KCNMA1_ENST00000354353.5_Silent_p.N1010N|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.N1007N|KCNMA1_ENST00000372440.1_Silent_p.N949N|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.N976N NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1007 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CATTAGTATCGTTCACTAGAA 0.448000 8 27 0 0 0.069234 0 0 TCF20 6942 broad.mit.edu 37 22 42605702 42605702 + Silent SNP G G A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:42605702G>A ENST00000359486.3 - 1 5746 c.5610C>T c.(5608-5610)ggC>ggT p.G1870G TCF20_ENST00000404876.1_Silent_p.G171G|TCF20_ENST00000335626.4_Silent_p.G1870G NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1870 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CATAGAGCCTGCCACAAACCA 0.453000 5 353 0 0 0.014758 0 0 OR4D9 390199 broad.mit.edu 37 11 59282609 59282609 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:59282609C>A ENST00000329328.3 + 1 224 c.224C>A c.(223-225)tCc>tAc p.S75Y NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TGCTTTTCCTCCATCACAGCT 0.458000 22 123 1.10513e-12 1.66647e-12 0.069288 1 0 USP6NL 9712 broad.mit.edu 37 10 11504651 11504651 + Missense_Mutation SNP C C G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:11504651C>G ENST00000379237.1 - 15 2670 c.2276G>C c.(2275-2277)gGc>gCc p.G759A USP6NL_ENST00000277575.5_Missense_Mutation_p.G776A NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 759 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TGGTAAATTGCCACGGCTAGC 0.478000 4 96 0 0 0.009096 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129009 248129009 + Nonsense_Mutation SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:248129009G>T ENST00000366480.3 + 1 475 c.376G>T c.(376-378)Gaa>Taa p.E126* OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGGTGGAACTGAAGCCCTTCT 0.443000 34 272 1.04594e-18 1.61131e-18 0.086207 1 0 NLRC4 58484 broad.mit.edu 37 2 32476460 32476460 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:32476460A>T ENST00000404025.2 - 5 961 c.473T>A c.(472-474)cTg>cAg p.L158Q NLRC4_ENST00000402280.1_Missense_Mutation_p.L158Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.L158Q|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 158 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AAGAGCCTGCAGGAGGCCATT 0.542000 5 38 0 0 0.014758 0 0 RBM5 10181 broad.mit.edu 37 3 50148145 50148145 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:50148145A>T ENST00000347869.3 + 17 1572 c.1397A>T c.(1396-1398)gAa>gTa p.E466V RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 466 Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGTATGATGAATCTTCAGGA 0.398000 6 23 0 0 0.029380 0 0 ZXDA 7789 broad.mit.edu 37 X 57934639 57934639 + Missense_Mutation SNP A A T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:57934639A>T ENST00000358697.4 - 1 2428 c.2216T>A c.(2215-2217)cTt>cAt p.L739H NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 739 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GTTTTCACAAAGGGTGCTCGA 0.498000 4 31 0 0 0.021553 0 0 LINC01141 339505 broad.mit.edu 37 1 20748574 20748574 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:20748574delA ENST00000426428.1 - 0 199 NR_033887.1 tgggtgtggcaagctgacaaa 0.507 2 4 --- --- --- --- LINC01359 101927084 broad.mit.edu 37 1 65447767 65447768 + RNA DEL AC AC - rs35511487 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:65447767_65447768delAC ENST00000447748.1 - 0 1775 AAGTTAAATAacacacacacac 0.431 2 4 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68351258 68351259 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:68351258_68351259insA ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN TAGAGAGAGAGAAAAAAAGTCA 0.431 2 4 --- --- --- --- CLCA2 9635 broad.mit.edu 37 1 86921042 86921043 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:86921042_86921043insC ENST00000370565.4 + 14 2826_2827 c.2664_2665insC c.(2662-2667)atccccfs p.IP888fs NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 888 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CTCTGTTTATTCCCCCCAATTC 0.396 7 210 --- --- --- --- LOC100129620 100129620 broad.mit.edu 37 1 99561542 99561542 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:99561542delT ENST00000425113.1 + 0 370 NR_033940.1 ggttgatggcttttttttttc 0.323 2 4 --- --- --- --- AP4B1 10717 broad.mit.edu 37 1 114442681 114442682 + Frame_Shift_Ins INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:114442681_114442682insA ENST00000369569.1 - 5 1238_1239 c.958_959insT c.(958-960)ctcfs p.L320fs AP4B1_ENST00000369566.3_Frame_Shift_Ins_p.L227fs|AP4B1_ENST00000369567.1_Frame_Shift_Ins_p.L152fs|AP4B1_ENST00000256658.4_Frame_Shift_Ins_p.L320fs|AP4B1-AS1_ENST00000419536.1_RNA NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 320 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGAGTAGGAGCAAAAAAACTTT 0.470 7 425 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142620158 142620159 + RNA INS - - G rs111305414 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:142620158_142620159insG ENST00000426408.1 + 0 457 cctggatcacaaaaagtcctta 0.431 2 4 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143169462 143169463 + RNA INS - - C rs140782144 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:143169462_143169463insC ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.4_ENST00000424474.2_lincRNA CCTGctgaccaccccccactaa 0.515 3 2 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144597567 144597568 + RNA INS - - A rs67984124 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:144597567_144597568insA ENST00000419820.1 + 0 439 TAAAATCTCTTACAGCTATTAT 0.272 5 3 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C rs35292683 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:147092680_147092681insC ENST00000234739.3 + 8 3459_3460 c.2719_2720insC c.(2719-2721)cccfs p.P907fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 907 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TTCCATTAAGTCCCCCCCTGTT 0.619 T """IGH@, IGL@""" B-ALL 9 223 --- --- --- --- FLG-AS1 339400 broad.mit.edu 37 1 152150137 152150138 + RNA INS - - TT TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:152150137_152150138insTT ENST00000593011.1 + 0 296 gtgatgttgagttttttttcat 0.337 2 4 --- --- --- --- RP11-307C12.13 0 broad.mit.edu 37 1 154910321 154910322 + RNA DEL TT TT - rs12045997 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:154910321_154910322delTT ENST00000604546.1 + 0 476_477 TTTTTTGGGGTTTTTTTTGTTT 0.421 2 4 --- --- --- --- SHC1 6464 broad.mit.edu 37 1 154938467 154938468 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:154938467_154938468insG ENST00000448116.2 - 10 1561_1562 c.1341_1342insC c.(1339-1344)ccatccfs p.S448fs SHC1_ENST00000606391.1_Frame_Shift_Ins_p.S248fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.S337fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.S218fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.S338fs|SHC1_ENST00000368445.5_Frame_Shift_Ins_p.S447fs NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 447 CH1.|Pro-rich. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ATAGCAGGATTGGGGGGCCCAG 0.569 11 274 --- --- --- --- RP11-180D21.3 0 broad.mit.edu 37 1 159446352 159446352 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:159446352delT ENST00000412932.1 + 0 380 ggctcctttcttcctggaagg 0.433 2 4 --- --- --- --- RP3-454G6.2 0 broad.mit.edu 37 1 171595185 171595186 + RNA INS - - T rs78900605 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:171595185_171595186insT ENST00000483518.1 + 0 228 GTTAACTATTCTTTTTAGATGC 0.431 5 1 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177458291 177458291 + RNA DEL G G - rs66978685 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:177458291delG ENST00000438575.1 - 0 296 acacaaaattgtcatttttgt 0.308 2 4 --- --- --- --- GM140 100287948 broad.mit.edu 37 1 181207582 181207583 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:181207582_181207583insG ENST00000319701.2 + 0 224 NR_046249.1 CTTTCCAATTTGGGGGATTTTT 0.416 2 4 --- --- --- --- LINC01344 400799 broad.mit.edu 37 1 182264632 182264633 + RNA INS - - AGAGAG rs71124819 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:182264632_182264633insAGAGAG ENST00000449842.1 - 0 410 gaaaaaagaaaagagagaagaa 0.381 4 5 --- --- --- --- GOLT1A 127845 broad.mit.edu 37 1 204170835 204170836 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:204170835_204170836insC ENST00000308302.3 - 3 406_407 c.221_222insG c.(220-222)ggtfs p.G74fs NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 74 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CGATAACCACACCCCCCAGGAG 0.545 14 433 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222403294 222403295 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:222403294_222403295insT ENST00000416510.1 - 0 167 ctatcatattcttttttgtatt 0.342 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222444168 222444169 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:222444168_222444169insT ENST00000416510.1 - 0 167 cattaatcctctttttttgtaa 0.446 2 4 --- --- --- --- RP11-278H7.4 0 broad.mit.edu 37 1 244245399 244245400 + RNA INS - - G rs145212889 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr1:244245399_244245400insG ENST00000441338.1 - 0 74 AAAGTCCTCGTCCTTCTTTCAA 0.559 3 6 --- --- --- --- AC011995.1 0 broad.mit.edu 37 2 2841417 2841420 + RNA DEL CACT CACT - rs72345402 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:2841417_2841420delCACT ENST00000452701.1 - 0 243 CAGACTCACACACTCACTCAGTGA 0.569 2 4 --- --- --- --- AC010145.4 0 broad.mit.edu 37 2 16179757 16179760 + RNA DEL TTCT TTCT - rs146901145 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:16179757_16179760delTTCT ENST00000422415.2 - 0 152 ccttccttccttctttccttcctt 0.353 5 10 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16574606 16574606 + RNA DEL A A - rs34153866 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:16574606delA ENST00000427950.1 + 0 157 AACTCAGCACAAAAAAAGGTT 0.418 6 5 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38730592 38730593 + RNA INS - - AGA rs147557314 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:38730592_38730593insAGA ENST00000417039.1 - 0 294 acaaaagagagagaaggagaaa 0.421 6 3 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52067349 52067349 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:52067349delA ENST00000440698.1 + 0 839 tggtcgctataaaaaaaattt 0.408 4 2 --- --- --- --- RP11-481J13.1 0 broad.mit.edu 37 2 56318960 56318961 + RNA DEL GA GA - rs72402939 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:56318960_56318961delGA ENST00000606639.1 + 0 159 tttgttttttgatttttttttt 0.332 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60110483 60110484 + RNA INS - - GGAGAGCAGGTTCC rs148647260 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:60110483_60110484insGGAGAGCAGGTTCC ENST00000606382.1 - 0 110 CATATTGGAATGGAGAGCAGGT 0.460 4 6 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60177196 60177196 + RNA DEL A A - rs75775662 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:60177196delA ENST00000606382.1 - 0 110 tttctcaaagaaaaaaaaaaa 0.443 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65859718 65859718 + RNA DEL T T - rs35706578 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:65859718delT ENST00000420724.1 - 0 63 AC074391.1_ENST00000377977.3_lincRNA aatttctttcttttttttttg 0.393 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65898676 65898676 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:65898676delA ENST00000377977.3 + 0 862 agcctgagacaaaagccaaca 0.478 2 4 --- --- --- --- AC007040.8 0 broad.mit.edu 37 2 71280399 71280400 + RNA INS - - TAT rs142584374 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:71280399_71280400insTAT ENST00000434990.1 - 0 61 actttctgagatatgaatagca 0.386 2 4 --- --- --- --- AC084193.1 0 broad.mit.edu 37 2 80958022 80958023 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:80958022_80958023insA ENST00000450290.1 - 0 468 gctaaagaactaaaaaatcagg 0.282 2 4 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 112025548 112025549 + RNA DEL AA AA - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:112025548_112025549delAA ENST00000438897.1 + 0 181 ggtttgttagaaagatatttta 0.470 3 4 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145605040 145605041 + RNA INS - - CA rs10628901 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:145605040_145605041insCA ENST00000445791.1 + 0 307 NR_033870.2 TAGGACTTCTTcacacacacac 0.450 3 6 --- --- --- --- AC016682.1 0 broad.mit.edu 37 2 151122538 151122538 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:151122538delT ENST00000437118.1 + 0 260 ttagattaccttcacattttt 0.259 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165150927 165150927 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:165150927delA ENST00000429636.1 - 0 104 aaggtcaattaaaaaaaaaag 0.303 2 4 --- --- --- --- AC009495.2 0 broad.mit.edu 37 2 166657912 166657912 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:166657912delG ENST00000425688.1 + 0 451 AC009495.4_ENST00000428888.1_lincRNA gaagaagtctggggcgaaagg 0.507 2 4 --- --- --- --- AC096649.3 0 broad.mit.edu 37 2 176198622 176198622 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:176198622delG ENST00000438963.1 + 0 247 gaggagaagaggggagaagag 0.438 2 4 --- --- --- --- LOC101927156 101927156 broad.mit.edu 37 2 182005544 182005545 + RNA INS - - T rs34914252 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:182005544_182005545insT ENST00000435411.1 + 0 144 tttgttttttgttttttttttg 0.317 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208194431 208194432 + RNA INS - - A rs149596319 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:208194431_208194432insA ENST00000418850.1 - 0 455 AC007879.5_ENST00000412387.1_RNA gtatggctgtcagtgtttctgg 0.480 4 6 --- --- --- --- AC098820.2 0 broad.mit.edu 37 2 217263176 217263177 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:217263176_217263177insT ENST00000457694.1 - 0 272 TCGAAGTAAGGTTTTTTTAAAC 0.297 3 3 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217760940 217760941 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:217760940_217760941insT ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA TGTGAATGCGGTTTTTTTTCCT 0.431 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217815776 217815777 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:217815776_217815777insT ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA TAGCATTGCTATttttttttaa 0.322 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217839932 217839933 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:217839932_217839933insG ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA attagttttctggggctgccat 0.475 2 4 --- --- --- --- LINC01237 101927289 broad.mit.edu 37 2 242964825 242964826 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr2:242964825_242964826insG ENST00000415434.1 + 0 310 ctggagaccctggggggagctg 0.604 2 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 647194 647195 + RNA INS - - T rs79214683 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:647194_647195insT ENST00000420823.1 + 0 176 gttgcctcatgtttttgatgct 0.371 2 4 --- --- --- --- AC027119.1 0 broad.mit.edu 37 3 6146922 6146925 + RNA DEL TCTT TCTT - rs71625311 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:6146922_6146925delTCTT ENST00000425894.1 + 0 322 tttttctttctctttctttctttc 0.382 3 3 --- --- --- --- LINC00620 285375 broad.mit.edu 37 3 13729726 13729727 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:13729726_13729727insG ENST00000419618.1 + 0 217 LINC00620_ENST00000438915.1_RNA NR_027103.1 GTGAGCTGAGCGGGGGGAGAAG 0.559 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18586112 18586113 + RNA DEL TT TT - rs143067600 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:18586112_18586113delTT ENST00000595865.1 + 0 364 AC144521.1_ENST00000596139.1_RNA|AC144521.1_ENST00000596152.1_RNA|AC144521.1_ENST00000600177.1_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000599762.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000456253.2_RNA TGCGTTGCaatttttttttttt 0.436 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64763854 64763855 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:64763854_64763855insA ENST00000460833.1 + 0 430 ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9-AS2_ENST00000474768.1_RNA caatcaagtggaaaaaaggata 0.361 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64831143 64831144 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:64831143_64831144insC ENST00000474768.1 + 0 573 ADAMTS9-AS2_ENST00000481312.1_RNA tctggaagcttccccagccatc 0.525 2 4 --- --- --- --- RP11-543A18.1 0 broad.mit.edu 37 3 65168852 65168852 + RNA DEL C C - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:65168852delC ENST00000481004.1 + 0 119 tggggtttcaccatgttgccc 0.547 2 4 --- --- --- --- RP11-354H21.1 0 broad.mit.edu 37 3 78090811 78090812 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:78090811_78090812insA ENST00000465795.1 - 0 203 TTAGCCACACCAAAAATGTTTG 0.406 2 4 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82482833 82482833 + RNA DEL A A - rs35183441 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:82482833delA ENST00000470263.1 + 0 654 aaagaaaaagaaaaaaaaaga 0.403 3 4 --- --- --- --- LINC00636 285205 broad.mit.edu 37 3 107638043 107638044 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:107638043_107638044insT ENST00000494231.1 + 0 59 NR_015394.1 GGGATCCCTCAGGGATGACAAA 0.446 2 4 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 118199520 118199520 + RNA DEL C C - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:118199520delC ENST00000482142.1 - 0 232 AGGTGTTGAGCCCCATGAAAT 0.423 2 4 --- --- --- --- MYLK-AS1 100506826 broad.mit.edu 37 3 123315773 123315775 + RNA DEL TCT TCT - rs4048419 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:123315773_123315775delTCT ENST00000470449.1 + 0 246 MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA NR_038266.1 gagatagatgtcttcttcttttt 0.345 3 4 --- --- --- --- LOC100507291 100507291 broad.mit.edu 37 3 139119762 139119763 + RNA INS - - AA rs147505200 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:139119762_139119763insAA ENST00000504670.1 + 0 433 RP11-319G6.1_ENST00000507362.1_RNA|RP11-319G6.1_ENST00000512622.1_RNA|RP11-319G6.1_ENST00000510068.1_RNA|RP11-319G6.1_ENST00000514729.1_RNA|RP11-319G6.1_ENST00000515247.1_RNA ggctccatctcaaaaaaaaaaa 0.446 4 3 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 147070372 147070372 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:147070372delA ENST00000473299.1 - 0 132 ATATCTGAGCAAAAAAAAAAA 0.259 3 3 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151485667 151485668 + RNA INS - - T rs113696738 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:151485667_151485668insT ENST00000483843.2 - 0 499 RP11-454C18.2_ENST00000475855.1_RNA ctactgatccattttttctgta 0.361 4 3 --- --- --- --- RP11-292E2.1 0 broad.mit.edu 37 3 153077155 153077155 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:153077155delA ENST00000498457.1 + 0 133 ccttaagggcaaaaactgtgt 0.378 3 3 --- --- --- --- RP11-290K4.2 0 broad.mit.edu 37 3 157747769 157747769 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:157747769delT ENST00000488999.1 - 0 488 CACAAACAAGTTTATActtcc 0.478 2 4 --- --- --- --- LOC100128164 100128164 broad.mit.edu 37 3 169665167 169665168 + RNA INS - - T rs148209516 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr3:169665167_169665168insT ENST00000483289.2 - 0 2126_2127 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 GTTTCCACACATTTTTTTCCCC 0.386 3 4 --- --- --- --- LINC00955 285492 broad.mit.edu 37 4 3590824 3590825 + Frame_Shift_Del DEL AC AC - rs72442405 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:3590824_3590825delAC ENST00000514422.1 + 3 595_596 c.309_310delAC c.(307-312)agacfs p.RH103fs acatgcacagacacacacacac 0.441 4 4 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15300547 15300547 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:15300547delA ENST00000502344.1 - 0 86 TGGCTAAGGCAATGGTTAAGC 0.383 2 4 --- --- --- --- LINC01088 100505875 broad.mit.edu 37 4 79987924 79987925 + RNA DEL TA TA - rs5001816 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:79987924_79987925delTA ENST00000509088.1 + 0 182 RP11-438E5.1_ENST00000510667.1_RNA NR_038342.1 GAGTGTAGGTTAAAAAAAAAAG 0.366 2 4 --- --- --- --- RP11-742B18.1 0 broad.mit.edu 37 4 88513677 88513678 + RNA INS - - TCAC rs141556372 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:88513677_88513678insTCAC ENST00000506480.1 - 0 322 catgctcaacatcactaatcat 0.347 2 4 --- --- --- --- LOC100507053 100507053 broad.mit.edu 37 4 100178468 100178468 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:100178468delG ENST00000500358.2 + 0 3789 RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000509295.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA NR_037884.1 aagaataccagggaagccagt 0.378 2 4 --- --- --- --- LOC256880 256880 broad.mit.edu 37 4 100912761 100912761 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:100912761delT ENST00000507494.1 + 0 191 RP11-15B17.1_ENST00000501976.2_RNA TCATTATGCCTTTTTTATTTC 0.353 2 4 --- --- --- --- LOC101929595 101929595 broad.mit.edu 37 4 108845248 108845249 + RNA DEL GT GT - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:108845248_108845249delGT ENST00000499098.1 - 0 149 RP11-286E11.1_ENST00000513071.1_RNA AGGCAAAAGGgtgtgtgtgtgt 0.391 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128234080 128234081 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:128234080_128234081insA ENST00000504050.1 - 0 368 attatgagcccaaaaaaaagcc 0.391 2 4 --- --- --- --- RP13-578N3.3 0 broad.mit.edu 37 4 144695558 144695559 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:144695558_144695559insG ENST00000499587.2 + 0 178 acgggggtgcaggggggaaagc 0.614 2 4 --- --- --- --- LOC90768 90768 broad.mit.edu 37 4 182845568 182845568 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:182845568delG ENST00000509012.1 - 0 378 cttgtatgcagggtgaaatct 0.393 2 4 --- --- --- --- LOC90768 90768 broad.mit.edu 37 4 183041310 183041311 + RNA INS - - AG rs142528808 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:183041310_183041311insAG ENST00000509012.1 - 0 149 TAGTCCCTTGAAGAGAGGTTCA 0.431 2 4 --- --- --- --- LOC101928877 101928877 broad.mit.edu 37 4 186023868 186023868 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:186023868delG ENST00000509017.1 + 0 1844 CATATTTGCAGTTTCGAAGGG 0.557 3 4 --- --- --- --- F11-AS1 285441 broad.mit.edu 37 4 187218904 187218905 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:187218904_187218905insC ENST00000505103.1 - 0 153 NR_033900.1 TAGTCTACCCACCCCCCCACAT 0.371 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190812561 190812561 + RNA DEL A A - rs78881180 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr4:190812561delA ENST00000511785.1 - 0 231 ttatgcttttatttttgcaaa 0.303 3 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9871360 9871360 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:9871360delA ENST00000511616.1 - 0 521 RP11-447B18.1_ENST00000508097.1_lincRNA NR_027112.2 AAAGGGCAGGATCACCTCCCC 0.403 2 4 --- --- --- --- RP11-124N3.2 0 broad.mit.edu 37 5 19036632 19036633 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:19036632_19036633insA ENST00000513955.1 - 0 61 RP11-124N3.3_ENST00000504827.1_lincRNA GGGAAGGATTTAAGTTTATAGT 0.292 2 4 --- --- --- --- CTD-2134P3.1 0 broad.mit.edu 37 5 28792169 28792169 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:28792169delT ENST00000504398.1 - 0 294 agggcaaaagttttttttcta 0.373 2 4 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33090079 33090079 + RNA DEL T T - rs112280481 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:33090079delT ENST00000510327.1 - 0 346 actggtgaagttttttttttt 0.423 4 3 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33297969 33297970 + RNA INS - - G rs71598990 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:33297969_33297970insG ENST00000510327.1 - 0 46_47 gactgggcaaagttttatagtc 0.540 4 2 --- --- --- --- RP11-357F12.1 0 broad.mit.edu 37 5 45063537 45063537 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:45063537delA ENST00000506656.1 + 0 78 ggtgatggataagctaattac 0.308 2 4 --- --- --- --- CTC-347C20.1 0 broad.mit.edu 37 5 72050280 72050281 + RNA INS - - A rs35402754 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:72050280_72050281insA ENST00000513767.3 - 0 51 gagttctctagaaaaaaaaaaa 0.396 3 3 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74261420 74261420 + RNA DEL T T - rs33988838 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:74261420delT ENST00000505200.1 - 0 335 gagtctaccctttgagGgcat 0.458 4 2 --- --- --- --- RP11-168A11.1 0 broad.mit.edu 37 5 79243688 79243689 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:79243688_79243689insG ENST00000503167.1 + 0 521 TTTAGGAGGGAGGGGGGGCAGT 0.495 4 6 --- --- --- --- LOC101927280 101927280 broad.mit.edu 37 5 117853092 117853093 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:117853092_117853093insG ENST00000506769.1 - 0 2038 ccatgagatttggggggaacac 0.431 2 4 --- --- --- --- LINC01183 728586 broad.mit.edu 37 5 127254766 127254767 + RNA DEL TG TG - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:127254766_127254767delTG ENST00000514853.2 + 0 591 tgtgtatatatgtgtgtgtgtg 0.366 4 8 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 4 8 --- --- --- --- CTD-2050E21.1 0 broad.mit.edu 37 5 142894875 142894876 + RNA INS - - ACACACAC rs56153368 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:142894875_142894876insACACACAC ENST00000340585.6 - 0 437 TAATTGGGAAAacacacacaca 0.376 2 4 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143105781 143105781 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:143105781delA ENST00000503323.1 + 0 379 tgcaaaaaagaaaaaaaaatt 0.537 3 4 --- --- --- --- CTC-295J13.3 0 broad.mit.edu 37 5 147620183 147620183 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:147620183delA ENST00000513133.1 + 0 77 GTCACCTGTTAAAAAAACTGA 0.338 2 4 --- --- --- --- LOC101927766 101927766 broad.mit.edu 37 5 159259615 159259616 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:159259615_159259616insT ENST00000522627.1 - 0 3691 CAATGAGGCAGTTTGGTCAGAA 0.416 2 4 --- --- --- --- FAM196B 100131897 broad.mit.edu 37 5 169310671 169310672 + Frame_Shift_Ins INS - - G rs138830175 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr5:169310671_169310672insG ENST00000377365.3 - 2 1612_1613 c.231_232insC c.(229-234)cccctafs p.L78fs DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000520908.1_Intron NM_001129891.1 NP_001123363.1 A6NMK8 F196B_HUMAN family with sequence similarity 196, member B 78 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1) 5 AGCGAGTAGGTGGGGGGAAGAT 0.550 2 4 --- --- --- --- RP11-532F6.4 0 broad.mit.edu 37 6 736343 736345 + RNA DEL TTT TTT - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:736343_736345delTTT ENST00000607644.1 + 0 243 TTGttttttgttttttttttttt 0.527 2 4 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19633715 19633716 + RNA DEL AC AC - rs149956944 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:19633715_19633716delAC ENST00000432171.2 - 0 366 acagacacagacacacacacac 0.351 2 4 --- --- --- --- C6orf183 389422 broad.mit.edu 37 6 109527945 109527945 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:109527945delG ENST00000417143.3 + 0 1278 gctaatttttgtatttttagt 0.537 2 4 --- --- --- --- TULP4 56995 broad.mit.edu 37 6 158705551 158705552 + RNA DEL GA GA - rs77284831 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr6:158705551_158705552delGA ENST00000432358.1 + 0 116 cgccgtgaatgagagtcagcTT 0.450 4 3 --- --- --- --- AC004540.5 0 broad.mit.edu 37 7 26506726 26506726 + RNA DEL T T - rs34530363 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:26506726delT ENST00000418758.2 + 0 468 aagcaaagacttttttttttt 0.423 7 3 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34658282 34658282 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:34658282delA ENST00000419766.1 - 0 160 NR_033664.1|NR_033665.1 ATCTTTAGATAAAAGCTCTCT 0.303 4 2 --- --- --- --- LINC01448 101928795 broad.mit.edu 37 7 42727090 42727091 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:42727090_42727091insT ENST00000455947.1 - 0 217 CGTTAGAAATATTTTAGCAAAA 0.401 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89733144 89733144 + RNA DEL T T - rs3066768 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:89733144delT ENST00000478318.2 - 0 424 TCTTCAGTAGTTTTTTTTTTT 0.343 5 1 --- --- --- --- RP11-142A5.1 0 broad.mit.edu 37 7 91011842 91011842 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:91011842delT ENST00000456952.1 - 0 112 gatacatagcttttggtggca 0.383 2 4 --- --- --- --- AC006378.2 0 broad.mit.edu 37 7 93635257 93635257 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:93635257delA ENST00000426634.1 + 0 481 TGCTAGTATCAAATTAGGATA 0.299 2 4 --- --- --- --- GPC2 221914 broad.mit.edu 37 7 99769524 99769525 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:99769524_99769525insG ENST00000292377.2 - 7 1214_1215 c.1047_1048insC c.(1045-1050)ccacccfs p.P350fs GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 350 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCACCGGGTCGGGGGGGCCGC 0.723 2 4 --- --- --- --- LINC01004 100216546 broad.mit.edu 37 7 104618318 104618318 + RNA DEL C C - rs67665940 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:104618318delC ENST00000450686.1 - 0 113 Ctttttttttctttctttttt 0.473 2 4 --- --- --- --- RP11-328J2.1 0 broad.mit.edu 37 7 119393996 119393996 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:119393996delG ENST00000426413.1 - 0 216 GAATGGTGGTGGGGGGAAAGG 0.363 2 4 --- --- --- --- RP11-114L10.2 0 broad.mit.edu 37 7 142588377 142588378 + RNA INS - - CA rs59168085 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr7:142588377_142588378insCA ENST00000438839.1 + 0 99 acaccccataccacacacacac 0.515 7 12 --- --- --- --- RP11-145O15.3 0 broad.mit.edu 37 8 13438510 13438511 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:13438510_13438511insC ENST00000529018.1 - 0 74 ttatcagctttcccccatgtag 0.450 2 4 --- --- --- --- RP11-13N12.2 0 broad.mit.edu 37 8 16521001 16521001 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:16521001delT ENST00000521055.1 + 0 401 aaagaaggtgttttttttttt 0.313 3 4 --- --- --- --- RP11-13N12.1 0 broad.mit.edu 37 8 16726588 16726589 + RNA INS - - G rs116544264 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:16726588_16726589insG ENST00000521411.2 - 0 127 GGCTATTTTGTGGGGGGAAACC 0.421 2 4 --- --- --- --- RP11-13N12.1 0 broad.mit.edu 37 8 16745979 16745979 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:16745979delT ENST00000521411.2 - 0 127 attaactatctttttttctgt 0.328 2 4 --- --- --- --- LOC100507651 100507651 broad.mit.edu 37 8 58138797 58138797 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:58138797delA ENST00000519160.1 + 0 863 NR_038235.1 tgtctgatttaaaaaaaaaaa 0.398 4 6 --- --- --- --- RP11-388G22.1 0 broad.mit.edu 37 8 58561838 58561839 + RNA DEL GT GT - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:58561838_58561839delGT ENST00000520426.1 - 0 273 CCAGGGTGGGgtgtgtgtgtgt 0.470 4 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 65275097 65275098 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:65275097_65275098insA ENST00000521958.1 - 0 218 RP11-32K4.1_ENST00000523191.1_RNA AGAGTATGGAGAAAAATGAGTC 0.351 2 4 --- --- --- --- LINC01592 100505718 broad.mit.edu 37 8 69883872 69883873 + RNA DEL CT CT - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:69883872_69883873delCT ENST00000518540.1 - 0 415 NR_039986.1 CTTTCATTTACTCTCTCTCTCT 0.376 2 4 --- --- --- --- LOC101929709 101929709 broad.mit.edu 37 8 90746061 90746062 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:90746061_90746062insA ENST00000504145.1 - 0 667 atccctacctcaaaaaaatgga 0.327 3 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94463057 94463058 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:94463057_94463058insG ENST00000501400.1 - 0 1133 NR_033858.1 gactggattatgggggtggttt 0.455 3 6 --- --- --- --- KB-1930G5.3 0 broad.mit.edu 37 8 102401285 102401285 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:102401285delA ENST00000518612.1 - 0 157 ATGATGTGAGAACCACTGTGG 0.512 2 4 --- --- --- --- KB-1930G5.4 0 broad.mit.edu 37 8 102463849 102463849 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:102463849delT ENST00000519793.1 - 0 242 TTCTCTGCTGTTTTTCTCTTC 0.333 2 4 --- --- --- --- RP11-369K17.1 0 broad.mit.edu 37 8 121977133 121977134 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr8:121977133_121977134insA ENST00000517739.1 + 0 95 caaggcagcagaaaaaaaggtc 0.525 2 4 --- --- --- --- RP11-384P7.5 0 broad.mit.edu 37 9 33722537 33722538 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:33722537_33722538insG ENST00000449144.1 + 0 1128_1129 GTGAACATGGTggggccgcaca 0.431 OREG0019142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68408397 68408397 + RNA DEL C C - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:68408397delC ENST00000417843.2 - 0 67 tattataacactatagctgtg 0.299 2 4 --- --- --- --- UNQ6494 100129066 broad.mit.edu 37 9 92316699 92316700 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:92316699_92316700insC ENST00000444374.1 + 0 134_135 AGTCCAGCTTGCCCCCCAGGCA 0.569 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109195590 109195591 + RNA DEL GT GT - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:109195590_109195591delGT ENST00000435485.1 + 0 171 gtttgtgtacgtgtgtgtgtgt 0.361 4 7 --- --- --- --- RP11-18B16.2 0 broad.mit.edu 37 9 116420160 116420161 + RNA DEL CA CA - rs71943401 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:116420160_116420161delCA ENST00000428292.1 + 0 273 gtacacattgcacacacacaca 0.416 2 4 --- --- --- --- RP11-343J18.2 0 broad.mit.edu 37 9 128865315 128865315 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:128865315delG ENST00000441473.1 + 0 235 tgagccacccgcccggccATT 0.557 2 4 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134073007 134073008 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr9:134073007_134073008insC ENST00000359428.5 + 29 4270_4271 c.4126_4127insC c.(4126-4128)cccfs p.P1376fs NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs P35658 NU214_HUMAN nucleoporin 214kDa 1376 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAATTTTACTGCCCCCCCGGTG 0.545 T """DEK, SET, ABL1""" """AML, T-ALL""" 8 156 --- --- --- --- RP11-71J2.1 0 broad.mit.edu 37 10 55058208 55058208 + RNA DEL T T - rs34825731 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:55058208delT ENST00000449272.1 - 0 74 aaagaagctctccaatgacct 0.428 3 5 --- --- --- --- HPSE2 60495 broad.mit.edu 37 10 100995502 100995503 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:100995502_100995503insG ENST00000370552.3 - 1 116_117 c.57_58insC c.(55-60)cccgtgfs p.V20fs HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 20 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCTAGGCACGCGGGGGGGCGGG 0.594 8 69 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103906659 103906660 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:103906659_103906660insC ENST00000278070.2 + 9 3949_3950 c.3910_3911insC c.(3910-3912)cccfs p.P1304fs PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCGGAGCAGGACCCCCCCAAAA 0.569 9 165 --- --- --- --- CASC2 255082 broad.mit.edu 37 10 119887516 119887517 + RNA DEL CT CT - rs111323932 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr10:119887516_119887517delCT ENST00000435944.1 + 0 452 CASC2_ENST00000454857.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000414722.1_RNA NR_026939.1 attcaccacgctctctctctct 0.470 4 9 --- --- --- --- LOC101927708 101927708 broad.mit.edu 37 11 3535642 3535642 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:3535642delT ENST00000527970.1 - 0 285 RP13-726E6.1_ENST00000534291.1_lincRNA gtgtttcttattttttttttt 0.358 2 4 --- --- --- --- ZBED5-AS1 729013 broad.mit.edu 37 11 10922791 10922791 + RNA DEL T T - rs34115710 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:10922791delT ENST00000530344.1 + 0 67 CTGCTACTTCTTTTTTTTTTT 0.353 4 3 --- --- --- --- RP11-587D21.4 0 broad.mit.edu 37 11 27819686 27819686 + RNA DEL T T - rs61060130 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:27819686delT ENST00000530663.1 - 0 147 gtgaccatgcttttttttttt 0.443 2 4 --- --- --- --- RP11-574M7.1 0 broad.mit.edu 37 11 50273181 50273181 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:50273181delA ENST00000528459.1 + 0 47 cccaggtatgaagctgacttg 0.358 2 4 --- --- --- --- RP11-727A23.10 0 broad.mit.edu 37 11 83101371 83101372 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:83101371_83101372insG ENST00000530045.1 + 0 537 GGTGAGGGAATGGGGGGAAGAG 0.450 4 5 --- --- --- --- RP11-64D24.2 0 broad.mit.edu 37 11 114126441 114126442 + RNA DEL AA AA - rs112668673 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:114126441_114126442delAA ENST00000544925.1 - 0 56 GACAAGATTTaaaaaaaaaaaa 0.366 3 5 --- --- --- --- LOC100507431 100507431 broad.mit.edu 37 11 130715753 130715754 + RNA DEL AC AC - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr11:130715753_130715754delAC ENST00000533812.2 - 0 1357 acacacaggaacacacacacac 0.366 2 4 --- --- --- --- RP11-1038A11.3 0 broad.mit.edu 37 12 5444875 5444876 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:5444875_5444876insC ENST00000537192.1 + 0 219 aaagctagtttccccccaaact 0.495 4 4 --- --- --- --- LOC101930452 101930452 broad.mit.edu 37 12 9538980 9538981 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:9538980_9538981insC ENST00000567749.1 + 0 2362 tccctcattggccccccaaagt 0.421 2 4 --- --- --- --- RP11-405A12.2 0 broad.mit.edu 37 12 19936739 19936740 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:19936739_19936740insG ENST00000535764.1 + 0 153 ggcgtgtgtgcggggggcgcgg 0.629 2 4 --- --- --- --- RP11-625L16.1 0 broad.mit.edu 37 12 24862235 24862236 + RNA INS - - A rs147060691 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:24862235_24862236insA ENST00000536131.1 + 0 192 aaagaacacacaaaaaacccca 0.416 5 5 --- --- --- --- RP11-1060J15.4 0 broad.mit.edu 37 12 27857675 27857675 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:27857675delT ENST00000536317.1 - 0 354 RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.7_ENST00000538640.1_lincRNA ACTCACCATGTTTTTTTTTCA 0.274 2 4 --- --- --- --- RP11-946L16.1 0 broad.mit.edu 37 12 29298545 29298546 + RNA INS - - G rs11430679 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:29298545_29298546insG ENST00000553075.1 - 0 140 gcagggggcatggggggggtgg 0.589 3 4 --- --- --- --- RP11-630C16.2 0 broad.mit.edu 37 12 42273209 42273209 + RNA DEL C C - rs35336592 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:42273209delC ENST00000550874.1 - 0 471 gggggaactgcccccatgatc 0.453 2 4 --- --- --- --- RP11-630C16.2 0 broad.mit.edu 37 12 42308537 42308538 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:42308537_42308538insA ENST00000550874.1 - 0 471 gctgtgtccccacccaaatctc 0.465 2 4 --- --- --- --- FLJ12825 440101 broad.mit.edu 37 12 54497545 54497546 + RNA INS - - T rs144888465 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:54497545_54497546insT ENST00000515617.1 + 0 311 NR_026655.1 ctgttctcttctgaatgccctt 0.525 7 2 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 12 351 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56531341 56531342 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:56531341_56531342insG ENST00000394048.5 + 18 2261_2262 c.1997_1998insG c.(1996-1998)tggfs p.W666fs ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 666 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GACCGTTTCTTGGGGGGACTGG 0.550 7 331 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67311728 67311729 + RNA DEL AC AC - rs72539115 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:67311728_67311729delAC ENST00000535721.1 - 0 113 agatgtataaacacacacacac 0.411 5 1 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89524722 89524723 + RNA DEL CA CA - rs111330847 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:89524722_89524723delCA ENST00000549278.1 - 0 144 TACATGCCAGcacacacacaca 0.406 2 4 --- --- --- --- RP11-554D14.6 0 broad.mit.edu 37 12 108240572 108240573 + RNA DEL GA GA - rs35520530 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:108240572_108240573delGA ENST00000547452.1 - 0 326 gacagagagggagagagagaga 0.520 2 4 --- --- --- --- RP4-601P9.2 0 broad.mit.edu 37 12 115198533 115198534 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:115198533_115198534insG ENST00000551875.1 + 0 656 GGCATCTCTCTGGGGGCTGCTT 0.505 2 4 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124577498 124577499 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:124577498_124577499insG ENST00000540762.1 + 0 247 atggtgatggtgtgatgatggt 0.446 3 4 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124755971 124755972 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr12:124755971_124755972insT ENST00000540762.1 + 0 444 cttcttcttccttttttttttg 0.500 2 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34053851 34053852 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:34053851_34053852insG ENST00000454681.2 - 0 226 gactggatcttgggggtggatt 0.450 2 4 --- --- --- --- LINC00444 100874174 broad.mit.edu 37 13 48480160 48480161 + RNA INS - - T rs144872979 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:48480160_48480161insT ENST00000435617.1 - 0 145 AATTAGAATGATTATTGTATCA 0.361 4 2 --- --- --- --- RNASEH2B-AS1 100874255 broad.mit.edu 37 13 51460896 51460896 + RNA DEL A A - rs111619110 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:51460896delA ENST00000596992.1 - 0 382 RNASEH2B-AS1_ENST00000601286.1_RNA|RNASEH2B-AS1_ENST00000454605.1_RNA|RNASEH2B-AS1_ENST00000593369.1_RNA|RNASEH2B-AS1_ENST00000593750.1_RNA|RNASEH2B-AS1_ENST00000594244.1_RNA tctactaattaaaaaaaaaga 0.313 3 3 --- --- --- --- LINC00355 144766 broad.mit.edu 37 13 64599743 64599743 + RNA DEL T T - rs112254683 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:64599743delT ENST00000456627.1 - 0 961 tcaagttacctattaaggcag 0.502 5 1 --- --- --- --- MIR4500HG 642345 broad.mit.edu 37 13 88256360 88256361 + RNA INS - - AC rs141443067 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:88256360_88256361insAC ENST00000436290.2 - 0 128 NR_033829.1 cacacacagggacacacacaca 0.470 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101523944 101523945 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr13:101523944_101523945insC ENST00000457843.1 + 0 141 NR_047687.1 cactgccaacgccccccaccac 0.411 2 4 --- --- --- --- RP11-146E13.4 0 broad.mit.edu 37 14 19819748 19819749 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:19819748_19819749insC ENST00000548109.1 + 0 72 GTGCCTAGGTGCCCACCGGGGG 0.540 2 4 --- --- --- --- CTD-2058B24.2 0 broad.mit.edu 37 14 38531809 38531810 + RNA DEL AG AG - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:38531809_38531810delAG ENST00000554687.1 - 0 200 CTD-2058B24.2_ENST00000555342.1_RNA ggcagcaggcagagagagagag 0.450 2 4 --- --- --- --- LINC00639 283547 broad.mit.edu 37 14 39412357 39412359 + RNA DEL AGA AGA - rs35539083 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:39412357_39412359delAGA ENST00000553932.1 - 0 96 AAACAGGTACAGAAGAAGGAGAA 0.404 5 3 --- --- --- --- RP11-930O11.1 0 broad.mit.edu 37 14 56790050 56790051 + RNA INS - - CCT rs142698134 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:56790050_56790051insCCT ENST00000558120.1 + 0 544 GGCTCCTAGCACCTCCACCCCT 0.535 7 2 --- --- --- --- RP11-72M17.1 0 broad.mit.edu 37 14 66737224 66737224 + RNA DEL G G - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:66737224delG ENST00000556874.1 - 0 643 AAAATGACTTGCCAGAAATTA 0.343 2 4 --- --- --- --- CTD-2128A3.2 0 broad.mit.edu 37 14 85974426 85974426 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:85974426delA ENST00000557547.1 - 0 110 aaaacaagttaaaaaaaaaaa 0.348 2 4 --- --- --- --- RP11-1070N10.5 0 broad.mit.edu 37 14 96093537 96093538 + RNA INS - - G rs35059507 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:96093537_96093538insG ENST00000555032.1 + 0 120 GGGCAGGTGCAGGCTAGGTCCT 0.475 6 0 --- --- --- --- RP11-433J8.2 0 broad.mit.edu 37 14 97221532 97221533 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr14:97221532_97221533insC ENST00000556669.1 + 0 188 GATGTCAGGGTCCCCCCGTACA 0.584 4 9 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48283952 48283953 + RNA INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:48283952_48283953insG ENST00000560900.1 + 0 195 CAGCAAGTTTTGGGGGGGACTG 0.465 3 6 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61698152 61698152 + RNA DEL T T - rs144658187 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:61698152delT ENST00000559783.1 - 0 186 ttctacagagtttttgcaata 0.274 2 4 --- --- --- --- NTRK3-AS1 283738 broad.mit.edu 37 15 88812909 88812909 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr15:88812909delA ENST00000569588.1 + 0 1275 NR_038229.1 GTGGACCAGGAAGGACAGACC 0.597 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5405010 5405013 + RNA DEL GAGA GAGA - rs143059617 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:5405010_5405013delGAGA ENST00000569895.1 + 0 304 ATGTGTATATgagagagagagagg 0.485 4 4 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30733909 30733910 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:30733909_30733910insG ENST00000262518.4 + 23 4117_4118 c.3732_3733insG c.(3730-3735)gcggggfs p.AG1244fs SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1244 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCGTGTCAGCAGGGGGGCAGCA 0.614 8 413 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30976302 30976303 + Frame_Shift_Ins INS - - C rs151298063 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:30976302_30976303insC ENST00000262519.8 + 7 1925_1926 c.1239_1240insC c.(1237-1242)ctccccfs p.LP413fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 413 Pro-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 CCTCCTACCTGCCCCCCGAGCC 0.678 7 184 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58901260 58901260 + RNA DEL A A - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:58901260delA ENST00000500117.1 + 0 679 RP11-700H13.1_ENST00000562304.1_lincRNA AGTGAATGACAAAAAAGATAT 0.368 2 4 --- --- --- --- FAM65A 79567 broad.mit.edu 37 16 67576380 67576381 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:67576380_67576381insC ENST00000540839.3 + 14 1971_1972 c.1751_1752insC c.(1750-1752)accfs p.T584fs FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.T568fs|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.T578fs|FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.T584fs|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.T564fs|CTD-2012K14.4_ENST00000564717.1_RNA Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 568 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGTGCTCCAAGCCCCCTCACTC 0.535 7 1006 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80495727 80495727 + RNA DEL T T - rs66844438 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr16:80495727delT ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA acaAGCAGTATTCTTGCCCAC 0.463 3 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:7579470_7579471insG ENST00000420246.2 - 4 348_349 c.216_217insC c.(214-219)cctggcfs p.G73fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 73 Interaction with HRMT1L2.|Interaction with WWOX. V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; 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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """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) 10 632 --- --- --- --- TMEM220-AS1 101101775 broad.mit.edu 37 17 10639487 10639488 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:10639487_10639488insT ENST00000583343.1 + 0 110 CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA GGGTGTGTGGGtttttttgttt 0.431 2 4 --- --- --- --- TMEM220-AS1 101101775 broad.mit.edu 37 17 10639496 10639496 + RNA DEL T T - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:10639496delT ENST00000583343.1 + 0 110 CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA GGtttttttgttttttttttt 0.428 2 4 --- --- --- --- KRT18P55 284085 broad.mit.edu 37 17 26624333 26624334 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:26624333_26624334insA ENST00000577198.1 - 0 524 NR_028334.1 gactccgtctcaaaaaaaacat 0.421 2 4 --- --- --- --- SMURF2P1 0 broad.mit.edu 37 17 28985771 28985772 + RNA INS - - AGGA rs28881798 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:28985771_28985772insAGGA ENST00000578265.1 + 0 377 gagaaagaaagaggaaggaagg 0.520 3 3 --- --- --- --- CTB-91J4.1 0 broad.mit.edu 37 17 34444371 34444372 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr17:34444371_34444372insT ENST00000592460.1 + 0 41 TCTTGCTGCTGTTTTTTTTTCC 0.421 2 4 --- --- --- --- CTD-2015H3.2 0 broad.mit.edu 37 18 1748538 1748538 + RNA DEL A A - rs60739518 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:1748538delA ENST00000580524.1 + 0 408 tccatctcagaaaaaaaaaaa 0.363 4 2 --- --- --- --- RP11-703M24.5 0 broad.mit.edu 37 18 2817830 2817831 + RNA INS - - A rs145089305 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:2817830_2817831insA ENST00000583546.1 - 0 308 ctacaaaaaacaaaaaaaaatt 0.530 3 5 --- --- --- --- RP11-636O21.1 0 broad.mit.edu 37 18 37455012 37455013 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:37455012_37455013insA ENST00000585822.1 - 0 310 TGCTTTCAATGCAGGCCCACCC 0.386 2 4 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 39951161 39951162 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:39951161_39951162insC ENST00000593234.1 + 0 713 NR_046456.1 agattttggtacccccatcatc 0.347 2 4 --- --- --- --- CTIF 9811 broad.mit.edu 37 18 46284307 46284308 + Frame_Shift_Ins INS - - G rs111264927 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:46284307_46284308insG ENST00000256413.3 + 8 897_898 c.602_603insG c.(601-603)cggfs p.R201fs CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 201 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.P153L(1)|p.P201L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CAGAGACCTCCGGGGGGCAACA 0.629 7 67 --- --- --- --- RP11-15F12.1 0 broad.mit.edu 37 18 46563091 46563092 + RNA DEL TG TG - rs112911720 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr18:46563091_46563092delTG ENST00000584252.1 + 0 242 tcagctaatttgtgtgtgtgtg 0.470 2 4 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17081702 17081703 + Splice_Site INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:17081702_17081703insG ENST00000443236.1 - 18 2383_2384 c.2354_splice c.e18+1 p.N785_splice CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 738 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCCGTTACCTGGGGGGGTGCC 0.569 7 30 --- --- --- --- LOC101927210 101927210 broad.mit.edu 37 19 29100811 29100811 + RNA DEL A A - rs35179564 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:29100811delA ENST00000587961.1 + 0 417 AC005394.1_ENST00000585394.1_lincRNA|AC005616.1_ENST00000589999.1_RNA|AC005307.3_ENST00000592347.1_RNA ggttgctgccagctgaggaca 0.498 4 6 --- --- --- --- LOC284395 284395 broad.mit.edu 37 19 29817774 29817774 + RNA DEL C C - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:29817774delC ENST00000582581.1 - 0 2030 NR_040029.1 acctcagcctcccaaatagct 0.502 2 4 --- --- --- --- CTD-2050I18.1 0 broad.mit.edu 37 19 32037917 32037918 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:32037917_32037918insA ENST00000593063.1 + 0 282 cccatctctataaaaaaaatac 0.515 2 4 --- --- --- --- CTC-512J12.4 0 broad.mit.edu 37 19 44917435 44917436 + RNA INS - - TCCG TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:44917435_44917436insTCCG ENST00000588655.1 - 0 488 TTCtccttccttctttccttcc 0.416 2 4 --- --- --- --- NUP62 23636 broad.mit.edu 37 19 50412810 50412811 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:50412810_50412811insC ENST00000596217.1 - 2 2141_2142 c.254_255insG c.(253-255)gacfs p.D85fs IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Frame_Shift_Ins_p.D85fs|NUP62_ENST00000352066.3_Frame_Shift_Ins_p.D85fs|CTC-326K19.6_ENST00000451973.1_3'UTR|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Frame_Shift_Ins_p.D85fs|NUP62_ENST00000422090.2_Frame_Shift_Ins_p.D85fs|NUP62_ENST00000597723.1_Frame_Shift_Ins_p.D85fs P37198 NUP62_HUMAN nucleoporin 62kDa 85 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AAAATCCAGTTCCCCCCGAAGC 0.579 9 170 --- --- --- --- CTB-147C22.9 0 broad.mit.edu 37 19 51497716 51497717 + RNA INS - - G rs144670178 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:51497716_51497717insG ENST00000594512.1 + 0 429 CTATTTTCTAAAGATCCTAGTG 0.441 8 3 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51960886 51960887 + Frame_Shift_Ins INS - - G TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr19:51960886_51960887insG ENST00000321424.3 - 2 627_628 c.561_562insC c.(559-564)cctgatfs p.D188fs SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 188 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGGAGATCATGGGGGGTGTCC 0.649 10 144 --- --- --- --- NCOR1P1 149934 broad.mit.edu 37 20 26088971 26088971 + RNA DEL A A - rs76867961 by1000genomes TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr20:26088971delA ENST00000478176.1 - 0 150 NR_003678.1 CAGTATGCTTAAAAAAAAAGA 0.338 4 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11051168 11051168 + RNA DEL T T - rs59377780 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:11051168delT ENST00000470054.1 - 0 487 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) agaccttttgtttttatttac 0.393 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069158 11069158 + RNA DEL T T - rs57408407 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:11069158delT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gaataatatattaaaaaaaac 0.284 5 5 --- --- --- --- LINC00649 100506334 broad.mit.edu 37 21 35343812 35343815 + RNA DEL ACAC ACAC - rs138324381 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr21:35343812_35343815delACAC ENST00000427447.1 + 0 2944_2947 NR_038883.1 AATCCTGCTAacacacacacacac 0.387 3 4 --- --- --- --- LINC01422 101929539 broad.mit.edu 37 22 27301640 27301640 + RNA DEL A A - rs111657350 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:27301640delA ENST00000438113.1 + 0 92 agtaaaacttaaaaaaaaaaa 0.413 3 4 --- --- --- --- RP11-375H17.1 0 broad.mit.edu 37 22 28116444 28116445 + RNA INS - - A rs34974312 TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:28116444_28116445insA ENST00000417957.1 + 0 84 tcgtctctactaaaaaaaaaaa 0.500 4 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35436359 35436360 + RNA INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chr22:35436359_35436360insC ENST00000448318.4 - 0 686 aagtgacttcacccccccatgc 0.455 4 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22984350 22984351 + RNA INS - - A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:22984350_22984351insA ENST00000455399.1 - 0 82 CTGAAATCCCCAAAAAAACTCA 0.460 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42546190 42546191 + RNA DEL AG AG - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:42546190_42546191delAG ENST00000411879.1 + 0 748 agagaaagaaagagagagagag 0.470 3 6 --- --- --- --- LINC01496 102723426 broad.mit.edu 37 X 51249651 51249651 + RNA DEL C C - TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:51249651delC ENST00000448761.1 - 0 58 GTTACGTCATCCCTCTATTTT 0.343 2 4 --- --- --- --- STARD8 9754 broad.mit.edu 37 X 67943519 67943520 + Frame_Shift_Ins INS - - C TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:67943519_67943520insC ENST00000252336.6 + 12 2983_2984 c.2611_2612insC c.(2611-2613)cccfs p.P871fs STARD8_ENST00000374597.3_Frame_Shift_Ins_p.P871fs|STARD8_ENST00000374599.3_Frame_Shift_Ins_p.P951fs NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 871 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.A874fs*16(2)|p.A954fs*16(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGAGGTGGCAGCCCCCCCAGCT 0.678 2 4 --- --- --- --- RP4-537K23.4 0 broad.mit.edu 37 X 129033172 129033173 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:129033172_129033173insT ENST00000432062.1 - 0 293 agcctgggtcctttttgtgaaa 0.337 2 4 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142461003 142461004 + RNA INS - - T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 639aea7c-5a38-4641-bf0d-90a9ce8e2980 27a976e4-0721-4c0a-94e5-f4ffbc460e54 g.chrX:142461003_142461004insT ENST00000431432.1 + 0 176 AGCACTTTGCATTTGATTTAAT 0.292 2 4 --- --- --- ---