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 FANK1 92565 broad.mit.edu 37 10 127693465 127693465 + Silent SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr10:127693465G>A ENST00000368695.1 + 7 656 c.534G>A c.(532-534)gcG>gcA p.A178A FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Silent_p.A184A NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 184 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TAATGCTGGCGTGCTATGCGG 0.507000 6 81 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37026330 37026330 + Splice_Site SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr5:37026330G>A ENST00000282516.8 + 31 6208 c.e31-1 NIPBL_ENST00000448238.2_Splice_Site NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTTCCTTCTAGAAATTAGTAA 0.313000 13 24 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41296926 41296926 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr1:41296926G>A ENST00000347132.5 + 10 1545 c.1463G>A c.(1462-1464)cGc>cAc p.R488H KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 488 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TTCAATGACCGCACCCGCTTC 0.652000 5 2 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148709068 148709068 + Silent SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr7:148709068G>A ENST00000286091.4 - 6 1081 c.849C>T c.(847-849)tcC>tcT p.S283S NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 283 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) AGGGAGGCCCGGACTGCTCGA 0.582000 4 60 0 0 1 0 0 ATP4B 496 broad.mit.edu 37 13 114312443 114312443 + Missense_Mutation SNP T T A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr13:114312443T>A ENST00000335288.4 - 1 58 c.17A>T c.(16-18)gAg>gTg p.E6V NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 6 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) CGTCTTCTTCTCCTGCAGAGC 0.642000 5 29 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39994226 39994226 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:39994226G>A ENST00000336649.4 + 4 307 c.307G>A c.(307-309)Gac>Aac p.D103N CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 103 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCAGCCGTGCGACGACATGGA 0.632000 3 16 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109826586 109826586 + Silent SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr12:109826586G>A ENST00000310903.5 + 2 169 c.63G>A c.(61-63)gcG>gcA p.A21A MYO1H_ENST00000431443.2_Silent_p.A21A B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TATTGGACGCGTACACCAGCG 0.532000 4 208 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791853 42791853 + Nonsense_Mutation SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr19:42791853C>T ENST00000572681.2 + 6 3534 c.3466C>T c.(3466-3468)Cag>Tag p.Q1156* CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247* Q96RK0 CIC_HUMAN capicua transcriptional repressor 247 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGGAGAAGCAGAAGTACCA 0.632000 """Mis, F, S""" oligodendroglioma 4 23 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678327 65678327 + Missense_Mutation SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr15:65678327C>A ENST00000352385.2 - 18 3231 c.3022G>T c.(3022-3024)Ggc>Tgc p.G1008C NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1008 integral to membrane|plasma membrane p.G1008C(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGGGGGGCCAAGCCGAGCT 0.662000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 1.06961e-07 1.24788e-07 1 1 0 MFSD10 10227 broad.mit.edu 37 4 2933825 2933825 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr4:2933825G>A ENST00000329687.4 - 6 1283 c.749C>T c.(748-750)gCc>gTc p.A250V MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 250 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCGCAGCAGGGCCAGGGGGCT 0.672000 6 12 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100117175 100117175 + Splice_Site SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr9:100117175C>A ENST00000375202.2 + 38 4633 c.3279_splice c.e38-1 p.A1094_splice CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Splice_Site_p.A1065_splice|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Splice_Site_p.A1094_splice coiled-coil domain containing 180 TCTGTACAGGCCAATGATGTC 0.463000 10 66 6.40141e-05 7.07524e-05 1 1 0 GIGYF2 26058 broad.mit.edu 37 2 233712219 233712219 + Nonsense_Mutation SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:233712219C>T ENST00000373566.3 + 28 3885 c.3688C>T c.(3688-3690)Cag>Tag p.Q1230* GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1208 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) tcagcagcagcagctgccaca 0.572000 9 84 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 5 6.4e-05 7.07524e-05 1 1 0 SLC35A4 113829 broad.mit.edu 37 5 139947214 139947214 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr5:139947214G>T ENST00000514199.1 + 2 2146 c.460G>T c.(460-462)Gcc>Tcc p.A154S SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S|APBB3_ENST00000507279.1_Intron Q96G79 S35A4_HUMAN solute carrier family 35, member A4 154 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTGCGGGAGCCTGCTATGC 0.637000 5 46 0.000602214 0.000616903 1 1 0 QARS 5859 broad.mit.edu 37 3 49141306 49141306 + Missense_Mutation SNP A A G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr3:49141306A>G ENST00000306125.6 - 3 702 c.365T>C c.(364-366)aTt>aCt p.I122T QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000420147.2_Missense_Mutation_p.I140T P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 122 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGCCTCCTCAATCTGCTCTGG 0.592000 7 29 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69465934 69465934 + Missense_Mutation SNP A A G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr11:69465934A>G ENST00000227507.2 + 5 999 c.772A>G c.(772-774)Agc>Ggc p.S258G NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 258 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) GCTGGAGTCAAGCCTGCGCCA 0.667000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 14 16 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57968233 57968233 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr17:57968233G>T ENST00000325752.3 - 2 408 c.131C>A c.(130-132)gCa>gAa p.A44E TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E|TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 44 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TTTGCAAGATGCTTGATATGC 0.458000 4 125 0.00116845 0.00116845 1 1 0 ING5 84289 broad.mit.edu 37 2 242650843 242650843 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:242650843G>T ENST00000313552.6 + 4 354 c.328G>T c.(328-330)Gat>Tat p.D110Y ING5_ENST00000406941.1_Missense_Mutation_p.D110Y|ING5_ENST00000482774.1_3'UTR NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 110 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CTTTGAAGCAGATCTGAAGGA 0.393000 79 121 6.44939e-38 8.20832e-38 1 1 0 CD97 976 broad.mit.edu 37 19 14499539 14499539 + Silent SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr19:14499539C>T ENST00000242786.5 + 3 179 c.99C>T c.(97-99)aaC>aaT p.N33N CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000357355.3_Silent_p.N33N NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 33 EGF-like 1. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCCCTCAGAACTCCTCGTGTG 0.587000 5 171 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 93 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3701451 3701451 + Missense_Mutation SNP A A G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr12:3701451A>G ENST00000382622.3 + 9 1424 c.1034A>G c.(1033-1035)tAc>tGc p.Y345C PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 345 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TTGGAAGATTACCTCACTGTC 0.532000 39 72 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 5 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 32 54 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163124706 163124706 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:163124706G>T ENST00000263642.2 - 14 3093 c.2698C>A c.(2698-2700)Cca>Aca p.P900T NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 900 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 ATTAGTGATGGGTTATTCTTG 0.363000 21 39 2.39187e-15 2.95467e-15 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35944787 35944787 + Silent SNP A A G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr1:35944787A>G ENST00000325722.3 - 4 927 c.693T>C c.(691-693)agT>agC p.S231S NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 231 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGGTTAGGGGACTGGAAATTG 0.408000 33 18 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 93 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752433 62752433 + RNA SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr7:62752433C>A ENST00000331425.6 - 0 1002 NR_003952.1 TATGAATTCTCTTATGTCTAG 0.438000 5 16 0.000602214 0.000616903 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196642630 196642630 + Missense_Mutation SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:196642630C>T ENST00000312428.6 - 59 11058 c.10958G>A c.(10957-10959)cGc>cAc p.R3653H DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3653 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCGCAGCGTGCGCCGGTCCCA 0.473000 23 31 0 0 1 0 0 CDC34 997 broad.mit.edu 37 19 535886 535886 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr19:535886G>A ENST00000215574.4 + 2 445 c.227G>A c.(226-228)cGg>cAg p.R76Q NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 76 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCAGCCTTTCGGTTCCTGACC 0.647000 35 324 0 0 1 0 0 ADORA2B 136 broad.mit.edu 37 17 15878191 15878191 + Silent SNP C C G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr17:15878191C>G ENST00000304222.2 + 2 866 c.534C>G c.(532-534)ccC>ccG p.P178P NM_000676.2 NP_000667.1 P29275 AA2BR_HUMAN adenosine A2b receptor 178 Agonist binding (By similarity). activation of MAPK activity|cellular defense response|excretion|JNK cascade integral to plasma membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 9 UCEC - Uterine corpus endometrioid carcinoma (92;0.0855) Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277) ATGTGGTCCCCATGAGCTACA 0.478000 21 30 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35293691 35293691 + Nonsense_Mutation SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr20:35293691C>A ENST00000373803.2 - 11 762 c.706G>T c.(706-708)Gag>Tag p.E236* NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*|NDRG3_ENST00000349004.1_Nonsense_Mutation_p.E236*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224* Q9UGV2 NDRG3_HUMAN NDRG family member 3 236 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CTTTCGATCTCCAGGTCTCTG 0.368000 5 143 0.000602214 0.000616903 1 1 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 4 66 0 0 1 0 0 CBY1 25776 broad.mit.edu 37 22 39064094 39064094 + Missense_Mutation SNP A A G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr22:39064094A>G ENST00000216029.3 + 2 169 c.35A>G c.(34-36)aAg>aGg p.K12R RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.1_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 12 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) AGTCCGAAGAAGACACCTCCT 0.537000 26 38 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152690656 152690656 + Missense_Mutation SNP T T C TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr6:152690656T>C ENST00000367255.5 - 60 10202 c.9601A>G c.(9601-9603)Aat>Gat p.N3201D SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3201 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAGAGGCGATTGCTGCTTTCA 0.512000 HNSCC(10;0.0054) 8 58 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 27 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5410585 5410585 + Missense_Mutation SNP C C T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr18:5410585C>T ENST00000341928.2 - 14 2441 c.2101G>A c.(2101-2103)Ggg>Agg p.G701R EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 701 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GTGGTCTCCCCGTCGGCTGCG 0.537000 8 26 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 58 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715654 101715654 + Missense_Mutation SNP C C A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr10:101715654C>A ENST00000342239.3 - 4 1668 c.1577G>T c.(1576-1578)gGt>gTt p.G526V DNMBP_ENST00000324109.4_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 526 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGCTTGCGGACCAGGCTTCAT 0.498000 20 104 1.00905e-13 1.21086e-13 1 1 0 ENPP1 5167 broad.mit.edu 37 6 132194118 132194118 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr6:132194118G>A ENST00000360971.2 + 15 1513 c.1493G>A c.(1492-1494)cGt>cAt p.R498H NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 498 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTACCTAAGCGTTTGCACTTT 0.408000 71 101 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430035 78430036 + Frame_Shift_Ins INS - - G TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr1:78430035_78430036insG ENST00000370767.1 - 11 930_931 c.843_844insC c.(841-846)ccttccfs p.S282fs FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.S303fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.S282fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 282 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 AATCTTGGAATGGGGACCTTAT 0.342 """F, N""" oligodendroglioma 12 23 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801975 248801976 + Frame_Shift_Del DEL AT AT - TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr1:248801975_248801976delAT ENST00000317450.3 - 1 583_584 c.584_585delAT c.(583-585)tfs p.Y195fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGGGTCTCATAGAGTGACGT 0.500 3 6 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67591129 67591130 + Frame_Shift_Del DEL AA AA - TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr5:67591129_67591130delAA ENST00000521381.1 + 13 2338_2339 c.1722_1723delAA c.(1720-1725)agagfs p.RK574fs PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.RK304fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.RK211fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.RK274fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.RK574fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 574 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.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(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) TCCAGCTGAGAAAGACGAGAGA 0.376 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 10 81 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 4 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 5 8 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58589321 58589322 + Frame_Shift_Ins INS - - T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr16:58589321_58589322insT ENST00000317147.5 - 21 3056_3057 c.2724_2725insA c.(2722-2727)aaagttfs p.V909fs CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.V904fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.V909fs NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 909 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATATGTAACTCTTTATCAGGAT 0.376 36 130 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793116 42793116 + Frame_Shift_Del DEL T T - TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chr19:42793116delT ENST00000572681.2 + 8 3803 c.3735delT c.(3733-3735)tgfs p.C1245fs CIC_ENST00000575354.2_Frame_Shift_Del_p.C336fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 336 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCAGCTCCTGTGGGGCAGAAC 0.622 """Mis, F, S""" oligodendroglioma 9 58 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9c6d8f4-b65d-45d1-be60-bc2582ca5ece 1630984f-6709-413b-841f-d9798f3bf99a g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 5 1 --- --- --- ---