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 DOCK10 55619 broad.mit.edu 37 2 225652092 225652092 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr2:225652092T>A ENST00000409592.3 - 49 5536 c.5423A>T c.(5422-5424)tAc>tTc p.Y1808F DOCK10_ENST00000258390.7_Missense_Mutation_p.Y1814F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1814 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CACACACATGTATAGCTGCTC 0.423000 57 145 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205768182 205768182 + Silent SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:205768182G>T ENST00000367137.3 - 5 1614 c.600C>A c.(598-600)gtC>gtA p.V200V SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 200 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) TCCAGCCAAAGACGACGGCTG 0.607000 19 55 4.35082e-09 4.64366e-09 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31809478 31809478 + Missense_Mutation SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:31809478A>G ENST00000446923.2 + 7 1558 c.1167A>G c.(1165-1167)atA>atG p.I389M ZEB1_ENST00000320985.10_Missense_Mutation_p.I405M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 405 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGTCTCCCATAAGTATCAATT 0.438000 20 53 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219888790 219888790 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr2:219888790A>T ENST00000341552.5 - 15 2625 c.2542T>A c.(2542-2544)Tgg>Agg p.W848R CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R|CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 848 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTGCTTCCAGGAGCTGCCC 0.602000 27 82 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089490 57089490 + Missense_Mutation SNP T T G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr19:57089490T>G ENST00000330619.8 + 6 2379 c.1693T>G c.(1693-1695)Tac>Gac p.Y565D ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAGAAGCCTTACGAATGTAT 0.443000 17 53 0 0 1 0 0 GPR107 0 broad.mit.edu 37 9 132854651 132854651 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr9:132854651G>A ENST00000372406.1 + 9 1361 c.854G>A c.(853-855)cGa>cAa p.R285Q GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 285 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) CATATCCTTCGAAAACGACGG 0.423000 5 84 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140963116 140963116 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:140963116G>A ENST00000253811.6 - 5 609 c.469C>T c.(469-471)Cgg>Tgg p.R157W DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W O60610 DIAP1_HUMAN diaphanous-related formin 1 157 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCATATCCCGCAAGCCTGAC 0.512000 4 131 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183539961 183539961 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:183539961A>T ENST00000413720.1 - 5 762 c.488T>A c.(487-489)gTg>gAg p.V163E NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E|NCF2_ENST00000367535.3_Missense_Mutation_p.V208E NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 208 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TTGATCCACCACAGATGCCAC 0.532000 21 41 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200544 155200544 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr3:155200544T>C ENST00000460012.1 - 23 3538 c.3181A>G c.(3181-3183)Aca>Gca p.T1061A PLCH1_ENST00000340059.7_Missense_Mutation_p.T1099A|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1099 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGATCTTGTGTGGGGTTAACT 0.478000 46 134 0 0 1 0 0 SMIM11 54065 broad.mit.edu 37 21 35757886 35757886 + Silent SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr21:35757886A>G ENST00000399295.2 + 3 493 c.123A>G c.(121-123)aaA>aaG p.K41K SMIM11_ENST00000399292.3_Silent_p.K41K|SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron small integral membrane protein 11 TGGAGGCAAAACAACAAAAAC 0.443000 11 46 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520476 52520476 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr14:52520476T>C ENST00000216286.5 - 5 1249 c.1250A>G c.(1249-1251)aAc>aGc p.N417S NID2_ENST00000541773.1_Missense_Mutation_p.N364S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 417 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GATGCTTCCGTTTTCGGGGTA 0.557000 31 83 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26286730 26286730 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr22:26286730A>T ENST00000335473.7 + 26 4572 c.4322A>T c.(4321-4323)gAc>gTc p.D1441V CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1442V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1441 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGATTGCTGACTTGACCTCT 0.582000 6 20 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39163706 39163706 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:39163706T>A ENST00000359534.3 - 2 582 c.244A>T c.(244-246)Aac>Tac p.N82Y NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 82 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CAGTTCCAGTTGTTGAAGGTC 0.502000 17 19 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847438 47847438 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:47847438T>A ENST00000339488.4 - 3 1175 c.1142A>T c.(1141-1143)tAc>tTc p.Y381F NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 381 SSD. integral to membrane hedgehog receptor activity GGAGAAAATGTAGAAGTAGTT 0.448000 15 26 0 0 1 0 0 TRA2A 29896 broad.mit.edu 37 7 23556149 23556149 + Splice_Site SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr7:23556149T>A ENST00000297071.4 - 3 387 c.e3-2 TRA2A_ENST00000538367.1_Splice_Site|TRA2A_ENST00000474586.1_Splice_Site|TRA2A_ENST00000392502.4_Splice_Site NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 GACCTCGACCTTTGAGAGAAA 0.408000 30 28 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63721228 63721228 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr7:63721228G>C ENST00000421025.1 + 4 452 c.183G>C c.(181-183)aaG>aaC p.K61N ZNF679_ENST00000255746.4_Missense_Mutation_p.K61N NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CTGTCTCTAAGCCAGACTTGA 0.353000 3 54 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230980 147230980 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:147230980A>T ENST00000271348.2 - 2 528 c.367T>A c.(367-369)Tac>Aac p.Y123N GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 123 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) GGGTACTCGTAAGAGCCAGAG 0.607000 27 88 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38338661 38338661 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:38338661T>C ENST00000373023.2 - 19 2461 c.2368A>G c.(2368-2370)Aca>Gca p.T790A INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A|INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373026.1_Missense_Mutation_p.T790A NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 790 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAACACAGTGTATGAATGGGA 0.443000 9 38 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89702352 89702352 + Silent SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr4:89702352T>C ENST00000264344.5 - 11 1629 c.1422A>G c.(1420-1422)aaA>aaG p.K474K FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000508369.1_Silent_p.K148K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.K120K|FAM13A_ENST00000503556.1_Silent_p.K134K NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 474 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GCTCAGAAAGTTTAGTACTGG 0.358000 31 69 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42657359 42657359 + Missense_Mutation SNP T T G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:42657359T>G ENST00000372901.1 + 46 5335 c.5077T>G c.(5077-5079)Tat>Gat p.Y1693D UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.Y1693D Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1693 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AGGCTGTTTTTATTCTCCTCC 0.468000 128 302 0 0 1 0 0 CCT2 10576 broad.mit.edu 37 12 69985925 69985925 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr12:69985925A>T ENST00000543146.2 + 8 1077 c.595A>T c.(595-597)Aca>Tca p.T199S CCT2_ENST00000299300.6_Missense_Mutation_p.T246S|CCT2_ENST00000544368.2_Missense_Mutation_p.T246S NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 246 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TGGTATGGATACAGACAAAAT 0.333000 24 45 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95070306 95070306 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:95070306T>A ENST00000371501.4 - 52 6106 c.5984A>T c.(5983-5985)aAg>aTg p.K1995M MYOF_ENST00000359263.4_Missense_Mutation_p.K1995M|MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M Q9NZM1 MYOF_HUMAN myoferlin 1995 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TAAGTCCAGCTTGGGGTTCAT 0.562000 19 56 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266100 41266100 + Missense_Mutation SNP T T G rs121913416 TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr3:41266100T>G ENST00000349496.5 + 3 377 c.97T>G c.(97-99)Tct>Gct p.S33A CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 33 Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TTACCTGGACTCTGGAATCCA 0.488000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 3 39 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95043126 95043126 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr9:95043126T>C ENST00000375643.3 - 7 913 c.647A>G c.(646-648)gAa>gGa p.E216G IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E216G|IARS_ENST00000447699.2_Missense_Mutation_p.E106G NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 216 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AGATACAGTTTCATCTTCTTC 0.353000 10 25 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167289254 167289254 + Nonsense_Mutation SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr2:167289254G>T ENST00000409855.1 - 15 2292 c.2166C>A c.(2164-2166)taC>taA p.Y722* NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 722 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CCAGAAACAGGTAAAGTACCT 0.328000 4 12 0.00909568 0.00926257 1 1 0 ARHGEF10L 55160 broad.mit.edu 37 1 17914091 17914091 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:17914091G>C ENST00000361221.3 + 3 333 c.174G>C c.(172-174)gaG>gaC p.E58D ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 58 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TTGCTCCTGAGAGGGACACAG 0.587000 78 211 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157081347 157081347 + Missense_Mutation SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr3:157081347A>G ENST00000362010.2 - 9 1848 c.1541T>C c.(1540-1542)aTa>aCa p.I514T RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 514 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GTCTATATGTATAATATTTGG 0.413000 31 76 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23419974 23419974 + Missense_Mutation SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:23419974G>T ENST00000302291.4 - 4 1582 c.781C>A c.(781-783)Ctg>Atg p.L261M LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M|LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M Q86V48 LUZP1_HUMAN leucine zipper protein 1 261 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) AGGTAGTCCAGACCACCCTTC 0.408000 19 38 7.41877e-09 7.76872e-09 1 1 0 ZNF98 148198 broad.mit.edu 37 19 22575729 22575729 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr19:22575729T>A ENST00000357774.5 - 4 429 c.308A>T c.(307-309)tAt>tTt p.Y103F NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTTTTGGAAATAATTTTTTTT 0.303000 6 21 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32599590 32599590 + Nonsense_Mutation SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr8:32599590G>T ENST00000341377.5 + 7 1214 c.697G>T c.(697-699)Gaa>Taa p.E233* NRG1_ENST00000287840.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron Q02297 NRG1_HUMAN neuregulin 1 233 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCAAAACCAAGAAAGTATGTC 0.398000 16 29 1.5739e-10 1.69614e-10 1 1 0 CARD6 84674 broad.mit.edu 37 5 40853136 40853136 + Silent SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:40853136C>T ENST00000254691.5 + 3 1901 c.1702C>T c.(1702-1704)Cta>Tta p.L568L CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 568 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ATGGGACTTGCTAATGTTTTT 0.398000 8 129 0 0 1 0 0 TRUB2 26995 broad.mit.edu 37 9 131071863 131071863 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr9:131071863G>C ENST00000372890.4 - 8 1295 c.962C>G c.(961-963)tCt>tGt p.S321C TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 321 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 CCCCAAGGTAGAGCTCGGGCC 0.622000 26 69 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:52595854G>A ENST00000395489.2 - 8 959 c.563C>T c.(562-564)gCg>gTg p.A188V A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 195 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.A203V(2)|p.A195V(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTTCCTCCTCGCCATGGCAGC 0.488000 22 66 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17288741 17288741 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr22:17288741T>C ENST00000331428.5 - 2 325 c.223A>G c.(223-225)Att>Gtt p.I75V NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 75 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCCCCACAATAATAAAGCTG 0.353000 28 48 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956761 16956761 + RNA SNP C C G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:16956761C>G ENST00000412962.1 - 0 294 CCTGGACCTGCCCTGGGGCAG 0.647000 3 14 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44167963 44167963 + Silent SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr20:44167963G>A ENST00000600168.1 - 1 171 c.84C>T c.(82-84)atC>atT p.I28I WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) TACTGCCAAGGATGCCTTCAG 0.478000 6 63 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9013852 9013852 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr12:9013852A>C ENST00000299698.7 + 28 3641 c.3461A>C c.(3460-3462)aAc>aCc p.N1154T A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 998 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GACATCAGAAACATTCTCCTT 0.448000 25 92 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687905 60687905 + Silent SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr2:60687905G>A ENST00000335712.6 - 4 2369 c.2142C>T c.(2140-2142)agC>agT p.S714S BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S680S|BCL11A_ENST00000356842.4_Silent_p.S714S NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 714 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TTCCCGTGCCGCTGCGCCCCG 0.652000 T IGH@ B-CLL 6 98 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 28807502 28807502 + Silent SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chrX:28807502T>A ENST00000378993.1 + 2 715 c.42T>A c.(40-42)acT>acA p.T14T IL1RAPL1_ENST00000302196.4_Silent_p.T14T NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 14 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TATACGCTACTTTTACTCAGA 0.368000 3 34 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87484336 87484336 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:87484336A>T ENST00000327946.7 - 11 1716 c.1631T>A c.(1630-1632)cTa>cAa p.L544Q GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 544 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTTCTTAATTAGAATCCCCAC 0.522000 Multiple Myeloma(13;0.14) 32 44 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681549 100681549 + Missense_Mutation SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr7:100681549A>G ENST00000306151.4 + 3 6916 c.6852A>G c.(6850-6852)atA>atG p.I2284M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2284 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAACAAGTATACCTGTCAGCC 0.463000 160 402 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76497832 76497832 + Missense_Mutation SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:76497832C>T ENST00000585328.1 - 34 5429 c.5305G>A c.(5305-5307)Gtg>Atg p.V1769M DNAH17_ENST00000389840.5_Splice_Site|DNAH17-AS1_ENST00000598378.1_3'UTR NM_173628.3 NP_775899.3 dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCCTTGGCCACGATCATTTTG 0.617000 4 143 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135024207 135024207 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:135024207G>A ENST00000304613.3 + 21 3908 c.3887G>A c.(3886-3888)cGc>cAc p.R1296H KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1296 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.R1296H(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTCCTCGACCGCATCAACAGC 0.622000 4 185 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38684211 38684211 + Missense_Mutation SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr19:38684211C>T ENST00000222345.6 + 18 5140 c.4631C>T c.(4630-4632)tCg>tTg p.S1544L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1544 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGACGCTGTCGGACGAGAGC 0.697000 4 12 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791307 15791307 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr19:15791307A>C ENST00000550308.1 + 5 883 c.503A>C c.(502-504)aAc>aCc p.N168T CYP4F12_ENST00000324632.9_Missense_Mutation_p.N168T NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ACGATCTTCAACAAGAGTGCA 0.532000 12 38 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62751641 62751641 + Missense_Mutation SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr3:62751641G>T ENST00000383710.4 - 2 809 c.460C>A c.(460-462)Cag>Aag p.Q154K CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K|CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 154 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TTGACTGTCTGCAGCTGCTGT 0.468000 33 58 1.30293e-26 1.4179e-26 1 1 0 DHFR 1719 broad.mit.edu 37 5 79933789 79933789 + Silent SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:79933789T>C ENST00000439211.2 - 4 775 c.282A>G c.(280-282)ctA>ctG p.L94L DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000513048.1_Intron NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase 94 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) AGGCATCATCTAGACTTCTGG 0.353000 21 52 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 186 3.59834e-05 3.73285e-05 1 1 0 CXADR 1525 broad.mit.edu 37 21 18924261 18924261 + Silent SNP G G T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr21:18924261G>T ENST00000284878.7 + 3 1153 c.405G>T c.(403-405)ctG>ctT p.L135L CXADR_ENST00000306618.10_Silent_p.L135L|CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000400169.1_Silent_p.L135L NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 135 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) AGATTCATCTGGTAGTTCTTG 0.333000 3 40 0.115264 0.116312 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:47696644A>C ENST00000393331.3 - 6 774 c.304T>G c.(304-306)Ttc>Gtc p.F102V SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAGAATTTGAATTTTGCCCGA 0.408000 Prostate(2;0.17) 30 37 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216246269 216246269 + Missense_Mutation SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:216246269A>G ENST00000366943.2 - 29 6205 c.5819T>C c.(5818-5820)gTa>gCa p.V1940A RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1940A|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1940 Fibronectin type-III 5. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCACTATATACTGAACCTCC 0.368000 HNSCC(13;0.011) 25 60 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31747573 31747573 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:31747573G>C ENST00000375663.3 - 27 3540 c.3100C>G c.(3100-3102)Ctg>Gtg p.L1034V NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1034 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) ACCCCATTCAGTACAGGTTTC 0.622000 5 40 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79770385 79770385 + Splice_Site SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:79770385T>A ENST00000275034.4 - 5 507 c.340_splice c.e5+1 p.S114_splice NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 114 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ATTTTCATACTTTTATTTGTG 0.333000 7 53 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802756 96802756 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:96802756T>C ENST00000371270.3 - 7 1134 c.1040A>G c.(1039-1041)tAc>tGc p.Y347C CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C|CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 347 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGCATCAGTGTAAGGCATGTG 0.498000 31 79 0 0 1 0 0 PCDHA5 0 broad.mit.edu 37 5 140201645 140201645 + Silent SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:140201645C>T ENST00000529859.1 + 1 285 c.285C>T c.(283-285)tgC>tgT p.C95C PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron 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) AGGAGCTGTGCCGGCGGAGGG 0.587000 5 260 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030696 3030696 + Silent SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:3030696A>T ENST00000328890.2 - 1 179 c.150T>A c.(148-150)atT>atA p.I50I NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GAGTGTCAGTAATGATGACTA 0.517000 35 98 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41169988 41169988 + Silent SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr22:41169988T>C ENST00000402844.3 - 4 1463 c.483A>G c.(481-483)acA>acG p.T161T SLC25A17_ENST00000435456.2_Silent_p.T243T|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Silent_p.T170T|SLC25A17_ENST00000544408.1_Silent_p.T206T O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 243 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 GACTTCCCAATGTTCTGTTTT 0.408000 9 42 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53578098 53578098 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chrX:53578098G>A ENST00000342160.3 - 64 9606 c.9149C>T c.(9148-9150)gCc>gTc p.A3050V HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3050 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTCTGAGCTGGCATTCTGTGC 0.552000 3 42 0 0 1 0 0 NT5M 56953 broad.mit.edu 37 17 17250218 17250218 + Missense_Mutation SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:17250218C>T ENST00000389022.4 + 5 860 c.644C>T c.(643-645)gCg>gTg p.A215V NT5M_ENST00000582909.1_3'UTR NM_020201.3 NP_064586.1 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial 215 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 CACTCGTGGGCGGACGACTGG 0.692000 24 57 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186099650 186099650 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:186099650T>C ENST00000271588.4 + 85 13280 c.13051T>C c.(13051-13053)Ttc>Ctc p.F4351L HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4351 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACCTCCAGTCTTCAAAGGTGA 0.393000 20 57 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 48 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15028970 15028970 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chrY:15028970A>T ENST00000336079.3 + 15 1867 c.1761A>T c.(1759-1761)aaA>aaT p.K587N DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 587 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 GACGATCTAAAAGGTACACAC 0.393000 3 3 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15234581 15234581 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:15234581G>C ENST00000395930.1 - 3 508 c.322C>G c.(322-324)Caa>Gaa p.Q108E TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 108 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTGGACTCTTGATAGTTGGTT 0.423000 17 162 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94066494 94066494 + Missense_Mutation SNP G G C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:94066494G>C ENST00000369303.4 - 5 1449 c.1265C>G c.(1264-1266)tCt>tGt p.S422C NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 422 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GCTTAAGTCAGAAACTCCATT 0.433000 14 59 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149502 34149502 + Nonsense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chrX:34149502A>T ENST00000346193.3 - 1 945 c.894T>A c.(892-894)tgT>tgA p.C298* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 298 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGAATTTCCCACAAGGGTATT 0.592000 16 5 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227407 112227407 + Missense_Mutation SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:112227407A>G ENST00000391338.1 + 1 95 c.71A>G c.(70-72)tAc>tGc p.Y24C REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 CACAAAAAGTACAGGGCCGCC 0.512000 7 35 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 28 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479847 4479847 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr12:4479847G>A ENST00000237837.1 - 3 563 c.418C>T c.(418-420)Cgg>Tgg p.R140W NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 140 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.R140W(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CTCTTCGCCCGGCCCAGACTG 0.577000 50 153 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 71 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124266782 124266782 + Missense_Mutation SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr8:124266782C>T ENST00000395571.3 - 3 2022 c.1405G>A c.(1405-1407)Gca>Aca p.A469T ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522655.1_Missense_Mutation_p.A469T|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 469 Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GTCTTTTTTGCCCGAATGCCA 0.388000 4 155 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64403689 64403689 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:64403689T>A ENST00000395251.1 + 2 338 c.4T>A c.(4-6)Tct>Act p.S2T ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T|ZNF365_ENST00000410046.3_Intron NM_199452.3 NP_955524.3 Q70YC4 TALAN_HUMAN zinc finger protein 365 2 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TTAATTAATGTCTGCGCTGGG 0.453000 14 75 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77208864 77208864 + Missense_Mutation SNP C C G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr18:77208864C>G ENST00000253506.5 + 4 1838 c.1469C>G c.(1468-1470)gCc>gGc p.A490G NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G|NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000427363.2_Missense_Mutation_p.A490G NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 490 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGCCCGCACGCCTTCTACCAG 0.612000 31 63 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132860433 132860433 + RNA SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:132860433G>A ENST00000434551.1 + 0 1005 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) GGACTGATTCGTCAACAACTA 0.328000 7 19 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169508849 169508849 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:169508849T>A ENST00000256935.8 + 51 5371 c.5291T>A c.(5290-5292)cTg>cAg p.L1764Q DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1764 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCCAGCCCTGGCGCTCTCA 0.627000 17 43 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 69 0 0 1 0 0 RPS11 6205 broad.mit.edu 37 19 50000530 50000530 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr19:50000530A>C ENST00000270625.2 + 2 178 c.95A>C c.(94-96)aAg>aCg p.K32T RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 32 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) GGCAAGGAGAAGCTCCCGCGG 0.532000 16 63 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606062 13606062 + Missense_Mutation SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr4:13606062C>T ENST00000040738.5 - 10 2597 c.2462G>A c.(2461-2463)cGt>cAt p.R821H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 821 Lys-rich. DNA binding GTTTTCTTTACGAACATTCTC 0.323000 3 18 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111954061 111954061 + Silent SNP C C A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr12:111954061C>A ENST00000377617.3 - 10 1913 c.1752G>T c.(1750-1752)ccG>ccT p.P584P ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000535949.1_Silent_p.P295P|ATXN2_ENST00000550104.1_Silent_p.P584P NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 584 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GCCTGGAGGGCGGCCGTGTAG 0.637000 8 26 0.00448238 0.00460689 1 1 0 SLAMF6 114836 broad.mit.edu 37 1 160466070 160466070 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:160466070A>T ENST00000368059.3 - 2 232 c.163T>A c.(163-165)Tgg>Agg p.W55R SLAMF6_ENST00000368057.3_Missense_Mutation_p.W55R|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 55 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TTGAAAAGCCAAGTGATGAAG 0.463000 59 168 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167489162 167489162 + Silent SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:167489162A>G ENST00000519204.1 + 6 1162 c.1044A>G c.(1042-1044)tcA>tcG p.S348S TENM2_ENST00000545108.1_Silent_p.S469S|TENM2_ENST00000518659.1_Silent_p.S469S|TENM2_ENST00000403607.2_Silent_p.S302S|TENM2_ENST00000520394.1_Silent_p.S237S teneurin transmembrane protein 2 TTTGGAGGTCACAAATTCACA 0.498000 24 61 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109691723 109691723 + Missense_Mutation SNP C C G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr9:109691723C>G ENST00000277225.5 + 3 5819 c.5530C>G c.(5530-5532)Ctc>Gtc p.L1844V ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V|ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V Q96JM2 ZN462_HUMAN zinc finger protein 462 1844 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AATCGAGTGGCTCCCATTCCG 0.522000 33 58 0 0 1 0 0 NXPE1 120400 broad.mit.edu 37 11 114401240 114401240 + Missense_Mutation SNP A A T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr11:114401240A>T ENST00000536312.1 - 6 1382 c.490T>A c.(490-492)Tac>Aac p.Y164N NXPE1_ENST00000251921.2_Missense_Mutation_p.Y22N|NXPE1_ENST00000424269.1_Missense_Mutation_p.Y164N neurexophilin and PC-esterase domain family, member 1 CTGACCAGGTAGGTGCCATTG 0.587000 27 60 0 0 1 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767776 143767776 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:143767776A>C ENST00000419275.1 - 1 105 c.73T>G c.(73-75)Ttt>Gtt p.F25V NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 25 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TTGTCTGCAAACTGTTTGATG 0.478000 81 245 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123256220 123256220 + Missense_Mutation SNP T T C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:123256220T>C ENST00000358487.5 - 13 1961 c.1689A>G c.(1687-1689)atA>atG p.I563M FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 563 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CATACTCAACTATGACATAGA 0.498000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 27 71 0 0 1 0 0 RP11-812E19.9 0 broad.mit.edu 37 16 33647512 33647512 + Silent SNP A A G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr16:33647512A>G ENST00000558425.1 - 2 87 c.88T>C c.(88-90)Ttg>Ctg p.L30L GGCTGTACCAAGCCTCCCCCA 0.567000 7 164 0 0 1 0 0 KCNIP1 0 broad.mit.edu 37 5 170149724 170149724 + Missense_Mutation SNP T T A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr5:170149724T>A ENST00000328939.4 + 5 872 c.335T>A c.(334-336)gTa>gAa p.V112E KCNIP1_ENST00000411494.1_Missense_Mutation_p.V123E|KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 123 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGACTTTGTAACCGCTCTG 0.428000 7 35 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 66 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84140595 84140595 + Splice_Site SNP C C T TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:84140595C>T ENST00000369705.3 - 1 195 c.e1+1 ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TGCGGGTTTACCTTGTTGAGG 0.716000 6 19 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111795980 111795980 + Missense_Mutation SNP G G A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr3:111795980G>A ENST00000452346.2 + 16 2216 c.2213G>A c.(2212-2214)aGa>aAa p.R738K TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 738 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGGGGGCGAAGACACGAAGCA 0.517000 13 52 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 61 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25810628 25810628 + Frame_Shift_Del DEL G G - TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:25810628delG ENST00000374343.4 + 7 1355 c.1176delG c.(1174-1176)aafs p.K392fs TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 392 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) ACATTAAAAAGTTAAAGGCTG 0.542 9 142 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 8 10 --- --- --- --- AC007682.1 0 broad.mit.edu 37 2 51737733 51737734 + RNA INS - - A rs13423125 by1000genomes TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr2:51737733_51737734insA ENST00000440698.1 + 0 694 CTCGGAAAAGGAAAAAAAAAAA 0.490 2 4 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:114292109_114292110insCTG ENST00000398283.2 - 1 249_250 c.245_246insCAG c.(244-246)aag>aCAGag p.82_82K>TE RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGCTCCTCCTCctgctgctgct 0.688 5 2 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786032 123786033 + Frame_Shift_Ins INS - - A TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr6:123786032_123786033insA ENST00000546248.1 - 9 1022_1023 c.889_890insT c.(889-891)ttafs p.L297fs RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000427828.1_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) AGATCTTTAAGAAAAAAAAAAG 0.386 3 6 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 4 8 --- --- --- --- DERL2 51009 broad.mit.edu 37 17 5383387 5383387 + Frame_Shift_Del DEL T T - TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr17:5383387delT ENST00000158771.4 - 6 656 c.601delA c.(601-603)cafs p.T201fs DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000570848.1_3'UTR NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 201 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 ATAGATGGTGTTTTCAGAATT 0.398 28 80 --- --- --- --- CPLX4 339302 broad.mit.edu 37 18 56985676 56985676 + Frame_Shift_Del DEL T T - TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea 84da4992-73f8-4179-bc14-13735496a930 g.chr18:56985676delT ENST00000299721.3 - 1 205 c.19delA c.(19-21)gtfs p.S7fs CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 7 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) CTTATCATACTTTTCATAAGG 0.378 14 34 --- --- --- ---