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 JMJD1C 221037 broad.mit.edu 37 10 64973724 64973724 + Nonsense_Mutation SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr10:64973724G>A ENST00000399262.2 - 8 2421 c.2203C>T c.(2203-2205)Cag>Tag p.Q735* JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q553*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q516* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 735 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAAGGATGCTGGCTTAGGAAA 0.418000 18 93 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53580652 53580652 + Silent SNP G G T TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr8:53580652G>T ENST00000025008.5 - 8 1625 c.1102C>A c.(1102-1104)Cgg>Agg p.R368R RB1CC1_ENST00000435644.2_Silent_p.R368R|RB1CC1_ENST00000539297.1_Silent_p.R368R|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 368 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.R368R(1) NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) GCGTAGAGCCGATCTTCAAGT 0.423000 3 76 1 1 1 1 0 COLEC10 10584 broad.mit.edu 37 8 120114630 120114630 + Silent SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr8:120114630A>G ENST00000332843.2 + 4 377 c.336A>G c.(334-336)aaA>aaG p.K112K COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 112 Collagen-like. collagen|cytoplasm mannose binding p.K112K(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CTGGAGAAAAAGGCAAAGCAG 0.294000 3 88 0 0 1 0 0 SNTA1 6640 broad.mit.edu 37 20 32026782 32026782 + Silent SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr20:32026782A>G ENST00000217381.2 - 2 632 c.361T>C c.(361-363)Ttg>Ctg p.L121L NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 121 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 TCAGCTGCCAATCCCTTGAAG 0.527000 32 127 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43532379 43532379 + Silent SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr18:43532379G>A ENST00000282041.5 - 3 1273 c.1239C>T c.(1237-1239)caC>caT p.H413H NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 413 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGCCTTGCTGGTGAATTGCTG 0.393000 62 92 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 34 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 167 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 99 116 2.65435e-51 3.10753e-51 1 1 0 ZNF785 146540 broad.mit.edu 37 16 30594124 30594124 + Silent SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr16:30594124G>A ENST00000395216.2 - 3 1134 c.975C>T c.(973-975)tcC>tcT p.S325S AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.S310S NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 TGAGGAGGAGGGAAGAATAGG 0.642000 8 76 0 0 1 0 0 LRRTM2 26045 broad.mit.edu 37 5 138209408 138209408 + Missense_Mutation SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr5:138209408A>G ENST00000274711.6 - 2 1220 c.842T>C c.(841-843)aTa>aCa p.I281T CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_3'UTR|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 281 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CATGAGGAGTATTTTAAGATT 0.438000 8 271 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79952715 79952715 + Silent SNP C C T TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr17:79952715C>T ENST00000306729.7 + 5 490 c.393C>T c.(391-393)ccC>ccT p.P131P ASPSCR1_ENST00000306739.4_Silent_p.P131P|ASPSCR1_ENST00000581647.1_Silent_p.P131P|ASPSCR1_ENST00000580534.1_Silent_p.P54P NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 131 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGCAGCACCCCGGCGGGGCCA 0.647000 T TFE3 alveolar soft part sarcoma 30 64 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 3 120 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580524 49580524 + Silent SNP G G A rs139102191 byFrequency TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr12:49580524G>A ENST00000301071.7 - 2 440 c.96C>T c.(94-96)ccC>ccT p.P32P TUBA1A_ENST00000546918.1_Silent_p.P32P|TUBA1A_ENST00000550767.1_5'UTR|TUBA1A_ENST00000295766.5_Silent_p.P32P NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 32 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 TCTGGCCATCGGGCTGGATGC 0.602000 7 136 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52561526 52561526 + Silent SNP G G T rs147771144 TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr20:52561526G>T ENST00000395961.3 - 12 1856 c.1690C>A c.(1690-1692)Cgg>Agg p.R564R BCAS1_ENST00000434986.2_Silent_p.R230R|BCAS1_ENST00000371440.3_Silent_p.R573R|BCAS1_ENST00000371435.2_Silent_p.R486R NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 564 cytoplasm protein binding p.R564W(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TCCAACATCCGCTTTGGTCCC 0.478000 6 228 3.59834e-05 3.92546e-05 1 1 0 DRC1 92749 broad.mit.edu 37 2 26654829 26654829 + Silent SNP C C T TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr2:26654829C>T ENST00000288710.2 + 7 917 c.843C>T c.(841-843)tgC>tgT p.C281C DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) TCTGGGATTGCGAAGAATACA 0.512000 6 51 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430375 153430375 + Missense_Mutation SNP A A C TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr1:153430375A>C ENST00000368723.3 - 3 323 c.213T>G c.(211-213)gaT>gaG p.D71E S100A7_ENST00000368722.1_Missense_Mutation_p.D71E NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 71 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ACTCAGAAAAATCAATCTTCT 0.473000 4 118 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751149 19751149 + Missense_Mutation SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr13:19751149G>A ENST00000400113.3 - 4 1078 c.974C>T c.(973-975)cCg>cTg p.P325L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 325 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GACATCTTTCGGGACCACATC 0.542000 4 164 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161206 151161206 + Missense_Mutation SNP C C T rs139978019 by1000genomes TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr6:151161206C>T ENST00000367328.1 + 17 3644 c.3332C>T c.(3331-3333)aCg>aTg p.T1111M PLEKHG1_ENST00000358517.2_Missense_Mutation_p.T1111M NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1111 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) AGATATCCCACGTTTGAGATC 0.483000 35 47 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117122291 117122291 + Missense_Mutation SNP C C G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr1:117122291C>G ENST00000369486.3 - 10 3822 c.3057G>C c.(3055-3057)gaG>gaC p.E1019D IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D|IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1019 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) cgtcgtcgtcctcctcctcct 0.637000 3 18 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243061143 243061143 + RNA SNP A A G rs117509304 by1000genomes TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr2:243061143A>G ENST00000456398.1 + 0 491 CTTGGGAGAAACCTTTAATCG 0.358000 4 87 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2695 2695 + RNA SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chrM:2695G>A ENST00000387347.2 + 0 1025 NR_039705.1 cctgcccgtgaagaggcgggc 0.443000 4 31 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126076 31126076 + Missense_Mutation SNP T T C TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr7:31126076T>C ENST00000304166.4 + 10 1037 c.748T>C c.(748-750)Tac>Cac p.Y250H ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y250H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y229H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y250H NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 250 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CGAGGGCCTGTACCTCTTCAC 0.532000 3 44 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103197509 103197509 + Silent SNP C C A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr7:103197509C>A ENST00000424685.2 - 38 5871 c.5712G>T c.(5710-5712)acG>acT p.T1904T RELN_ENST00000428762.1_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T P78509 RELN_HUMAN reelin 1904 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAGTATATTCGTTGTTTGAG 0.403000 4 181 1 1 1 1 0 ANK2 287 broad.mit.edu 37 4 114264269 114264269 + Missense_Mutation SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr4:114264269A>G ENST00000357077.4 + 34 4272 c.4219A>G c.(4219-4221)Aaa>Gaa p.K1407E ANK2_ENST00000394537.3_Missense_Mutation_p.K1407E|ANK2_ENST00000510275.2_Missense_Mutation_p.K59E|ANK2_ENST00000506722.1_Missense_Mutation_p.K1398E|ANK2_ENST00000264366.6_Missense_Mutation_p.K1374E|ANK2_ENST00000509550.1_Missense_Mutation_p.K583E NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1374 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTTTGCCTTCAAAGAAAATAG 0.338000 30 46 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318195 40318195 + Silent SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr19:40318195A>G ENST00000593685.1 - 7 1377 c.909T>C c.(907-909)ctT>ctC p.L303L DYRK1B_ENST00000597639.1_Silent_p.L303L|DYRK1B_ENST00000430012.2_Silent_p.L303L|DYRK1B_ENST00000348817.3_Silent_p.L303L|DYRK1B_ENST00000323039.5_Silent_p.L303L Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 303 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCATCTCCACAAGGATGCAGC 0.627000 3 64 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701591 8701591 + Missense_Mutation SNP C C G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr17:8701591C>G ENST00000329805.4 - 1 1076 c.848G>C c.(847-849)cGa>cCa p.R283P NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 283 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GCTTCTGTATCGGTCAGTGGC 0.592000 10 99 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 97 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52391973 52391973 + Missense_Mutation SNP C C T TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr3:52391973C>T ENST00000420323.2 + 24 4301 c.4040C>T c.(4039-4041)aCg>aTg p.T1347M NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1347 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AAGGACCCCACGGCCGTGCAG 0.622000 3 54 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48537535 48537535 + Missense_Mutation SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr19:48537535G>A ENST00000293255.2 - 5 563 c.433C>T c.(433-435)Cgg>Tgg p.R145W NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 145 EF-hand 4. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) GAGATCTCCCGGGGGGTGAGC 0.592000 4 54 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15641610 15641610 + Missense_Mutation SNP A A G rs146288175 by1000genomes TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr17:15641610A>G ENST00000437605.2 + 7 546 c.296A>G c.(295-297)tAc>tGc p.Y99C ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000434017.1_RNA NM_178571.4 NP_848666.2 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 99 intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) CAAAGAGTATACAAAGTCATT 0.527000 3 59 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73453315 73453315 + Missense_Mutation SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr3:73453315A>G ENST00000263666.4 - 4 1264 c.1150T>C c.(1150-1152)Tat>Cat p.Y384H PDZRN3_ENST00000535920.1_Missense_Mutation_p.Y106H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Y41H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Y101H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Y41H NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 384 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGCAAGAGATAGGGATCCAGC 0.458000 3 96 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 128001313 128001313 + Silent SNP A A G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr9:128001313A>G ENST00000324460.6 - 5 1106 c.903T>C c.(901-903)tcT>tcC p.S301S NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 301 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) CTTGATGCTGAGAAGACAGGG 0.458000 Prostate(1;0.17) 34 28 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133073823 133073823 + Silent SNP G G A rs141716354 TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr6:133073823G>A ENST00000326499.6 - 4 727 c.603C>T c.(601-603)acC>acT p.T201T RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Silent_p.T148T|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 201 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TTCCAAATGCGGTGTTGAAAG 0.428000 27 209 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286142 48286142 + Missense_Mutation SNP G G A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr11:48286142G>A ENST00000320048.1 + 1 730 c.730G>A c.(730-732)Gtt>Att p.V244I NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCATGTCACAGTTGTCGACCT 0.517000 12 150 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137630645 137630645 + Silent SNP T T A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr9:137630645T>A ENST00000371817.3 + 11 1899 c.1485T>A c.(1483-1485)ccT>ccA p.P495P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 495 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGGGACCCTGGAGAAAGGG 0.577000 4 139 0 0 1 0 0 RP13-221M14.3 0 broad.mit.edu 37 1 13164130 13164131 + RNA INS - - A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr1:13164130_13164131insA ENST00000434606.1 - 0 284 TTTACTGTAACAAAAAAAAAAG 0.515 3 5 --- --- --- --- TBC1D9 23158 broad.mit.edu 37 4 141677078 141677080 + In_Frame_Del DEL CCG CCG - TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr4:141677078_141677080delCCG ENST00000442267.2 - 1 194_196 c.120_122delCGG c.(118-123)gga>gg p.GG40del NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 40 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACCCGCCAGTCCGCCGCCGCCGC 0.739 2 4 --- --- --- --- PCDHB10 0 broad.mit.edu 37 5 140574170 140574175 + In_Frame_Del DEL AGGCCG AGGCCG - rs58244182 byFrequency TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr5:140574170_140574175delAGGCCG ENST00000239446.4 + 1 2229_2234 c.2045_2050delAGGCCG c.(2044-2052)cag>c p.QAE682del NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 682 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAGGCCCAGGCCGAGGCCGACTT 0.704 10 110 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989434 42989451 + In_Frame_Del DEL CGGGGCCCGACGTCCCCG CGGGGCCCGACGTCCCCG - TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG ENST00000244496.5 + 1 52_69 c.42_59delCGGGGCCCGACGTCCCCG c.(40-60)gcc>gc p.AGARRPR14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 gggccggggccggggcccgacgtccccgcggggcccgg 0.784 3 4 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157099427 157099429 + In_Frame_Del DEL CAG CAG - TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr6:157099427_157099429delCAG ENST00000346085.5 + 1 365_367 c.364_366delCAG c.(364-366)del p.Q131del ARID1B_ENST00000367148.1_In_Frame_Del_p.Q131del|ARID1B_ENST00000350026.5_In_Frame_Del_p.Q131del|ARID1B_ENST00000275248.4_In_Frame_Del_p.Q73del NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 131 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) gcagcagcaacagcagcagcagc 0.650 2 4 --- --- --- --- GNPTAB 79158 broad.mit.edu 37 12 102158002 102158002 + Frame_Shift_Del DEL T T - TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr12:102158002delT ENST00000299314.7 - 13 2955 c.2693delA c.(2692-2694)agfs p.K898fs NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 898 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TTGGAAATACTTTTTTTTCTC 0.373 7 280 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 4 --- --- --- --- MPV17L 255027 broad.mit.edu 37 16 15490060 15490060 + Frame_Shift_Del DEL T T - TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr16:15490060delT ENST00000287594.6 + 1 450 c.306delT c.(304-306)tafs p.Y102fs RP11-1021N1.1_ENST00000568222.1_Frame_Shift_Del_p.M85fs|MPV17L_ENST00000396385.3_Frame_Shift_Del_p.Y102fs NM_173803.3 NP_776164.2 Q2QL34 MP17L_HUMAN MPV17 mitochondrial membrane protein-like 102 integral to membrane|peroxisomal membrane kidney(2)|large_intestine(1)|skin(1) 4 CGGCCTTCTATGTCGGTGAGG 0.721 2 4 --- --- --- --- BCAS3 54828 broad.mit.edu 37 17 59465980 59465981 + Splice_Site INS - - A TCGA-EM-A3OA-01A-11D-A21Z-08 TCGA-EM-A3OA-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx bae43697-a5d2-4d7f-a5e4-83f011897f7e 1c8fb071-d66d-4f56-8886-a5720badd2ff g.chr17:59465980_59465981insA ENST00000589222.1 + 25 2729_2730 c.2659_splice c.e25-1 p.GK887_splice BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585812.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTTCAAAAGGGAAAAAAAAAGG 0.441 3 5 --- --- --- ---