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 AHNAK2 113146 broad.mit.edu 37 14 105413382 105413382 + Silent SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr14:105413382G>A ENST00000333244.5 - 7 8525 c.8406C>T c.(8404-8406)gcC>gcT p.A2802A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2802 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCCCTTGTCGGCCAGGGACA 0.617000 6 477 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877845 130877845 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:130877845C>T ENST00000357462.5 - 1 337 c.244G>A c.(244-246)Gct>Act p.A82T POTEF_ENST00000360967.5_Missense_Mutation_p.A82T|POTEF_ENST00000361163.4_Missense_Mutation_p.A82T|POTEF_ENST00000409914.2_Missense_Mutation_p.A82T A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 82 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCTCCAGAAGCGCCCACGTTG 0.602000 5 388 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130930857 130930857 + Silent SNP A A G rs151328892 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:130930857A>G ENST00000409031.1 - 5 1605 c.457T>C c.(457-459)Ttg>Ctg p.L153L SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000351288.6_Silent_p.L153L|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000426662.2_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 114 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CTTACAGGCAAGTAGGAGACA 0.488000 4 116 0 0 1 0 0 IMMP1L 196294 broad.mit.edu 37 11 31477878 31477878 + Silent SNP T T G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr11:31477878T>G ENST00000278200.1 - 5 445 c.250A>C c.(250-252)Aga>Cga p.R84R IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000532287.1_Silent_p.R84R NM_144981.1 NP_659418.1 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 84 proteolysis mitochondrial inner membrane serine-type peptidase activity breast(1)|cervix(1)|large_intestine(1)|lung(4) 7 Lung SC(675;0.225) CCAATTACTCTTTTACAAATA 0.318000 7 50 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 9 973 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 5 46 0 0 1 0 0 WFDC9 259240 broad.mit.edu 37 20 44236772 44236772 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:44236772G>A ENST00000326000.1 - 5 464 c.247C>T c.(247-249)Ctt>Ttt p.L83F NM_147198.3 NP_671731.1 Q8NEX5 WFDC9_HUMAN WAP four-disulfide core domain 9 83 extracellular region breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) ATTGATTTAAGGGGCTCTCTA 0.423000 4 185 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49765404 49765404 + Missense_Mutation SNP A A G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr13:49765404A>G ENST00000492622.2 + 19 2415 c.2110A>G c.(2110-2112)Ata>Gta p.I704V FNDC3A_ENST00000398316.3_Missense_Mutation_p.I648V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I704V NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 704 Fibronectin type-III 5. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) AATGTCTCCTATAGAAAAAGA 0.413000 12 81 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14507920 14507920 + Silent SNP G G A rs148941728 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr19:14507920G>A ENST00000242786.5 + 6 590 c.510G>A c.(508-510)ccG>ccA p.P170P CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 170 EGF-like 4; calcium-binding (Potential). 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 GACAAAACCCGTGCCACAGCT 0.627000 4 108 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117662679 117662679 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr6:117662679C>T ENST00000368508.3 - 29 4984 c.4786G>A c.(4786-4788)Gca>Aca p.A1596T ROS1_ENST00000368507.3_Missense_Mutation_p.A1590T|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1596 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGTGAGATTGCCAACTGATAA 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 95 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5559094 5559094 + Missense_Mutation SNP G G T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:5559094G>T ENST00000379019.4 - 8 849 c.637C>A c.(637-639)Cgt>Agt p.R213S GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 213 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TCTGTCCAACGATCAGGCTGC 0.443000 4 75 0.000602214 0.000602214 1 1 0 RYR3 6263 broad.mit.edu 37 15 34115225 34115225 + Missense_Mutation SNP A A G TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr15:34115225A>G ENST00000389232.4 + 81 11094 c.11024A>G c.(11023-11025)aAg>aGg p.K3675R RYR3_ENST00000415757.3_Missense_Mutation_p.K3670R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3675 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGGAGAAAAAGGATGCTGGA 0.418000 3 52 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211473267 211473267 + Missense_Mutation SNP T T C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr2:211473267T>C ENST00000233072.5 + 19 2571 c.2375T>C c.(2374-2376)aTg>aCg p.M792T CPS1_ENST00000430249.2_Missense_Mutation_p.M798T|CPS1_ENST00000451903.2_Missense_Mutation_p.M341T NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 792 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGTAGCTCTATGAAAAGTGTA 0.418000 4 117 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31299603 31299603 + Nonsense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:31299603C>T ENST00000265071.2 + 5 941 c.676C>T c.(676-678)Cga>Tga p.R226* CDH6_ENST00000514738.1_Nonsense_Mutation_p.R171* NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 226 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAACATGGATCGAGAAAACAG 0.438000 4 82 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1343499 1343499 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr4:1343499G>A ENST00000389851.4 + 3 733 c.286G>A c.(286-288)Gca>Aca p.A96T UVSSA_ENST00000511216.1_Missense_Mutation_p.A96T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A96T NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 96 CACAGACCCCGCACAGCCTCT 0.627000 3 47 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517245 140517245 + Silent SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:140517245C>T ENST00000231134.5 + 1 2446 c.2229C>T c.(2227-2229)acC>acT p.T743T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 743 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCGGGACCCTATCCCAGA 0.642000 26 236 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 34 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661276 22661276 + RNA SNP T T C rs2329972 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr22:22661276T>C ENST00000426066.1 + 0 360 NR_027293.1 GATGTACGTCTGCGTTGAGAT 0.488000 5 42 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395480 186395480 + Silent SNP T T C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr3:186395480T>C ENST00000232003.4 + 7 1466 c.1386T>C c.(1384-1386)ccT>ccC p.P462P NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 462 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCGACTCCCTCCTCTAAGAA 0.552000 37 30 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G C rs143982735 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr15:102304884G>C ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 17 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133381 126133381 + Missense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr9:126133381G>A ENST00000373631.3 + 8 1961 c.1960G>A c.(1960-1962)Gcc>Acc p.A654T CRB2_ENST00000373629.2_Missense_Mutation_p.A322T|CRB2_ENST00000359999.3_Missense_Mutation_p.A654T NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 654 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CTTGGGAGGCGCCCCAAGCTC 0.617000 4 138 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870241 129870241 + Missense_Mutation SNP G G C TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr9:129870241G>C ENST00000373425.3 - 2 1387 c.770C>G c.(769-771)aCt>aGt p.T257S RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'UTR|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 257 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 AGTGGGCATAGTGGGCAGAGG 0.577000 26 52 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 4 94 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54579230 54579230 + Missense_Mutation SNP C C T TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:54579230C>T ENST00000251636.5 - 11 1914 c.1766G>A c.(1765-1767)cGg>cAg p.R589Q RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 589 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AACCACTACCCGATGCCTTTT 0.398000 5 202 0 0 1 0 0 PSMA7 5688 broad.mit.edu 37 20 60715937 60715937 + Nonsense_Mutation SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr20:60715937G>A ENST00000370873.4 - 2 286 c.160C>T c.(160-162)Cag>Tag p.Q54* PSMA7_ENST00000370861.1_5'UTR|PSMA7_ENST00000370858.3_Nonsense_Mutation_p.Q54*|PSMA7_ENST00000484488.1_5'UTR NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 54 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTTTCATCCTGCAGTTTGGCC 0.468000 60 94 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 86 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr10:43617416T>C ENST00000355710.3 + 16 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918 Protein kinase. M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTTAAATGGATGGCAATTGAA 0.443000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 53 131 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72629626 72629626 + Silent SNP G G A rs149884974 byFrequency TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr4:72629626G>A ENST00000273951.8 - 5 844 c.501C>T c.(499-501)taC>taT p.Y167Y GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.Y167Y|GC_ENST00000504199.1_Silent_p.Y186Y NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 167 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity p.Y167Y(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GAGCTTGTCCGTAATTAGTGG 0.363000 9 83 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75746642 75746642 + Silent SNP G G A TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr14:75746642G>A ENST00000303562.4 + 2 413 c.204G>A c.(202-204)tcG>tcA p.S68S FOS_ENST00000555686.1_5'UTR|FOS_ENST00000535987.1_Silent_p.S68S|FOS_ENST00000555242.1_Silent_p.S68S|FOS_ENST00000554617.1_Silent_p.S68S NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 68 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CTGCCATCTCGACCAGTCCGG 0.642000 4 80 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 9 27 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-QT-A5XK-01A-11D-A35D-08 TCGA-QT-A5XK-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0127fef-9769-4e69-8d9a-f63deb34af70 26681123-af85-48c8-a76f-8d200d1ea3cc g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 3 3 --- --- --- ---