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 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:534286C>G ENST00000417302.1 - 2 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 31 21 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113212566 113212566 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:113212566T>C ENST00000393020.1 + 12 1309 c.904T>C c.(904-906)Tcc>Ccc p.S302P TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000529221.1_Missense_Mutation_p.S302P|TTC12_ENST00000483239.2_Missense_Mutation_p.S308P Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 302 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TAGGTGTTTTTCCACAGCAGG 0.423000 32 58 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354641 45354641 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:45354641C>A ENST00000359271.2 + 2 1216 c.966C>A c.(964-966)ccC>ccA p.P322P NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 322 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TTGCCGTGCCCATGGACTCAG 0.657000 20 22 1.56452e-12 1.63903e-12 1 1 0 AGAP6 414189 broad.mit.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr10:51749089C>G ENST00000412531.3 + 2 317 c.245C>G c.(244-246)gCc>gGc p.A82G AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 82 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.A82G(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AACCTTTCTGCCAATCCAGAG 0.343000 7 81 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972852 32972852 + Missense_Mutation SNP C C T rs55853199 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr13:32972852C>T ENST00000544455.1 + 27 10429 c.10202C>T c.(10201-10203)aCg>aTg p.T3401M BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3401 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAGGCCAGTACGGAAGAATGT 0.398000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 4 55 0 0 1 0 0 PPP1R14B 26472 broad.mit.edu 37 11 64014017 64014017 + Silent SNP C C G rs1063811 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:64014017C>G ENST00000309318.3 - 1 396 c.129G>C c.(127-129)ggG>ggC p.G43G RP11-783K16.5_ENST00000544553.1_RNA NM_138689.2 NP_619634.1 Q96C90 PP14B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14B 43 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity kidney(1)|lung(1)|pancreas(1) 3 CATCGTCCGCCCCGCCCGGGC 0.721000 3 20 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100356051 100356051 + Translation_Start_Site SNP T T A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:100356051T>A ENST00000372927.1 + 0 269 CENPI_ENST00000372926.1_De_novo_Start_OutOfFrame|CENPI_ENST00000218507.5_De_novo_Start_OutOfFrame|CENPI_ENST00000423383.1_De_novo_Start_OutOfFrame NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 GTGTAGAACATATGCAGTAAT 0.393000 5 123 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65944414 65944414 + Missense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:65944414G>A ENST00000321892.4 + 25 8357 c.8296G>A c.(8296-8298)Gaa>Aaa p.E2766K BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2766 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTGCAAATTGAAGTGCAGGT 0.443000 5 25 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118143095 118143095 + Missense_Mutation SNP G G T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:118143095G>T ENST00000365713.2 + 6 1577 c.1414G>T c.(1414-1416)Gca>Tca p.A472S LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A513S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 513 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GTAGTGCTTGGCATCAAGAAA 0.378000 38 104 3.09479e-21 3.40427e-21 1 1 0 SH3D21 79729 broad.mit.edu 37 1 36786147 36786147 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:36786147T>C ENST00000453908.2 + 14 1911 c.1883T>C c.(1882-1884)gTg>gCg p.V628A SH3D21_ENST00000426732.2_Missense_Mutation_p.V512A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.V517A NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 512 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 AAAGAGGAGGTGACCCTGAAA 0.562000 6 30 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45219308 45219308 + Silent SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:45219308A>G ENST00000066544.3 - 12 1555 c.1462T>C c.(1462-1464)Ttg>Ctg p.L488L CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000531206.1_Silent_p.L494L|CDC27_ENST00000527547.1_Silent_p.L487L NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 488 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGATGGCTCAAAATATTTATA 0.383000 73 220 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 4 156 0.00909568 0.00909568 1 1 0 FAM53B 9679 broad.mit.edu 37 10 126370689 126370689 + Missense_Mutation SNP C C G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr10:126370689C>G ENST00000337318.3 - 4 604 c.393G>C c.(391-393)agG>agC p.R131S FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 131 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGCCCAAGGGCCTCCATGATG 0.612000 6 12 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189646 53189646 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr12:53189646C>T ENST00000417996.2 - 1 255 c.181G>A c.(181-183)Ggc>Agc p.G61S KRT3_ENST00000309505.3_Missense_Mutation_p.G61S NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 61 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TTGTTGCCGCCCAGGTTGTAG 0.667000 39 84 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87498786 87498786 + Missense_Mutation SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr8:87498786A>G ENST00000406452.3 - 4 581 c.422T>C c.(421-423)cTa>cCa p.L141P RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 ATACACCAATAGCTTTTTCTC 0.398000 33 67 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145538808 145538808 + Splice_Site SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:145538808G>A ENST00000369304.3 + 24 3094 c.2919_splice c.e24+1 p.R973_splice ITGA10_ENST00000539363.1_Splice_Site_p.R830_splice|ITGA10_ENST00000538811.1_Splice_Site_p.R842_splice NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 973 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.R973S(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCACTCTCAGGGTGAGAAGCT 0.522000 16 26 0 0 1 0 0 ERVFRD-1 405754 broad.mit.edu 37 6 11105081 11105081 + Nonsense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr6:11105081G>A ENST00000472091.1 - 2 838 c.463C>T c.(463-465)Caa>Taa p.Q155* SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155* NM_207582.2 NP_997465.1 P60508 EFRD1_HUMAN 155 integral to membrane|plasma membrane|virion breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1) 15 TAAGTCTGTTGGTTAGAATCT 0.393000 6 398 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53839013 53839013 + Silent SNP A A G TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr3:53839013A>G ENST00000288139.3 + 46 5767 c.5649A>G c.(5647-5649)caA>caG p.Q1883Q CACNA1D_ENST00000422281.2_Silent_p.Q1839Q|CACNA1D_ENST00000350061.5_Silent_p.Q1863Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1863 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCTCCAGGCAAAACTATGGCT 0.552000 28 33 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904858 62904858 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:62904858C>T ENST00000308824.6 + 6 1118 c.991C>T c.(991-993)Cca>Tca p.P331S PCMTD2_ENST00000369758.3_Missense_Mutation_p.P304S|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.P107S NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 331 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGAAACAAAGCCAGACCCCCC 0.507000 52 78 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991070 47991070 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:47991070T>C ENST00000371741.4 - 2 1193 c.1027A>G c.(1027-1029)Atg>Gtg p.M343V NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 343 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGAAGATCATAATGCCCATG 0.537000 17 32 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270623 1270623 + Silent SNP C C A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr11:1270623C>A ENST00000447027.1 + 31 12580 c.12522C>A c.(12520-12522)ggC>ggA p.G4174G MUC5B_ENST00000529681.1_Silent_p.G4171G|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4171 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCCCCTGGGCCTCGAGTGCC 0.682000 25 76 4.62619e-21 4.96469e-21 1 1 0 C16orf71 146562 broad.mit.edu 37 16 4787829 4787829 + Missense_Mutation SNP T T A rs141702834 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr16:4787829T>A ENST00000299320.5 + 3 636 c.158T>A c.(157-159)aTc>aAc p.I53N RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 53 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GAGCTGTTCATCTTCCAGCGA 0.602000 6 65 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 102 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159643 154159643 + Missense_Mutation SNP C C T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:154159643C>T ENST00000360256.4 - 14 2622 c.2422G>A c.(2422-2424)Gat>Aat p.D808N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 808 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATCAACAAATCACTAGAGGAG 0.413000 67 90 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 48 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 53 0 0 1 0 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291905 65291905 + RNA SNP A A T TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr8:65291905A>T ENST00000521441.1 + 0 655 TTGCCGCATAAATGCCCCCCA 0.512000 7 5 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982728 75982728 + Silent SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr15:75982728T>C ENST00000308508.5 - 3 770 c.678A>G c.(676-678)ctA>ctG p.L226L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 226 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTAAACTCTAGGGTTCCTT 0.607000 3 46 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65124466 65124466 + Missense_Mutation SNP A A C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:65124466A>C ENST00000371073.2 + 13 1861 c.1861A>C c.(1861-1863)Act>Cct p.T621P CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 621 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GAACCTCAACACTGTTCCCAG 0.463000 11 8 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20067293 20067293 + Missense_Mutation SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:20067293G>A ENST00000294543.6 - 11 1260 c.1019C>T c.(1018-1020)gCc>gTc p.A340V TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 340 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GTACTTTAGGGCCTCCTGGGC 0.577000 21 6 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150345211 150345211 + Silent SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chrX:150345211G>A ENST00000218316.3 + 1 87 c.18G>A c.(16-18)gcG>gcA p.A6A GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 6 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCACCCTAGCGGTTCCCACCC 0.557000 4 112 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr10:51749117G>A ENST00000412531.3 + 2 345 c.273G>A c.(271-273)caG>caA p.Q91Q AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 91 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.Q91Q(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CAATATTCCAGAGGAACTCTC 0.358000 5 67 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16810763 16810763 + RNA DEL G G - TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr1:16810763delG ENST00000263511.4 - 0 1768 NR_023386.1 AAGGTGGAGTGGATCAGGGCG 0.716 2 4 --- --- --- --- KIAA1984 84960 broad.mit.edu 37 9 139694454 139694455 + Splice_Site INS - - AAGA TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr9:139694454_139694455insAAGA ENST00000338005.6 + 4 306_307 c.270_splice c.e4-1 p.G91_splice KIAA1984_ENST00000371682.3_3'UTR NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 91 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CCCGACCCAGGTGGTGCGGGAG 0.688 2 4 --- --- --- --- IQSEC3P1 100132450 broad.mit.edu 37 12 2861801 2861801 + RNA DEL G G - TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr12:2861801delG ENST00000540093.1 - 0 56 CCGAGGGCGCGGGGCATTTGT 0.637 2 4 --- --- --- --- ABCC6P1 653190 broad.mit.edu 37 16 18593649 18593649 + RNA DEL A A - TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr16:18593649delA ENST00000546162.2 + 0 805 NR_003569.1 ccctgtctcgaaaaaaaaaaa 0.507 3 4 --- --- --- --- SMG1P3 100271836 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 3 6 --- --- --- --- SCARNA15 677778 broad.mit.edu 37 20 41933319 41933321 + RNA DEL AAA AAA - rs79619980 TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffef4988-378c-4c7c-a1d3-9dc6183c15e8 3f14e246-12e1-4c08-83bb-22ad230db737 g.chr20:41933319_41933321delAAA ENST00000516384.1 + 0 125 TATCaatagcaaaaaaaaaaaaa 0.315 2 4 --- --- --- ---