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 LAMA3 3909 broad.mit.edu 37 18 21484047 21484047 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr18:21484047G>A ENST00000313654.9 + 50 6710 c.6469G>A c.(6469-6471)Gaa>Aaa p.E2157K LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2157 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGCAGCTGGAAGAGTGAGT 0.567000 52 76 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 37 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 182 0 0 1 0 0 ROPN1B 152015 broad.mit.edu 37 3 125701153 125701153 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr3:125701153C>T ENST00000514116.1 + 6 752 c.437C>T c.(436-438)tCa>tTa p.S146L ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 146 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) GAGGTCTTATCATGTGACCAC 0.428000 48 96 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79095498 79095498 + Silent SNP G G T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:79095498G>T ENST00000370751.4 + 4 800 c.621G>T c.(619-621)ggG>ggT p.G207G IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 207 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GTCCAGTTGGGTCTGGAAAGT 0.453000 3 38 1 1 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 7 20 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137125 126137125 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr12:126137125A>G ENST00000299308.3 + 8 2046 c.2038A>G c.(2038-2040)Agg>Ggg p.R680G TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 680 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCAGACAAAAGGGCCATCGT 0.612000 3 172 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669597 158669597 + Missense_Mutation SNP C C G rs141159720 byFrequency TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:158669597C>G ENST00000359610.2 - 1 889 c.846G>C c.(844-846)ttG>ttC p.L282F NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGAAGGGAGACAAAACTGCAA 0.403000 24 28 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852302 63852302 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr10:63852302A>G ENST00000279873.7 + 10 3490 c.3080A>G c.(3079-3081)aAg>aGg p.K1027R ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GCAGGGAAAAAGGCCCGGGCA 0.607000 4 171 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4920917 4920917 + Silent SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr16:4920917A>G ENST00000396658.4 + 10 2206 c.1503A>G c.(1501-1503)aaA>aaG p.K501K UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 501 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K501K(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATGAAGAAAAAGGGGGCAGGA 0.522000 3 99 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr15:79059040A>G ENST00000388820.4 - 19 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCTCGTGGAAATTGATGAAAT 0.617000 3 75 0 0 1 0 0 GPX2 2877 broad.mit.edu 37 14 65406325 65406325 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr14:65406325A>G ENST00000389614.5 - 2 540 c.454T>C c.(454-456)Tgg>Cgg p.W152R CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 152 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) TCAAAGTTCCAGGCCACATCT 0.562000 3 127 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 78005791 78005791 + Silent SNP C C A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr16:78005791C>A ENST00000302536.2 + 8 1275 c.1122C>A c.(1120-1122)ggC>ggA p.G374G NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 374 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GGAACATTGGCAAGTTAATTC 0.522000 OREG0023950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 586 5.4927e-09 5.93806e-09 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91730275 91730275 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:91730275A>G ENST00000359028.2 + 45 11239 c.11014A>G c.(11014-11016)Agg>Ggg p.R3672G AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3672 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATCTTTGAAAAGGGCAGAGGC 0.393000 T BRAF papillary thyroid 3 121 0 0 1 0 0 N6AMT2 221143 broad.mit.edu 37 13 21306248 21306248 + Silent SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr13:21306248C>G ENST00000382758.1 - 4 287 c.240G>C c.(238-240)gtG>gtC p.V80V N6AMT2_ENST00000382754.4_Silent_p.V80V Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 80 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TAGGGGCACTCACACATGCGA 0.398000 64 119 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151153024 151153024 + Missense_Mutation SNP G G C TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr6:151153024G>C ENST00000367328.1 + 16 3089 c.2777G>C c.(2776-2778)gGc>gCc p.G926A PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G926A NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 926 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TCTAAAGAAGGCTCCTTTATG 0.572000 129 213 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156378 150156378 + Missense_Mutation SNP G G T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chrX:150156378G>T ENST00000325307.7 + 5 690 c.594G>T c.(592-594)gaG>gaT p.E198D HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 198 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaggaggaggaTGAATAAA 0.463000 4 136 0.014758 0.0155347 1 1 0 MST1L 0 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 10 98 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40979879 40979879 + Missense_Mutation SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr5:40979879C>G ENST00000313164.9 + 17 2577 c.2218C>G c.(2218-2220)Ctg>Gtg p.L740V C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 740 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GATACTGCCTCTGACAGTTTG 0.413000 28 35 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr10:24669920T>C ENST00000376454.3 + 3 507 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 159 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 CTCCAACCCCTTTTTCCAGAG 0.542000 3 113 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 3 76 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47921639 47921639 + Nonsense_Mutation SNP C C A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:47921639C>A ENST00000289672.2 - 20 3360 c.3310G>T c.(3310-3312)Gag>Tag p.E1104* NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1104 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGGCTCTCCTCGGCACTCAAG 0.527000 3 110 1 1 1 1 0 MSI2 0 broad.mit.edu 37 17 55752345 55752345 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr17:55752345C>T ENST00000284073.2 + 12 1012 c.803C>T c.(802-804)gCg>gTg p.A268V MSI2_ENST00000416426.2_Missense_Mutation_p.A264V|MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000579505.1_3'UTR NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 268 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TCCAACCCGGCGCGGCCCGGA 0.642000 T HOXA9 CML 5 253 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714349 150714349 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:150714349G>A ENST00000605938.1 - 9 2138 c.2063C>T c.(2062-2064)gCg>gTg p.A688V ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.A688V|ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 688 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTCTGTCCCGCCGAGAGCCA 0.592000 3 50 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181452990 181452990 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:181452990C>T ENST00000526775.1 + 1 275 c.110C>T c.(109-111)gCc>gTc p.A37V CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A37V NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 37 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGGCAGGCGGCCGCCTACAAG 0.652000 4 145 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65266387 65266387 + RNA SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr11:65266387A>G ENST00000534336.1 + 0 1155 NR_002819.2 CTAGAAAAGTAAAACTAGAAC 0.393000 31 51 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94318686 94318686 + Silent SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr11:94318686G>A ENST00000299001.6 + 6 922 c.711G>A c.(709-711)caG>caA p.Q237Q RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 237 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAATTCCCCAGCACAAGTAGG 0.328000 4 191 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39934227 39934227 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr2:39934227G>A ENST00000281961.2 + 3 609 c.553G>A c.(553-555)Gta>Ata p.V185I TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A CGGCATGGCCGTAGCCGTCCT 0.488000 3 75 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44570331 44570331 + Missense_Mutation SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr19:44570331C>G ENST00000591793.1 + 7 763 c.680C>G c.(679-681)tCt>tGt p.S227C ZNF223_ENST00000434772.3_Missense_Mutation_p.S117C Q9UK11 ZN223_HUMAN zinc finger protein 223 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) CCTCAAGACTCTACCATAAAG 0.473000 41 50 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 8 190 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 4 5 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 6 12 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 9 213 --- --- --- --- CABLES1 91768 broad.mit.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr18:20716015_20716023delGGCGCCGGC ENST00000256925.7 + 1 289_297 c.289_297delGGCGCCGGC c.(289-297)del p.GAG97del CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 97 Ala-rich.|Interacts with TDRD7 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) ggccaagccgggcgccggcggcgcctgcg 0.785 5 1 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 7 119 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 8 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 231 --- --- --- --- MORC4 79710 broad.mit.edu 37 X 106186335 106186335 + Frame_Shift_Del DEL A A - TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chrX:106186335delA ENST00000355610.4 - 15 2060 c.1786delT c.(1786-1788)acfs p.Y596fs MORC4_ENST00000255495.7_Frame_Shift_Del_p.Y596fs|MORC4_ENST00000535534.1_Frame_Shift_Del_p.Y344fs NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 596 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 ACCCTCCTGTAAGGAGCAGGC 0.463 18 208 --- --- --- ---