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 TMED8 283578 broad.mit.edu 37 14 77812725 77812725 + Missense_Mutation SNP C C A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr14:77812725C>A ENST00000216468.7 - 3 349 c.294G>T c.(292-294)ttG>ttT p.L98F NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 98 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CTGCAGGCAGCAAATCCTGTT 0.537000 3 65 0.004672 0.00517708 0.115264 1 0 CNTNAP3 79937 broad.mit.edu 37 9 39171422 39171422 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:39171422C>T ENST00000297668.6 - 8 1350 c.1277G>A c.(1276-1278)gGc>gAc p.G426D CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 426 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTTGAGCTTGCCATCCTTAAG 0.468000 4 145 0 0 0.009096 0 0 BMS1 9790 broad.mit.edu 37 10 43318593 43318593 + Missense_Mutation SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:43318593G>A ENST00000374518.4 + 20 3223 c.3160G>A c.(3160-3162)Gcc>Acc p.A1054T NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1054 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTGGAAGTGGCCAAATTTGA 0.423000 4 146 0 0 0.014758 0 0 HCRTR1 3061 broad.mit.edu 37 1 32092570 32092570 + Missense_Mutation SNP G G T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:32092570G>T ENST00000403528.2 + 9 1652 c.1267G>T c.(1267-1269)Gtg>Ttg p.V423L HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Missense_Mutation_p.V423L NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 423 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CGTCACCACAGTGCTGCCCTG 0.612000 4 147 0.000602214 0.000685855 0.014758 1 0 COL16A1 1307 broad.mit.edu 37 1 32138037 32138037 + Missense_Mutation SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:32138037G>A ENST00000373672.3 - 47 3601 c.3085C>T c.(3085-3087)Cca>Tca p.P1029S COL16A1_ENST00000271069.6_Missense_Mutation_p.P1029S NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1029 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CTCTGGCCTGGCAATCCCGGA 0.607000 4 167 0 0 0.009096 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 72 0 0 0.021553 0 0 FGR 2268 broad.mit.edu 37 1 27949582 27949582 + Silent SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:27949582C>T ENST00000374005.3 - 4 588 c.300G>A c.(298-300)aaG>aaA p.K100K FGR_ENST00000399173.1_Silent_p.K100K|FGR_ENST00000374004.1_Silent_p.K100K|FGR_ENST00000545953.1_Silent_p.K100K NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 100 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACTTCTCGCCCTTGGTGAAGG 0.552000 9 48 0 0 0.069234 0 0 ZFAND5 0 broad.mit.edu 37 9 74975033 74975033 + Missense_Mutation SNP T T G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:74975033T>G ENST00000237937.3 - 3 813 c.256A>C c.(256-258)Aaa>Caa p.K86Q ZFAND5_ENST00000343431.2_Missense_Mutation_p.K86Q|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.K86Q|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K86Q NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 86 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 TACCTTGATTTTTCAGATGTG 0.393000 4 95 0 0 0.009096 0 0 PFKFB3 5209 broad.mit.edu 37 10 6268161 6268161 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:6268161A>G ENST00000379775.4 + 14 1678 c.1348A>G c.(1348-1350)Aag>Gag p.K450E PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 450 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TTAGGATGCAAAGAAGGGACC 0.483000 4 154 0 0 0.021553 0 0 LILRB3 11025 broad.mit.edu 37 19 54722660 54722660 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr19:54722660C>T ENST00000391750.1 - 10 1610 c.1474G>A c.(1474-1476)Gag>Aag p.E492K LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 492 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCTTGGGCTCTGTCTCCGCA 0.577000 4 113 0 0 0.009096 0 0 TSPAN15 23555 broad.mit.edu 37 10 71243586 71243586 + Missense_Mutation SNP T T C rs140708891 byFrequency TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:71243586T>C ENST00000373290.2 + 2 358 c.236T>C c.(235-237)aTt>aCt p.I79T NM_012339.3 NP_036471.1 O95858 TSN15_HUMAN tetraspanin 15 79 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 GTCTCCTTCATTGGTGTGCTG 0.587000 4 96 0 0 0.014758 0 0 CYP26B1 56603 broad.mit.edu 37 2 72362423 72362423 + Silent SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr2:72362423C>T ENST00000001146.2 - 3 758 c.555G>A c.(553-555)gcG>gcA p.A185A CYP26B1_ENST00000546307.1_Silent_p.A110A|CYP26B1_ENST00000412253.1_5'UTR NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 185 A -> V. cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 TCAGCTTCTGCGCCTCCTGGT 0.622000 5 184 0 0 0.021553 0 0 RNF139 11236 broad.mit.edu 37 8 125499517 125499517 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr8:125499517A>G ENST00000303545.3 + 2 1999 c.1627A>G c.(1627-1629)Ata>Gta p.I543V NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 543 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTACAAGAAATAAATGATGT 0.378000 31 56 0 0 0.134883 0 0 SDAD1 55153 broad.mit.edu 37 4 76881302 76881302 + Missense_Mutation SNP T T C TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:76881302T>C ENST00000356260.5 - 17 1518 c.1400A>G c.(1399-1401)tAt>tGt p.Y467C SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C|SDAD1_ENST00000513089.1_5'UTR NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 467 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TAATTCTCCATATTCTTGTAC 0.348000 6 67 0 0 0.021553 0 0 OGDHL 55753 broad.mit.edu 37 10 50952733 50952733 + Missense_Mutation SNP A A C TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:50952733A>C ENST00000374103.4 - 13 1780 c.1695T>G c.(1693-1695)atT>atG p.I565M OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M|OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 565 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TTATATGCAGAATCTTTTTAT 0.527000 5 109 0 0 0.021553 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 95 0 0 0.115264 0 0 NCAM2 4685 broad.mit.edu 37 21 22804492 22804492 + Silent SNP C C A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr21:22804492C>A ENST00000400546.1 + 12 1794 c.1545C>A c.(1543-1545)tcC>tcA p.S515S NCAM2_ENST00000284894.7_Silent_p.S373S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 515 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CCAAGGTTTCCTTCAACAAAC 0.453000 7 79 1.12685e-05 1.32003e-05 0.047766 1 0 TCN2 6948 broad.mit.edu 37 22 31008997 31008997 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr22:31008997A>G ENST00000215838.3 + 3 889 c.395A>G c.(394-396)aAa>aGa p.K132R TCN2_ENST00000405742.3_Missense_Mutation_p.K128R|TCN2_ENST00000407817.3_Intron P20062 TCO2_HUMAN transcobalamin II 132 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCACAGCTCAAATGGTTCCTG 0.582000 35 31 0 0 0.050027 0 0 TRAF4 9618 broad.mit.edu 37 17 27074944 27074944 + Missense_Mutation SNP T T A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr17:27074944T>A ENST00000262395.5 + 3 408 c.279T>A c.(277-279)agT>agA p.S93R TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R|TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 93 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) GCCGCTGGAGTGGGCCACTAC 0.612000 25 28 0 0 0.091800 0 0 COL27A1 85301 broad.mit.edu 37 9 117071596 117071596 + Silent SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:117071596G>A ENST00000356083.3 + 60 5665 c.5274G>A c.(5272-5274)gaG>gaA p.E1758E NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1758 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TAAGCTCCGAGGTGACCCAGC 0.617000 109 166 0 0 0.139131 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357184 104357184 + Missense_Mutation SNP T T A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:104357184T>A ENST00000374806.1 - 1 99 c.29A>T c.(28-30)tAc>tTc p.Y10F GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 7 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CTCCGCCGGGTAACTGGCCTC 0.587000 42 68 0 0 0.104719 0 0 TIGD4 201798 broad.mit.edu 37 4 153691793 153691793 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:153691793C>T ENST00000304337.2 - 2 1184 c.364G>A c.(364-366)Ggc>Agc p.G122S NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 122 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) TCATTATGGCCCAGTTTCTGG 0.403000 4 150 0 0 0.009096 0 0 EPHB6 0 broad.mit.edu 37 7 142563827 142563827 + Silent SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr7:142563827C>T ENST00000392957.2 + 9 2002 c.1215C>T c.(1213-1215)gtC>gtT p.V405V EPHB6_ENST00000411471.2_Silent_p.V128V|EPHB6_ENST00000442129.1_Silent_p.V405V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 405 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCTTCAATGTCGTGTGCAAGG 0.637000 13 15 0 0 0.093190 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 4 130 0 0 0.014758 0 0 AGA 175 broad.mit.edu 37 4 178359917 178359917 + Silent SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:178359917G>A ENST00000264595.2 - 4 616 c.489C>T c.(487-489)tgC>tgT p.C163C AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 163 C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles). asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AATTTGGCTGGCAATTCCGAG 0.393000 3 31 0 0 0.115264 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 53 0 0 0.092188 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 11 0.115264 0.124364 0.115264 1 0 C16orf72 29035 broad.mit.edu 37 16 9197107 9197107 + Missense_Mutation SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr16:9197107G>A ENST00000327827.7 + 3 971 c.574G>A c.(574-576)Gct>Act p.A192T NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 192 endometrium(4)|large_intestine(2)|lung(2) 8 GGAAGCCATAGCTCTGCATGG 0.463000 5 53 0 0 0.021553 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 4 6 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 100 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 3 4 --- --- --- ---