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 LAMC3 10319 broad.mit.edu 37 9 133920995 133920995 + Silent SNP C C T rs143375693 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:133920995C>T ENST00000361069.4 + 8 1600 c.1467C>T c.(1465-1467)tgC>tgT p.C489C LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 489 Laminin EGF-like 5; first part. cell adhesion basement membrane|membrane structural molecule activity p.C489C(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAAGGTGTGCGCGTCCACTG 0.597000 4 116 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88904043 88904043 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:88904043C>T ENST00000268695.5 - 5 641 c.553G>A c.(553-555)Gag>Aag p.E185K GALNS_ENST00000542788.1_Missense_Mutation_p.E110K NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 185 E -> G (in MPS4A; severe form). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CCAACCATCTCCCAGTCCCTG 0.607000 18 94 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121740413 121740413 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:121740413C>T ENST00000452319.1 + 11 1700 c.1640C>T c.(1639-1641)gCc>gTc p.A547V GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.A547V|GLI2_ENST00000314490.11_Missense_Mutation_p.A219V P10070 GLI2_HUMAN GLI family zinc finger 2 547 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTCTCCAACGCCTCGGACCGC 0.632000 23 89 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895431 42895431 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:42895431T>G ENST00000399770.2 + 1 148 c.148T>G c.(148-150)Tgt>Ggt p.C50G NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 50 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TGCCAGTATCTGTGGGATAGA 0.507000 12 181 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553639 106553639 + Nonsense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:106553639C>G ENST00000369096.4 + 5 1838 c.1604C>G c.(1603-1605)tCa>tGa p.S535* PRDM1_ENST00000369089.3_Nonsense_Mutation_p.S401*|PRDM1_ENST00000369091.2_Nonsense_Mutation_p.S499* NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 535 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AAAGCTACCTCAGCAGCGATG 0.587000 """D, N, Mis, F, S""" DLBCL 22 77 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 102020025 102020025 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:102020025T>C ENST00000354105.4 - 4 325 c.239A>G c.(238-240)tAt>tGt p.Y80C NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 80 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) ATCCTGGAAATATTTTACTGT 0.338000 16 90 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723098 21723098 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:21723098G>A ENST00000399496.3 + 2 185 c.20G>A c.(19-21)aGa>aAa p.R7K CABYR_ENST00000415309.2_Missense_Mutation_p.R7K|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Missense_Mutation_p.R7K|CABYR_ENST00000399499.1_Missense_Mutation_p.R7K NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 7 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCAAAGCCCAGACTTGTCGTA 0.383000 42 84 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598931 153598931 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153598931C>T ENST00000368699.1 - 4 521 c.18G>A c.(16-18)ctG>ctA p.L6L S100A13_ENST00000339556.4_Silent_p.L6L|S100A13_ENST00000392623.1_Silent_p.L6L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Silent_p.L6L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Silent_p.L6L NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 6 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTAGCTCTGTCAGTGGTTCTG 0.557000 38 225 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51128771 51128771 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:51128771G>A ENST00000338916.4 - 6 2086 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W SYT3_ENST00000544769.1_Missense_Mutation_p.R485W|SYT3_ENST00000600079.1_Missense_Mutation_p.R485W|SYT3_ENST00000593901.1_Missense_Mutation_p.R485W NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 485 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GAGGTTTTCCGCTTCTTCAGA 0.577000 8 22 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 4 87 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26789665 26789665 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr13:26789665C>T ENST00000381588.4 - 5 1106 c.354G>A c.(352-354)cgG>cgA p.R118R RNF6_ENST00000346166.3_Silent_p.R118R|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Silent_p.R118R|RNF6_ENST00000468480.1_5'UTR NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 118 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCCTGTGCGCCGAAAGGTGT 0.428000 23 62 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 108 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107602650 107602650 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:107602650G>A ENST00000374736.3 - 9 1358 c.964C>T c.(964-966)Ctc>Ttc p.L322F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 322 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TACCAGTTGAGAGACTTGATC 0.517000 12 72 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999886 45999886 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:45999886G>T ENST00000400372.1 - 1 595 c.570C>A c.(568-570)ccC>ccA p.P190P TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 190 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CAGAGCAGACGGGCACACAGC 0.632000 7 418 0.0293803 0.0299264 1 1 0 POLR3C 10623 broad.mit.edu 37 1 145594178 145594178 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:145594178C>G ENST00000334163.3 - 14 1544 c.1384G>C c.(1384-1386)Gaa>Caa p.E462Q POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 462 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGAGATTTTTCTAGTAGACGC 0.473000 18 86 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362858 55362858 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:55362858G>A ENST00000290552.7 + 5 2300 c.968G>A c.(967-969)gGa>gAa p.G323E RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 323 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GACCCTTCCGGATCGGAAGAA 0.642000 19 80 0 0 1 0 0 GLT8D1 55830 broad.mit.edu 37 3 52729490 52729490 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:52729490C>G ENST00000407584.3 - 9 1609 c.759G>C c.(757-759)tgG>tgC p.W253C GLT8D1_ENST00000394783.3_Missense_Mutation_p.W253C|GLT8D1_ENST00000266014.5_Missense_Mutation_p.W253C|GLT8D1_ENST00000478968.2_Missense_Mutation_p.W253C|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.W253C NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 253 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGTCGTTTCCATTCCGTCA 0.363000 28 90 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788617 3788617 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:3788617C>A ENST00000262367.5 - 26 5146 c.4337G>T c.(4336-4338)cGc>cTc p.R1446L CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1446 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1446H(4)|p.R1446L(3) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AACGGCTGTGCGGAGGCAACG 0.408000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 9 20 4.68919e-08 5.09856e-08 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38406325 38406325 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:38406325G>A ENST00000322350.5 + 7 1156 c.810G>A c.(808-810)ttG>ttA p.L270L EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.L36L|EGFLAM_ENST00000354891.3_Silent_p.L270L NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 270 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTTAGATTTGGATATTTCCT 0.463000 8 75 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721364 183721364 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:183721364G>A ENST00000511685.1 + 28 8083 c.7960G>A c.(7960-7962)Gag>Aag p.E2654K TENM3_ENST00000406950.2_Missense_Mutation_p.E2654K teneurin transmembrane protein 3 GACGGAGGGCGAGAAGCGGCA 0.741000 5 23 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629828 1629828 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:1629828C>T ENST00000381580.1 - 2 380 c.201G>A c.(199-201)atG>atA p.M67I SIRPG_ENST00000381583.2_Missense_Mutation_p.M100I|SIRPG_ENST00000216927.4_Missense_Mutation_p.M100I|SIRPG_ENST00000303415.3_Missense_Mutation_p.M100I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M100I Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 100 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGGAAAAGTCCATGTTGTTTC 0.473000 47 135 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101620744 101620744 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:101620744G>A ENST00000311812.2 - 8 809 c.659C>T c.(658-660)gCg>gTg p.A220V SNX31_ENST00000428383.2_Missense_Mutation_p.A121V NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 220 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAAATCTACCGCCACCCTGCA 0.512000 18 42 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995261 140995261 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:140995261C>T ENST00000285879.4 + 4 2357 c.2071C>T c.(2071-2073)Cct>Tct p.P691S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 691 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCCTGTCTCCTCTCCAAAT 0.567000 HNSCC(15;0.026) 35 104 0 0 1 0 0 HFE 3077 broad.mit.edu 37 6 26093381 26093381 + Silent SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:26093381C>G ENST00000357618.5 + 5 1049 c.927C>G c.(925-927)gtC>gtG p.V309V HFE_ENST00000488199.1_Silent_p.V207V|HFE_ENST00000349999.4_Silent_p.V221V|HFE_ENST00000461397.1_Silent_p.V295V|HFE_ENST00000352392.4_Silent_p.V37V|HFE_ENST00000309234.6_Silent_p.V309V|HFE_ENST00000397022.3_Silent_p.V286V|HFE_ENST00000470149.1_Silent_p.V306V|HFE_ENST00000353147.5_Silent_p.V129V|HFE_ENST00000336625.8_Silent_p.V203V|HFE_ENST00000317896.7_Silent_p.V217V NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 309 antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATTGGAGTCATCAGTGGAA 0.448000 Hemochromatosis 12 69 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17750927 17750927 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:17750927G>A ENST00000377524.3 + 13 1577 c.1362G>A c.(1360-1362)caG>caA p.Q454Q STAM_ENST00000540523.1_Silent_p.Q343Q NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 454 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TTCCTAGTCAGCAGACTCAGG 0.502000 34 143 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52841612 52841612 + Missense_Mutation SNP T T A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:52841612T>A ENST00000375503.3 + 1 385 c.22T>A c.(22-24)Tat>Aat p.Y8N XAGE5_ENST00000351072.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000375501.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000425386.1_Missense_Mutation_p.Y8N Q8WWM1 GAGD5_HUMAN X antigen family, member 5 8 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 AGGAAGAAGATATAGACCAAG 0.458000 56 40 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9453491 9453491 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:9453491G>A ENST00000378501.2 + 33 3384 c.3369G>A c.(3367-3369)aaG>aaA p.K1123K PLCB4_ENST00000278655.4_Silent_p.K1123K|PLCB4_ENST00000414679.2_Silent_p.K1135K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.K1123K|PLCB4_ENST00000334005.3_Silent_p.K1123K|PLCB4_ENST00000378473.3_Silent_p.K1135K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1123 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAGAAAGAAAGAGAGTAAGTA 0.328000 15 82 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47375993 47375993 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:47375993T>C ENST00000285039.7 - 32 4558 c.4259A>G c.(4258-4260)gAg>gGg p.E1420G MYO5B_ENST00000324581.6_Missense_Mutation_p.E535G|MYO5B_ENST00000592688.1_5'UTR|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1420 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GAGCTTCCTCTCATTCTTTTC 0.473000 16 260 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314236 54314236 + Missense_Mutation SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:54314236A>G ENST00000324134.6 - 3 845 c.677T>C c.(676-678)cTg>cCg p.L226P NLRP12_ENST00000351894.4_Missense_Mutation_p.L226P|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226P|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226P|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226P|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226P|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226P|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226P NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 226 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTTGTGTGCCAGCATGGACTT 0.582000 13 78 0 0 1 0 0 NDUFS2 4720 broad.mit.edu 37 1 161172214 161172214 + Silent SNP C C A rs139722814 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:161172214C>A ENST00000392179.4 + 1 278 c.39C>A c.(37-39)gtC>gtA p.V13V NDUFS2_ENST00000367993.3_Silent_p.V13V|NDUFS2_ENST00000476409.2_5'UTR NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 13 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) TCCGGGGCGTCGCGGCCCAGG 0.662000 4 49 0.014758 0.0150884 1 1 0 ZNF346 23567 broad.mit.edu 37 5 176471400 176471400 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:176471400G>T ENST00000503039.1 + 5 462 c.458G>T c.(457-459)aGa>aTa p.R153I ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I|ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000358149.3_Missense_Mutation_p.R128I Q9UL40 ZN346_HUMAN zinc finger protein 346 128 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAGCAGCAGAAGCAAAGAC 0.522000 30 83 9.17885e-22 1.02653e-21 1 1 0 BMI1 648 broad.mit.edu 37 10 22616718 22616718 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:22616718G>A ENST00000376663.3 + 5 818 c.313G>A c.(313-315)Gat>Aat p.D105N COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D248N NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 TCCTTCTGCTGATGGTAAACC 0.358000 20 63 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12243221 12243221 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:12243221C>T ENST00000256194.4 + 10 1525 c.1237C>T c.(1237-1239)Cgt>Tgt p.R413C MICAL2_ENST00000342902.5_Missense_Mutation_p.R413C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R413C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R413C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R413C NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 413 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AGGCTGTGCCCGTGGCTTCCT 0.542000 42 109 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992515 67992515 + Missense_Mutation SNP A A T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:67992515A>T ENST00000397942.3 + 2 927 c.611A>T c.(610-612)cAc>cTc p.H204L SOCS6_ENST00000582322.1_Missense_Mutation_p.H204L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 204 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CTGCATCTTCACCTGGATGAA 0.493000 34 55 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136926387 136926387 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:136926387G>A ENST00000359015.4 - 19 2999 c.2639C>T c.(2638-2640)cCa>cTa p.P880L MAP3K5_ENST00000355845.4_Missense_Mutation_p.P127L NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 880 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTCATAAAATGGGGGTTTTCC 0.413000 22 82 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128199967 128199967 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:128199967G>T ENST00000341105.2 - 6 1669 c.1338C>A c.(1336-1338)ttC>ttA p.F446L GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.F432L|GATA2_ENST00000487848.1_Missense_Mutation_p.F446L NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 446 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CGGAGTGGCTGAAGGGCGGGA 0.657000 Mis AML(CML blast transformation) 14 57 3.41278e-10 3.72551e-10 1 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77323202 77323202 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:77323202C>T ENST00000282849.5 - 22 3927 c.3509G>A c.(3508-3510)cGa>cAa p.R1170Q RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1170 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R1170L(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATTACAGGCTCGTAGCACCGG 0.502000 52 171 0 0 1 0 0 GID4 79018 broad.mit.edu 37 17 17962245 17962245 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:17962245G>A ENST00000268719.4 + 4 843 c.670G>A c.(670-672)Gag>Aag p.E224K NM_024052.4 NP_076957.3 GID complex subunit 4 p.E224*(1) TGATTATGAAGAGCTGAAGAA 0.468000 13 44 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52789600 52789600 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:52789600C>T ENST00000216862.3 - 2 690 c.297G>A c.(295-297)atG>atA p.M99I CYP24A1_ENST00000395955.3_Missense_Mutation_p.M99I NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 99 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) AACCCAACTTCATGCGGAAAA 0.632000 17 95 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45525432 45525432 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:45525432G>A ENST00000221452.8 + 5 776 c.626G>A c.(625-627)aGg>aAg p.R209K RELB_ENST00000505236.1_Missense_Mutation_p.R206K|RELB_ENST00000540120.1_Missense_Mutation_p.R209K NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 209 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GGCATCTGCAGGGTGCGGCTC 0.657000 34 54 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038152 43038152 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:43038152G>A ENST00000267890.6 - 15 3684 c.3576C>T c.(3574-3576)ccC>ccT p.P1192P NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1192 Ser-rich. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGAGTGGCTGGGAGGTGACT 0.597000 18 73 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180659709 180659709 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:180659709G>C ENST00000315073.5 + 3 1670 c.960G>C c.(958-960)ctG>ctC p.L320L TRIM41_ENST00000351937.5_Silent_p.L320L NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 320 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGGGCGACTGACACGGTTTC 0.617000 10 30 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48577056 48577056 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:48577056C>A ENST00000262384.3 - 7 2686 c.2450G>T c.(2449-2451)gGa>gTa p.G817V N4BP1_ENST00000565423.1_5'UTR NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 817 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TGAAGGGGCTCCCTGAATCCG 0.642000 3 24 6.4e-05 6.71877e-05 1 1 0 MYO5C 55930 broad.mit.edu 37 15 52537623 52537623 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:52537623G>A ENST00000261839.7 - 18 2267 c.2106C>T c.(2104-2106)ctC>ctT p.L702L MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 702 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCTTGGTCATGAGAATGCCGT 0.498000 16 100 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140289794 140289794 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:140289794G>A ENST00000340951.4 - 2 211 c.16C>T c.(16-18)Ccc>Tcc p.P6S EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.P6S|EXD3_ENST00000465160.2_Missense_Mutation_p.P6S|EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 6 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 TCACCAGCGGGATCTCCTGGG 0.657000 10 49 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188592259 188592259 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:188592259G>A ENST00000312675.4 + 11 2077 c.1831G>A c.(1831-1833)Gac>Aac p.D611N LPP_ENST00000543006.1_Missense_Mutation_p.D611N NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 611 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GGCGAGCACTGACCTTTAGAT 0.498000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 7 98 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98819267 98819267 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:98819267G>T ENST00000266058.4 - 11 1280 c.1035C>A c.(1033-1035)atC>atA p.I345I SLIT1_ENST00000371041.3_Silent_p.I345I|SLIT1_ENST00000371070.4_Silent_p.I345I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 345 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.I345I(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAATCTCAGCGATCTGATTGT 0.612000 4 68 0.150653 0.152321 1 1 0 DSTYK 25778 broad.mit.edu 37 1 205116748 205116748 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:205116748T>C ENST00000367162.3 - 13 2758 c.2728A>G c.(2728-2730)Atg>Gtg p.M910V DSTYK_ENST00000367161.3_Missense_Mutation_p.M865V|DSTYK_ENST00000367160.4_Missense_Mutation_p.M569V NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 910 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGCCGATTCATGATGCCCTGG 0.498000 85 75 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 102020035 102020035 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:102020035T>G ENST00000354105.4 - 4 315 c.229A>C c.(229-231)Aca>Cca p.T77P NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 77 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) TATTTTACTGTTTCCTGGTTA 0.348000 15 86 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128481 152128481 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152128481G>C ENST00000316073.3 - 3 1158 c.1094C>G c.(1093-1095)tCc>tGc p.S365C NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 365 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTGTAGTGGGAACCCTGGCC 0.473000 192 1599 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:72663998T>G ENST00000425256.1 - 0 902 ATAGCCGGGGTCCTTGAATAC 0.488000 3 61 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2969703 2969703 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:2969703C>T ENST00000396946.4 - 12 1979 c.1576G>A c.(1576-1578)Ggg>Agg p.G526R NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 526 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCTCGTGCCCCTTGGCTGTC 0.602000 Mis DLBCL 11 65 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611673 44611673 + Silent SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:44611673T>C ENST00000273320.3 + 6 1500 c.1071T>C c.(1069-1071)taT>taC p.Y357Y ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.Y357Y|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 ATGACAAATATAAGGAAGTTG 0.383000 26 139 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96498878 96498878 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:96498878C>G ENST00000283109.3 - 10 1614 c.1546G>C c.(1546-1548)Gct>Cct p.A516P CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 516 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CGTCTGACAGCTGATTTTTGC 0.363000 5 42 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52569784 52569784 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:52569784G>A ENST00000389534.4 - 7 1810 c.1351C>T c.(1351-1353)Cat>Tat p.H451Y ZNF841_ENST00000359973.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.H451Y|ZNF432_ENST00000598446.1_Intron NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 TCTCCAGTATGAATTATCTGG 0.408000 8 30 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619153 64619153 + Missense_Mutation SNP A A T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:64619153A>T ENST00000498707.1 - 14 2512 c.2170T>A c.(2170-2172)Tgc>Agc p.C724S ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C696S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 724 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTTACCCGGCAAAGGCCCTGG 0.488000 15 154 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725468 41725468 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:41725468C>T ENST00000400454.1 - 5 1335 c.858G>A c.(856-858)tcG>tcA p.S286S NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 286 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCCTGAGTCCGAGGGGCGAA 0.527000 14 116 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770225 31770225 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:31770225G>C ENST00000240587.4 - 2 801 c.474C>G c.(472-474)agC>agG p.S158R NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 158 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgccacagctgctgctgctgc 0.622000 7 45 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70867962 70867962 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:70867962C>T ENST00000393567.2 - 79 13657 c.13507G>A c.(13507-13509)Gaa>Aaa p.E4503K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4503 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGAACACTTCCTCAGAGAAG 0.557000 15 49 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723370 21723370 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:21723370G>A ENST00000399496.3 + 3 357 c.192G>A c.(190-192)caG>caA p.Q64Q CABYR_ENST00000415309.2_Silent_p.Q64Q|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Silent_p.Q64Q|CABYR_ENST00000399499.1_Silent_p.Q64Q NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 64 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) AATTTCATCAGATTAAAGGTA 0.289000 7 9 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661040 44661040 + Missense_Mutation SNP G G A rs146772061 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:44661040G>A ENST00000426739.2 + 6 1129 c.871G>A c.(871-873)Gat>Aat p.D291N ZNF234_ENST00000592437.1_Missense_Mutation_p.D291N NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) ATTCAAATGTGATACATGTGG 0.423000 31 199 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240447 3240447 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:3240447G>A ENST00000217939.6 - 5 3433 c.3279C>T c.(3277-3279)atC>atT p.I1093I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1093 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGGCAAAGTGATGGATTTGC 0.488000 16 30 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154076507 154076507 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:154076507G>C ENST00000368559.3 - 13 1871 c.1800C>G c.(1798-1800)gtC>gtG p.V600V NUP210L_ENST00000271854.3_Silent_p.V600V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 600 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GAAGAGTAAAGACTCCTTGTT 0.353000 4 109 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3300970 3300970 + Silent SNP C C G rs61735439 byFrequency TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:3300970C>G ENST00000322608.2 - 1 734 c.735G>C c.(733-735)ctG>ctC p.L245L NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 ACACCACAGACAGGTGGGAGC 0.458000 4 107 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412305 63412305 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:63412305C>T ENST00000330258.3 - 2 1134 c.862G>A c.(862-864)Gaa>Aaa p.E288K AMER1_ENST00000403336.1_Missense_Mutation_p.E288K|AMER1_ENST00000374869.3_Missense_Mutation_p.E288K NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TCCCCTGTTTCTGGGCTATGG 0.562000 24 125 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132249921 132249921 + Missense_Mutation SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:132249921A>G ENST00000260818.6 + 55 6853 c.6605A>G c.(6604-6606)cAa>cGa p.Q2202R NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2202 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TCTGAGTCACAAACAGCAGGA 0.423000 25 71 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156085052 156085052 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:156085052G>A ENST00000368300.4 + 1 555 c.343G>A c.(343-345)Gag>Aag p.E115K LMNA_ENST00000368299.3_Missense_Mutation_p.E115K|LMNA_ENST00000361308.4_Missense_Mutation_p.E115K|LMNA_ENST00000347559.2_Missense_Mutation_p.E115K|LMNA_ENST00000368301.2_Missense_Mutation_p.E115K NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 115 Coil 1B.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GGAGTTTAAGGAGCTGAAAGC 0.697000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 12 23 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421180 37421180 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:37421180C>T ENST00000374660.1 + 4 454 c.355C>T c.(355-357)Cca>Tca p.P119S ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P119S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P119S Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 175 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAGCCTCACACCACTTTTACT 0.289000 8 43 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081508 126081508 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:126081508G>C ENST00000298317.4 - 1 79 c.26C>G c.(25-27)tCg>tGg p.S9W RPUSD4_ENST00000533628.1_Missense_Mutation_p.S9W|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 9 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CCAGGGGCCCGACGCGCTCCA 0.642000 35 127 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352121 15352121 + RNA SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:15352121C>T ENST00000344693.5 - 0 637 NR_027270.1 TGTGGATCTTCTGCAGTTCCG 0.637000 4 47 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159038422 159038422 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:159038422G>T ENST00000368130.4 - 3 620 c.332C>A c.(331-333)tCt>tAt p.S111Y AIM2_ENST00000411768.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 111 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) GATGGCTGCAGATGCAGCAGG 0.418000 18 110 5.35267e-07 5.72903e-07 1 1 0 BCL7B 9275 broad.mit.edu 37 7 72954277 72954277 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:72954277G>T ENST00000223368.2 - 4 794 c.371C>A c.(370-372)gCa>gAa p.A124E BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR NM_001707.3 NP_001698.2 Q9BQE9 BCL7B_HUMAN B-cell CLL/lymphoma 7B 124 actin binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 9 Lung NSC(55;0.0659)|all_lung(88;0.152) GGAGGTGTGTGCTGGGCTCAG 0.602000 4 53 0.184627 0.185304 1 1 0 CYP26C1 340665 broad.mit.edu 37 10 94828376 94828376 + Silent SNP C C T rs140502479 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:94828376C>T ENST00000285949.5 + 6 1491 c.1491C>T c.(1489-1491)atC>atT p.I497I NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 497 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CGGTGCCCATCGTGCACCCAG 0.662000 8 16 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723081 21723081 + Translation_Start_Site SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:21723081G>A ENST00000399496.3 + 2 168 c.3G>A c.(1-3)atG>atA p.M1I CABYR_ENST00000415309.2_Start_Codon_SNP_p.M1I|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Start_Codon_SNP_p.M1I|CABYR_ENST00000399499.1_Start_Codon_SNP_p.M1I NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 1 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CTGCCAAAATGATTTCTTCAA 0.363000 39 88 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98645504 98645504 + Splice_Site SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:98645504G>A ENST00000361125.1 - 11 1352 c.1033C>T c.(1033-1035)Cac>Tac p.H345Y SMURF1_ENST00000361368.2_Splice_Site_p.H319Y|AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 345 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGGCACTGGTGACTTGAGAAG 0.602000 40 130 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249711 110249711 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:110249711C>G ENST00000374672.4 - 3 1437 c.964G>C c.(964-966)Gag>Cag p.E322Q NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 322 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 AGCACTTCCTCAAGACCCAGG 0.687000 4 28 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639573 94639573 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:94639573G>A ENST00000260526.6 - 23 3820 c.3638C>T c.(3637-3639)tCa>tTa p.S1213L NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1213 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AGGACAAGCTGATGCTTTGTC 0.537000 28 72 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52756195 52756195 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:52756195C>T ENST00000257901.3 - 7 1213 c.1138G>A c.(1138-1140)Gat>Aat p.D380N KRT85_ENST00000544265.1_Missense_Mutation_p.D168N NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 380 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CAGCGGGCATCGCTGAGGGCC 0.617000 24 87 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34916671 34916671 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:34916671C>T ENST00000304718.4 + 5 803 c.487C>T c.(487-489)Cag>Tag p.Q163* NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 163 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TAAGAGATGTCAGTTGCACTC 0.303000 14 30 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874099 151874099 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:151874099C>G ENST00000355193.2 - 38 8657 c.8439G>C c.(8437-8439)caG>caC p.Q2813H KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2813H lysine (K)-specific methyltransferase 2C TGGATTTTTTCTGTGGTGAAT 0.328000 20 84 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607978 84607978 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:84607978G>C ENST00000344803.2 + 4 2640 c.2593G>C c.(2593-2595)Gag>Cag p.E865Q NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTCTCTTCCTGAGAAATCCCA 0.438000 16 58 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220928391 220928391 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:220928391C>T ENST00000366913.3 + 2 573 c.375C>T c.(373-375)ttC>ttT p.F125F MARC2_ENST00000359316.2_Silent_p.F125F NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 125 mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GCCTGATCTTCAGGGCTCCAG 0.522000 41 146 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41961591 41961591 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:41961591G>A ENST00000298919.7 + 9 1082 c.694G>A c.(694-696)Gaa>Aaa p.E232K PDZRN4_ENST00000402685.2_Missense_Mutation_p.E492K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E234K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 492 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCAGCTGGATGAAGGCTGGCT 0.398000 11 57 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249346 110249346 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:110249346C>G ENST00000374672.4 - 4 1700 c.1227G>C c.(1225-1227)aaG>aaC p.K409N NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 443 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.K409N(1)|p.K400N(1) breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GATGGGAACTCTTTGTGTAGG 0.592000 61 283 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 101981761 101981761 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:101981761C>G ENST00000282441.5 + 1 570 c.182C>G c.(181-183)tCg>tGg p.S61W YAP1_ENST00000345877.2_Missense_Mutation_p.S61W|YAP1_ENST00000531439.1_Missense_Mutation_p.S61W|YAP1_ENST00000526343.1_Missense_Mutation_p.S61W|YAP1_ENST00000537274.1_Missense_Mutation_p.S61W NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 61 cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) CGCGGGGACTCGGAGACCGAC 0.741000 3 25 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21713389 21713389 + Splice_Site SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:21713389A>G ENST00000358491.4 + 3 338 c.e3-1 ZNF429_ENST00000597078.1_Splice_Site|ZNF429_ENST00000594022.1_Splice_Site NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TTAATAAAACAGGTATTGCTG 0.333000 12 52 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971040 118971040 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:118971040C>A ENST00000409993.2 - 6 2126 c.575G>T c.(574-576)gGc>gTc p.G192V DPAGT1_ENST00000354202.4_Missense_Mutation_p.G192V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.G85V Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 192 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGCCTCTAGGCCGTTAATTCC 0.507000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 106 1.67305e-13 1.84845e-13 1 1 0 KPNA5 3841 broad.mit.edu 37 6 117053301 117053301 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:117053301C>G ENST00000368564.1 + 14 1583 c.1435C>G c.(1435-1437)Ctg>Gtg p.L479V KPNA5_ENST00000356348.1_Missense_Mutation_p.L479V O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 476 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TATAACAGGTCTGGATAAAAT 0.244000 13 38 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67522556 67522556 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:67522556G>A ENST00000521381.1 + 2 669 c.53G>A c.(52-54)aGa>aAa p.R18K PIK3R1_ENST00000274335.5_Missense_Mutation_p.R18K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R18K|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R18K NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 18 SH3. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAAAGGAAAGAGAAGAAGAT 0.448000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 30 90 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88039797 88039797 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:88039797C>G ENST00000393207.1 + 6 778 c.557C>G c.(556-558)tCt>tGt p.S186C BANP_ENST00000355022.4_Missense_Mutation_p.S155C|BANP_ENST00000355163.5_Missense_Mutation_p.S161C|BANP_ENST00000286122.7_Missense_Mutation_p.S186C|BANP_ENST00000479780.2_Missense_Mutation_p.S155C|BANP_ENST00000538234.1_Missense_Mutation_p.S194C|BANP_ENST00000393208.2_Missense_Mutation_p.S155C NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 186 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) GCCAGCGACTCTGTGTCCAGC 0.662000 17 131 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619154 64619154 + Silent SNP A A C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:64619154A>C ENST00000498707.1 - 14 2511 c.2169T>G c.(2167-2169)ctT>ctG p.L723L ADAMTS9_ENST00000295903.4_Silent_p.L695L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 723 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTACCCGGCAAAGGCCCTGGA 0.488000 15 156 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307816 46307816 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:46307816G>A ENST00000221538.3 - 3 1489 c.1347C>T c.(1345-1347)atC>atT p.I449I RSPH6A_ENST00000600188.1_Silent_p.I185I|RSPH6A_ENST00000597055.1_Silent_p.I449I NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 449 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGGCGTTCACGATCTGGGCTG 0.622000 30 96 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57935322 57935322 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:57935322C>T ENST00000564448.1 - 29 2952 c.2892G>A c.(2890-2892)atG>atA p.M964I CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 970 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TGTCAAAGATCATCTGCCGGT 0.572000 19 132 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671863 49671863 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:49671863G>A ENST00000561648.1 - 4 1253 c.1200C>T c.(1198-1200)gaC>gaT p.D400D ZNF423_ENST00000262383.2_Silent_p.D400D|ZNF423_ENST00000562871.1_Silent_p.D340D|ZNF423_ENST00000562520.1_Silent_p.D340D|ZNF423_ENST00000563137.2_Silent_p.D340D|ZNF423_ENST00000535559.1_Silent_p.D283D|ZNF423_ENST00000567169.1_Silent_p.D283D NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 400 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGCCCTGCCCGTCATCCCGCA 0.632000 8 67 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062361 76062361 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:76062361G>A ENST00000260045.3 - 5 1938 c.1833C>T c.(1831-1833)gtC>gtT p.V611V NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 611 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 GTTGTCCCATGACTGAGGGTA 0.428000 43 120 0 0 1 0 0 C8orf37 157657 broad.mit.edu 37 8 96275953 96275953 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:96275953C>T ENST00000286688.5 - 2 216 c.205G>A c.(205-207)Gaa>Aaa p.E69K NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 69 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) TCAAGTATTTCATTAATAAGA 0.313000 18 32 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71360261 71360261 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:71360261C>T ENST00000244230.2 + 2 675 c.323C>T c.(322-324)cCa>cTa p.P108L MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.P108L|MPHOSPH10_ENST00000468427.1_3'UTR NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 108 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 AGTCTTCTCCCAGAGAGTGAA 0.408000 9 39 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174253312 174253312 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:174253312C>T ENST00000296503.5 - 5 1422 c.549G>A c.(547-549)aaG>aaA p.K183K HMGB2_ENST00000438704.2_Silent_p.K183K|HMGB2_ENST00000446922.2_Silent_p.K183K P26583 HMGB2_HUMAN high mobility group box 2 183 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) gttcgttcttcttcttTGAGC 0.428000 13 51 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653075 153653075 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153653075G>A ENST00000368680.3 + 2 1292 c.820G>A c.(820-822)Gat>Aat p.D274N NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 274 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTTCCACCTGGATATCTTTGG 0.597000 13 80 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892261 11892261 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:11892261G>A ENST00000357901.4 + 4 1724 c.1622G>A c.(1621-1623)aGg>aAg p.R541K ZNF441_ENST00000454339.2_Missense_Mutation_p.R474K NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAAGGCTTCAGGTCTTCCAGT 0.423000 28 58 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34097869 34097869 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:34097869G>A ENST00000397527.1 + 34 7771 c.7051G>A c.(7051-7053)Gaa>Aaa p.E2351K CEP250_ENST00000342580.4_Missense_Mutation_p.E2295K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2351 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTGTGTGGCTGAACTGCAGAA 0.522000 28 52 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141561491 141561491 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:141561491C>T ENST00000220592.5 - 11 1426 c.1314G>A c.(1312-1314)cgG>cgA p.R438R AGO2_ENST00000519980.1_Silent_p.R438R NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 ACTGCTTGTTCCGCATGTCCC 0.537000 26 144 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162380432 162380432 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:162380432C>G ENST00000306100.5 - 14 2084 c.1648G>C c.(1648-1650)Gac>Cac p.D550H FSTL5_ENST00000427802.2_Missense_Mutation_p.D540H|FSTL5_ENST00000536695.1_Missense_Mutation_p.D549H|FSTL5_ENST00000379164.4_Missense_Mutation_p.D549H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 550 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGTGATTTGTCATAGTGTAAT 0.373000 15 66 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5892002 5892002 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:5892002G>A ENST00000581347.2 - 3 706 c.61C>T c.(61-63)Cca>Tca p.P21S RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P21S A6NKL6 T200C_HUMAN transmembrane protein 200C integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 ATCTGGCTTGGGGGGCGGAGT 0.607000 10 77 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96922768 96922768 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr14:96922768C>T ENST00000267584.4 + 11 1227 c.1183C>T c.(1183-1185)Cac>Tac p.H395Y NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 395 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CAAACTGCATCACATCCAACT 0.393000 29 38 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123062324 123062324 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:123062324G>C ENST00000333479.7 + 31 3004 c.2827G>C c.(2827-2829)Gat>Cat p.D943H KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 943 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AGAAGAGCCAGATCATTCTAA 0.368000 14 50 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671633 92671633 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:92671633G>A ENST00000318445.6 + 7 1640 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.E476K NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 476 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TAATAACTGTGAATGCCAAAC 0.537000 22 127 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50861948 50861948 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:50861948C>T ENST00000359139.3 + 10 1424 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L PPP6R2_ENST00000216061.5_Silent_p.L344L|PPP6R2_ENST00000395744.3_Silent_p.L344L|PPP6R2_ENST00000395741.3_Silent_p.L345L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 344 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GAATGCCCGTCTGCATGGCGC 0.592000 31 64 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53338236 53338236 + Nonsense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:53338236C>A ENST00000607628.1 - 6 704 c.595G>T c.(595-597)Gaa>Taa p.E199* DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Nonsense_Mutation_p.E199* NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 199 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GGCATTTCTTCTAGAGTCTCG 0.428000 9 74 0.000274275 0.000284664 1 1 0 FPR2 2358 broad.mit.edu 37 19 52272667 52272667 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:52272667C>T ENST00000598776.1 + 2 1528 c.756C>T c.(754-756)atC>atT p.I252I FPR2_ENST00000340023.6_Silent_p.I252I|FPR2_ENST00000598953.1_Silent_p.I252I NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 252 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTTTCTTCATCTGTTGGTTTC 0.483000 7 41 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801295 80801295 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:80801295A>G ENST00000466387.1 + 17 2473 c.1749A>G c.(1747-1749)ccA>ccG p.P583P CTNNA2_ENST00000402739.4_Silent_p.P583P|CTNNA2_ENST00000343114.3_Silent_p.P262P|CTNNA2_ENST00000361291.4_Silent_p.P617P|CTNNA2_ENST00000540488.1_Silent_p.P583P|CTNNA2_ENST00000496558.1_Silent_p.P583P|CTNNA2_ENST00000541047.1_Silent_p.P583P P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 583 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAGTGATGCCACGCTTCGCTG 0.498000 18 80 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34098449 34098449 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:34098449C>T ENST00000361264.4 - 5 1009 c.668G>A c.(667-669)aGa>aAa p.R223K NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 223 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CACATTGTGTCTCGCATCACT 0.502000 13 75 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50857359 50857359 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:50857359C>A ENST00000359139.3 + 7 1076 c.682C>A c.(682-684)Cag>Aag p.Q228K PPP6R2_ENST00000216061.5_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q228K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 228 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCAGGGCAGTCAGCTGCAAGA 0.587000 53 90 1.81118e-26 2.03387e-26 1 1 0 RPTN 126638 broad.mit.edu 37 1 152129395 152129395 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152129395G>C ENST00000316073.3 - 3 244 c.180C>G c.(178-180)ctC>ctG p.L60L NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 60 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTTGATCTAAGAGGTTCAAGA 0.413000 29 195 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5760784 5760784 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:5760784C>A ENST00000425013.2 - 9 1577 c.1353G>T c.(1351-1353)aaG>aaT p.K451N RNF216_ENST00000389902.3_Missense_Mutation_p.K508N NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 451 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGAACATCCTCTTTTCTATTT 0.453000 9 79 0.000274275 0.000284664 1 1 0 S100A1 6271 broad.mit.edu 37 1 153604179 153604179 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153604179G>A ENST00000368698.3 + 4 453 c.306G>A c.(304-306)caG>caA p.Q102Q S100A1_ENST00000469893.1_3'UTR|S100A1_ENST00000368696.3_3'UTR|S100A13_ENST00000368699.1_Intron|RP1-178F15.4_ENST00000469931.2_RNA|S100A1_ENST00000292169.1_Silent_p.Q49Q|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA P23297 S10A1_HUMAN S100 calcium binding protein A1 49 intracellular signal transduction|regulation of heart contraction nucleus|protein complex|sarcoplasmic reticulum ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding breast(1)|cervix(1)|lung(2) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Olopatadine(DB00768) CACAGGCCCAGAAGGATGTGG 0.567000 181 443 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52480090 52480090 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:52480090G>T ENST00000219746.9 - 5 1006 c.722C>A c.(721-723)cCc>cAc p.P241H TOX3_ENST00000407228.3_Missense_Mutation_p.P236H NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 241 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TGGAGTCTTGGGCTTCTTGCC 0.448000 6 41 2.0095e-06 2.13412e-06 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777120 18777120 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:18777120C>T ENST00000380548.4 + 19 3232 c.2893C>T c.(2893-2895)Cgc>Tgc p.R965C NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 965 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGGAGGCAACCGCAAGCTCGT 0.647000 9 90 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582797 55582797 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:55582797C>T ENST00000361849.3 - 34 5089 c.4695G>A c.(4693-4695)ctG>ctA p.L1565L PCDH15_ENST00000395430.1_Silent_p.L1560L|PCDH15_ENST00000395432.2_Silent_p.L1523L|PCDH15_ENST00000437009.1_Silent_p.L1494L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Silent_p.L1563L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1540L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1563 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGGGCCCCTCAGAGACTTAC 0.423000 HNSCC(58;0.16) 38 91 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128785 152128785 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152128785G>C ENST00000316073.3 - 3 854 c.790C>G c.(790-792)Caa>Gaa p.Q264E NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 264 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GATTTCTGTTGATTTGTCTGG 0.443000 77 634 0 0 1 0 0 DIABLO 56616 broad.mit.edu 37 12 122710529 122710529 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:122710529G>A ENST00000443649.3 - 2 850 c.33C>T c.(31-33)agC>agT p.S11S DIABLO_ENST00000267169.6_5'UTR|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000413918.1_Silent_p.S11S|DIABLO_ENST00000353548.6_Silent_p.S11S|RP11-512M8.5_ENST00000535844.1_Intron NM_019887.4 NP_063940.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 11 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) ATGAAGTTACGCTGCGCGACA 0.697000 4 13 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45368567 45368567 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:45368567G>A ENST00000252483.5 + 2 128 c.128G>A c.(127-129)cGa>cAa p.R43Q PVRL2_ENST00000252485.4_Missense_Mutation_p.R43Q NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 43 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCCGAGGTGCGAGGCCAGCTC 0.652000 17 95 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512247 127512247 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:127512247G>A ENST00000299130.3 + 1 133 c.121G>A c.(121-123)Gac>Aac p.D41N BCCIP_ENST00000278100.6_Missense_Mutation_p.D41N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D41N|BCCIP_ENST00000368759.5_Missense_Mutation_p.D41N NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 41 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) agacgatgatgacagtgacaa 0.522000 29 53 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29917130 29917130 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:29917130G>A ENST00000308748.5 + 3 1337 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q ASPHD1_ENST00000483405.1_Missense_Mutation_p.R81Q NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 362 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 GATGGGCCTCGAGTGGTCTTC 0.592000 7 61 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128407 152128407 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152128407G>A ENST00000316073.3 - 3 1232 c.1168C>T c.(1168-1170)Cac>Tac p.H390Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 390 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCATAGTGAGAACTCTGA 0.498000 212 1546 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 4 46 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71211889 71211889 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:71211889G>A ENST00000457410.1 + 6 1089 c.950G>A c.(949-951)aGg>aAg p.R317K AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R351K Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 351 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CAGCGTTCCAGGAGCTTCCAC 0.632000 OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0 0 1 0 0 RTP4 64108 broad.mit.edu 37 3 187088876 187088876 + Silent SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:187088876C>A ENST00000259030.2 + 2 566 c.456C>A c.(454-456)gcC>gcA p.A152A NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 152 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ATGACACAGCCAATTGTGAGG 0.483000 22 45 2.70639e-06 2.86313e-06 1 1 0 EMD 2010 broad.mit.edu 37 X 153608140 153608140 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:153608140C>G ENST00000369842.4 + 2 461 c.173C>G c.(172-174)tCt>tGt p.S58C EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 58 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCGCCTCCTCTTATAGCTTC 0.667000 21 48 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175722261 175722261 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:175722261C>T ENST00000443967.1 + 5 2010 c.1603C>T c.(1603-1605)Caa>Taa p.Q535* SIMC1_ENST00000429602.2_Nonsense_Mutation_p.Q554*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.Q120*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.Q120* SUMO-interacting motifs containing 1 CATGAAAATTCAACAGTATGA 0.453000 7 16 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259934 16259934 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:16259934C>A ENST00000375759.3 + 11 7403 c.7199C>A c.(7198-7200)tCt>tAt p.S2400Y NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2400 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCATGTACTTCTGACCTAAGC 0.522000 20 49 4.96729e-08 5.37959e-08 1 1 0 MGAM 8972 broad.mit.edu 37 7 141773904 141773904 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:141773904C>G ENST00000475668.2 + 45 5260 c.5206C>G c.(5206-5208)Ctt>Gtt p.L1736V MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1736 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCCTCTTGGTCTTATTATTGC 0.408000 10 21 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130297521 130297521 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:130297521C>T ENST00000257359.6 - 1 1367 c.661G>A c.(661-663)Gtg>Atg p.V221M NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 221 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AGCGTCTCCACGAAGCGCGCC 0.687000 3 5 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200028 128200028 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:128200028G>A ENST00000341105.2 - 6 1608 c.1277C>T c.(1276-1278)tCc>tTc p.S426F GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.S412F|GATA2_ENST00000487848.1_Missense_Mutation_p.S426F NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 426 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) ACTGAAGGGGGATGACTTCTC 0.602000 Mis AML(CML blast transformation) 17 91 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945577 16945577 + RNA SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:16945577C>G ENST00000412962.1 - 0 1942 GCCATCTTCTCAGACTCCTTC 0.612000 56 513 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5284737 5284737 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:5284737G>C ENST00000262477.6 + 17 2648 c.2424G>C c.(2422-2424)caG>caC p.Q808H NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q775H|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q775H|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q808H|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q765H NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 808 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 AGAGATTACAGACAGAATTAG 0.408000 12 62 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118343093 118343093 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:118343093C>T ENST00000534358.1 + 3 1242 c.1219C>T c.(1219-1221)Cga>Tga p.R407* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R407*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R407* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CAAAAATATTCGACAGTTCAT 0.443000 37 103 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81592460 81592460 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:81592460G>A ENST00000394660.2 + 14 3153 c.2793G>A c.(2791-2793)caG>caA p.Q931Q IL16_ENST00000302987.4_Silent_p.Q931Q|IL16_ENST00000394652.2_Silent_p.Q230Q NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 931 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AGCCCAATCAGAAAACTCTCC 0.642000 4 67 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128362 152128362 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152128362G>A ENST00000316073.3 - 3 1277 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 405 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTCTCTGTCTGACCATAGTGA 0.512000 210 1651 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241798273 241798273 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:241798273G>A ENST00000366553.1 - 1 959 c.796C>T c.(796-798)Ctt>Ttt p.L266F OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 266 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CGAAATGCAAGAATCCTAGTG 0.358000 15 57 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45986918 45986918 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:45986918C>T ENST00000257821.4 - 9 1567 c.944G>A c.(943-945)aGa>aAa p.R315K PHF21A_ENST00000418153.2_Missense_Mutation_p.R314K|PHF21A_ENST00000323180.6_Missense_Mutation_p.R315K|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 314 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TCCAGCGAGTCTGGTCCCTGG 0.537000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 35 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 134997394 134997394 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:134997394G>A ENST00000304613.3 + 5 547 c.526G>A c.(526-528)Gaa>Aaa p.E176K KNDC1_ENST00000368572.2_Missense_Mutation_p.E176K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E111K Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 176 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction 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) CGCGCTGTGTGAAGAGAAGCT 0.657000 19 112 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231954236 231954236 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:231954236G>A ENST00000439617.2 + 9 2007 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.E652K|DISC1_ENST00000535983.1_Missense_Mutation_p.E652K|DISC1_ENST00000366633.3_Missense_Mutation_p.E652K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.E652K|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000539444.1_3'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 652 Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ACTGAGAAGAGAAGTGGAGCA 0.468000 23 95 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28228242 28228242 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:28228242G>A ENST00000343684.3 + 1 1145 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 365 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CAGTGCTGATGAGAAGAGAGC 0.448000 31 120 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598831 153598831 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153598831C>G ENST00000368699.1 - 4 621 c.118G>C c.(118-120)Gag>Cag p.E40Q S100A13_ENST00000339556.4_Missense_Mutation_p.E40Q|S100A13_ENST00000392623.1_Missense_Mutation_p.E40Q|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Missense_Mutation_p.E40Q|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Missense_Mutation_p.E40Q NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 40 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GTAACCAGCTCTTTGAACTCG 0.522000 76 399 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113345005 113345005 + Silent SNP C C T rs150661858 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:113345005C>T ENST00000264852.4 + 24 3090 c.2364C>T c.(2362-2364)ttC>ttT p.F788F SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 788 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGGATTTCTTCGATGACCATG 0.488000 51 186 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90172276 90172276 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:90172276G>A ENST00000394412.3 - 18 3671 c.3595C>T c.(3595-3597)Cgt>Tgt p.R1199C NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1199 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CACATGTAACGGCCCAGTTCC 0.562000 37 67 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134152289 134152289 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:134152289C>G ENST00000452510.2 + 19 2764 c.2606C>G c.(2605-2607)tCt>tGt p.S869C DDX46_ENST00000354283.4_Missense_Mutation_p.S869C NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 869 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCATCGAGTCTCAGGTATTA 0.358000 8 31 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12371683 12371683 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:12371683C>T ENST00000269143.3 - 2 353 c.122G>A c.(121-123)cGa>cAa p.R41Q NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 41 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TGTAACAAATCGGTAAAGCTG 0.348000 14 56 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406314 38406314 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:38406314G>A ENST00000322350.5 + 7 1145 c.799G>A c.(799-801)Gac>Aac p.D267N EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D33N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D267N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 267 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATTTGAAGACGACTTAGATTT 0.453000 10 89 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186505329 186505329 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:186505329T>G ENST00000323963.5 + 9 1019 c.955T>G c.(955-957)Ttc>Gtc p.F319V EIF4A2_ENST00000356531.5_Missense_Mutation_p.F224V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.F320V Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 319 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CATGAGGGAATTCCGGTCAGG 0.398000 T BCL6 NHL 47 135 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653074 153653074 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153653074G>C ENST00000368680.3 + 2 1291 c.819G>C c.(817-819)ctG>ctC p.L273L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 273 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TCTTCCACCTGGATATCTTTG 0.602000 13 78 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55047547 55047547 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:55047547G>A ENST00000330807.5 - 5 713 c.576C>T c.(574-576)tcC>tcT p.S192S ALAS2_ENST00000396198.3_Silent_p.S179S|ALAS2_ENST00000335854.4_Silent_p.S155S NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 192 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TACACCAGACGGACACATCCT 0.527000 26 22 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44585253 44585253 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:44585253G>A ENST00000421176.3 + 3 317 c.101G>A c.(100-102)cGa>cAa p.R34Q ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AAGCTGTATCGAGATGTCATG 0.532000 27 174 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851371 43851371 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:43851371G>A ENST00000372769.3 + 2 1188 c.1098G>A c.(1096-1098)caG>caA p.Q366Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 366 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AGGGCATCCAGAAAGGTGTAT 0.388000 39 140 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72307085 72307085 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:72307085G>A ENST00000263563.6 + 18 2413 c.2145G>A c.(2143-2145)ctG>ctA p.L715L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGGTGCAGCTGCTACCCGATG 0.592000 35 221 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14548392 14548392 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:14548392C>A ENST00000273083.3 - 0 2379 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CGGCGAGAAGCGGGCTGCTGG 0.657000 7 15 0.000274275 0.000284664 1 1 0 TREML1 340205 broad.mit.edu 37 6 41121499 41121499 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:41121499G>T ENST00000373127.4 - 2 421 c.373C>A c.(373-375)Cca>Aca p.P125T TREML1_ENST00000426005.2_Missense_Mutation_p.P125T|TREML1_ENST00000437044.2_Intron NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 125 calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) AACTCACCTGGGGGCAGTATG 0.612000 18 161 1.99824e-07 2.14712e-07 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 141 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42855382 42855382 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:42855382C>T ENST00000200557.6 + 24 2302 c.2133C>T c.(2131-2133)atC>atT p.I711I ADAM11_ENST00000535346.1_Silent_p.I511I NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 711 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) ACTGCAGTATCCATAACCCCC 0.612000 92 181 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 87217666 87217666 + Splice_Site SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:87217666C>T ENST00000441037.2 + 22 3177 c.3082C>T c.(3082-3084)Cga>Tga p.R1028* AGBL1_ENST00000389298.3_Splice_Site_p.R759*|AGBL1_ENST00000421325.2_Splice_Site_p.R1028* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1028 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCACCTCCAACGGTAAGATGC 0.532000 14 15 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79985563 79985563 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:79985563C>T ENST00000306688.3 + 8 1189 c.847C>T c.(847-849)Cgt>Tgt p.R283C NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 283 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GTCGGCAGCCCGTGTAGGGCA 0.607000 5 24 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3414972 3414972 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:3414972G>C ENST00000356575.4 - 26 3541 c.3315C>G c.(3313-3315)ctC>ctG p.L1105L MEGF6_ENST00000294599.4_Silent_p.L914L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1105 EGF-like 20. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CGGCTGGGCAGAGGCAGCGGC 0.711000 9 7 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908332 103908332 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:103908332C>T ENST00000302259.3 + 1 1025 c.782C>T c.(781-783)tCg>tTg p.S261L PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 261 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTTGTTGACTCGGGCGCCCAG 0.527000 40 123 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142188196 142188196 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:142188196T>C ENST00000350721.4 - 38 6656 c.6535A>G c.(6535-6537)Atg>Gtg p.M2179V RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.M2115V NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2179 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACAGCTGTCATCATCCACATT 0.318000 Other conserved DNA damage response genes 22 82 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94574256 94574256 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:94574256G>A ENST00000370225.3 - 4 405 c.319C>T c.(319-321)Cga>Tga p.R107* ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R107* NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 107 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGAAAATCTCGATATACCCTT 0.388000 25 54 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112757 81112757 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:81112757C>T ENST00000228644.3 + 3 847 c.695C>T c.(694-696)cCa>cTa p.P232L NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 232 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TCTCTCTCTCCAGTTGCCAGC 0.488000 24 75 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91341440 91341440 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:91341440G>A ENST00000355112.3 + 17 3349 c.3231G>A c.(3229-3231)gtG>gtA p.V1077V BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V1077V NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1077 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CAAGAGATGTGACTGACGATG 0.294000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 10 50 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72428448 72428448 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:72428448C>G ENST00000477973.2 - 2 553 c.554G>C c.(553-555)gGa>gCa p.G185A NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein Interaction with E4TF1B.|Ser-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GGACTAATTTCCTTGTCTTTC 0.388000 15 145 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145594092 145594092 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:145594092C>T ENST00000334163.3 - 14 1630 c.1470G>A c.(1468-1470)atG>atA p.M490I POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 490 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GAGCTGTGATCATCTCCTCTA 0.443000 37 170 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193795 28193795 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:28193795C>T ENST00000302326.4 - 1 3691 c.2737G>A c.(2737-2739)Ggg>Agg p.G913R NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 913 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTGCCGTCCCCCTGGGCTGGA 0.741000 T ETV6 """AML, meningioma""" 7 24 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150970638 150970638 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:150970638G>A ENST00000361936.5 - 9 2047 c.1093C>T c.(1093-1095)Cac>Tac p.H365Y FAM63A_ENST00000361738.6_Missense_Mutation_p.H413Y|FAM63A_ENST00000312210.5_Missense_Mutation_p.H223Y|FAM63A_ENST00000493834.2_Missense_Mutation_p.H270Y NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 365 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGACTCAGGTGAAAGTCAGAG 0.562000 106 227 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63195969 63195969 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:63195969C>A ENST00000399298.3 - 2 597 c.229G>T c.(229-231)Gtt>Ttt p.V77F TMEM26_ENST00000399293.1_Missense_Mutation_p.V77F NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 77 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AATGATGGAACGATGCTAATC 0.323000 19 23 1.00905e-13 1.11935e-13 1 1 0 TRIP13 9319 broad.mit.edu 37 5 893166 893166 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:893166C>T ENST00000166345.3 + 1 409 c.53C>T c.(52-54)tCg>tTg p.S18L NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 18 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GTGGCCGAGTCGCCAACGGTC 0.731000 4 24 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 27 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48213403 48213403 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:48213403G>A ENST00000316878.6 - 10 2229 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 743 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TACTGCGCCTGAGTCTCCCGC 0.642000 8 22 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91346861 91346861 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:91346861G>A ENST00000355112.3 + 18 3587 c.3469G>A c.(3469-3471)Gaa>Aaa p.E1157K BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1157 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GATTTTGGATGAAGACTTATA 0.358000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 41 51 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549209 44549209 + Nonsense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:44549209C>A ENST00000451265.1 - 1 1325 c.1090G>T c.(1090-1092)Gaa>Taa p.E364* KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 AGAACGGGTTCAAGAACCGAG 0.612000 32 771 6.00712e-18 6.69086e-18 1 1 0 TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr17:7577090C>G ENST00000420246.2 - 8 980 c.848G>C c.(847-849)cGc>cCc p.R283P TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 283 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCCTCTGTGCGCCGGTCTCT 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 46 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151130 145151130 + Nonsense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:145151130G>T ENST00000318911.4 + 3 503 c.430G>T c.(430-432)Gaa>Taa p.E144* NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 144 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACGGAGGATGAAGCTAAGGA 0.627000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 328 3.2641e-12 3.59182e-12 1 1 0 HEPHL1 341208 broad.mit.edu 37 11 93839183 93839183 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:93839183C>T ENST00000315765.9 + 17 2940 c.2932C>T c.(2932-2934)Ctc>Ttc p.L978F NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 978 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTTTGGGAATCTCCATGGCCT 0.338000 12 35 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588591 153588591 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:153588591G>A ENST00000422373.1 - 22 3820 c.3572C>T c.(3571-3573)gCg>gTg p.A1191V FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1191 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTCAGCTCCGCGCTGCCCGC 0.642000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 68 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945508 16945508 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:16945508C>A ENST00000412962.1 - 0 2011 TTCTGCCGCTCCATCTCCAGG 0.637000 24 360 1.9806e-07 2.13655e-07 1 1 0 PRPF3 9129 broad.mit.edu 37 1 150325454 150325454 + Nonstop_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:150325454G>C ENST00000324862.6 + 16 2216 c.2051G>C c.(2050-2052)tGa>tCa p.*684S PRPF3_ENST00000414970.2_Nonstop_Mutation_p.*635S|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 0 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TCCACTGATTGAGACTACTGC 0.493000 35 121 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458116 20458116 + Silent SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:20458116C>G ENST00000426804.1 - 1 3670 c.3186G>C c.(3184-3186)cgG>cgC p.R1062R NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCAGCAAGTCCCGTGGCAGCC 0.662000 10 35 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20691172 20691172 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:20691172G>A ENST00000404938.2 + 13 2114 c.1462G>A c.(1462-1464)Gat>Aat p.D488N ABCB5_ENST00000406935.1_Missense_Mutation_p.D43N|ABCB5_ENST00000258738.6_Missense_Mutation_p.D43N|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_Missense_Mutation_p.D43N NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 43 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TGGACGAGATGATGTGACTGA 0.438000 27 161 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587548 110587548 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:110587548C>T ENST00000399066.3 - 6 2297 c.1570G>A c.(1570-1572)Gac>Aac p.D524N SYBU_ENST00000419099.1_Missense_Mutation_p.D526N|SYBU_ENST00000533171.1_Missense_Mutation_p.D527N|SYBU_ENST00000408889.3_Missense_Mutation_p.D408N|SYBU_ENST00000276646.9_Missense_Mutation_p.D527N|SYBU_ENST00000408908.2_Missense_Mutation_p.D527N|SYBU_ENST00000422135.1_Missense_Mutation_p.D527N|SYBU_ENST00000528331.1_Missense_Mutation_p.D408N|SYBU_ENST00000533065.1_Missense_Mutation_p.D408N|SYBU_ENST00000446070.2_Missense_Mutation_p.D526N|SYBU_ENST00000529175.1_Missense_Mutation_p.D321N|SYBU_ENST00000433638.1_Missense_Mutation_p.D527N|SYBU_ENST00000529690.1_Missense_Mutation_p.D397N|SYBU_ENST00000532779.1_Missense_Mutation_p.D459N|SYBU_ENST00000424158.2_Missense_Mutation_p.D532N|SYBU_ENST00000440310.1_Missense_Mutation_p.D527N|SYBU_ENST00000533895.1_Missense_Mutation_p.D526N|SYBU_ENST00000528647.1_Missense_Mutation_p.D526N NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 527 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCCATCGAGTCTGGTTCAGAC 0.557000 23 69 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101853645 101853645 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:101853645G>C ENST00000348070.1 - 21 2631 c.2632C>G c.(2632-2634)Cca>Gca p.P878A PCSK6_ENST00000358417.3_Missense_Mutation_p.P865A|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 879 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCACAGGCTGGCACACACTTC 0.572000 8 99 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35695204 35695204 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:35695204C>G ENST00000373664.3 - 6 835 c.769G>C c.(769-771)Gat>Cat p.D257H RBL1_ENST00000344359.3_Missense_Mutation_p.D257H NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 257 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAAGTCCATCATGCAGTTCA 0.393000 25 74 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2955833 2955833 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:2955833C>T ENST00000380520.1 - 2 2231 c.237G>A c.(235-237)gtG>gtA p.V79V SERPINB6_ENST00000380524.1_Silent_p.V79V|SERPINB6_ENST00000335686.5_Silent_p.V79V|SERPINB6_ENST00000380529.1_Silent_p.V79V|SERPINB6_ENST00000380539.1_Silent_p.V79V|SERPINB6_ENST00000380546.3_Silent_p.V79V P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 79 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CAGTCTTGTTCACTTCGGTGA 0.433000 35 87 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:46387865C>T ENST00000302165.3 - 1 1511 c.1168G>A c.(1168-1170)Gag>Aag p.E390K NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCAGCCGCCTCGCCCTCCGGC 0.751000 4 42 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102483277 102483277 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:102483277T>C ENST00000369138.1 + 14 2637 c.2147T>C c.(2146-2148)gTg>gCg p.V716A GRIK2_ENST00000369137.3_Missense_Mutation_p.V640A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V716A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V667A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V716A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V716A NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 716 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCAGTCAGTGCTGGTCAAA 0.408000 40 145 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268509 21268509 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:21268509C>T ENST00000602326.1 - 12 1571 c.988G>A c.(988-990)Gac>Aac p.D330N EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D324N|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D335N|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D330N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D324N|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D324N|EIF4G3_ENST00000374935.3_Intron NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 324 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.D324Y(1)|p.D330Y(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGTAAAGGGTCTGATGTTTCT 0.388000 73 186 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236766649 236766649 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:236766649C>G ENST00000366582.3 - 3 284 c.170G>C c.(169-171)gGa>gCa p.G57A HEATR1_ENST00000366581.2_Missense_Mutation_p.G57A|HEATR1_ENST00000366579.1_Missense_Mutation_p.G57A NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 57 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGATCAATTCCAAGCAACTC 0.408000 13 50 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675142 81675142 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:81675142G>A ENST00000550584.2 - 26 3401 c.3106C>T c.(3106-3108)Cag>Tag p.Q1036* PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q935*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q883*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1030*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1036*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q931*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1015*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q222*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q572* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 935 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTTCTGTACTGAGGTAACCCC 0.388000 14 73 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37319265 37319265 + Missense_Mutation SNP G G A rs142974275 byFrequency TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:37319265G>A ENST00000373091.3 - 8 1179 c.1163C>T c.(1162-1164)aCg>aTg p.T388M GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M|GRIK3_ENST00000462621.1_5'UTR NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 388 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ATCAAAATCCGTCCGCAAGCC 0.547000 20 60 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959431 45959431 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:45959431G>T ENST00000400375.1 - 1 647 c.603C>A c.(601-603)ccC>ccA p.P201P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 201 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CAGAGCAGACGGGCACACAGC 0.662000 104 227 2.32228e-54 2.61854e-54 1 1 0 C20orf141 128653 broad.mit.edu 37 20 2796220 2796220 + Silent SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:2796220C>A ENST00000380589.4 + 2 471 c.297C>A c.(295-297)ctC>ctA p.L99L TMEM239_ENST00000380593.4_Intron|C20orf141_ENST00000603872.1_Silent_p.L99L|TMEM239_ENST00000554164.1_Intron NM_080739.2 NP_542777.1 Q9NUB4 CT141_HUMAN chromosome 20 open reading frame 141 99 Leu-rich. integral to membrane endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 10 GCAAACTTCTCACCAGGGGCC 0.612000 5 59 1.23904e-05 1.30576e-05 1 1 0 CUL2 8453 broad.mit.edu 37 10 35317755 35317755 + Missense_Mutation SNP C C T rs76203075 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:35317755C>T ENST00000374748.1 - 17 1913 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K CUL2_ENST00000374751.3_Missense_Mutation_p.E534K|CUL2_ENST00000374749.3_Missense_Mutation_p.E534K|CUL2_ENST00000537177.1_Missense_Mutation_p.E553K|CUL2_ENST00000602371.1_Missense_Mutation_p.E477K|CUL2_ENST00000374746.1_Missense_Mutation_p.E534K|CUL2_ENST00000374742.1_Missense_Mutation_p.E534K Q13617 CUL2_HUMAN cullin 2 534 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ACACTTTTTTCTAATTCCTGG 0.323000 3 30 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117617594 117617594 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:117617594G>A ENST00000369466.4 + 5 432 c.388G>A c.(388-390)Gac>Aac p.D130N NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CAAGGTACTTGACAAGAATCA 0.408000 20 67 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26168458 26168458 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr22:26168458C>T ENST00000335473.7 + 7 2100 c.1850C>T c.(1849-1851)tCg>tTg p.S617L MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L|MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 617 Myosin head-like. 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 CGGGGGCCCTCGGTGCCTTCT 0.642000 24 34 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145035857 145035857 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:145035857C>T ENST00000360771.4 - 6 536 c.421G>A c.(421-423)Gaa>Aaa p.E141K GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 141 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTTTCTATTTCAACAGAACTT 0.353000 8 31 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145594124 145594124 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:145594124C>G ENST00000334163.3 - 14 1598 c.1438G>C c.(1438-1440)Gag>Cag p.E480Q POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 480 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGTGCTTCCTCTGCACCAGTA 0.443000 30 148 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27327301 27327301 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:27327301A>G ENST00000404694.3 - 1 304 c.300T>C c.(298-300)tgT>tgC p.C100C CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000312734.4_Intron Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 0 EF-hand 1. cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCGTGTCACAGATGGGCT 0.542000 4 16 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406338 38406338 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:38406338G>C ENST00000322350.5 + 7 1169 c.823G>C c.(823-825)Gag>Cag p.E275Q EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 275 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TATTTCCTTTGAGGAGGTAAC 0.428000 4 70 0 0 1 0 0 TPM3 7170 broad.mit.edu 37 1 154163692 154163692 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:154163692C>T ENST00000368530.2 - 2 405 c.213G>A c.(211-213)aaG>aaA p.K71K TPM3_ENST00000271850.7_Silent_p.K71K NM_152263.2 NP_689476.2 P06753 TPM3_HUMAN tropomyosin 3 70 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCAGTTCCAGCTTCTCCTGGG 0.448000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 76 104 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93839273 93839273 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:93839273C>G ENST00000315765.9 + 17 3030 c.3022C>G c.(3022-3024)Cat>Gat p.H1008D NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 1008 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CATCCATTATCATGCTGAGAG 0.358000 19 56 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859826 43859826 + RNA SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:43859826G>A ENST00000378009.4 + 0 435 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAGGATCCTTGAGGTGCCCAG 0.557000 36 76 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127533 152127533 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152127533G>A ENST00000316073.3 - 3 2106 c.2042C>T c.(2041-2043)tCa>tTa p.S681L NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 681 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTACTGCATGATTGCCAGTC 0.532000 44 335 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27755387 27755387 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:27755387G>A ENST00000430629.2 - 2 229 c.14C>T c.(13-15)aCg>aTg p.T5M WASF2_ENST00000536657.1_Missense_Mutation_p.T5M NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 5 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GATGTTCCTCGTTACTAACGG 0.473000 15 62 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153652193 153652193 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153652193G>T ENST00000368680.3 + 1 1081 c.609G>T c.(607-609)ctG>ctT p.L203L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 203 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGAGGGGCTGTTCATGCGGG 0.667000 4 24 0.00909568 0.00936923 1 1 0 CADPS 8618 broad.mit.edu 37 3 62860633 62860633 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:62860633G>A ENST00000383710.4 - 1 421 c.72C>T c.(70-72)ctC>ctT p.L24L CADPS_ENST00000357948.3_Silent_p.L24L|CADPS_ENST00000283269.9_Silent_p.L24L|CADPS_ENST00000490353.2_Silent_p.L24L NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 24 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) GGGCCGAGCCGAGCACCTCCT 0.741000 6 12 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841921 208841921 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr2:208841921T>C ENST00000457206.1 - 3 1427 c.1000A>G c.(1000-1002)Aca>Gca p.T334A PLEKHM3_ENST00000427836.2_Missense_Mutation_p.T334A|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T334A Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 334 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGATTCTGTGTATAGTCATCA 0.517000 13 105 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:44664045C>G ENST00000222673.5 + 2 145 c.103C>G c.(103-105)Caa>Gaa p.Q35E OGDH_ENST00000444676.1_Missense_Mutation_p.Q35E|OGDH_ENST00000449767.1_Missense_Mutation_p.Q35E|OGDH_ENST00000443864.2_Missense_Mutation_p.Q35E|OGDH_ENST00000439616.2_Missense_Mutation_p.Q35E|OGDH_ENST00000447398.1_Missense_Mutation_p.Q35E NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.Q35K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468000 87 161 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653103 153653103 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:153653103G>T ENST00000368680.3 + 2 1320 c.848G>T c.(847-849)gGa>gTa p.G283V NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 283 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGCAAGGTGGACAGGGCCCT 0.612000 6 81 0.248553 0.248553 1 1 0 MIR1323 100302255 broad.mit.edu 37 19 54175252 54175252 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:54175252C>A ENST00000408090.1 + 0 31 NR_031568.1 GGGGCATTTTCTGTGGTTTGA 0.483000 5 81 0.014758 0.0150884 1 1 0 NDUFAF5 79133 broad.mit.edu 37 20 13765904 13765904 + Nonsense_Mutation SNP G G T rs147117631 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:13765904G>T ENST00000378106.5 + 1 309 c.190G>T c.(190-192)Gag>Tag p.E64* NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64* NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 64 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CCGGCAGCCCGAGCCGACCAA 0.632000 5 32 0.184627 0.185304 1 1 0 FLNA 2316 broad.mit.edu 37 X 153588592 153588592 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chrX:153588592C>G ENST00000422373.1 - 22 3819 c.3571G>C c.(3571-3573)Gcg>Ccg p.A1191P FLNA_ENST00000344736.4_Missense_Mutation_p.A1191P|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191P|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1191 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCAGCTCCGCGCTGCCCGCG 0.642000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 66 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568298 7568298 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:7568298C>T ENST00000340209.4 + 2 489 c.192C>T c.(190-192)ccC>ccT p.P64P RBFOX1_ENST00000553186.1_Silent_p.P59P|RBFOX1_ENST00000311745.5_Silent_p.P79P|RBFOX1_ENST00000355637.4_Silent_p.P79P|RBFOX1_ENST00000547372.1_Silent_p.P102P|RBFOX1_ENST00000547338.1_Silent_p.P59P|RBFOX1_ENST00000422070.4_Silent_p.P102P|RBFOX1_ENST00000552089.1_Silent_p.P95P|RBFOX1_ENST00000550418.1_Silent_p.P59P|RBFOX1_ENST00000535565.2_Silent_p.P95P|RBFOX1_ENST00000436368.2_Silent_p.P79P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 59 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCACGGTTCCCGAGCACACAT 0.657000 57 171 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174253275 174253275 + Missense_Mutation SNP C C T rs17849374 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:174253275C>T ENST00000296503.5 - 5 1459 c.586G>A c.(586-588)Gaa>Aaa p.E196K HMGB2_ENST00000438704.2_Missense_Mutation_p.E196K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E196K P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) tcatcttcttcttcctcctcc 0.468000 16 66 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200119 128200119 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr3:128200119G>A ENST00000341105.2 - 6 1517 c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.R382W|GATA2_ENST00000487848.1_Missense_Mutation_p.R396W NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 396 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TTCCGGTTCCGAGTCTGGATC 0.537000 Mis AML(CML blast transformation) 21 107 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71067186 71067186 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr4:71067186C>T ENST00000396094.2 + 7 592 c.544C>T c.(544-546)Caa>Taa p.Q182* NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 182 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 ATTCTATGCTCAATTTGGATA 0.259000 6 16 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234288 155234288 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:155234288C>G ENST00000368361.4 - 10 1432 c.1117G>C c.(1117-1119)Gaa>Caa p.E373Q CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E372Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E371Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E373Q P49760 CLK2_HUMAN CDC-like kinase 2 373 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACATAGTATTCAAAGATGATG 0.493000 Other conserved DNA damage response genes 12 58 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599891 29599891 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr13:29599891A>G ENST00000431530.3 + 1 1144 c.1086A>G c.(1084-1086)gcA>gcG p.A362A NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 352 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GTGGGGAAGCACACCCGGAAG 0.567000 6 77 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17127619 17127619 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:17127619T>C ENST00000377833.4 - 16 2152 c.2087A>G c.(2086-2088)cAt>cGt p.H696R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 696 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTAGGTGATATGGAAGCCTTG 0.443000 16 144 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35423591 35423591 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:35423591C>T ENST00000229769.2 + 2 501 c.316C>T c.(316-318)Cgg>Tgg p.R106W NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 106 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 GATGGCCGTTCGGCCATCGCT 0.607000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 108 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125398267 125398267 + Silent SNP A A C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:125398267A>C ENST00000536769.1 - 1 1627 c.51T>G c.(49-51)gtT>gtG p.V17V UBC_ENST00000339647.5_Silent_p.V17V|UBC_ENST00000538617.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000536661.1_5'UTR P0CG48 UBC_HUMAN ubiquitin C 17 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCAACCTCGAGGG 0.473000 5 208 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20418703 20418703 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:20418703C>T ENST00000222573.4 + 4 1102 c.418C>T c.(418-420)Cat>Tat p.H140Y ITGB8_ENST00000537992.1_Missense_Mutation_p.H5Y NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCTGAAAGTTCATCCTCTGAA 0.303000 13 68 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140627 3140627 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:3140627C>T ENST00000252463.2 - 5 730 c.643G>A c.(643-645)Gac>Aac p.D215N ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.D133N|ZSCAN10_ENST00000572548.1_3'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 215 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TCCTCCTTGTCTGGGGTTCTG 0.557000 10 47 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129107265 129107265 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr7:129107265C>G ENST00000249344.2 + 17 1891 c.1851C>G c.(1849-1851)atC>atG p.I617M STRIP2_ENST00000435494.2_Missense_Mutation_p.I617M NM_020704.2 NP_065755.1 striatin interacting protein 2 ATCAAAATATCTTGTCATACA 0.383000 9 31 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566481 56566481 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr12:56566481G>A ENST00000394023.3 - 19 1856 c.1751C>T c.(1750-1752)tCt>tTt p.S584F SMARCC2_ENST00000347471.4_Missense_Mutation_p.S584F|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S584F|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S553F|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 553 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTGGGAAGCAGAGGTCTGCTA 0.463000 36 106 0 0 1 0 0 SEPT1 1731 broad.mit.edu 37 16 30393431 30393431 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr16:30393431T>C ENST00000321367.3 - 4 350 c.305A>G c.(304-306)cAg>cGg p.Q102R SEPT1_ENST00000571393.1_Missense_Mutation_p.Q55R|SEPT1_ENST00000605106.1_Missense_Mutation_p.Q60R NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 55 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) CTCTGGCACCTGGCGATCCTC 0.587000 6 10 0 0 1 0 0 SMOX 54498 broad.mit.edu 37 20 4162527 4162527 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr20:4162527C>T ENST00000305958.4 + 4 738 c.513C>T c.(511-513)ttC>ttT p.F171F SMOX_ENST00000278795.3_Silent_p.F171F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.F171F|SMOX_ENST00000339123.6_Silent_p.F171F|SMOX_ENST00000484515.1_3'UTR NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 171 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) TGGGGGTGTTCACCCGAGAGG 0.542000 22 116 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74290715 74290715 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr15:74290715C>G ENST00000565898.1 + 2 584 c.500C>G c.(499-501)gCa>gGa p.A167G PML_ENST00000564428.1_Missense_Mutation_p.A167G|PML_ENST00000359928.4_Missense_Mutation_p.A167G|PML_ENST00000354026.6_Missense_Mutation_p.A167G|PML_ENST00000395132.2_Missense_Mutation_p.A167G|PML_ENST00000395135.3_Missense_Mutation_p.A167G|PML_ENST00000268059.6_Missense_Mutation_p.A167G|PML_ENST00000563500.1_Missense_Mutation_p.A167G|PML_ENST00000436891.3_Missense_Mutation_p.A167G|PML_ENST00000567543.1_Missense_Mutation_p.A167G|PML_ENST00000268058.3_Missense_Mutation_p.A167G|PML_ENST00000435786.2_Missense_Mutation_p.A167G|PML_ENST00000569965.1_Missense_Mutation_p.A167G|PML_ENST00000569477.1_Missense_Mutation_p.A167G P29590 PML_HUMAN promyelocytic leukemia 167 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CGGCCCCTAGCAGAGCTGCGC 0.632000 T """RARA, PAX5""" """APL, ALL""" 8 55 0 0 1 0 0 FOXA3 3171 broad.mit.edu 37 19 46375759 46375759 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:46375759C>T ENST00000302177.2 + 2 693 c.496C>T c.(496-498)Cgc>Tgc p.R166C NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 166 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) GAACTCCATTCGCCACTCGCT 0.587000 36 121 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747380 62747380 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr11:62747380G>A ENST00000377871.3 - 7 1344 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.L360L|SLC22A6_ENST00000458333.2_Silent_p.L360L|SLC22A6_ENST00000360421.4_Silent_p.L360L NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 360 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AAGCCCTGCAGGTCCATGACC 0.517000 17 65 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39678687 39678687 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr8:39678687C>G ENST00000265708.4 - 6 450 c.347G>C c.(346-348)gGc>gCc p.G116A ADAM2_ENST00000347580.4_Missense_Mutation_p.G116A|ADAM2_ENST00000521880.1_Missense_Mutation_p.G116A|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.G116A NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 116 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTGTAGTACGCCCCTAAAAAT 0.313000 5 2 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593069 7593069 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:7593069G>A ENST00000264079.6 + 7 928 c.803G>A c.(802-804)aGt>aAt p.S268N NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 268 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAAGCACACAGTGGGCGGATC 0.617000 37 123 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152130234 152130234 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:152130234G>T ENST00000316073.3 - 2 196 c.132C>A c.(130-132)atC>atA p.I44I NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 44 EF-hand 1.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTACCTGGAGGATGTCTCCAA 0.463000 13 71 6.72482e-11 7.37041e-11 1 1 0 LAMC3 10319 broad.mit.edu 37 9 133920995 133920995 + Silent SNP C C T rs143375693 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:133920995C>T ENST00000361069.4 + 8 1600 c.1467C>T c.(1465-1467)tgC>tgT p.C489C LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 489 Laminin EGF-like 5; first part. cell adhesion basement membrane|membrane structural molecule activity p.C489C(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAAGGTGTGCGCGTCCACTG 0.597000 4 116 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88904043 88904043 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:88904043C>T ENST00000268695.5 - 5 641 c.553G>A c.(553-555)Gag>Aag p.E185K GALNS_ENST00000542788.1_Missense_Mutation_p.E110K NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 185 E -> G (in MPS4A; severe form). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CCAACCATCTCCCAGTCCCTG 0.607000 18 94 0 0 1 0 0 CUL2 8453 broad.mit.edu 37 10 35317755 35317755 + Missense_Mutation SNP C C T rs76203075 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:35317755C>T ENST00000374748.1 - 17 1913 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K CUL2_ENST00000374746.1_Missense_Mutation_p.E534K|CUL2_ENST00000602371.1_Missense_Mutation_p.E477K|CUL2_ENST00000374742.1_Missense_Mutation_p.E534K|CUL2_ENST00000374749.3_Missense_Mutation_p.E534K|CUL2_ENST00000374751.3_Missense_Mutation_p.E534K|CUL2_ENST00000537177.1_Missense_Mutation_p.E553K Q13617 CUL2_HUMAN cullin 2 534 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ACACTTTTTTCTAATTCCTGG 0.323000 3 30 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121740413 121740413 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:121740413C>T ENST00000452319.1 + 11 1700 c.1640C>T c.(1639-1641)gCc>gTc p.A547V GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.A547V|GLI2_ENST00000314490.11_Missense_Mutation_p.A219V P10070 GLI2_HUMAN GLI family zinc finger 2 547 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTCTCCAACGCCTCGGACCGC 0.632000 23 89 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895431 42895431 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:42895431T>G ENST00000399770.2 + 1 148 c.148T>G c.(148-150)Tgt>Ggt p.C50G NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 50 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TGCCAGTATCTGTGGGATAGA 0.507000 12 181 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553639 106553639 + Nonsense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:106553639C>G ENST00000369096.4 + 5 1838 c.1604C>G c.(1603-1605)tCa>tGa p.S535* PRDM1_ENST00000369089.3_Nonsense_Mutation_p.S401*|PRDM1_ENST00000369091.2_Nonsense_Mutation_p.S499* NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 535 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AAAGCTACCTCAGCAGCGATG 0.587000 """D, N, Mis, F, S""" DLBCL 22 77 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 102020025 102020025 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:102020025T>C ENST00000354105.4 - 4 325 c.239A>G c.(238-240)tAt>tGt p.Y80C NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 80 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) ATCCTGGAAATATTTTACTGT 0.338000 16 90 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723098 21723098 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:21723098G>A ENST00000399496.3 + 2 185 c.20G>A c.(19-21)aGa>aAa p.R7K CABYR_ENST00000581397.1_Missense_Mutation_p.R7K|CABYR_ENST00000415309.2_Missense_Mutation_p.R7K|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.R7K NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 7 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCAAAGCCCAGACTTGTCGTA 0.383000 42 84 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598931 153598931 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153598931C>T ENST00000368699.1 - 4 521 c.18G>A c.(16-18)ctG>ctA p.L6L S100A13_ENST00000392622.1_Silent_p.L6L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Silent_p.L6L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000339556.4_Silent_p.L6L|S100A13_ENST00000392623.1_Silent_p.L6L NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 6 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTAGCTCTGTCAGTGGTTCTG 0.557000 38 225 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51128771 51128771 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:51128771G>A ENST00000338916.4 - 6 2086 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W SYT3_ENST00000600079.1_Missense_Mutation_p.R485W|SYT3_ENST00000544769.1_Missense_Mutation_p.R485W|SYT3_ENST00000593901.1_Missense_Mutation_p.R485W NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 485 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GAGGTTTTCCGCTTCTTCAGA 0.577000 8 22 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 4 87 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26789665 26789665 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr13:26789665C>T ENST00000381588.4 - 5 1106 c.354G>A c.(352-354)cgG>cgA p.R118R RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000346166.3_Silent_p.R118R|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Silent_p.R118R NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 118 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCCTGTGCGCCGAAAGGTGT 0.428000 23 62 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107602650 107602650 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:107602650G>A ENST00000374736.3 - 9 1358 c.964C>T c.(964-966)Ctc>Ttc p.L322F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 322 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TACCAGTTGAGAGACTTGATC 0.517000 12 72 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999886 45999886 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr21:45999886G>T ENST00000400372.1 - 1 595 c.570C>A c.(568-570)ccC>ccA p.P190P TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 190 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CAGAGCAGACGGGCACACAGC 0.632000 7 418 0.0293803 0.0298046 1 1 0 POLR3C 10623 broad.mit.edu 37 1 145594178 145594178 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:145594178C>G ENST00000334163.3 - 14 1544 c.1384G>C c.(1384-1386)Gaa>Caa p.E462Q POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 462 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGAGATTTTTCTAGTAGACGC 0.473000 18 86 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362858 55362858 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:55362858G>A ENST00000290552.7 + 5 2300 c.968G>A c.(967-969)gGa>gAa p.G323E RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 323 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GACCCTTCCGGATCGGAAGAA 0.642000 19 80 0 0 1 0 0 BMI1 648 broad.mit.edu 37 10 22616718 22616718 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:22616718G>A ENST00000376663.3 + 5 818 c.313G>A c.(313-315)Gat>Aat p.D105N COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D248N NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 TCCTTCTGCTGATGGTAAACC 0.358000 20 63 0 0 1 0 0 GLT8D1 55830 broad.mit.edu 37 3 52729490 52729490 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:52729490C>G ENST00000407584.3 - 9 1609 c.759G>C c.(757-759)tgG>tgC p.W253C GLT8D1_ENST00000394783.3_Missense_Mutation_p.W253C|GLT8D1_ENST00000266014.5_Missense_Mutation_p.W253C|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000478968.2_Missense_Mutation_p.W253C|GLT8D1_ENST00000491606.1_Missense_Mutation_p.W253C NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 253 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGTCGTTTCCATTCCGTCA 0.363000 28 90 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788617 3788617 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:3788617C>A ENST00000262367.5 - 26 5146 c.4337G>T c.(4336-4338)cGc>cTc p.R1446L CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1446 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1446H(4)|p.R1446L(3) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AACGGCTGTGCGGAGGCAACG 0.408000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 9 20 4.68919e-08 5.12709e-08 1 1 0 EGFLAM 133584 broad.mit.edu 37 5 38406325 38406325 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:38406325G>A ENST00000322350.5 + 7 1156 c.810G>A c.(808-810)ttG>ttA p.L270L EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.L36L|EGFLAM_ENST00000354891.3_Silent_p.L270L NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 270 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTTAGATTTGGATATTTCCT 0.463000 8 75 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721364 183721364 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:183721364G>A ENST00000511685.1 + 28 8083 c.7960G>A c.(7960-7962)Gag>Aag p.E2654K TENM3_ENST00000406950.2_Missense_Mutation_p.E2654K teneurin transmembrane protein 3 GACGGAGGGCGAGAAGCGGCA 0.741000 5 23 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629828 1629828 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:1629828C>T ENST00000381580.1 - 2 380 c.201G>A c.(199-201)atG>atA p.M67I SIRPG_ENST00000381583.2_Missense_Mutation_p.M100I|SIRPG_ENST00000303415.3_Missense_Mutation_p.M100I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M100I|SIRPG_ENST00000216927.4_Missense_Mutation_p.M100I Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 100 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGGAAAAGTCCATGTTGTTTC 0.473000 47 135 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101620744 101620744 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:101620744G>A ENST00000311812.2 - 8 809 c.659C>T c.(658-660)gCg>gTg p.A220V SNX31_ENST00000428383.2_Missense_Mutation_p.A121V NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 220 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAAATCTACCGCCACCCTGCA 0.512000 18 42 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995261 140995261 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:140995261C>T ENST00000285879.4 + 4 2357 c.2071C>T c.(2071-2073)Cct>Tct p.P691S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 691 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCCTGTCTCCTCTCCAAAT 0.567000 HNSCC(15;0.026) 35 104 0 0 1 0 0 HFE 3077 broad.mit.edu 37 6 26093381 26093381 + Silent SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:26093381C>G ENST00000357618.5 + 5 1049 c.927C>G c.(925-927)gtC>gtG p.V309V HFE_ENST00000352392.4_Silent_p.V37V|HFE_ENST00000349999.4_Silent_p.V221V|HFE_ENST00000470149.1_Silent_p.V306V|HFE_ENST00000488199.1_Silent_p.V207V|HFE_ENST00000317896.7_Silent_p.V217V|HFE_ENST00000397022.3_Silent_p.V286V|HFE_ENST00000309234.6_Silent_p.V309V|HFE_ENST00000461397.1_Silent_p.V295V|HFE_ENST00000353147.5_Silent_p.V129V|HFE_ENST00000336625.8_Silent_p.V203V NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 309 antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATTGGAGTCATCAGTGGAA 0.448000 Hemochromatosis 12 69 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17750927 17750927 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:17750927G>A ENST00000377524.3 + 13 1577 c.1362G>A c.(1360-1362)caG>caA p.Q454Q STAM_ENST00000540523.1_Silent_p.Q343Q NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 454 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TTCCTAGTCAGCAGACTCAGG 0.502000 34 143 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52841612 52841612 + Missense_Mutation SNP T T A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:52841612T>A ENST00000375503.3 + 1 385 c.22T>A c.(22-24)Tat>Aat p.Y8N XAGE5_ENST00000425386.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000351072.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000375501.1_Missense_Mutation_p.Y8N Q8WWM1 GAGD5_HUMAN X antigen family, member 5 8 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 AGGAAGAAGATATAGACCAAG 0.458000 56 40 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9453491 9453491 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:9453491G>A ENST00000378501.2 + 33 3384 c.3369G>A c.(3367-3369)aaG>aaA p.K1123K PLCB4_ENST00000278655.4_Silent_p.K1123K|PLCB4_ENST00000334005.3_Silent_p.K1123K|PLCB4_ENST00000414679.2_Silent_p.K1135K|PLCB4_ENST00000378473.3_Silent_p.K1135K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.K1123K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1123 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAGAAAGAAAGAGAGTAAGTA 0.328000 15 82 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47375993 47375993 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:47375993T>C ENST00000285039.7 - 32 4558 c.4259A>G c.(4258-4260)gAg>gGg p.E1420G MYO5B_ENST00000324581.6_Missense_Mutation_p.E535G|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_5'UTR NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1420 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GAGCTTCCTCTCATTCTTTTC 0.473000 16 260 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314236 54314236 + Missense_Mutation SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:54314236A>G ENST00000324134.6 - 3 845 c.677T>C c.(676-678)cTg>cCg p.L226P NLRP12_ENST00000351894.4_Missense_Mutation_p.L226P|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226P|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226P|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226P|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226P|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226P|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226P NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 226 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTTGTGTGCCAGCATGGACTT 0.582000 13 78 0 0 1 0 0 NDUFS2 4720 broad.mit.edu 37 1 161172214 161172214 + Silent SNP C C A rs139722814 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:161172214C>A ENST00000392179.4 + 1 278 c.39C>A c.(37-39)gtC>gtA p.V13V NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Silent_p.V13V NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 13 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) TCCGGGGCGTCGCGGCCCAGG 0.662000 4 49 0.014758 0.0150253 1 1 0 ZNF346 23567 broad.mit.edu 37 5 176471400 176471400 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:176471400G>T ENST00000503039.1 + 5 462 c.458G>T c.(457-459)aGa>aTa p.R153I ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000358149.3_Missense_Mutation_p.R128I|ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I Q9UL40 ZN346_HUMAN zinc finger protein 346 128 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAGCAGCAGAAGCAAAGAC 0.522000 30 83 9.17885e-22 1.0317e-21 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 84 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12243221 12243221 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:12243221C>T ENST00000256194.4 + 10 1525 c.1237C>T c.(1237-1239)Cgt>Tgt p.R413C MICAL2_ENST00000342902.5_Missense_Mutation_p.R413C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R413C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R413C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R413C NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 413 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AGGCTGTGCCCGTGGCTTCCT 0.542000 42 109 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992515 67992515 + Missense_Mutation SNP A A T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:67992515A>T ENST00000397942.3 + 2 927 c.611A>T c.(610-612)cAc>cTc p.H204L SOCS6_ENST00000582322.1_Missense_Mutation_p.H204L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 204 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CTGCATCTTCACCTGGATGAA 0.493000 34 55 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136926387 136926387 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:136926387G>A ENST00000359015.4 - 19 2999 c.2639C>T c.(2638-2640)cCa>cTa p.P880L MAP3K5_ENST00000355845.4_Missense_Mutation_p.P127L NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 880 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTCATAAAATGGGGGTTTTCC 0.413000 22 82 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128199967 128199967 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:128199967G>T ENST00000341105.2 - 6 1669 c.1338C>A c.(1336-1338)ttC>ttA p.F446L GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.F446L|GATA2_ENST00000430265.2_Missense_Mutation_p.F432L NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 446 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CGGAGTGGCTGAAGGGCGGGA 0.657000 Mis AML(CML blast transformation) 14 57 3.41278e-10 3.74606e-10 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 84 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77323202 77323202 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:77323202C>T ENST00000282849.5 - 22 3927 c.3509G>A c.(3508-3510)cGa>cAa p.R1170Q RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1170 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R1170L(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATTACAGGCTCGTAGCACCGG 0.502000 52 171 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45525432 45525432 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:45525432G>A ENST00000221452.8 + 5 776 c.626G>A c.(625-627)aGg>aAg p.R209K RELB_ENST00000505236.1_Missense_Mutation_p.R206K|RELB_ENST00000540120.1_Missense_Mutation_p.R209K NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 209 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GGCATCTGCAGGGTGCGGCTC 0.657000 34 54 0 0 1 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13765904 13765904 + Nonsense_Mutation SNP G G T rs147117631 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:13765904G>T ENST00000378106.5 + 1 309 c.190G>T c.(190-192)Gag>Tag p.E64* NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64* NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 64 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CCGGCAGCCCGAGCCGACCAA 0.632000 5 32 0.184627 0.185287 1 1 0 TTBK2 146057 broad.mit.edu 37 15 43038152 43038152 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:43038152G>A ENST00000267890.6 - 15 3684 c.3576C>T c.(3574-3576)ccC>ccT p.P1192P NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1192 Ser-rich. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGAGTGGCTGGGAGGTGACT 0.597000 18 73 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180659709 180659709 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:180659709G>C ENST00000315073.5 + 3 1670 c.960G>C c.(958-960)ctG>ctC p.L320L TRIM41_ENST00000351937.5_Silent_p.L320L NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 320 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGGGCGACTGACACGGTTTC 0.617000 10 30 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48577056 48577056 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:48577056C>A ENST00000262384.3 - 7 2686 c.2450G>T c.(2449-2451)gGa>gTa p.G817V N4BP1_ENST00000565423.1_5'UTR NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 817 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TGAAGGGGCTCCCTGAATCCG 0.642000 3 24 6.4e-05 6.71045e-05 1 1 0 MYO5C 55930 broad.mit.edu 37 15 52537623 52537623 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:52537623G>A ENST00000261839.7 - 18 2267 c.2106C>T c.(2104-2106)ctC>ctT p.L702L MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 702 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCTTGGTCATGAGAATGCCGT 0.498000 16 100 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140289794 140289794 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:140289794G>A ENST00000340951.4 - 2 211 c.16C>T c.(16-18)Ccc>Tcc p.P6S EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.P6S|EXD3_ENST00000465160.2_Missense_Mutation_p.P6S NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 6 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 TCACCAGCGGGATCTCCTGGG 0.657000 10 49 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188592259 188592259 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:188592259G>A ENST00000312675.4 + 11 2077 c.1831G>A c.(1831-1833)Gac>Aac p.D611N LPP_ENST00000543006.1_Missense_Mutation_p.D611N NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 611 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GGCGAGCACTGACCTTTAGAT 0.498000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 7 98 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98819267 98819267 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:98819267G>T ENST00000266058.4 - 11 1280 c.1035C>A c.(1033-1035)atC>atA p.I345I ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I345I|SLIT1_ENST00000371070.4_Silent_p.I345I NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 345 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.I345I(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAATCTCAGCGATCTGATTGT 0.612000 4 68 0.150653 0.152279 1 1 0 DSTYK 25778 broad.mit.edu 37 1 205116748 205116748 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:205116748T>C ENST00000367162.3 - 13 2758 c.2728A>G c.(2728-2730)Atg>Gtg p.M910V DSTYK_ENST00000367160.4_Missense_Mutation_p.M569V|DSTYK_ENST00000367161.3_Missense_Mutation_p.M865V NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 910 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGCCGATTCATGATGCCCTGG 0.498000 85 75 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 102020035 102020035 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:102020035T>G ENST00000354105.4 - 4 315 c.229A>C c.(229-231)Aca>Cca p.T77P NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 77 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) TATTTTACTGTTTCCTGGTTA 0.348000 15 86 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128481 152128481 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152128481G>C ENST00000316073.3 - 3 1158 c.1094C>G c.(1093-1095)tCc>tGc p.S365C NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 365 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTGTAGTGGGAACCCTGGCC 0.473000 192 1599 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:72663998T>G ENST00000425256.1 - 0 902 ATAGCCGGGGTCCTTGAATAC 0.488000 3 61 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2969703 2969703 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:2969703C>T ENST00000396946.4 - 12 1979 c.1576G>A c.(1576-1578)Ggg>Agg p.G526R NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 526 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCTCGTGCCCCTTGGCTGTC 0.602000 Mis DLBCL 11 65 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611673 44611673 + Silent SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:44611673T>C ENST00000273320.3 + 6 1500 c.1071T>C c.(1069-1071)taT>taC p.Y357Y RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.Y357Y NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 ATGACAAATATAAGGAAGTTG 0.383000 26 139 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96498878 96498878 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:96498878C>G ENST00000283109.3 - 10 1614 c.1546G>C c.(1546-1548)Gct>Cct p.A516P CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 516 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CGTCTGACAGCTGATTTTTGC 0.363000 5 42 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52569784 52569784 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:52569784G>A ENST00000389534.4 - 7 1810 c.1351C>T c.(1351-1353)Cat>Tat p.H451Y ZNF841_ENST00000594295.1_Missense_Mutation_p.H451Y|ZNF841_ENST00000359973.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H335Y|ZNF432_ENST00000598446.1_Intron NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 TCTCCAGTATGAATTATCTGG 0.408000 8 30 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619153 64619153 + Missense_Mutation SNP A A T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:64619153A>T ENST00000498707.1 - 14 2512 c.2170T>A c.(2170-2172)Tgc>Agc p.C724S ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C696S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 724 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTTACCCGGCAAAGGCCCTGG 0.488000 15 154 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725468 41725468 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr21:41725468C>T ENST00000400454.1 - 5 1335 c.858G>A c.(856-858)tcG>tcA p.S286S NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 286 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGCCTGAGTCCGAGGGGCGAA 0.527000 14 116 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770225 31770225 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:31770225G>C ENST00000240587.4 - 2 801 c.474C>G c.(472-474)agC>agG p.S158R NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 158 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgccacagctgctgctgctgc 0.622000 7 45 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70867962 70867962 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:70867962C>T ENST00000393567.2 - 79 13657 c.13507G>A c.(13507-13509)Gaa>Aaa p.E4503K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4503 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGAACACTTCCTCAGAGAAG 0.557000 15 49 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723370 21723370 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:21723370G>A ENST00000399496.3 + 3 357 c.192G>A c.(190-192)caG>caA p.Q64Q CABYR_ENST00000581397.1_Silent_p.Q64Q|CABYR_ENST00000415309.2_Silent_p.Q64Q|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Silent_p.Q64Q NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 64 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) AATTTCATCAGATTAAAGGTA 0.289000 7 9 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661040 44661040 + Missense_Mutation SNP G G A rs146772061 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:44661040G>A ENST00000426739.2 + 6 1129 c.871G>A c.(871-873)Gat>Aat p.D291N ZNF234_ENST00000592437.1_Missense_Mutation_p.D291N NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) ATTCAAATGTGATACATGTGG 0.423000 31 199 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240447 3240447 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:3240447G>A ENST00000217939.6 - 5 3433 c.3279C>T c.(3277-3279)atC>atT p.I1093I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1093 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGGCAAAGTGATGGATTTGC 0.488000 16 30 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154076507 154076507 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:154076507G>C ENST00000368559.3 - 13 1871 c.1800C>G c.(1798-1800)gtC>gtG p.V600V NUP210L_ENST00000271854.3_Silent_p.V600V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 600 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GAAGAGTAAAGACTCCTTGTT 0.353000 4 109 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3300970 3300970 + Silent SNP C C G rs61735439 byFrequency TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:3300970C>G ENST00000322608.2 - 1 734 c.735G>C c.(733-735)ctG>ctC p.L245L NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 ACACCACAGACAGGTGGGAGC 0.458000 4 107 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412305 63412305 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:63412305C>T ENST00000330258.3 - 2 1134 c.862G>A c.(862-864)Gaa>Aaa p.E288K AMER1_ENST00000403336.1_Missense_Mutation_p.E288K|AMER1_ENST00000374869.3_Missense_Mutation_p.E288K NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TCCCCTGTTTCTGGGCTATGG 0.562000 24 125 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156085052 156085052 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:156085052G>A ENST00000368300.4 + 1 555 c.343G>A c.(343-345)Gag>Aag p.E115K LMNA_ENST00000361308.4_Missense_Mutation_p.E115K|LMNA_ENST00000368299.3_Missense_Mutation_p.E115K|LMNA_ENST00000368301.2_Missense_Mutation_p.E115K|LMNA_ENST00000347559.2_Missense_Mutation_p.E115K NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 115 Coil 1B.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GGAGTTTAAGGAGCTGAAAGC 0.697000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 12 23 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421180 37421180 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:37421180C>T ENST00000374660.1 + 4 454 c.355C>T c.(355-357)Cca>Tca p.P119S ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P119S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P119S Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 175 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAGCCTCACACCACTTTTACT 0.289000 8 43 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081508 126081508 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:126081508G>C ENST00000298317.4 - 1 79 c.26C>G c.(25-27)tCg>tGg p.S9W FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.S9W NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 9 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CCAGGGGCCCGACGCGCTCCA 0.642000 35 127 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352121 15352121 + RNA SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr21:15352121C>T ENST00000344693.5 - 0 637 NR_027270.1 TGTGGATCTTCTGCAGTTCCG 0.637000 4 47 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159038422 159038422 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:159038422G>T ENST00000368130.4 - 3 620 c.332C>A c.(331-333)tCt>tAt p.S111Y AIM2_ENST00000411768.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 111 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) GATGGCTGCAGATGCAGCAGG 0.418000 18 110 5.35267e-07 5.76283e-07 1 1 0 BCL7B 9275 broad.mit.edu 37 7 72954277 72954277 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:72954277G>T ENST00000223368.2 - 4 794 c.371C>A c.(370-372)gCa>gAa p.A124E BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR NM_001707.3 NP_001698.2 Q9BQE9 BCL7B_HUMAN B-cell CLL/lymphoma 7B 124 actin binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 9 Lung NSC(55;0.0659)|all_lung(88;0.152) GGAGGTGTGTGCTGGGCTCAG 0.602000 4 53 0.184627 0.185287 1 1 0 CYP26C1 340665 broad.mit.edu 37 10 94828376 94828376 + Silent SNP C C T rs140502479 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:94828376C>T ENST00000285949.5 + 6 1491 c.1491C>T c.(1489-1491)atC>atT p.I497I NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 497 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CGGTGCCCATCGTGCACCCAG 0.662000 8 16 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723081 21723081 + Translation_Start_Site SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:21723081G>A ENST00000399496.3 + 2 168 c.3G>A c.(1-3)atG>atA p.M1I CABYR_ENST00000581397.1_Start_Codon_SNP_p.M1I|CABYR_ENST00000415309.2_Start_Codon_SNP_p.M1I|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Start_Codon_SNP_p.M1I NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 1 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CTGCCAAAATGATTTCTTCAA 0.363000 39 88 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98645504 98645504 + Splice_Site SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:98645504G>A ENST00000361125.1 - 11 1352 c.1033C>T c.(1033-1035)Cac>Tac p.H345Y AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Splice_Site_p.H319Y NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 345 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGGCACTGGTGACTTGAGAAG 0.602000 40 130 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52789600 52789600 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:52789600C>T ENST00000216862.3 - 2 690 c.297G>A c.(295-297)atG>atA p.M99I CYP24A1_ENST00000395955.3_Missense_Mutation_p.M99I NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 99 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) AACCCAACTTCATGCGGAAAA 0.632000 17 95 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249711 110249711 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:110249711C>G ENST00000374672.4 - 3 1437 c.964G>C c.(964-966)Gag>Cag p.E322Q NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 322 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 AGCACTTCCTCAAGACCCAGG 0.687000 4 28 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639573 94639573 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:94639573G>A ENST00000260526.6 - 23 3820 c.3638C>T c.(3637-3639)tCa>tTa p.S1213L NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1213 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AGGACAAGCTGATGCTTTGTC 0.537000 28 72 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52756195 52756195 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:52756195C>T ENST00000257901.3 - 7 1213 c.1138G>A c.(1138-1140)Gat>Aat p.D380N KRT85_ENST00000544265.1_Missense_Mutation_p.D168N NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 380 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CAGCGGGCATCGCTGAGGGCC 0.617000 24 87 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34916671 34916671 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:34916671C>T ENST00000304718.4 + 5 803 c.487C>T c.(487-489)Cag>Tag p.Q163* NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 163 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TAAGAGATGTCAGTTGCACTC 0.303000 14 30 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874099 151874099 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:151874099C>G ENST00000355193.2 - 38 8657 c.8439G>C c.(8437-8439)caG>caC p.Q2813H KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2813H lysine (K)-specific methyltransferase 2C TGGATTTTTTCTGTGGTGAAT 0.328000 20 84 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607978 84607978 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:84607978G>C ENST00000344803.2 + 4 2640 c.2593G>C c.(2593-2595)Gag>Cag p.E865Q NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTCTCTTCCTGAGAAATCCCA 0.438000 16 58 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41961591 41961591 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:41961591G>A ENST00000298919.7 + 9 1082 c.694G>A c.(694-696)Gaa>Aaa p.E232K PDZRN4_ENST00000402685.2_Missense_Mutation_p.E492K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E234K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 492 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCAGCTGGATGAAGGCTGGCT 0.398000 11 57 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249346 110249346 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:110249346C>G ENST00000374672.4 - 4 1700 c.1227G>C c.(1225-1227)aaG>aaC p.K409N NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 443 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.K409N(1)|p.K400N(1) breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GATGGGAACTCTTTGTGTAGG 0.592000 61 283 0 0 1 0 0 YAP1 10413 broad.mit.edu 37 11 101981761 101981761 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:101981761C>G ENST00000282441.5 + 1 570 c.182C>G c.(181-183)tCg>tGg p.S61W YAP1_ENST00000537274.1_Missense_Mutation_p.S61W|YAP1_ENST00000531439.1_Missense_Mutation_p.S61W|YAP1_ENST00000345877.2_Missense_Mutation_p.S61W|YAP1_ENST00000526343.1_Missense_Mutation_p.S61W NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 61 cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) CGCGGGGACTCGGAGACCGAC 0.741000 3 25 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117053301 117053301 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:117053301C>G ENST00000368564.1 + 14 1583 c.1435C>G c.(1435-1437)Ctg>Gtg p.L479V KPNA5_ENST00000356348.1_Missense_Mutation_p.L479V O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 476 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TATAACAGGTCTGGATAAAAT 0.244000 13 38 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67522556 67522556 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:67522556G>A ENST00000521381.1 + 2 669 c.53G>A c.(52-54)aGa>aAa p.R18K PIK3R1_ENST00000521657.1_Missense_Mutation_p.R18K|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R18K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R18K NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 18 SH3. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAAAGGAAAGAGAAGAAGAT 0.448000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 30 90 0 0 1 0 0 BANP 54971 broad.mit.edu 37 16 88039797 88039797 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:88039797C>G ENST00000393207.1 + 6 778 c.557C>G c.(556-558)tCt>tGt p.S186C BANP_ENST00000355022.4_Missense_Mutation_p.S155C|BANP_ENST00000538234.1_Missense_Mutation_p.S194C|BANP_ENST00000286122.7_Missense_Mutation_p.S186C|BANP_ENST00000393208.2_Missense_Mutation_p.S155C|BANP_ENST00000355163.5_Missense_Mutation_p.S161C|BANP_ENST00000479780.2_Missense_Mutation_p.S155C NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 186 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) GCCAGCGACTCTGTGTCCAGC 0.662000 17 131 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619154 64619154 + Silent SNP A A C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:64619154A>C ENST00000498707.1 - 14 2511 c.2169T>G c.(2167-2169)ctT>ctG p.L723L ADAMTS9_ENST00000295903.4_Silent_p.L695L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 723 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTACCCGGCAAAGGCCCTGGA 0.488000 15 156 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307816 46307816 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:46307816G>A ENST00000221538.3 - 3 1489 c.1347C>T c.(1345-1347)atC>atT p.I449I RSPH6A_ENST00000600188.1_Silent_p.I185I|RSPH6A_ENST00000597055.1_Silent_p.I449I NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 449 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGGCGTTCACGATCTGGGCTG 0.622000 30 96 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671863 49671863 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:49671863G>A ENST00000561648.1 - 4 1253 c.1200C>T c.(1198-1200)gaC>gaT p.D400D ZNF423_ENST00000567169.1_Silent_p.D283D|ZNF423_ENST00000262383.2_Silent_p.D400D|ZNF423_ENST00000562871.1_Silent_p.D340D|ZNF423_ENST00000562520.1_Silent_p.D340D|ZNF423_ENST00000535559.1_Silent_p.D283D|ZNF423_ENST00000563137.2_Silent_p.D340D NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 400 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGCCCTGCCCGTCATCCCGCA 0.632000 8 67 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062361 76062361 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:76062361G>A ENST00000260045.3 - 5 1938 c.1833C>T c.(1831-1833)gtC>gtT p.V611V NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 611 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 GTTGTCCCATGACTGAGGGTA 0.428000 43 120 0 0 1 0 0 C8orf37 157657 broad.mit.edu 37 8 96275953 96275953 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:96275953C>T ENST00000286688.5 - 2 216 c.205G>A c.(205-207)Gaa>Aaa p.E69K NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 69 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) TCAAGTATTTCATTAATAAGA 0.313000 18 32 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71360261 71360261 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:71360261C>T ENST00000244230.2 + 2 675 c.323C>T c.(322-324)cCa>cTa p.P108L MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.P108L|MPHOSPH10_ENST00000468427.1_3'UTR NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 108 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 AGTCTTCTCCCAGAGAGTGAA 0.408000 9 39 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174253312 174253312 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:174253312C>T ENST00000296503.5 - 5 1422 c.549G>A c.(547-549)aaG>aaA p.K183K HMGB2_ENST00000438704.2_Silent_p.K183K|HMGB2_ENST00000446922.2_Silent_p.K183K P26583 HMGB2_HUMAN high mobility group box 2 183 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) gttcgttcttcttcttTGAGC 0.428000 13 51 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653075 153653075 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153653075G>A ENST00000368680.3 + 2 1292 c.820G>A c.(820-822)Gat>Aat p.D274N NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 274 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTTCCACCTGGATATCTTTGG 0.597000 13 80 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892261 11892261 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:11892261G>A ENST00000357901.4 + 4 1724 c.1622G>A c.(1621-1623)aGg>aAg p.R541K ZNF441_ENST00000454339.2_Missense_Mutation_p.R474K NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAAGGCTTCAGGTCTTCCAGT 0.423000 28 58 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34097869 34097869 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:34097869G>A ENST00000397527.1 + 34 7771 c.7051G>A c.(7051-7053)Gaa>Aaa p.E2351K CEP250_ENST00000342580.4_Missense_Mutation_p.E2295K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2351 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTGTGTGGCTGAACTGCAGAA 0.522000 28 52 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141561491 141561491 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:141561491C>T ENST00000220592.5 - 11 1426 c.1314G>A c.(1312-1314)cgG>cgA p.R438R AGO2_ENST00000519980.1_Silent_p.R438R NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 ACTGCTTGTTCCGCATGTCCC 0.537000 26 144 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162380432 162380432 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:162380432C>G ENST00000306100.5 - 14 2084 c.1648G>C c.(1648-1650)Gac>Cac p.D550H FSTL5_ENST00000379164.4_Missense_Mutation_p.D549H|FSTL5_ENST00000536695.1_Missense_Mutation_p.D549H|FSTL5_ENST00000427802.2_Missense_Mutation_p.D540H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 550 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGTGATTTGTCATAGTGTAAT 0.373000 15 66 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5892002 5892002 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:5892002G>A ENST00000581347.2 - 3 706 c.61C>T c.(61-63)Cca>Tca p.P21S RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P21S A6NKL6 T200C_HUMAN transmembrane protein 200C integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 ATCTGGCTTGGGGGGCGGAGT 0.607000 10 77 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96922768 96922768 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr14:96922768C>T ENST00000267584.4 + 11 1227 c.1183C>T c.(1183-1185)Cac>Tac p.H395Y NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 395 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CAAACTGCATCACATCCAACT 0.393000 29 38 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123062324 123062324 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:123062324G>C ENST00000333479.7 + 31 3004 c.2827G>C c.(2827-2829)Gat>Cat p.D943H KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 943 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AGAAGAGCCAGATCATTCTAA 0.368000 14 50 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671633 92671633 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:92671633G>A ENST00000318445.6 + 7 1640 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.E476K NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 476 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TAATAACTGTGAATGCCAAAC 0.537000 22 127 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50861948 50861948 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:50861948C>T ENST00000359139.3 + 10 1424 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L PPP6R2_ENST00000395741.3_Silent_p.L345L|PPP6R2_ENST00000216061.5_Silent_p.L344L|PPP6R2_ENST00000395744.3_Silent_p.L344L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 344 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GAATGCCCGTCTGCATGGCGC 0.592000 31 64 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53338236 53338236 + Nonsense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:53338236C>A ENST00000607628.1 - 6 704 c.595G>T c.(595-597)Gaa>Taa p.E199* DCP1A_ENST00000294241.6_Nonsense_Mutation_p.E199*|DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000480258.1_5'UTR NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 199 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GGCATTTCTTCTAGAGTCTCG 0.428000 9 74 0.000274275 0.000285449 1 1 0 FPR2 2358 broad.mit.edu 37 19 52272667 52272667 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:52272667C>T ENST00000598776.1 + 2 1528 c.756C>T c.(754-756)atC>atT p.I252I FPR2_ENST00000598953.1_Silent_p.I252I|FPR2_ENST00000340023.6_Silent_p.I252I NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 252 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTTTCTTCATCTGTTGGTTTC 0.483000 7 41 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 4 67 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801295 80801295 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:80801295A>G ENST00000466387.1 + 17 2473 c.1749A>G c.(1747-1749)ccA>ccG p.P583P CTNNA2_ENST00000540488.1_Silent_p.P583P|CTNNA2_ENST00000361291.4_Silent_p.P617P|CTNNA2_ENST00000343114.3_Silent_p.P262P|CTNNA2_ENST00000402739.4_Silent_p.P583P|CTNNA2_ENST00000541047.1_Silent_p.P583P|CTNNA2_ENST00000496558.1_Silent_p.P583P P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 583 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAGTGATGCCACGCTTCGCTG 0.498000 18 80 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34098449 34098449 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:34098449C>T ENST00000361264.4 - 5 1009 c.668G>A c.(667-669)aGa>aAa p.R223K NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 223 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CACATTGTGTCTCGCATCACT 0.502000 13 75 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50857359 50857359 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:50857359C>A ENST00000359139.3 + 7 1076 c.682C>A c.(682-684)Cag>Aag p.Q228K PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q228K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q228K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 228 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCAGGGCAGTCAGCTGCAAGA 0.587000 53 90 1.81118e-26 2.04394e-26 1 1 0 RPTN 126638 broad.mit.edu 37 1 152129395 152129395 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152129395G>C ENST00000316073.3 - 3 244 c.180C>G c.(178-180)ctC>ctG p.L60L NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 60 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTTGATCTAAGAGGTTCAAGA 0.413000 29 195 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5760784 5760784 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:5760784C>A ENST00000425013.2 - 9 1577 c.1353G>T c.(1351-1353)aaG>aaT p.K451N RNF216_ENST00000389902.3_Missense_Mutation_p.K508N NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 451 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGAACATCCTCTTTTCTATTT 0.453000 9 79 0.000274275 0.000285449 1 1 0 S100A1 6271 broad.mit.edu 37 1 153604179 153604179 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153604179G>A ENST00000368698.3 + 4 453 c.306G>A c.(304-306)caG>caA p.Q102Q S100A13_ENST00000368699.1_Intron|S100A1_ENST00000292169.1_Silent_p.Q49Q|S100A1_ENST00000368696.3_3'UTR|RP1-178F15.4_ENST00000607839.1_RNA|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000469931.2_RNA P23297 S10A1_HUMAN S100 calcium binding protein A1 49 intracellular signal transduction|regulation of heart contraction nucleus|protein complex|sarcoplasmic reticulum ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding breast(1)|cervix(1)|lung(2) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Olopatadine(DB00768) CACAGGCCCAGAAGGATGTGG 0.567000 181 443 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52480090 52480090 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:52480090G>T ENST00000219746.9 - 5 1006 c.722C>A c.(721-723)cCc>cAc p.P241H TOX3_ENST00000407228.3_Missense_Mutation_p.P236H NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 241 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TGGAGTCTTGGGCTTCTTGCC 0.448000 6 41 2.0095e-06 2.1389e-06 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777120 18777120 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr9:18777120C>T ENST00000380548.4 + 19 3232 c.2893C>T c.(2893-2895)Cgc>Tgc p.R965C NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 965 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGGAGGCAACCGCAAGCTCGT 0.647000 9 90 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582797 55582797 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:55582797C>T ENST00000361849.3 - 34 5089 c.4695G>A c.(4693-4695)ctG>ctA p.L1565L PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.L1560L|PCDH15_ENST00000395433.1_Silent_p.L1540L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.L1523L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.L1563L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Silent_p.L1494L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1563 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGGGCCCCTCAGAGACTTAC 0.423000 HNSCC(58;0.16) 38 91 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128785 152128785 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152128785G>C ENST00000316073.3 - 3 854 c.790C>G c.(790-792)Caa>Gaa p.Q264E NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 264 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GATTTCTGTTGATTTGTCTGG 0.443000 77 634 0 0 1 0 0 DIABLO 56616 broad.mit.edu 37 12 122710529 122710529 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:122710529G>A ENST00000443649.3 - 2 850 c.33C>T c.(31-33)agC>agT p.S11S DIABLO_ENST00000353548.6_Silent_p.S11S|DIABLO_ENST00000267169.6_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000413918.1_Silent_p.S11S NM_019887.4 NP_063940.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 11 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) ATGAAGTTACGCTGCGCGACA 0.697000 4 13 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45368567 45368567 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:45368567G>A ENST00000252483.5 + 2 128 c.128G>A c.(127-129)cGa>cAa p.R43Q PVRL2_ENST00000252485.4_Missense_Mutation_p.R43Q NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 43 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCCGAGGTGCGAGGCCAGCTC 0.652000 17 95 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512247 127512247 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:127512247G>A ENST00000299130.3 + 1 133 c.121G>A c.(121-123)Gac>Aac p.D41N BCCIP_ENST00000278100.6_Missense_Mutation_p.D41N|BCCIP_ENST00000368759.5_Missense_Mutation_p.D41N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D41N NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 41 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) agacgatgatgacagtgacaa 0.522000 29 53 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29917130 29917130 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:29917130G>A ENST00000308748.5 + 3 1337 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q ASPHD1_ENST00000483405.1_Missense_Mutation_p.R81Q NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 362 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 GATGGGCCTCGAGTGGTCTTC 0.592000 7 61 0 0 1 0 0 GID4 79018 broad.mit.edu 37 17 17962245 17962245 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:17962245G>A ENST00000268719.4 + 4 843 c.670G>A c.(670-672)Gag>Aag p.E224K NM_024052.4 NP_076957.3 GID complex subunit 4 p.E224*(1) TGATTATGAAGAGCTGAAGAA 0.468000 13 44 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128407 152128407 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152128407G>A ENST00000316073.3 - 3 1232 c.1168C>T c.(1168-1170)Cac>Tac p.H390Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 390 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCATAGTGAGAACTCTGA 0.498000 212 1546 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 4 46 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71211889 71211889 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:71211889G>A ENST00000457410.1 + 6 1089 c.950G>A c.(949-951)aGg>aAg p.R317K ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R351K|ANKRD53_ENST00000441349.1_3'UTR|AC007040.11_ENST00000606025.1_Intron Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 351 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CAGCGTTCCAGGAGCTTCCAC 0.632000 OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0 0 1 0 0 RTP4 64108 broad.mit.edu 37 3 187088876 187088876 + Silent SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:187088876C>A ENST00000259030.2 + 2 566 c.456C>A c.(454-456)gcC>gcA p.A152A NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 152 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ATGACACAGCCAATTGTGAGG 0.483000 22 45 2.70639e-06 2.8698e-06 1 1 0 EMD 2010 broad.mit.edu 37 X 153608140 153608140 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:153608140C>G ENST00000369842.4 + 2 461 c.173C>G c.(172-174)tCt>tGt p.S58C EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 58 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCGCCTCCTCTTATAGCTTC 0.667000 21 48 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175722261 175722261 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:175722261C>T ENST00000443967.1 + 5 2010 c.1603C>T c.(1603-1605)Caa>Taa p.Q535* SIMC1_ENST00000429602.2_Nonsense_Mutation_p.Q554*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.Q120*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.Q120* SUMO-interacting motifs containing 1 CATGAAAATTCAACAGTATGA 0.453000 7 16 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 73 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259934 16259934 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:16259934C>A ENST00000375759.3 + 11 7403 c.7199C>A c.(7198-7200)tCt>tAt p.S2400Y NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2400 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCATGTACTTCTGACCTAAGC 0.522000 20 49 4.96729e-08 5.41011e-08 1 1 0 MGAM 8972 broad.mit.edu 37 7 141773904 141773904 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:141773904C>G ENST00000475668.2 + 45 5260 c.5206C>G c.(5206-5208)Ctt>Gtt p.L1736V MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1736 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCCTCTTGGTCTTATTATTGC 0.408000 10 21 0 0 1 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 4 18 0.000602214 0.000624436 1 1 0 CNGB1 1258 broad.mit.edu 37 16 57935322 57935322 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:57935322C>T ENST00000564448.1 - 29 2952 c.2892G>A c.(2890-2892)atG>atA p.M964I CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 970 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TGTCAAAGATCATCTGCCGGT 0.572000 19 132 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200028 128200028 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:128200028G>A ENST00000341105.2 - 6 1608 c.1277C>T c.(1276-1278)tCc>tTc p.S426F GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.S426F|GATA2_ENST00000430265.2_Missense_Mutation_p.S412F NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 426 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) ACTGAAGGGGGATGACTTCTC 0.602000 Mis AML(CML blast transformation) 17 91 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945577 16945577 + RNA SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:16945577C>G ENST00000412962.1 - 0 1942 GCCATCTTCTCAGACTCCTTC 0.612000 56 513 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5284737 5284737 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:5284737G>C ENST00000262477.6 + 17 2648 c.2424G>C c.(2422-2424)caG>caC p.Q808H RABEP1_ENST00000341923.6_Missense_Mutation_p.Q775H|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q808H|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q775H|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q765H NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 808 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 AGAGATTACAGACAGAATTAG 0.408000 12 62 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118343093 118343093 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:118343093C>T ENST00000534358.1 + 3 1242 c.1219C>T c.(1219-1221)Cga>Tga p.R407* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R407*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R407* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CAAAAATATTCGACAGTTCAT 0.443000 37 103 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81592460 81592460 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:81592460G>A ENST00000394660.2 + 14 3153 c.2793G>A c.(2791-2793)caG>caA p.Q931Q IL16_ENST00000394652.2_Silent_p.Q230Q|IL16_ENST00000302987.4_Silent_p.Q931Q NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 931 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AGCCCAATCAGAAAACTCTCC 0.642000 4 67 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128362 152128362 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152128362G>A ENST00000316073.3 - 3 1277 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 405 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTCTCTGTCTGACCATAGTGA 0.512000 210 1651 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241798273 241798273 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:241798273G>A ENST00000366553.1 - 1 959 c.796C>T c.(796-798)Ctt>Ttt p.L266F OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 266 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CGAAATGCAAGAATCCTAGTG 0.358000 15 57 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 134997394 134997394 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:134997394G>A ENST00000304613.3 + 5 547 c.526G>A c.(526-528)Gaa>Aaa p.E176K KNDC1_ENST00000368572.2_Missense_Mutation_p.E176K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E111K Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 176 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction 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) CGCGCTGTGTGAAGAGAAGCT 0.657000 19 112 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231954236 231954236 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:231954236G>A ENST00000439617.2 + 9 2007 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K DISC1_ENST00000366636.4_Missense_Mutation_p.E652K|DISC1_ENST00000366633.3_Missense_Mutation_p.E652K|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.E652K|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.E652K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 652 Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ACTGAGAAGAGAAGTGGAGCA 0.468000 23 95 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28228242 28228242 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:28228242G>A ENST00000343684.3 + 1 1145 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 365 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CAGTGCTGATGAGAAGAGAGC 0.448000 31 120 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598831 153598831 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153598831C>G ENST00000368699.1 - 4 621 c.118G>C c.(118-120)Gag>Cag p.E40Q S100A13_ENST00000392622.1_Missense_Mutation_p.E40Q|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Missense_Mutation_p.E40Q|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000339556.4_Missense_Mutation_p.E40Q|S100A13_ENST00000392623.1_Missense_Mutation_p.E40Q NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 40 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GTAACCAGCTCTTTGAACTCG 0.522000 76 399 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113345005 113345005 + Silent SNP C C T rs150661858 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:113345005C>T ENST00000264852.4 + 24 3090 c.2364C>T c.(2362-2364)ttC>ttT p.F788F SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 788 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGGATTTCTTCGATGACCATG 0.488000 51 186 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90172276 90172276 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:90172276G>A ENST00000394412.3 - 18 3671 c.3595C>T c.(3595-3597)Cgt>Tgt p.R1199C NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1199 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CACATGTAACGGCCCAGTTCC 0.562000 37 67 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134152289 134152289 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:134152289C>G ENST00000452510.2 + 19 2764 c.2606C>G c.(2605-2607)tCt>tGt p.S869C DDX46_ENST00000354283.4_Missense_Mutation_p.S869C NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 869 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCATCGAGTCTCAGGTATTA 0.358000 8 31 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12371683 12371683 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:12371683C>T ENST00000269143.3 - 2 353 c.122G>A c.(121-123)cGa>cAa p.R41Q NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 41 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TGTAACAAATCGGTAAAGCTG 0.348000 14 56 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406314 38406314 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:38406314G>A ENST00000322350.5 + 7 1145 c.799G>A c.(799-801)Gac>Aac p.D267N EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D33N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D267N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 267 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATTTGAAGACGACTTAGATTT 0.453000 10 89 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186505329 186505329 + Missense_Mutation SNP T T G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:186505329T>G ENST00000323963.5 + 9 1019 c.955T>G c.(955-957)Ttc>Gtc p.F319V EIF4A2_ENST00000356531.5_Missense_Mutation_p.F224V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.F320V Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 319 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) CATGAGGGAATTCCGGTCAGG 0.398000 T BCL6 NHL 47 135 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653074 153653074 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153653074G>C ENST00000368680.3 + 2 1291 c.819G>C c.(817-819)ctG>ctC p.L273L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 273 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TCTTCCACCTGGATATCTTTG 0.602000 13 78 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55047547 55047547 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:55047547G>A ENST00000330807.5 - 5 713 c.576C>T c.(574-576)tcC>tcT p.S192S ALAS2_ENST00000396198.3_Silent_p.S179S|ALAS2_ENST00000335854.4_Silent_p.S155S NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 192 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TACACCAGACGGACACATCCT 0.527000 26 22 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851371 43851371 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:43851371G>A ENST00000372769.3 + 2 1188 c.1098G>A c.(1096-1098)caG>caA p.Q366Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 366 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AGGGCATCCAGAAAGGTGTAT 0.388000 39 140 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72307085 72307085 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:72307085G>A ENST00000263563.6 + 18 2413 c.2145G>A c.(2143-2145)ctG>ctA p.L715L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGGTGCAGCTGCTACCCGATG 0.592000 35 221 0 0 1 0 0 TREML1 340205 broad.mit.edu 37 6 41121499 41121499 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:41121499G>T ENST00000373127.4 - 2 421 c.373C>A c.(373-375)Cca>Aca p.P125T TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Missense_Mutation_p.P125T NM_001271807.1 NP_001258736.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 125 calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) AACTCACCTGGGGGCAGTATG 0.612000 18 161 1.99824e-07 2.15963e-07 1 1 0 ADAM11 4185 broad.mit.edu 37 17 42855382 42855382 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:42855382C>T ENST00000200557.6 + 24 2302 c.2133C>T c.(2131-2133)atC>atT p.I711I ADAM11_ENST00000535346.1_Silent_p.I511I NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 711 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) ACTGCAGTATCCATAACCCCC 0.612000 92 181 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21713389 21713389 + Splice_Site SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:21713389A>G ENST00000358491.4 + 3 338 c.e3-1 ZNF429_ENST00000594022.1_Splice_Site|ZNF429_ENST00000597078.1_Splice_Site NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TTAATAAAACAGGTATTGCTG 0.333000 12 52 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 87217666 87217666 + Splice_Site SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:87217666C>T ENST00000441037.2 + 22 3177 c.3082C>T c.(3082-3084)Cga>Tga p.R1028* AGBL1_ENST00000389298.3_Splice_Site_p.R759*|AGBL1_ENST00000421325.2_Splice_Site_p.R1028* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1028 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCACCTCCAACGGTAAGATGC 0.532000 14 15 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79985563 79985563 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:79985563C>T ENST00000306688.3 + 8 1189 c.847C>T c.(847-849)Cgt>Tgt p.R283C NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 283 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GTCGGCAGCCCGTGTAGGGCA 0.607000 5 24 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3414972 3414972 + Silent SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:3414972G>C ENST00000356575.4 - 26 3541 c.3315C>G c.(3313-3315)ctC>ctG p.L1105L MEGF6_ENST00000294599.4_Silent_p.L914L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1105 EGF-like 20. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CGGCTGGGCAGAGGCAGCGGC 0.711000 9 7 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908332 103908332 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:103908332C>T ENST00000302259.3 + 1 1025 c.782C>T c.(781-783)tCg>tTg p.S261L PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 261 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTTGTTGACTCGGGCGCCCAG 0.527000 40 123 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142188196 142188196 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:142188196T>C ENST00000350721.4 - 38 6656 c.6535A>G c.(6535-6537)Atg>Gtg p.M2179V ATR_ENST00000383101.3_Missense_Mutation_p.M2115V|RP11-383G6.3_ENST00000460977.1_RNA NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2179 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACAGCTGTCATCATCCACATT 0.318000 Other conserved DNA damage response genes 22 82 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 12 0.004672 0.00480891 1 1 0 ABCA4 24 broad.mit.edu 37 1 94574256 94574256 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:94574256G>A ENST00000370225.3 - 4 405 c.319C>T c.(319-321)Cga>Tga p.R107* ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R107* NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 107 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGAAAATCTCGATATACCCTT 0.388000 25 54 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112757 81112757 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:81112757C>T ENST00000228644.3 + 3 847 c.695C>T c.(694-696)cCa>cTa p.P232L NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 232 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TCTCTCTCTCCAGTTGCCAGC 0.488000 24 75 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91341440 91341440 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:91341440G>A ENST00000355112.3 + 17 3349 c.3231G>A c.(3229-3231)gtG>gtA p.V1077V BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V1077V NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1077 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CAAGAGATGTGACTGACGATG 0.294000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 10 50 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 5 87 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72428448 72428448 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:72428448C>G ENST00000477973.2 - 2 553 c.554G>C c.(553-555)gGa>gCa p.G185A NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein Interaction with E4TF1B.|Ser-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GGACTAATTTCCTTGTCTTTC 0.388000 15 145 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132249921 132249921 + Missense_Mutation SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:132249921A>G ENST00000260818.6 + 55 6853 c.6605A>G c.(6604-6606)cAa>cGa p.Q2202R NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2202 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TCTGAGTCACAAACAGCAGGA 0.423000 25 71 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145594092 145594092 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:145594092C>T ENST00000334163.3 - 14 1630 c.1470G>A c.(1468-1470)atG>atA p.M490I POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 490 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GAGCTGTGATCATCTCCTCTA 0.443000 37 170 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193795 28193795 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:28193795C>T ENST00000302326.4 - 1 3691 c.2737G>A c.(2737-2739)Ggg>Agg p.G913R NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 913 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTGCCGTCCCCCTGGGCTGGA 0.741000 T ETV6 """AML, meningioma""" 7 24 0 0 1 0 0 FAM63A 55793 broad.mit.edu 37 1 150970638 150970638 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:150970638G>A ENST00000361936.5 - 9 2047 c.1093C>T c.(1093-1095)Cac>Tac p.H365Y FAM63A_ENST00000361738.6_Missense_Mutation_p.H413Y|FAM63A_ENST00000493834.2_Missense_Mutation_p.H270Y|FAM63A_ENST00000312210.5_Missense_Mutation_p.H223Y NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 365 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGACTCAGGTGAAAGTCAGAG 0.562000 106 227 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63195969 63195969 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:63195969C>A ENST00000399298.3 - 2 597 c.229G>T c.(229-231)Gtt>Ttt p.V77F TMEM26_ENST00000399293.1_Missense_Mutation_p.V77F NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 77 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AATGATGGAACGATGCTAATC 0.323000 19 23 1.00905e-13 1.12517e-13 1 1 0 TRIP13 9319 broad.mit.edu 37 5 893166 893166 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:893166C>T ENST00000166345.3 + 1 409 c.53C>T c.(52-54)tCg>tTg p.S18L NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 18 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GTGGCCGAGTCGCCAACGGTC 0.731000 4 24 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971040 118971040 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:118971040C>A ENST00000409993.2 - 6 2126 c.575G>T c.(574-576)gGc>gTc p.G192V DPAGT1_ENST00000432443.2_Missense_Mutation_p.G85V|DPAGT1_ENST00000354202.4_Missense_Mutation_p.G192V Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 192 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGCCTCTAGGCCGTTAATTCC 0.507000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 106 1.67305e-13 1.85821e-13 1 1 0 PPP1R9B 84687 broad.mit.edu 37 17 48213403 48213403 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:48213403G>A ENST00000316878.6 - 10 2229 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 743 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TACTGCGCCTGAGTCTCCCGC 0.642000 8 22 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91346861 91346861 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:91346861G>A ENST00000355112.3 + 18 3587 c.3469G>A c.(3469-3471)Gaa>Aaa p.E1157K BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1157 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GATTTTGGATGAAGACTTATA 0.358000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 41 51 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549209 44549209 + Nonsense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr18:44549209C>A ENST00000451265.1 - 1 1325 c.1090G>T c.(1090-1092)Gaa>Taa p.E364* KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 AGAACGGGTTCAAGAACCGAG 0.612000 32 771 6.00712e-18 6.72511e-18 1 1 0 TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:7577090C>G ENST00000420246.2 - 8 980 c.848G>C c.(847-849)cGc>cCc p.R283P TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 283 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCCTCTGTGCGCCGGTCTCT 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 46 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151130 145151130 + Nonsense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:145151130G>T ENST00000318911.4 + 3 503 c.430G>T c.(430-432)Gaa>Taa p.E144* NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 144 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACGGAGGATGAAGCTAAGGA 0.627000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 328 3.2641e-12 3.61107e-12 1 1 0 ABCA12 26154 broad.mit.edu 37 2 216002880 216002880 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:216002880C>T ENST00000272895.7 - 1 271 c.52G>A c.(52-54)Ggt>Agt p.G18S ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 18 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTTTACACCTAGCCAATTT 0.438000 6 228 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93839183 93839183 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:93839183C>T ENST00000315765.9 + 17 2940 c.2932C>T c.(2932-2934)Ctc>Ttc p.L978F NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 978 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTTTGGGAATCTCCATGGCCT 0.338000 12 35 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588591 153588591 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:153588591G>A ENST00000422373.1 - 22 3820 c.3572C>T c.(3571-3573)gCg>gTg p.A1191V FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1191 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTCAGCTCCGCGCTGCCCGC 0.642000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 68 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945508 16945508 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:16945508C>A ENST00000412962.1 - 0 2011 TTCTGCCGCTCCATCTCCAGG 0.637000 24 360 1.9806e-07 2.14883e-07 1 1 0 PRPF3 9129 broad.mit.edu 37 1 150325454 150325454 + Nonstop_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:150325454G>C ENST00000324862.6 + 16 2216 c.2051G>C c.(2050-2052)tGa>tCa p.*684S PRPF3_ENST00000414970.2_Nonstop_Mutation_p.*635S|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 0 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TCCACTGATTGAGACTACTGC 0.493000 35 121 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458116 20458116 + Silent SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:20458116C>G ENST00000426804.1 - 1 3670 c.3186G>C c.(3184-3186)cgG>cgC p.R1062R NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCAGCAAGTCCCGTGGCAGCC 0.662000 10 35 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20691172 20691172 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:20691172G>A ENST00000404938.2 + 13 2114 c.1462G>A c.(1462-1464)Gat>Aat p.D488N ABCB5_ENST00000406935.1_Missense_Mutation_p.D43N|ABCB5_ENST00000443026.2_Missense_Mutation_p.D43N|ABCB5_ENST00000258738.6_Missense_Mutation_p.D43N|ABCB5_ENST00000477094.1_3'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 43 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TGGACGAGATGATGTGACTGA 0.438000 27 161 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587548 110587548 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:110587548C>T ENST00000399066.3 - 6 2297 c.1570G>A c.(1570-1572)Gac>Aac p.D524N SYBU_ENST00000529175.1_Missense_Mutation_p.D321N|SYBU_ENST00000424158.2_Missense_Mutation_p.D532N|SYBU_ENST00000532779.1_Missense_Mutation_p.D459N|SYBU_ENST00000419099.1_Missense_Mutation_p.D526N|SYBU_ENST00000440310.1_Missense_Mutation_p.D527N|SYBU_ENST00000408889.3_Missense_Mutation_p.D408N|SYBU_ENST00000422135.1_Missense_Mutation_p.D527N|SYBU_ENST00000533065.1_Missense_Mutation_p.D408N|SYBU_ENST00000408908.2_Missense_Mutation_p.D527N|SYBU_ENST00000528647.1_Missense_Mutation_p.D526N|SYBU_ENST00000528331.1_Missense_Mutation_p.D408N|SYBU_ENST00000533171.1_Missense_Mutation_p.D527N|SYBU_ENST00000533895.1_Missense_Mutation_p.D526N|SYBU_ENST00000446070.2_Missense_Mutation_p.D526N|SYBU_ENST00000529690.1_Missense_Mutation_p.D397N|SYBU_ENST00000276646.9_Missense_Mutation_p.D527N|SYBU_ENST00000433638.1_Missense_Mutation_p.D527N NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 527 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCCATCGAGTCTGGTTCAGAC 0.557000 23 69 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44585253 44585253 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:44585253G>A ENST00000421176.3 + 3 317 c.101G>A c.(100-102)cGa>cAa p.R34Q ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AAGCTGTATCGAGATGTCATG 0.532000 27 174 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101853645 101853645 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:101853645G>C ENST00000348070.1 - 21 2631 c.2632C>G c.(2632-2634)Cca>Gca p.P878A PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.P865A NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 879 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCACAGGCTGGCACACACTTC 0.572000 8 99 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35695204 35695204 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:35695204C>G ENST00000373664.3 - 6 835 c.769G>C c.(769-771)Gat>Cat p.D257H RBL1_ENST00000344359.3_Missense_Mutation_p.D257H NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 257 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAAGTCCATCATGCAGTTCA 0.393000 25 74 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2955833 2955833 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:2955833C>T ENST00000380520.1 - 2 2231 c.237G>A c.(235-237)gtG>gtA p.V79V SERPINB6_ENST00000335686.5_Silent_p.V79V|SERPINB6_ENST00000380546.3_Silent_p.V79V|SERPINB6_ENST00000380529.1_Silent_p.V79V|SERPINB6_ENST00000380539.1_Silent_p.V79V|SERPINB6_ENST00000380524.1_Silent_p.V79V P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 79 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CAGTCTTGTTCACTTCGGTGA 0.433000 35 87 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387865 46387865 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:46387865C>T ENST00000302165.3 - 1 1511 c.1168G>A c.(1168-1170)Gag>Aag p.E390K NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCAGCCGCCTCGCCCTCCGGC 0.751000 4 42 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102483277 102483277 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:102483277T>C ENST00000369138.1 + 14 2637 c.2147T>C c.(2146-2148)gTg>gCg p.V716A GRIK2_ENST00000413795.1_Missense_Mutation_p.V716A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V667A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V716A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V640A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V716A NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 716 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCAGTCAGTGCTGGTCAAA 0.408000 40 145 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268509 21268509 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:21268509C>T ENST00000602326.1 - 12 1571 c.988G>A c.(988-990)Gac>Aac p.D330N EIF4G3_ENST00000374937.3_Missense_Mutation_p.D330N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D324N|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D324N|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D324N|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D335N NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 324 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.D324Y(1)|p.D330Y(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGTAAAGGGTCTGATGTTTCT 0.388000 73 186 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236766649 236766649 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:236766649C>G ENST00000366582.3 - 3 284 c.170G>C c.(169-171)gGa>gCa p.G57A HEATR1_ENST00000366581.2_Missense_Mutation_p.G57A|HEATR1_ENST00000366579.1_Missense_Mutation_p.G57A NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 57 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGATCAATTCCAAGCAACTC 0.408000 13 50 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675142 81675142 + Nonsense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:81675142G>A ENST00000550584.2 - 26 3401 c.3106C>T c.(3106-3108)Cag>Tag p.Q1036* PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q222*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q572*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1021*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q883*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1036*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1015*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1030*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q931*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q935* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 935 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTTCTGTACTGAGGTAACCCC 0.388000 14 73 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37319265 37319265 + Missense_Mutation SNP G G A rs142974275 byFrequency TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:37319265G>A ENST00000373091.3 - 8 1179 c.1163C>T c.(1162-1164)aCg>aTg p.T388M GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 388 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ATCAAAATCCGTCCGCAAGCC 0.547000 20 60 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959431 45959431 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr21:45959431G>T ENST00000400375.1 - 1 647 c.603C>A c.(601-603)ccC>ccA p.P201P TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 201 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CAGAGCAGACGGGCACACAGC 0.662000 104 227 2.32228e-54 2.6313e-54 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C rs75392608 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr17:39262083A>C ENST00000391415.1 + 1 500 c.443A>C c.(442-444)aAc>aCc p.N148T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgccagcccaactgctgccgc 0.667000 4 37 0 0 1 0 0 C20orf141 128653 broad.mit.edu 37 20 2796220 2796220 + Silent SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:2796220C>A ENST00000380589.4 + 2 471 c.297C>A c.(295-297)ctC>ctA p.L99L C20orf141_ENST00000603872.1_Silent_p.L99L|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000554164.1_Intron NM_080739.2 NP_542777.1 Q9NUB4 CT141_HUMAN chromosome 20 open reading frame 141 99 Leu-rich. integral to membrane endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 10 GCAAACTTCTCACCAGGGGCC 0.612000 5 59 1.23904e-05 1.30401e-05 1 1 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 63 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117617594 117617594 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:117617594G>A ENST00000369466.4 + 5 432 c.388G>A c.(388-390)Gac>Aac p.D130N NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CAAGGTACTTGACAAGAATCA 0.408000 20 67 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26168458 26168458 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr22:26168458C>T ENST00000335473.7 + 7 2100 c.1850C>T c.(1849-1851)tCg>tTg p.S617L MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 617 Myosin head-like. 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 CGGGGGCCCTCGGTGCCTTCT 0.642000 24 34 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45986918 45986918 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:45986918C>T ENST00000257821.4 - 9 1567 c.944G>A c.(943-945)aGa>aAa p.R315K PHF21A_ENST00000323180.6_Missense_Mutation_p.R315K|PHF21A_ENST00000418153.2_Missense_Mutation_p.R314K|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 314 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TCCAGCGAGTCTGGTCCCTGG 0.537000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 35 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145035857 145035857 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:145035857C>T ENST00000360771.4 - 6 536 c.421G>A c.(421-423)Gaa>Aaa p.E141K GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000535709.1_Missense_Mutation_p.E115K NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 141 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTTTCTATTTCAACAGAACTT 0.353000 8 31 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145594124 145594124 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:145594124C>G ENST00000334163.3 - 14 1598 c.1438G>C c.(1438-1440)Gag>Cag p.E480Q POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 480 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGTGCTTCCTCTGCACCAGTA 0.443000 30 148 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27327301 27327301 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:27327301A>G ENST00000404694.3 - 1 304 c.300T>C c.(298-300)tgT>tgC p.C100C CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Intron Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 0 EF-hand 1. cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCGTGTCACAGATGGGCT 0.542000 4 16 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406338 38406338 + Missense_Mutation SNP G G C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr5:38406338G>C ENST00000322350.5 + 7 1169 c.823G>C c.(823-825)Gag>Cag p.E275Q EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 275 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TATTTCCTTTGAGGAGGTAAC 0.428000 4 70 0 0 1 0 0 TPM3 7170 broad.mit.edu 37 1 154163692 154163692 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:154163692C>T ENST00000368530.2 - 2 405 c.213G>A c.(211-213)aaG>aaA p.K71K TPM3_ENST00000271850.7_Silent_p.K71K NM_152263.2 NP_689476.2 P06753 TPM3_HUMAN tropomyosin 3 70 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCAGTTCCAGCTTCTCCTGGG 0.448000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 76 104 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93839273 93839273 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:93839273C>G ENST00000315765.9 + 17 3030 c.3022C>G c.(3022-3024)Cat>Gat p.H1008D NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 1008 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CATCCATTATCATGCTGAGAG 0.358000 19 56 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859826 43859826 + RNA SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:43859826G>A ENST00000378009.4 + 0 435 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAGGATCCTTGAGGTGCCCAG 0.557000 36 76 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127533 152127533 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152127533G>A ENST00000316073.3 - 3 2106 c.2042C>T c.(2041-2043)tCa>tTa p.S681L NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 681 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTACTGCATGATTGCCAGTC 0.532000 44 335 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27755387 27755387 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:27755387G>A ENST00000430629.2 - 2 229 c.14C>T c.(13-15)aCg>aTg p.T5M WASF2_ENST00000536657.1_Missense_Mutation_p.T5M NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 5 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GATGTTCCTCGTTACTAACGG 0.473000 15 62 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153652193 153652193 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153652193G>T ENST00000368680.3 + 1 1081 c.609G>T c.(607-609)ctG>ctT p.L203L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 203 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TGGAGGGGCTGTTCATGCGGG 0.667000 4 24 0.00909568 0.00932805 1 1 0 CADPS 8618 broad.mit.edu 37 3 62860633 62860633 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:62860633G>A ENST00000383710.4 - 1 421 c.72C>T c.(70-72)ctC>ctT p.L24L CADPS_ENST00000490353.2_Silent_p.L24L|CADPS_ENST00000283269.9_Silent_p.L24L|CADPS_ENST00000357948.3_Silent_p.L24L NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 24 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) GGGCCGAGCCGAGCACCTCCT 0.741000 6 12 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841921 208841921 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr2:208841921T>C ENST00000457206.1 - 3 1427 c.1000A>G c.(1000-1002)Aca>Gca p.T334A PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T334A|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.T334A Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 334 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGATTCTGTGTATAGTCATCA 0.517000 13 105 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:44664045C>G ENST00000222673.5 + 2 145 c.103C>G c.(103-105)Caa>Gaa p.Q35E OGDH_ENST00000449767.1_Missense_Mutation_p.Q35E|OGDH_ENST00000444676.1_Missense_Mutation_p.Q35E|OGDH_ENST00000443864.2_Missense_Mutation_p.Q35E|OGDH_ENST00000439616.2_Missense_Mutation_p.Q35E|OGDH_ENST00000447398.1_Missense_Mutation_p.Q35E NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.Q35K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468000 87 161 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153653103 153653103 + Missense_Mutation SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:153653103G>T ENST00000368680.3 + 2 1320 c.848G>T c.(847-849)gGa>gTa p.G283V NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 283 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CTGCAAGGTGGACAGGGCCCT 0.612000 6 81 0.248553 0.248553 1 1 0 MIR1323 100302255 broad.mit.edu 37 19 54175252 54175252 + RNA SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:54175252C>A ENST00000408090.1 + 0 31 NR_031568.1 GGGGCATTTTCTGTGGTTTGA 0.483000 5 81 0.014758 0.0150253 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65268705 65268705 + RNA SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:65268705G>T ENST00000534336.1 + 0 3473 NR_002819.2 ATTTTTTTTTGTGGGGGTGGG 0.393000 7 33 1.12685e-05 1.19039e-05 1 1 0 FLNA 2316 broad.mit.edu 37 X 153588592 153588592 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chrX:153588592C>G ENST00000422373.1 - 22 3819 c.3571G>C c.(3571-3573)Gcg>Ccg p.A1191P FLNA_ENST00000360319.4_Missense_Mutation_p.A1191P|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191P|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1191 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCAGCTCCGCGCTGCCCGCG 0.642000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 66 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568298 7568298 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:7568298C>T ENST00000340209.4 + 2 489 c.192C>T c.(190-192)ccC>ccT p.P64P RBFOX1_ENST00000355637.4_Silent_p.P79P|RBFOX1_ENST00000547372.1_Silent_p.P102P|RBFOX1_ENST00000436368.2_Silent_p.P79P|RBFOX1_ENST00000422070.4_Silent_p.P102P|RBFOX1_ENST00000311745.5_Silent_p.P79P|RBFOX1_ENST00000547338.1_Silent_p.P59P|RBFOX1_ENST00000550418.1_Silent_p.P59P|RBFOX1_ENST00000552089.1_Silent_p.P95P|RBFOX1_ENST00000553186.1_Silent_p.P59P|RBFOX1_ENST00000535565.2_Silent_p.P95P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 59 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCACGGTTCCCGAGCACACAT 0.657000 57 171 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174253275 174253275 + Missense_Mutation SNP C C T rs17849374 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:174253275C>T ENST00000296503.5 - 5 1459 c.586G>A c.(586-588)Gaa>Aaa p.E196K HMGB2_ENST00000438704.2_Missense_Mutation_p.E196K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E196K P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) tcatcttcttcttcctcctcc 0.468000 16 66 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128200119 128200119 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr3:128200119G>A ENST00000341105.2 - 6 1517 c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.R396W|GATA2_ENST00000430265.2_Missense_Mutation_p.R382W NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 396 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TTCCGGTTCCGAGTCTGGATC 0.537000 Mis AML(CML blast transformation) 21 107 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71067186 71067186 + Nonsense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr4:71067186C>T ENST00000396094.2 + 7 592 c.544C>T c.(544-546)Caa>Taa p.Q182* NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 182 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 ATTCTATGCTCAATTTGGATA 0.259000 6 16 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155234288 155234288 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:155234288C>G ENST00000368361.4 - 10 1432 c.1117G>C c.(1117-1119)Gaa>Caa p.E373Q CLK2_ENST00000361168.5_Missense_Mutation_p.E372Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E373Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.E371Q P49760 CLK2_HUMAN CDC-like kinase 2 373 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACATAGTATTCAAAGATGATG 0.493000 Other conserved DNA damage response genes 12 58 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599891 29599891 + Silent SNP A A G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr13:29599891A>G ENST00000431530.3 + 1 1144 c.1086A>G c.(1084-1086)gcA>gcG p.A362A NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 352 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GTGGGGAAGCACACCCGGAAG 0.567000 6 77 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17127619 17127619 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:17127619T>C ENST00000377833.4 - 16 2152 c.2087A>G c.(2086-2088)cAt>cGt p.H696R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 696 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTAGGTGATATGGAAGCCTTG 0.443000 16 144 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35423591 35423591 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:35423591C>T ENST00000229769.2 + 2 501 c.316C>T c.(316-318)Cgg>Tgg p.R106W NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 106 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 GATGGCCGTTCGGCCATCGCT 0.607000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 108 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20418703 20418703 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:20418703C>T ENST00000222573.4 + 4 1102 c.418C>T c.(418-420)Cat>Tat p.H140Y ITGB8_ENST00000537992.1_Missense_Mutation_p.H5Y NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCTGAAAGTTCATCCTCTGAA 0.303000 13 68 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140627 3140627 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:3140627C>T ENST00000252463.2 - 5 730 c.643G>A c.(643-645)Gac>Aac p.D215N ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.D133N|ZSCAN10_ENST00000572548.1_3'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 215 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TCCTCCTTGTCTGGGGTTCTG 0.557000 10 47 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129107265 129107265 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:129107265C>G ENST00000249344.2 + 17 1891 c.1851C>G c.(1849-1851)atC>atG p.I617M STRIP2_ENST00000435494.2_Missense_Mutation_p.I617M NM_020704.2 NP_065755.1 striatin interacting protein 2 ATCAAAATATCTTGTCATACA 0.383000 9 31 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566481 56566481 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr12:56566481G>A ENST00000394023.3 - 19 1856 c.1751C>T c.(1750-1752)tCt>tTt p.S584F SMARCC2_ENST00000347471.4_Missense_Mutation_p.S584F|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S553F|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S584F NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 553 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTGGGAAGCAGAGGTCTGCTA 0.463000 36 106 0 0 1 0 0 SEPT1 1731 broad.mit.edu 37 16 30393431 30393431 + Missense_Mutation SNP T T C TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr16:30393431T>C ENST00000321367.3 - 4 350 c.305A>G c.(304-306)cAg>cGg p.Q102R SEPT1_ENST00000605106.1_Missense_Mutation_p.Q60R|SEPT1_ENST00000571393.1_Missense_Mutation_p.Q55R NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 55 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) CTCTGGCACCTGGCGATCCTC 0.587000 6 10 0 0 1 0 0 SMOX 54498 broad.mit.edu 37 20 4162527 4162527 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr20:4162527C>T ENST00000305958.4 + 4 738 c.513C>T c.(511-513)ttC>ttT p.F171F SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Silent_p.F171F|SMOX_ENST00000339123.6_Silent_p.F171F|SMOX_ENST00000379460.2_Silent_p.F171F|SMOX_ENST00000484515.1_3'UTR NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 171 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) TGGGGGTGTTCACCCGAGAGG 0.542000 22 116 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74290715 74290715 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr15:74290715C>G ENST00000565898.1 + 2 584 c.500C>G c.(499-501)gCa>gGa p.A167G PML_ENST00000569965.1_Missense_Mutation_p.A167G|PML_ENST00000268058.3_Missense_Mutation_p.A167G|PML_ENST00000569477.1_Missense_Mutation_p.A167G|PML_ENST00000564428.1_Missense_Mutation_p.A167G|PML_ENST00000395132.2_Missense_Mutation_p.A167G|PML_ENST00000563500.1_Missense_Mutation_p.A167G|PML_ENST00000268059.6_Missense_Mutation_p.A167G|PML_ENST00000435786.2_Missense_Mutation_p.A167G|PML_ENST00000436891.3_Missense_Mutation_p.A167G|PML_ENST00000567543.1_Missense_Mutation_p.A167G|PML_ENST00000395135.3_Missense_Mutation_p.A167G|PML_ENST00000354026.6_Missense_Mutation_p.A167G|PML_ENST00000359928.4_Missense_Mutation_p.A167G P29590 PML_HUMAN promyelocytic leukemia 167 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CGGCCCCTAGCAGAGCTGCGC 0.632000 T """RARA, PAX5""" """APL, ALL""" 8 55 0 0 1 0 0 FOXA3 3171 broad.mit.edu 37 19 46375759 46375759 + Missense_Mutation SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:46375759C>T ENST00000302177.2 + 2 693 c.496C>T c.(496-498)Cgc>Tgc p.R166C NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 166 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) GAACTCCATTCGCCACTCGCT 0.587000 36 121 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747380 62747380 + Silent SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr11:62747380G>A ENST00000377871.3 - 7 1344 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L SLC22A6_ENST00000360421.4_Silent_p.L360L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.L360L|SLC22A6_ENST00000458333.2_Silent_p.L360L NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 360 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AAGCCCTGCAGGTCCATGACC 0.517000 17 65 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39678687 39678687 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr8:39678687C>G ENST00000265708.4 - 6 450 c.347G>C c.(346-348)gGc>gCc p.G116A ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.G116A|ADAM2_ENST00000347580.4_Missense_Mutation_p.G116A|ADAM2_ENST00000521880.1_Missense_Mutation_p.G116A NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 116 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTGTAGTACGCCCCTAAAAAT 0.313000 5 2 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593069 7593069 + Missense_Mutation SNP G G A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:7593069G>A ENST00000264079.6 + 7 928 c.803G>A c.(802-804)aGt>aAt p.S268N NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 268 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAAGCACACAGTGGGCGGATC 0.617000 37 123 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152130234 152130234 + Silent SNP G G T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:152130234G>T ENST00000316073.3 - 2 196 c.132C>A c.(130-132)atC>atA p.I44I NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 44 EF-hand 1.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTACCTGGAGGATGTCTCCAA 0.463000 13 71 6.72482e-11 7.41049e-11 1 1 0 EMC1 23065 broad.mit.edu 37 1 19547319 19547319 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr1:19547319delG ENST00000477853.1 - 21 2653 c.2611delC c.(2611-2613)cttfs p.L871fs EMC1_ENST00000375208.3_Frame_Shift_Del_p.L849fs|EMC1_ENST00000375199.3_Frame_Shift_Del_p.L870fs|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 GGAAGGGAAAGAATTGCTCCA 0.512 23 59 --- --- --- --- MXD3 83463 broad.mit.edu 37 5 176738408 176738408 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr5:176738408delG ENST00000427908.2 - 2 215 c.148delC c.(148-150)cagfs p.Q50fs MXD3_ENST00000439742.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000423571.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000513063.1_Frame_Shift_Del_p.Q50fs NM_001142935.1 NP_001136407.1 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGAGCCTGGGGGGGTCGC 0.746 2 4 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gaafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1|NM_001281440.1 NP_001037770.1|NP_001268369.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 3 6 --- --- --- --- C5 727 broad.mit.edu 37 9 123742477 123742477 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr9:123742477delG ENST00000223642.1 - 28 3571 c.3542delC c.(3541-3543)ccafs p.P1181fs NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1181 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GCTCTGGGCTGGCAGTGTATT 0.418 15 72 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895642 124895642 + Frame_Shift_Del DEL C C - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr10:124895642delC ENST00000357878.5 + 1 165 c.76delC c.(76-78)cccfs p.P26fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 26 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CCCACCCGCTCCCAAGGAGTC 0.746 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48951092 48951093 + Frame_Shift_Ins INS - - G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr13:48951092_48951093insG ENST00000267163.4 + 13 1392_1393 c.1254_1255insG c.(1255-1257)gtgfs p.V419fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 419 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACTGAAAAGAGTGAAGGATAT 0.342 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 33 45 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggcfs p.G632fs SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 7 455 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gagcag>gag p.Q912del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 912 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 2 4 --- --- --- --- ZNF85 7639 broad.mit.edu 37 19 21131995 21131995 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr19:21131995delG ENST00000601023.1 + 2 1144 c.498delG c.(496-498)acgfs p.T166fs ZNF85_ENST00000328178.8_Frame_Shift_Del_p.T225fs|ZNF85_ENST00000345030.6_Frame_Shift_Del_p.T192fs Q03923 ZNF85_HUMAN zinc finger protein 85 225 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAATTCATACGGGAGAGAAAC 0.348 21 51 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 8 2 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044299 33044310 + In_Frame_Del DEL GCTGTGGCTGCT GCTGTGGCTGCT - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 24fce45b-11cf-4981-822b-e78dd3e8d746 g.chr21:33044299_33044310delGCTGTGGCTGCT ENST00000286835.7 - 20 3228_3239 c.2846_2857delAGCAGCCACAGC c.(2845-2859)cagcagccacagccg>ccg p.QQPQ949del SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 949 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ggcgcctgcggctgtggctgctgctgtggctg 0.651 21 93 --- --- --- --- EMC1 23065 broad.mit.edu 37 1 19547319 19547319 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:19547319delG ENST00000477853.1 - 21 2653 c.2611delC c.(2611-2613)cttfs p.L871fs EMC1_ENST00000375208.3_Frame_Shift_Del_p.L849fs|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Frame_Shift_Del_p.L870fs NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 GGAAGGGAAAGAATTGCTCCA 0.512 23 59 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)aagdel p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 7 232 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gaafs p.E169fs SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs NM_001044305.1|NM_001281440.1 NP_001037770.1|NP_001268369.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 3 6 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 2 4 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895642 124895642 + Frame_Shift_Del DEL C C - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr10:124895642delC ENST00000357878.5 + 1 165 c.76delC c.(76-78)cccfs p.P26fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 26 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CCCACCCGCTCCCAAGGAGTC 0.746 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48951092 48951093 + Frame_Shift_Ins INS - - G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr13:48951092_48951093insG ENST00000267163.4 + 13 1392_1393 c.1254_1255insG c.(1255-1257)gtgfs p.V419fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 419 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACTGAAAAGAGTGAAGGATAT 0.342 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 33 45 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gagcag>gag p.Q912del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 912 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 2 4 --- --- --- --- ZNF85 7639 broad.mit.edu 37 19 21131995 21131995 + Frame_Shift_Del DEL G G - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr19:21131995delG ENST00000601023.1 + 2 1144 c.498delG c.(496-498)acgfs p.T166fs ZNF85_ENST00000345030.6_Frame_Shift_Del_p.T192fs|ZNF85_ENST00000328178.8_Frame_Shift_Del_p.T225fs Q03923 ZNF85_HUMAN zinc finger protein 85 225 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAATTCATACGGGAGAGAAAC 0.348 21 51 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044299 33044310 + In_Frame_Del DEL GCTGTGGCTGCT GCTGTGGCTGCT - TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd02ab5c-4637-4b84-a511-003778534ca5 482e3c36-59b1-4d04-85f7-74000b54e327 g.chr21:33044299_33044310delGCTGTGGCTGCT ENST00000286835.7 - 20 3228_3239 c.2846_2857delAGCAGCCACAGC c.(2845-2859)cagcagccacagccg>ccg p.QQPQ949del SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 949 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ggcgcctgcggctgtggctgctgctgtggctg 0.651 21 93 --- --- --- ---