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 RWDD2A 112611 broad.mit.edu 37 6 83905938 83905938 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:83905938G>C ENST00000369724.4 + 3 1031 c.826G>C c.(826-828)Gag>Cag p.E276Q RWDD2A_ENST00000539997.1_Missense_Mutation_p.E222Q NM_033411.3 NP_219479.2 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 276 cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 5 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) GCACAAAAGTGAGCATGTTTT 0.363000 23 55 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 472991 472991 + Nonsense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:472991C>T ENST00000217244.3 - 9 903 c.528G>A c.(526-528)tgG>tgA p.W176* CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.W176*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.W176*|CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.W40* NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 176 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CAGCCAAACCCCAGTCTATTA 0.393000 11 43 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985651 50985651 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr18:50985651C>A ENST00000442544.2 + 24 4058 c.3442C>A c.(3442-3444)Ctc>Atc p.L1148I DCC_ENST00000581580.1_Missense_Mutation_p.L783I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1148 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCAGAAGGACCTCCGACCCCC 0.493000 70 27 1.49552e-23 1.63217e-23 1 1 0 MYLK3 91807 broad.mit.edu 37 16 46744549 46744549 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:46744549C>T ENST00000394809.4 - 11 2382 c.2267G>A c.(2266-2268)aGc>aAc p.S756N MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Splice_Site_p.S415N NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 756 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGAAAGGTACCTCTTCTCTTT 0.532000 43 101 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154562706 154562706 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:154562706C>G ENST00000368474.4 - 7 2649 c.2450G>C c.(2449-2451)aGa>aCa p.R817T ADAR_ENST00000292205.5_Missense_Mutation_p.R860T|ADAR_ENST00000368471.3_Missense_Mutation_p.R522T NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 817 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAGCATAGTTCTTCTGAGACT 0.552000 33 60 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113325677 113325677 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113325677G>A ENST00000389385.4 + 17 2009 c.1512G>A c.(1510-1512)ctG>ctA p.L504L RPH3A_ENST00000420983.2_Silent_p.L504L|RPH3A_ENST00000447659.2_Silent_p.L455L|RPH3A_ENST00000548866.1_Silent_p.L455L|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.L504L|RPH3A_ENST00000551052.1_Silent_p.L500L|RPH3A_ENST00000415485.3_Silent_p.L504L NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 504 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TCAAGAAACTGAAGCCCAACC 0.502000 63 198 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:51743211G>A ENST00000395052.3 + 2 446 c.212G>A c.(211-213)cGc>cAc p.R71H GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 71 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632000 52 202 0 0 1 0 0 LDHD 197257 broad.mit.edu 37 16 75149487 75149487 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:75149487C>T ENST00000300051.4 - 2 190 c.144G>A c.(142-144)gcG>gcA p.A48A LDHD_ENST00000450168.2_Silent_p.A48A NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 48 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 CTCGGACCACCGCGGCAGTGG 0.652000 7 38 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806346 115806346 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115806346C>T ENST00000374227.3 - 4 579 c.552G>A c.(550-552)ttG>ttA p.L184L ZFP37_ENST00000553380.1_Silent_p.L199L|ZFP37_ENST00000555206.1_Silent_p.L185L NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 184 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AATTCTGTTTCAAAATTTTTC 0.333000 39 63 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99848724 99848724 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:99848724A>G ENST00000369239.5 - 12 2314 c.2110T>C c.(2110-2112)Ttc>Ctc p.F704L PNISR_ENST00000438806.1_Missense_Mutation_p.F704L NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 704 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TGACTACTGAACTTAAAATCt 0.308000 14 29 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1551226 1551226 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:1551226G>A ENST00000301336.6 - 6 1119 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 283 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGAAGGCCGGGGACCCGGTGG 0.602000 25 36 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100118593 100118593 + Silent SNP C C T rs142575301 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:100118593C>T ENST00000330710.5 + 2 386 c.288C>T c.(286-288)gaC>gaT p.D96D HHIPL1_ENST00000357223.2_Silent_p.D96D NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 96 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) ACCTCTATGACGCCGAGGACC 0.602000 27 68 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21857887 21857887 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:21857887G>A ENST00000328843.6 + 66 10673 c.10642G>A c.(10642-10644)Gaa>Aaa p.E3548K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3541K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3548 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CATCTTAATTGAAAATCTCGA 0.328000 Kartagener syndrome 38 22 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524480 37524480 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr22:37524480G>C ENST00000216223.5 - 10 1510 c.1312C>G c.(1312-1314)Ccc>Gcc p.P438A NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 438 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGGGGGCTGGGGCCACCGAGG 0.672000 23 23 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2820448 2820448 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:2820448C>T ENST00000301740.8 + 13 8666 c.8117C>T c.(8116-8118)tCa>tTa p.S2706L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2706 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCCCAGCCCTCACCACGGGAC 0.642000 7 12 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26514993 26514993 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:26514993C>T ENST00000531191.1 + 17 1822 c.815C>T c.(814-816)tCg>tTg p.S272L CNKSR1_ENST00000374253.5_Splice_Site_p.S537L|CNKSR1_ENST00000361530.6_Splice_Site_p.S530L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 537 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CACTCAGCCTCGGTGAGTGGG 0.637000 7 13 0 0 1 0 0 MRPS16 51021 broad.mit.edu 37 10 75011600 75011600 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:75011600G>A ENST00000372945.3 - 2 405 c.195C>T c.(193-195)ctC>ctT p.L65L MRPS16_ENST00000416782.2_Silent_p.L65L|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Silent_p.L65L|DNAJC9-AS1_ENST00000440197.2_RNA NM_016065.3 NP_057149.1 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 65 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2) 4 Prostate(51;0.0119) TGAGGGCAACGAGTTTTTCTC 0.537000 50 113 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139609214 139609214 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:139609214C>T ENST00000303045.6 - 62 4812 c.e62-1 COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity p.?(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAGACTCCCCCTAGGAGGGAG 0.507000 HNSCC(7;0.00092) 44 84 0 0 1 0 0 HSDL2 84263 broad.mit.edu 37 9 115171290 115171290 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115171290C>T ENST00000398805.3 + 4 611 c.384C>T c.(382-384)ggC>ggT p.G128G HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Silent_p.G8G NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 128 peroxisome oxidoreductase activity|sterol binding NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 ACACCAGAGGCACCTACCTTG 0.418000 28 59 0 0 1 0 0 LAMP2 3920 broad.mit.edu 37 X 119589270 119589270 + Silent SNP G G A rs147369153 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:119589270G>A ENST00000371335.4 - 3 475 c.339C>T c.(337-339)agC>agT p.S113S LAMP2_ENST00000434600.2_Silent_p.S113S|LAMP2_ENST00000540603.1_Silent_p.S66S|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000200639.4_Silent_p.S113S NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 113 First lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 AAAATGAGACGCTGTCAATTG 0.403000 35 24 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73428236 73428236 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:73428236G>A ENST00000339362.5 + 6 1330 c.883G>A c.(883-885)Gaa>Aaa p.E295K NEO1_ENST00000558964.1_Missense_Mutation_p.E295K|NEO1_ENST00000560262.1_Missense_Mutation_p.E295K|NEO1_ENST00000261908.6_Missense_Mutation_p.E295K Q92859 NEO1_HUMAN neogenin 1 295 Ig-like C2-type 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ACACAGCTCTGAAAGATTGGT 0.338000 5 8 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37809815 37809815 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:37809815G>A ENST00000336308.5 + 2 249 c.31G>A c.(31-33)Gac>Aac p.D11N STARD3_ENST00000580611.1_Missense_Mutation_p.D11N|STARD3_ENST00000394250.4_Missense_Mutation_p.D11N|STARD3_ENST00000578232.1_Intron|STARD3_ENST00000544210.2_Missense_Mutation_p.D11N NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 11 cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCTGACCCGAGACTTGGAGCG 0.716000 OREG0024381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 74 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730728 140730728 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:140730728G>A ENST00000523390.1 + 1 901 c.901G>A c.(901-903)Ggc>Agc p.G301S PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAACCAATGGCACATTGGA 0.418000 47 97 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121708927 121708927 + Nonsense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:121708927C>G ENST00000452319.1 + 4 423 c.363C>G c.(361-363)taC>taG p.Y121* GLI2_ENST00000361492.4_Nonsense_Mutation_p.Y121*|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 121 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCACCCGTACGTGAACCCCC 0.657000 8 84 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37336557 37336557 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:37336557C>G ENST00000361924.2 + 6 1044 c.670C>G c.(670-672)Ctc>Gtc p.L224V GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L246V NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 224 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TATCAGTGTTCTCCAAACTCA 0.363000 36 85 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25267711 25267711 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:25267711C>G ENST00000276440.7 + 51 5545 c.5501C>G c.(5500-5502)tCc>tGc p.S1834C NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1834 Pro-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CAGAGGAACTCCACTGAGGTA 0.592000 15 29 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468686 56468686 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:56468686T>C ENST00000288221.6 - 2 605 c.350A>G c.(349-351)tAc>tGc p.Y117C NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 117 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTGATCTGTGTATGAAAGGAC 0.507000 69 174 0 0 1 0 0 NOP9 161424 broad.mit.edu 37 14 24769970 24769970 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:24769970C>T ENST00000267425.3 + 2 697 c.604C>T c.(604-606)Cat>Tat p.H202Y NOP9_ENST00000396802.3_Missense_Mutation_p.H202Y NM_174913.1 NP_777573.1 NOP9 nucleolar protein TGGAGACACACATGGCAGCTT 0.547000 54 107 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649892 73649892 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:73649892C>T ENST00000377687.4 + 4 1778 c.1242C>T c.(1240-1242)ttC>ttT p.F414F KLF5_ENST00000539231.1_Silent_p.F323F NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 414 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) ACTGGAGGTTCGCGCGATCGG 0.582000 43 108 0 0 1 0 0 TSPAN6 7105 broad.mit.edu 37 X 99888429 99888429 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:99888429C>T ENST00000373020.4 - 5 669 c.558G>A c.(556-558)caG>caA p.Q186Q TSPAN6_ENST00000496771.1_5'UTR NM_001278740.1|NM_001278741.1|NM_003270.2 NP_001265669.1|NP_001265670.1|NP_003261.1 O43657 TSN6_HUMAN tetraspanin 6 186 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|ovary(1) 12 CTGCATCTCTCTGTGGAGTAC 0.338000 29 19 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805288 115805288 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115805288C>G ENST00000374227.3 - 4 1637 c.1610G>C c.(1609-1611)aGa>aCa p.R537T ZFP37_ENST00000553380.1_Missense_Mutation_p.R552T|ZFP37_ENST00000555206.1_Missense_Mutation_p.R538T NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 537 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGTATGAACTCTCTGATGTTG 0.403000 30 47 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338307 13338307 + RNA SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:13338307G>A ENST00000602906.1 + 0 325 kidney(3)|lung(1) 4 GTTGGACAGTGGTAAAGAGCT 0.428000 20 33 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95718600 95718600 + RNA SNP T T C rs11815169 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:95718600T>C ENST00000480546.1 - 0 2697 NR_002319.2 TCCTTCTTGCTGTCCTTGGTG 0.547000 5 74 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33162908 33162908 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:33162908C>T ENST00000374820.2 - 10 1154 c.1134G>A c.(1132-1134)caG>caA p.Q378Q PIGU_ENST00000452740.2_Splice_Site_p.Q398Q Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 398 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 TCCCTCTTACCTGCCCAACGT 0.522000 37 81 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887651 3887651 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:3887651G>A ENST00000319331.3 + 2 2087 c.1326G>A c.(1324-1326)acG>acA p.T442T SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 442 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCGGCACGACGGTTTTCCTAG 0.448000 31 102 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89629441 89629441 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:89629441G>T ENST00000393099.3 + 5 876 c.627G>T c.(625-627)aaG>aaT p.K209N RPL13_ENST00000567815.1_Missense_Mutation_p.K209N|RPL13_ENST00000452368.3_Missense_Mutation_p.K162N|RPL13_ENST00000311528.5_Missense_Mutation_p.K209N NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 209 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) ATGTTGAAAAGAAAAAATAAA 0.557000 12 21 2.10051e-16 2.21377e-16 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124348479 124348479 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:124348479C>T ENST00000368909.3 + 17 1909 c.1803C>T c.(1801-1803)gcC>gcT p.A601A DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.A591A|DMBT1_ENST00000368955.3_Silent_p.A591A|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Silent_p.A601A NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 601 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGTTTGGCCCTGAGGCTGG 0.542000 8 5 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137815072 137815072 + Missense_Mutation SNP T T A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:137815072T>A ENST00000367734.2 - 1 459 c.236A>T c.(235-237)cAg>cTg p.Q79L NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CTGTAGGTCCTGCTCCGACAG 0.597000 63 120 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7774363 7774363 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:7774363G>A ENST00000358415.4 + 14 1876 c.1710G>A c.(1708-1710)tcG>tcA p.S570S ITIH2_ENST00000379587.4_Silent_p.S559S NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 570 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATTTTCTATCGAAAGACAAGC 0.483000 13 43 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488345 103488345 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:103488345C>G ENST00000358392.2 - 8 1551 c.1234G>C c.(1234-1236)Gaa>Caa p.E412Q COL11A1_ENST00000353414.4_Missense_Mutation_p.E361Q|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.E400Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 400 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCAAATTCTTCATTAGGG 0.363000 28 81 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 10 50 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95884264 95884264 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:95884264G>A ENST00000334258.5 - 17 2841 c.2827C>T c.(2827-2829)Ctg>Ttg p.L943L SYNE3_ENST00000557275.1_Silent_p.L938L|SYNE3_ENST00000554873.1_Silent_p.L700L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 ATTGGGagcaggaacagcagg 0.647000 47 74 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407474 55407474 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:55407474C>A ENST00000341048.4 - 10 1252 c.1101G>T c.(1099-1101)agG>agT p.R367S ANKRD55_ENST00000434982.2_Missense_Mutation_p.R79S|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R324S|ANKRD55_ENST00000505970.2_5'UTR NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 366 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGTATCGGTCCCTGCTGGGAT 0.507000 81 185 4.45923e-32 4.91658e-32 1 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188665 140188665 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:140188665C>T ENST00000530339.1 + 1 1893 c.1893C>T c.(1891-1893)atC>atT p.I631I PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.I631I|PCDHA4_ENST00000356878.4_Silent_p.I631I|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCGAGATCAGCACAACGC 0.682000 59 132 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468622 35468622 + Silent SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:35468622G>C ENST00000608209.1 + 2 1637 c.1125G>C c.(1123-1125)ctG>ctC p.L375L MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.L375L|AP000320.7_ENST00000362077.4_RNA NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TTGCAGCTCTGATGAGTGACT 0.493000 24 45 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130217858 130217858 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:130217858C>G ENST00000323301.4 + 4 737 c.133C>G c.(133-135)Cca>Gca p.P45A LRSAM1_ENST00000300417.6_Missense_Mutation_p.P45A|LRSAM1_ENST00000373322.1_Missense_Mutation_p.P45A|LRSAM1_ENST00000373324.4_Missense_Mutation_p.P45A NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 45 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 ATCTTAGATTCCATTTGGAGC 0.438000 29 60 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240061422 240061422 + Silent SNP C C T rs138989369 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:240061422C>T ENST00000345617.3 - 9 1727 c.936G>A c.(934-936)gcG>gcA p.A312A HDAC4_ENST00000541256.1_Silent_p.A281A|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 312 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding p.A312A(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TACCGTTCTCCGCGCTGACGC 0.662000 11 124 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8056618 8056618 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:8056618G>T ENST00000344293.5 + 7 2900 c.2694G>T c.(2692-2694)atG>atT p.M898I NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 898 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TTGGAATCATGACTGCACCCC 0.448000 3 18 6.4e-05 6.46009e-05 1 1 0 FGR 2268 broad.mit.edu 37 1 27943478 27943478 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:27943478C>G ENST00000374005.3 - 7 860 c.572G>C c.(571-573)aGa>aCa p.R191T FGR_ENST00000399173.1_Missense_Mutation_p.R191T|FGR_ENST00000374004.1_Missense_Mutation_p.R191T|FGR_ENST00000545953.1_Missense_Mutation_p.R125T NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 191 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ATGATCGCCTCTGGTCTGATC 0.557000 50 94 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 16 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99522006 99522006 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:99522006C>T ENST00000375231.1 - 6 1756 c.1106G>A c.(1105-1107)aGa>aAa p.R369K ZNF510_ENST00000223428.4_Missense_Mutation_p.R369K Q9Y2H8 ZN510_HUMAN zinc finger protein 510 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) AGTCTGTGTTCTGTCATTACT 0.388000 56 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610937 179610937 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:179610937G>A ENST00000360870.5 - 46 16412 c.16190C>T c.(16189-16191)gCt>gTt p.A5397V TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8905 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGAATACAGCATCTGAATT 0.328000 23 30 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657782 143657782 + Missense_Mutation SNP C C A rs73464588 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:143657782C>A ENST00000392899.1 + 1 756 c.719C>A c.(718-720)aCg>aAg p.T240K NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) GCTTTCCACACGTGTGCCTCT 0.507000 80 90 8.70839e-23 9.40856e-23 1 1 0 SLC5A5 6528 broad.mit.edu 37 19 17992856 17992856 + Missense_Mutation SNP A A T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:17992856A>T ENST00000222248.3 + 9 1493 c.1146A>T c.(1144-1146)aaA>aaT p.K382N NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 382 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CACCCAGGAAACTCGTGATTA 0.577000 28 52 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52568806 52568806 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:52568806G>A ENST00000389534.4 - 7 2788 c.2329C>T c.(2329-2331)Cgc>Tgc p.R777C ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|ZNF841_ENST00000426391.2_Missense_Mutation_p.R661C|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 AGGCCTGAGCGATAACGGAAG 0.428000 15 29 0 0 1 0 0 REEP2 51308 broad.mit.edu 37 5 137777134 137777134 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:137777134G>A ENST00000378339.2 + 3 358 c.166G>A c.(166-168)Gat>Aat p.D56N REEP2_ENST00000254901.5_Missense_Mutation_p.D56N|REEP2_ENST00000506158.1_Missense_Mutation_p.D18N|REEP2_ENST00000464751.2_3'UTR NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 56 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACGCTCACGGATATAGTGCT 0.602000 29 57 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135555086 135555086 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:135555086G>A ENST00000372146.4 + 2 2644 c.2080G>A c.(2080-2082)Gaa>Aaa p.E694K NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 694 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AGTCTTAGGAGAAGTGTATCT 0.478000 30 53 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110830437 110830437 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:110830437C>T ENST00000375820.4 - 32 2721 c.2600G>A c.(2599-2601)gGg>gAg p.G867E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 867 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCCAGGAGCCCCCTGCTGTCC 0.547000 50 109 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149900044 149900044 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:149900044G>A ENST00000445323.2 + 9 965 c.844G>A c.(844-846)Gat>Aat p.D282N MTMR1_ENST00000541925.1_Missense_Mutation_p.D180N|MTMR1_ENST00000544228.1_Missense_Mutation_p.D274N|MTMR1_ENST00000370390.3_Missense_Mutation_p.D274N|MTMR1_ENST00000451863.2_Missense_Mutation_p.D274N|MTMR1_ENST00000538506.1_Missense_Mutation_p.D161N|MTMR1_ENST00000542156.1_Missense_Mutation_p.D274N Q13613 MTMR1_HUMAN myotubularin related protein 1 274 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGTAAAAGATGATGACCTTTC 0.358000 52 30 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46766181 46766181 + Silent SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:46766181C>A ENST00000394809.4 - 4 1516 c.1401G>T c.(1399-1401)ccG>ccT p.P467P MYLK3_ENST00000536476.1_Silent_p.P126P NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 467 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CAGCTCTCACCGGAGCCCTGG 0.657000 32 61 5.60225e-13 5.84701e-13 1 1 0 FOXC1 2296 broad.mit.edu 37 6 1612318 1612318 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:1612318C>T ENST00000380874.2 + 1 1638 c.1638C>T c.(1636-1638)ttC>ttT p.F546F NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 546 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) CCGGAGCTTTCGTCTACGACT 0.498000 14 21 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36760817 36760817 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:36760817G>A ENST00000361475.2 - 11 1874 c.1701C>T c.(1699-1701)ctC>ctT p.L567L TGM2_ENST00000536724.1_Silent_p.L507L|TGM2_ENST00000536701.1_Silent_p.L486L NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 567 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CTGGCTCCACGAGGAGGGCCC 0.557000 93 216 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690055 96690055 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:96690055C>T ENST00000434632.1 - 17 2159 c.1700G>A c.(1699-1701)aGa>aAa p.R567K GPAT2_ENST00000453542.1_Missense_Mutation_p.R496K|GPAT2_ENST00000377137.3_Missense_Mutation_p.R567K|GPAT2_ENST00000359548.4_Missense_Mutation_p.R567K Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 567 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 GGGCGGCACTCTGCCTGCCAG 0.642000 25 23 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561150 32561150 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:32561150G>C ENST00000345122.3 + 2 1590 c.1275G>C c.(1273-1275)aaG>aaC p.K425N ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K425N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K425N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K425N|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 425 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TATCCGAGAAGAGGAGGGTGG 0.393000 38 58 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6862671 6862671 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:6862671C>G ENST00000307659.5 + 7 1017 c.562C>G c.(562-564)Ctg>Gtg p.L188V KIAA0232_ENST00000425103.1_Missense_Mutation_p.L188V NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 188 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 ACCAGTTTGCCTGCAAGAAAT 0.408000 50 97 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506961 74506961 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:74506961C>A ENST00000354431.4 - 7 1845 c.1654G>T c.(1654-1656)Gtt>Ttt p.V552F LRRIQ3_ENST00000395089.1_Missense_Mutation_p.V552F NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 552 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTGCTTAACAATCAGGCTT 0.313000 32 45 2.2171e-23 2.40746e-23 1 1 0 SLC8B1 80024 broad.mit.edu 37 12 113742153 113742153 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113742153C>T ENST00000552014.1 - 16 2045 c.1530G>A c.(1528-1530)caG>caA p.Q510Q SLC8B1_ENST00000202831.3_Silent_p.Q510Q|SLC8B1_ENST00000546737.1_Silent_p.Q454Q|SLC8B1_ENST00000550047.1_Silent_p.Q25Q|SLC8B1_ENST00000549069.1_Silent_p.Q69Q solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 510 TTCGGGAGATCTGGAGCAGGC 0.542000 48 182 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169566333 169566333 + Missense_Mutation SNP G G A rs143148749 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:169566333G>A ENST00000263686.6 - 11 1824 c.1787C>T c.(1786-1788)tCc>tTc p.S596F SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.S534F|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.S534F|SELP_ENST00000367788.2_Missense_Mutation_p.S534F|SELP_ENST00000367786.2_Missense_Mutation_p.S534F NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 596 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATGGCAGGTGGAGCCAACATT 0.498000 29 33 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129794495 129794495 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:129794495G>C ENST00000421865.2 + 52 7486 c.7437G>C c.(7435-7437)ttG>ttC p.L2479F NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2479 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAGAAACTTGAGGTAATTTA 0.333000 26 48 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3297033 3297033 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:3297033C>T ENST00000219596.1 - 5 1609 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K MEFV_ENST00000541159.1_Missense_Mutation_p.E313K|MEFV_ENST00000339854.4_Missense_Mutation_p.E344K|MEFV_ENST00000536379.1_Missense_Mutation_p.E313K NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 524 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) AGTTCCCATTCTGACTGGCAC 0.617000 51 74 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383320 61383320 + RNA SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr18:61383320G>A ENST00000544088.1 + 0 471 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GCAAACTGTGGATTTTGAACA 0.343000 18 10 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203194936 203194936 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:203194936G>A ENST00000367229.1 - 3 152 c.118C>T c.(118-120)Cgc>Tgc p.R40C CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R40C|CHIT1_ENST00000535569.1_Missense_Mutation_p.R50C NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 40 R -> H (in dbSNP:rs35920428). chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity p.R40C(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGCAGGAAGCGAGCCTCCCCC 0.577000 32 52 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95813572 95813572 + Missense_Mutation SNP C C T rs146708960 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:95813572C>T ENST00000376887.4 - 19 2440 c.2326G>A c.(2326-2328)Gtt>Att p.V776I ABCC4_ENST00000536256.1_Missense_Mutation_p.V701I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V729I|ABCC4_ENST00000431522.1_Missense_Mutation_p.V776I NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 776 ABC transmembrane type-1 2. V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type). platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCAAAAAGAACGGTAGCTACA 0.358000 10 39 0 0 1 0 0 TMX2 51075 broad.mit.edu 37 11 57505121 57505121 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:57505121G>A ENST00000278422.4 + 2 243 c.231G>A c.(229-231)atG>atA p.M77I TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.M77I|TMX2_ENST00000378312.4_Missense_Mutation_p.M77I NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 77 cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 CCATTGTGATGATGAAGAACC 0.433000 13 32 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24826603 24826603 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:24826603C>G ENST00000395799.3 + 19 4937 c.4808C>G c.(4807-4809)tCt>tGt p.S1603C CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1554C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.S81C NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1603 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CCTAACGGCTCTAGCAGTGTT 0.433000 26 34 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136337 134136337 + Missense_Mutation SNP T T G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:134136337T>G ENST00000372271.3 - 2 1091 c.724A>C c.(724-726)Atc>Ctc p.I242L FAM78A_ENST00000372269.3_Missense_Mutation_p.I239L|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 242 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TTGCTCAGGATTTTGGGCTGG 0.682000 58 111 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62813863 62813863 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:62813863T>C ENST00000512091.2 + 16 3217 c.2470T>C c.(2470-2472)Tcc>Ccc p.S824P LPHN3_ENST00000508946.1_Missense_Mutation_p.S824P|LPHN3_ENST00000507625.1_Missense_Mutation_p.S892P|LPHN3_ENST00000506700.1_Missense_Mutation_p.S824P|LPHN3_ENST00000504896.1_Missense_Mutation_p.S824P|LPHN3_ENST00000511324.1_Missense_Mutation_p.S892P|LPHN3_ENST00000514996.1_Missense_Mutation_p.S824P|LPHN3_ENST00000506720.1_Missense_Mutation_p.S892P|LPHN3_ENST00000508693.1_Missense_Mutation_p.S892P|LPHN3_ENST00000545650.1_Missense_Mutation_p.S824P|LPHN3_ENST00000509896.1_Missense_Mutation_p.S892P|LPHN3_ENST00000506746.1_Missense_Mutation_p.S892P|LPHN3_ENST00000507164.1_Missense_Mutation_p.S892P|LPHN3_ENST00000514591.1_Missense_Mutation_p.S824P|LPHN3_ENST00000514157.1_Missense_Mutation_p.S824P Q9HAR2 LPHN3_HUMAN latrophilin 3 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGGAGCTACTCCAAGCGTAC 0.373000 6 15 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103368593 103368593 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:103368593C>T ENST00000424685.2 - 7 877 c.718G>A c.(718-720)Gtc>Atc p.V240I RELN_ENST00000343529.5_Missense_Mutation_p.V240I|RELN_ENST00000428762.1_Missense_Mutation_p.V240I P78509 RELN_HUMAN reelin 240 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) CAGAAGGTGACGGCATTGCCA 0.433000 50 59 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15542459 15542459 + Splice_Site SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:15542459G>A ENST00000424120.1 + 17 2257 c.e17-1 CC2D2A_ENST00000413206.1_Splice_Site|CC2D2A_ENST00000503292.1_Splice_Site|CC2D2A_ENST00000513811.1_Splice_Site|CC2D2A_ENST00000389652.5_Splice_Site Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 TCCTTTTGCAGAGCGGAGGTC 0.433000 3 10 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991418 47991418 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:47991418G>A ENST00000371741.4 - 2 845 c.679C>T c.(679-681)Ccc>Tcc p.P227S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 227 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCAGCTGGGGGTTGTCTGTG 0.572000 31 41 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60750068 60750068 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:60750068C>T ENST00000395076.4 + 2 1077 c.647C>T c.(646-648)tCa>tTa p.S216L PPM1A_ENST00000325642.3_Missense_Mutation_p.S289L|PPM1A_ENST00000325658.3_Missense_Mutation_p.S216L|PPM1A_ENST00000529574.1_Missense_Mutation_p.S216L NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 216 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) CAGCTTGTCTCACCAGAGCCT 0.443000 55 112 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471179 75471179 + RNA SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:75471179T>C ENST00000459803.1 - 0 1962 NR_024241.1 TTCTCAAACTTTCCTGATCCT 0.552000 19 19 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53897698 53897698 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:53897698T>C ENST00000263634.3 - 10 1633 c.1499A>G c.(1498-1500)tAt>tGt p.Y500C GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Y427C|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Y538C|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Y427C|ASB3_ENST00000406625.2_Missense_Mutation_p.Y535C NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 535 intracellular signal transduction AACGTCTTCATAGAGCAAATA 0.388000 11 35 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750250 94750250 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:94750250G>T ENST00000306011.3 + 1 209 c.173G>T c.(172-174)aGc>aTc p.S58I NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 58 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) CTCCTGGACAGCACCGACCCA 0.677000 27 47 1.16021e-09 1.19925e-09 1 1 0 POLRMT 5442 broad.mit.edu 37 19 619039 619039 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:619039G>A ENST00000588649.2 - 15 3309 c.3225C>T c.(3223-3225)ggC>ggT p.G1075G NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 1075 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGACGGGGACGCCCAGGGGTG 0.647000 20 21 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993238 140993238 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:140993238G>C ENST00000285879.4 + 4 334 c.48G>C c.(46-48)caG>caC p.Q16H MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 16 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTCTCCAGAGTTCCTCTG 0.552000 HNSCC(15;0.026) 45 48 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197726164 197726164 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:197726164C>G ENST00000330198.4 + 11 1205 c.1183C>G c.(1183-1185)Cag>Gag p.Q395E LMLN_ENST00000482695.1_Missense_Mutation_p.Q343E|LMLN_ENST00000332636.5_Missense_Mutation_p.Q343E|LMLN_ENST00000420910.2_Missense_Mutation_p.Q395E NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 395 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TTCTCACACTCAGAATCGAGT 0.388000 17 58 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63128203 63128203 + Silent SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:63128203C>G ENST00000561311.1 + 56 7535 c.7305C>G c.(7303-7305)tcC>tcG p.S2435S TLN2_ENST00000306829.6_Silent_p.S2435S|RP11-1069G10.1_ENST00000558404.1_RNA Q9Y4G6 TLN2_HUMAN talin 2 2435 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TCGCCGCTTCCACGGCTCAGC 0.612000 14 25 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102586120 102586120 + Silent SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:102586120A>G ENST00000236826.3 - 7 1049 c.951T>C c.(949-951)ttT>ttC p.F317F NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 317 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ATAGAGAAATAAAATTCATTT 0.383000 18 16 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30200815 30200815 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr22:30200815C>T ENST00000397771.2 - 14 1342 c.1165G>A c.(1165-1167)Gag>Aag p.E389K ASCC2_ENST00000542393.1_Missense_Mutation_p.E313K|ASCC2_ENST00000307790.3_Missense_Mutation_p.E389K Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GTCCGCGTCTCGTCCCTGTGA 0.547000 97 315 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15789243 15789243 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:15789243C>T ENST00000359621.4 + 4 268 c.243C>T c.(241-243)taC>taT p.Y81Y NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 81 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CCAGGACCTACCGCGTGGGGC 0.612000 43 81 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16067768 16067768 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:16067768T>C ENST00000332432.8 - 4 1220 c.1021A>G c.(1021-1023)Agt>Ggt p.S341G NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 341 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 AAAGTCCTACTTGTGGAAGAC 0.473000 28 62 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123983602 123983602 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:123983602T>C ENST00000306315.5 - 4 2910 c.2475A>G c.(2473-2475)aaA>aaG p.K825K ZNF608_ENST00000504926.1_Silent_p.K398K NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 825 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTCCCGTCTCTTTCCCTTCTT 0.473000 76 174 0 0 1 0 0 DUSP9 1852 broad.mit.edu 37 X 152915679 152915679 + Silent SNP G G T rs139744131 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:152915679G>T ENST00000342782.3 + 4 1339 c.1074G>T c.(1072-1074)ggG>ggT p.G358G DUSP9_ENST00000370167.4_Silent_p.G358G Q99956 DUS9_HUMAN dual specificity phosphatase 9 358 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGTGGGGGGCAGGCATCTG 0.672000 7 117 0.00198382 0.00199309 1 1 0 GDPD4 220032 broad.mit.edu 37 11 76944073 76944073 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944073G>A ENST00000315938.4 - 13 1636 c.1386C>T c.(1384-1386)ttC>ttT p.F462F GDPD4_ENST00000376217.2_Silent_p.F462F NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 462 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 AGCTCACCATGAAGAAGTGAG 0.557000 13 43 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77357255 77357255 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:77357255C>G ENST00000296043.6 + 1 1003 c.50C>G c.(49-51)tCt>tGt p.S17C NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 17 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACATTAAACTCTAACACGGCC 0.483000 66 131 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127439916 127439916 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:127439916C>G ENST00000434178.2 - 5 1356 c.460G>C c.(460-462)Gaa>Caa p.E154Q MGLL_ENST00000398101.3_Missense_Mutation_p.E128Q|MGLL_ENST00000453507.2_Missense_Mutation_p.E164Q|MGLL_ENST00000265052.5_Missense_Mutation_p.E164Q|MGLL_ENST00000398104.1_Missense_Mutation_p.E154Q Q99685 MGLL_HUMAN monoglyceride lipase 154 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GTTGCAGATTCAGGATTGGCA 0.537000 26 85 0 0 1 0 0 RNASE3 6037 broad.mit.edu 37 14 21359944 21359944 + Silent SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:21359944G>T ENST00000304639.3 + 2 157 c.99G>T c.(97-99)acG>acT p.T33T NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 33 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CACAGTTTACGAGGGCTCAGT 0.507000 47 109 3.70713e-34 4.10842e-34 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61541160 61541160 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr20:61541160G>A ENST00000266070.4 - 4 1377 c.1052C>T c.(1051-1053)aCa>aTa p.T351I DIDO1_ENST00000370366.1_Missense_Mutation_p.T351I|DIDO1_ENST00000395343.1_Missense_Mutation_p.T351I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T351I|DIDO1_ENST00000395335.2_Missense_Mutation_p.T351I|DIDO1_ENST00000354665.4_Missense_Mutation_p.T351I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T351I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T351I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T351I NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 351 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCCTATACTTGTACAATCGGT 0.453000 69 102 0 0 1 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906580 32906580 + Missense_Mutation SNP G G A rs12176347 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:32906580G>A ENST00000416244.2 - 2 412 c.218C>T c.(217-219)gCg>gTg p.A73V XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.A105V|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A73V P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 73 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GAGGACATTCGCCAAGCTATT 0.527000 47 80 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72517796 72517796 + Missense_Mutation SNP G G A rs146237817 byFrequency TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:72517796G>A ENST00000373208.1 + 20 3025 c.3025G>A c.(3025-3027)Gag>Aag p.E1009K ADAMTS14_ENST00000373207.1_Missense_Mutation_p.E1006K NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1006 TSP type-1 4. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CGGGCATTGCGAGGGGGATAG 0.667000 6 79 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 71 5.18039e-06 5.2786e-06 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73717138 73717138 + Silent SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:73717138A>G ENST00000264448.6 + 10 8160 c.8049A>G c.(8047-8049)gtA>gtG p.V2683V ALMS1_ENST00000409009.1_Silent_p.V2641V NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2683 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CAGAATTAGTAGAACCTGCTT 0.398000 173 126 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688159 27688159 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:27688159G>A ENST00000438700.3 - 4 1485 c.1368C>T c.(1366-1368)gtC>gtT p.V456V NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 456 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ACATGTCATCGACCCCAACAC 0.358000 18 30 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27398722 27398722 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:27398722G>T ENST00000379214.4 - 12 1535 c.1092C>A c.(1090-1092)tgC>tgA p.C364* LGR4_ENST00000389858.4_Nonsense_Mutation_p.C340* NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 364 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 CCAGAGCATGGCAACCATTAA 0.308000 28 47 5.77227e-19 6.17432e-19 1 1 0 C8orf44 56260 broad.mit.edu 37 8 67590131 67590131 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:67590131A>G ENST00000519561.1 + 2 339 c.188A>G c.(187-189)aAa>aGa p.K63R C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44_ENST00000390159.3_Missense_Mutation_p.K63R|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000521889.1_Missense_Mutation_p.K63R NM_019607.2 NP_062553.1 Q96CB5 CH044_HUMAN chromosome 8 open reading frame 44 63 endometrium(1)|kidney(1)|lung(2) 4 Breast(64;0.186) Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149) aggagttcgaaaccagcctgg 0.532000 5 29 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275799 17275799 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:17275799C>T ENST00000322611.3 + 2 734 c.474C>T c.(472-474)gcC>gcT p.A158A NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 158 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 CAGCTCCTGCCGCCCAGGAGA 0.711000 6 15 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649881 73649881 + Missense_Mutation SNP G G T rs144543104 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:73649881G>T ENST00000377687.4 + 4 1767 c.1231G>T c.(1231-1233)Gac>Tac p.D411Y KLF5_ENST00000539231.1_Missense_Mutation_p.D320Y NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 411 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GGAAGGCTGCGACTGGAGGTT 0.577000 54 137 9.90819e-18 1.04939e-17 1 1 0 PDP1 54704 broad.mit.edu 37 8 94934630 94934630 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:94934630A>G ENST00000396200.3 + 3 694 c.418A>G c.(418-420)Aat>Gat p.N140D PDP1_ENST00000520728.1_Missense_Mutation_p.N115D|PDP1_ENST00000517764.1_Missense_Mutation_p.N115D|PDP1_ENST00000297598.4_Missense_Mutation_p.N115D NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 115 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 ATTTGACAGCAATCAGCTGCC 0.468000 41 117 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407475 55407475 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:55407475C>A ENST00000341048.4 - 10 1251 c.1100G>T c.(1099-1101)aGg>aTg p.R367M ANKRD55_ENST00000434982.2_Missense_Mutation_p.R79M|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R324M|ANKRD55_ENST00000505970.2_5'UTR NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 366 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GTATCGGTCCCTGCTGGGATC 0.502000 78 185 1.86864e-30 2.04979e-30 1 1 0 GDPD4 220032 broad.mit.edu 37 11 76944076 76944076 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944076G>A ENST00000315938.4 - 13 1633 c.1383C>T c.(1381-1383)ttC>ttT p.F461F GDPD4_ENST00000376217.2_Silent_p.F461F NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 461 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 TCACCATGAAGAAGTGAGGGT 0.547000 13 43 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66915581 66915581 + Missense_Mutation SNP A A G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:66915581A>G ENST00000269080.2 - 13 1786 c.1649T>C c.(1648-1650)aTg>aCg p.M550T ABCA8_ENST00000586539.1_Missense_Mutation_p.M550T|ABCA8_ENST00000430352.2_Missense_Mutation_p.M550T NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 550 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TAGGTCAGCCATTTCTGAAAG 0.368000 19 82 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54871634 54871634 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:54871634G>A ENST00000391743.3 - 3 636 c.356C>T c.(355-357)tCa>tTa p.S119L LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000434277.2_Missense_Mutation_p.S136L|LAIR1_ENST00000391742.2_Missense_Mutation_p.S137L|LAIR1_ENST00000313038.6_Missense_Mutation_p.S130L Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 137 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CTGACCAGCTGAGGAGCCGGG 0.627000 12 30 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 22 33 0 0 1 0 0 NSF 4905 broad.mit.edu 37 17 44827187 44827187 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:44827187C>A ENST00000398238.4 + 18 2064 c.1957C>A c.(1957-1959)Cag>Aag p.Q653K NSF_ENST00000225282.8_Missense_Mutation_p.Q559K|NSF_ENST00000575068.1_Missense_Mutation_p.Q648K NM_006178.3 NP_006169.2 P46459 NSF_HUMAN N-ethylmaleimide-sensitive factor 653 protein transport|synaptic transmission cytosol ATP binding|metal ion binding kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) AGATGTCCTTCAGGAGATGGA 0.448000 29 109 6.00712e-18 6.39372e-18 1 1 0 CD5 921 broad.mit.edu 37 11 60892591 60892591 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:60892591C>A ENST00000347785.3 + 9 1533 c.1367C>A c.(1366-1368)cCt>cAt p.P456H NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 456 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TACAGCCAACCTCCCAGGAAC 0.617000 22 39 3.10358e-05 3.1475e-05 1 1 0 PASK 23178 broad.mit.edu 37 2 242065894 242065894 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:242065894C>T ENST00000403638.3 - 10 2527 c.2436G>A c.(2434-2436)cgG>cgA p.R812R PASK_ENST00000405260.1_Silent_p.R812R|PASK_ENST00000544142.1_Silent_p.R626R|PASK_ENST00000234040.4_Silent_p.R812R|PASK_ENST00000539818.1_Silent_p.R596R|PASK_ENST00000358649.4_Silent_p.R812R NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 812 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TCTCCCGGAACCGTCGGCCTT 0.562000 31 33 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38475976 38475976 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:38475976C>T ENST00000356264.2 - 12 1245 c.1030G>A c.(1030-1032)Gag>Aag p.E344K AMPH_ENST00000428293.2_Missense_Mutation_p.E344K|AMPH_ENST00000325590.5_Missense_Mutation_p.E344K NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 344 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTCTTCACCTCAGGGACTTCA 0.428000 32 33 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760727 186760727 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:186760727G>T ENST00000169298.3 + 4 910 c.236G>T c.(235-237)gGc>gTc p.G79V ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G79V|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 79 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CAGACCCTCGGCAGTCTCAGA 0.567000 43 137 9.85913e-13 1.02402e-12 1 1 0 ASPG 374569 broad.mit.edu 37 14 104552113 104552113 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:104552113G>A ENST00000551177.1 + 1 98 c.6G>A c.(4-6)gcG>gcA p.A2A ASPG_ENST00000455920.2_Silent_p.A2A|ASPG_ENST00000546892.2_Silent_p.A2A NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 2 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CCGGCATGGCGCGCGCGGTGG 0.771000 8 15 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136107676 136107676 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:136107676C>G ENST00000401392.1 - 5 681 c.469G>C c.(469-471)Gat>Cat p.D157H ZRANB3_ENST00000536680.1_Missense_Mutation_p.D157H|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D157H Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 157 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TGTGATTCATCCACTATAACT 0.408000 12 14 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54793159 54793159 + Missense_Mutation SNP A A C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:54793159A>C ENST00000545554.1 + 21 5284 c.5284A>C c.(5284-5286)Atg>Ctg p.M1762L UNC13C_ENST00000537900.1_Missense_Mutation_p.M1760L|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1762L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1762 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCTCACTTAATGAGAAGATT 0.368000 44 75 0 0 1 0 0 PDCD2L 84306 broad.mit.edu 37 19 34895679 34895679 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:34895679C>T ENST00000246535.3 + 2 281 c.234C>T c.(232-234)ttC>ttT p.F78F RP11-618P17.4_ENST00000606020.1_Silent_p.F73F NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 78 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGCACGTGTTCGCGTGCGCCT 0.711000 10 10 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204923365 204923365 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:204923365C>T ENST00000367172.4 + 6 593 c.265C>T c.(265-267)Cgg>Tgg p.R89W NFASC_ENST00000360049.4_Missense_Mutation_p.R83W|NFASC_ENST00000339876.6_Missense_Mutation_p.R89W|NFASC_ENST00000367171.4_Missense_Mutation_p.R89W|NFASC_ENST00000401399.1_Missense_Mutation_p.R89W|NFASC_ENST00000338515.6_Missense_Mutation_p.R89W|NFASC_ENST00000404907.1_Missense_Mutation_p.R83W|NFASC_ENST00000367170.4_Missense_Mutation_p.R89W|NFASC_ENST00000404076.1_Missense_Mutation_p.R83W|NFASC_ENST00000513543.1_Missense_Mutation_p.R83W|NFASC_ENST00000367169.4_Missense_Mutation_p.R89W|NFASC_ENST00000338586.6_Missense_Mutation_p.R89W|NFASC_ENST00000403080.1_Missense_Mutation_p.R89W|NFASC_ENST00000539706.1_Missense_Mutation_p.R83W O94856 NFASC_HUMAN neurofascin 89 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAAGGACCCCCGGGTGTCCAT 0.602000 19 53 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101436252 101436252 + RNA SNP A A T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:101436252A>T ENST00000554693.2 + 0 299 SNORD114-13_ENST00000364377.1_RNA TATGAGTCATACACATGAACA 0.393000 7 22 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55023818 55023818 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:55023818G>A ENST00000240316.4 - 5 1577 c.1543C>T c.(1543-1545)Ctt>Ttt p.L515F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 515 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) AAGGATGAAAGAATTTCTATA 0.328000 47 161 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805738 115805738 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115805738C>G ENST00000374227.3 - 4 1187 c.1160G>C c.(1159-1161)aGa>aCa p.R387T ZFP37_ENST00000553380.1_Missense_Mutation_p.R402T|ZFP37_ENST00000555206.1_Missense_Mutation_p.R388T NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 387 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TGAGCTGTGTCTGAAGGTTTT 0.413000 41 82 0 0 1 0 0 LDHD 197257 broad.mit.edu 37 16 75149486 75149486 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:75149486C>T ENST00000300051.4 - 2 191 c.145G>A c.(145-147)Gtg>Atg p.V49M LDHD_ENST00000450168.2_Missense_Mutation_p.V49M NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 49 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 TCTCGGACCACCGCGGCAGTG 0.647000 7 38 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515960 26515960 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:26515960C>G ENST00000531191.1 + 20 2296 c.1289C>G c.(1288-1290)tCc>tGc p.S430C CNKSR1_ENST00000374253.5_Missense_Mutation_p.S695C|CNKSR1_ENST00000361530.6_Missense_Mutation_p.S688C Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 695 PH. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCCCACTCCCTGCCCTCT 0.642000 42 84 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2044236 2044236 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:2044236G>A ENST00000262113.4 + 18 2416 c.2275G>A c.(2275-2277)Gag>Aag p.E759K MYOM2_ENST00000523438.1_Missense_Mutation_p.E184K NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 759 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAACTGGCACGAGGTCAATTC 0.493000 23 49 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115806541 115806541 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr9:115806541C>G ENST00000374227.3 - 4 384 c.357G>C c.(355-357)caG>caC p.Q119H ZFP37_ENST00000553380.1_Missense_Mutation_p.Q134H|ZFP37_ENST00000555206.1_Missense_Mutation_p.Q120H NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 119 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CATCATCTTTCTGGACTTCTA 0.353000 26 54 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55512138 55512138 + Missense_Mutation SNP G G C rs144393067 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:55512138G>C ENST00000543010.1 + 13 3204 c.3061G>C c.(3061-3063)Gat>Cat p.D1021H NLRP2_ENST00000339757.7_Missense_Mutation_p.D999H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D998H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D999H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D1021H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D997H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D997H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D1018H NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1021 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTTGAAAATCGATGACTTTAA 0.393000 36 53 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37125241 37125241 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:37125241C>A ENST00000421307.1 - 20 1586 c.1164G>T c.(1162-1164)caG>caT p.Q388H LRRFIP2_ENST00000336686.4_Missense_Mutation_p.Q388H|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q156H|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q156H|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q204H|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q132H NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 388 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CATTGTCTAACTGTGCATTGG 0.348000 19 74 2.4624e-09 2.53309e-09 1 1 0 ZBTB11 27107 broad.mit.edu 37 3 101390721 101390721 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:101390721C>T ENST00000461821.1 - 2 850 c.647G>A c.(646-648)tGa>tAa p.*216* ZBTB11_ENST00000312938.4_Intron O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 0 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTGTCTTATTCAATAAGCAGT 0.328000 10 11 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234199 84234199 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:84234199G>A ENST00000536636.1 + 3 1384 c.1039G>A c.(1039-1041)Ggt>Agt p.G347S PRSS35_ENST00000369700.3_Missense_Mutation_p.G347S NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 347 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGCTCCACCGGTTCGGGGGT 0.512000 52 72 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72030322 72030322 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:72030322G>C ENST00000355327.3 + 11 2016 c.1882G>C c.(1882-1884)Gaa>Caa p.E628Q THSD4_ENST00000357769.4_Missense_Mutation_p.E268Q|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E628Q Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 628 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGGGACAACAGAATGTTCCAC 0.612000 20 43 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35731303 35731303 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:35731303G>T ENST00000540320.1 + 21 3274 c.2740G>T c.(2740-2742)Gaa>Taa p.E914* NBEA_ENST00000379939.2_Nonsense_Mutation_p.E914*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.E914*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.E914* Q8NFP9 NBEA_HUMAN neurobeachin 914 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAAGATTACCGAAATGGTCTA 0.408000 37 76 1.84765e-07 1.89164e-07 1 1 0 RB1CC1 9821 broad.mit.edu 37 8 53568651 53568651 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:53568651T>C ENST00000025008.5 - 15 4261 c.3738A>G c.(3736-3738)ctA>ctG p.L1246L RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.L1246L|RB1CC1_ENST00000539297.1_Silent_p.L1246L NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1246 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 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) TAAATTCTTTTAGGGCAGTCT 0.328000 30 46 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39505628 39505628 + Splice_Site SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:39505628C>T ENST00000263881.3 - 24 2039 c.e24-1 MAP4K3_ENST00000437545.1_Splice_Site|MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) AAGTACTGATCTGAAATAAAA 0.264000 31 27 0 0 1 0 0 GNL2 29889 broad.mit.edu 37 1 38032516 38032516 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:38032516C>G ENST00000373062.3 - 16 2234 c.2136G>C c.(2134-2136)aaG>aaC p.K712N GNL2_ENST00000462812.1_5'UTR NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 712 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) CATTGGTCTTCTTTTTGTTCC 0.388000 52 108 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124748071 124748071 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:124748071C>T ENST00000262219.6 - 2 129 c.62G>A c.(61-63)gGg>gAg p.G21E ANXA13_ENST00000419625.1_Intron NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 0 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) TTGGGAGTCCCCTTTAGGCAA 0.517000 34 87 0 0 1 0 0 GTF2B 2959 broad.mit.edu 37 1 89323052 89323052 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:89323052G>A ENST00000370500.5 - 6 772 c.654C>T c.(652-654)ttC>ttT p.F218F GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 218 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) GGTTGGAACAGAACCTGGACA 0.433000 26 50 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70588853 70588853 + Nonsense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr8:70588853G>A ENST00000260126.4 - 9 2786 c.2080C>T c.(2080-2082)Cga>Tga p.R694* SLCO5A1_ENST00000524945.1_Intron|SLCO5A1_ENST00000530307.1_Nonsense_Mutation_p.R639* NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity p.R694R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAAGTGTTCGCAACAAAACA 0.418000 20 48 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2110148 2110148 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:2110148G>A ENST00000355272.6 - 28 3457 c.3251C>T c.(3250-3252)tCc>tTc p.S1084F AP3D1_ENST00000356926.4_Missense_Mutation_p.S981F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S853F|AP3D1_ENST00000345016.5_Missense_Mutation_p.S1022F NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 1022 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCAATGAAGGACAGGGTCCC 0.632000 21 42 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127674667 127674667 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:127674667C>T ENST00000508053.1 - 32 4404 c.3430G>A c.(3430-3432)Gaa>Aaa p.E1144K FBN2_ENST00000508989.1_Missense_Mutation_p.E1111K|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.E1144K P35556 FBN2_HUMAN fibrillin 2 1144 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E1144K(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATAGCCTTCGAAGCACTCG 0.507000 32 84 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421499 53421499 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:53421499G>A ENST00000377942.3 - 1 1276 c.1073C>T c.(1072-1074)cCg>cTg p.P358L PCDH8_ENST00000338862.4_Missense_Mutation_p.P358L NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 358 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGCGGCCAGCGGGGTGATGGC 0.761000 8 14 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073278 34073278 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:34073278C>T ENST00000254466.6 - 6 1265 c.1238G>A c.(1237-1239)aGg>aAg p.R413K GAS2L2_ENST00000587565.1_Missense_Mutation_p.R397K NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 413 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AATCCTTCCCCTGGGGAGTTC 0.597000 154 150 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515459 113515459 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:113515459C>T ENST00000257600.3 + 2 993 c.490C>T c.(490-492)Cgc>Tgc p.R164C NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 164 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CCGCCAGAcgcgccggcgccg 0.677000 6 22 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154564587 154564587 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:154564587C>T ENST00000404039.1 + 10 1466 c.879C>T c.(877-879)caC>caT p.H293H DPP6_ENST00000332007.3_Silent_p.H295H|DPP6_ENST00000427557.1_Silent_p.H250H|DPP6_ENST00000377770.3_Silent_p.H357H NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 357 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTCCCTACACGTTATTGGCT 0.453000 17 13 0 0 1 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859546 31859546 + Nonsense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:31859546G>T ENST00000334055.3 - 1 209 c.122C>A c.(121-123)tCa>tAa p.S41* NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 41 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TCTGTAGCATGATGGGCAGCA 0.473000 78 138 2.08937e-45 2.32754e-45 1 1 0 PARD6A 50855 broad.mit.edu 37 16 67695399 67695399 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:67695399G>A ENST00000458121.2 + 2 196 c.105G>A c.(103-105)tcG>tcA p.S35S PARD6A_ENST00000602551.1_Silent_p.S35S|PARD6A_ENST00000219255.3_Silent_p.S35S NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 35 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCGCGCTTCGGTGAGCGGCT 0.657000 38 87 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45106729 45106729 + Missense_Mutation SNP G G T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr21:45106729G>T ENST00000340648.4 + 12 1171 c.1054G>T c.(1054-1056)Gat>Tat p.D352Y NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 352 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CATTTCTGCTGATGAAGATGA 0.428000 35 84 2.47316e-13 2.5938e-13 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671231 49671231 + Missense_Mutation SNP T T A rs114911915 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr16:49671231T>A ENST00000561648.1 - 4 1885 c.1832A>T c.(1831-1833)gAg>gTg p.E611V ZNF423_ENST00000535559.1_Missense_Mutation_p.E494V|ZNF423_ENST00000567169.1_Missense_Mutation_p.E494V|ZNF423_ENST00000563137.2_Missense_Mutation_p.E551V|ZNF423_ENST00000262383.2_Missense_Mutation_p.E611V|ZNF423_ENST00000562871.1_Missense_Mutation_p.E551V|ZNF423_ENST00000562520.1_Missense_Mutation_p.E551V NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 611 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGAAGACACCTCCACATCGGA 0.547000 46 60 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76944087 76944087 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:76944087G>A ENST00000315938.4 - 13 1622 c.1372C>T c.(1372-1374)Cac>Tac p.H458Y GDPD4_ENST00000376217.2_Missense_Mutation_p.H458Y NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 458 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 AAGTGAGGGTGATCAAGCTGA 0.537000 18 43 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18234408 18234408 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:18234408G>A ENST00000262811.6 + 7 489 c.489G>A c.(487-489)ggG>ggA p.G163G MAST3_ENST00000608648.1_3'UTR NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GTGCAACGGGGACCTTCGACA 0.602000 5 10 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63927026 63927026 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:63927026C>T ENST00000443617.2 - 66 12563 c.12476G>A c.(12475-12477)gGg>gAg p.G4159E NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4159 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GTCACCATTCCCAAAGGTGAA 0.448000 14 18 0 0 1 0 0 ICAM3 3385 broad.mit.edu 37 19 10445321 10445321 + Missense_Mutation SNP G G C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:10445321G>C ENST00000589261.1 - 5 1376 c.844C>G c.(844-846)Caa>Gaa p.Q282E ICAM3_ENST00000160262.5_Missense_Mutation_p.Q359E P32942 ICAM3_HUMAN intercellular adhesion molecule 3 359 Ig-like C2-type 3. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) AGCTGAAGTTGAGCTGGCTGC 0.632000 32 67 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910950 61910950 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:61910950G>A ENST00000448276.2 - 10 1579 c.1314C>T c.(1312-1314)gtC>gtT p.V438V SMARCD2_ENST00000323347.10_Silent_p.V390V|SMARCD2_ENST00000225742.9_Silent_p.V363V NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 438 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 GGCCCACCTTGACATCAAGGG 0.577000 40 121 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32204223 32204223 + Silent SNP C C T rs140870509 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:32204223C>T ENST00000373658.3 - 17 2951 c.2610G>A c.(2608-2610)acG>acA p.T870T BAI2_ENST00000527361.1_Silent_p.T870T|BAI2_ENST00000398542.1_Silent_p.T803T|BAI2_ENST00000440175.2_Silent_p.T512T|BAI2_ENST00000257070.4_Silent_p.T870T|BAI2_ENST00000398556.3_Silent_p.T818T|BAI2_ENST00000373655.2_Silent_p.T870T|BAI2_ENST00000398538.1_Silent_p.T858T|BAI2_ENST00000398547.1_Silent_p.T803T NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 870 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T870T(1) breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AATGGGGATCCGTGGTCCCCT 0.632000 8 13 0 0 1 0 0 RNF212 285498 broad.mit.edu 37 4 1107304 1107304 + Translation_Start_Site SNP A A T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:1107304A>T ENST00000382968.5 - 0 46 RNF212_ENST00000505730.1_5'UTR|RNF212_ENST00000433731.2_De_novo_Start_OutOfFrame|RNF212_ENST00000333673.5_De_novo_Start_OutOfFrame NM_001131034.3|NM_194439.4 NP_001124506.1|NP_919420.1 Q495C1 RN212_HUMAN ring finger protein 212 zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) AGCCCACGCAAGGTTGGGACC 0.736000 10 17 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267503 1267503 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:1267503G>A ENST00000447027.1 + 31 9460 c.9402G>A c.(9400-9402)acG>acA p.T3134T MUC5B_ENST00000529681.1_Silent_p.T3131T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3131 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T3110T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCGGGGACGACCTGGATCC 0.657000 58 134 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48698230 48698230 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:48698230C>T ENST00000294952.8 + 10 1059 c.902C>T c.(901-903)tCa>tTa p.S301L PPP1R21_ENST00000281394.4_Missense_Mutation_p.S301L|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S301L NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 301 endometrium(2)|kidney(4)|lung(9) 15 GTTTAGTTCTCACAATACCTT 0.363000 31 29 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995384 140995384 + Nonsense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:140995384C>T ENST00000285879.4 + 4 2480 c.2194C>T c.(2194-2196)Cag>Tag p.Q732* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 732 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTTTCCTCCTCAGGGGGAGGA 0.542000 HNSCC(15;0.026) 100 84 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7695949 7695949 + Silent SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr5:7695949C>G ENST00000338316.4 + 6 1043 c.954C>G c.(952-954)ctC>ctG p.L318L ADCY2_ENST00000537121.1_Silent_p.L138L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 318 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGAATGAGCTCTTTGGAAAGT 0.433000 14 33 0 0 1 0 0 ATG7 10533 broad.mit.edu 37 3 11340868 11340868 + Silent SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:11340868T>C ENST00000354449.3 + 3 218 c.193T>C c.(193-195)Ttg>Ctg p.L65L ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000446450.2_Silent_p.L65L|ATG7_ENST00000354956.5_Silent_p.L65L NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 65 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 TCGCTTAACATTGGAGTTCAG 0.393000 50 147 0 0 1 0 0 UCHL1 7345 broad.mit.edu 37 4 41263746 41263746 + Silent SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:41263746C>T ENST00000284440.4 + 5 484 c.340C>T c.(340-342)Ctg>Ttg p.L114L UCHL1_ENST00000512788.1_Silent_p.L114L|UCHL1_ENST00000508768.1_Silent_p.L114L|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Silent_p.L114L NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 114 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 TGGATCAGTTCTGAAACAGTT 0.343000 18 41 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738064 19738064 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:19738064C>T ENST00000222567.5 - 4 962 c.892G>A c.(892-894)Gac>Aac p.D298N NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 298 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 CCACTGGAGTCACTGCCTTGG 0.423000 208 207 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5668195 5668195 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:5668195G>A ENST00000292123.5 + 21 2748 c.2641G>A c.(2641-2643)Ggg>Agg p.G881R SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 881 Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGCCCCAGGCGGGGCCTCCCG 0.682000 46 78 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90427424 90427424 + Silent SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr10:90427424G>A ENST00000394375.3 + 4 347 c.234G>A c.(232-234)aaG>aaA p.K78K LIPF_ENST00000355843.2_Silent_p.K78K|LIPF_ENST00000608620.1_Silent_p.K68K|LIPF_ENST00000238983.4_Silent_p.K68K NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 68 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) CTTATGGGAAGAAAAATTCAG 0.348000 25 55 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183995773 183995773 + Missense_Mutation SNP C C G TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:183995773C>G ENST00000402825.3 + 5 893 c.893C>G c.(892-894)tCt>tGt p.S298C EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.S226C|ECE2_ENST00000404464.3_Missense_Mutation_p.S180C|ECE2_ENST00000359140.4_Missense_Mutation_p.S151C NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 298 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCTACCTATCTTGCCTACAG 0.562000 40 115 0 0 1 0 0 FAM9B 171483 broad.mit.edu 37 X 8997436 8997436 + Missense_Mutation SNP G G A rs12839241 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:8997436G>A ENST00000362066.3 - 5 613 c.425C>T c.(424-426)tCt>tTt p.S142F FAM9B_ENST00000327220.5_Missense_Mutation_p.S102F|FAM9B_ENST00000428477.1_Missense_Mutation_p.S102F Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 102 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) CAACTTCAGAGAATGTATATA 0.368000 12 36 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976774 46976774 + Silent SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:46976774C>A ENST00000371956.4 + 3 531 c.516C>A c.(514-516)ggC>ggA p.G172G DMBX1_ENST00000360032.3_Silent_p.G167G NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 172 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GTCTGCCTGGCAGCGACCCCC 0.662000 33 114 1.36161e-19 1.46374e-19 1 1 0 FARSB 10056 broad.mit.edu 37 2 223436667 223436667 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:223436667G>A ENST00000281828.6 - 17 1956 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y FARSB_ENST00000536361.1_Missense_Mutation_p.H466Y NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 565 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) ACGTCAGGATGAAGGACCCCA 0.488000 21 17 0 0 1 0 0 HSPB11 51668 broad.mit.edu 37 1 54405716 54405716 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:54405716C>T ENST00000194214.5 - 2 429 c.40G>A c.(40-42)Gaa>Aaa p.E14K HSPB11_ENST00000371377.3_Missense_Mutation_p.E14K|HSPB11_ENST00000371378.2_Missense_Mutation_p.E14K|HSPB11_ENST00000371376.1_Missense_Mutation_p.E14K NM_016126.2 NP_057210.2 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 14 cell adhesion|response to stress p.E14K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 9 AAAATCACTTCGGACCCTTCA 0.328000 14 31 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50663213 50663213 + Missense_Mutation SNP C C A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:50663213C>A ENST00000403097.1 - 17 2321 c.1541G>T c.(1540-1542)cGt>cTt p.R514L GRB10_ENST00000398812.2_Missense_Mutation_p.R520L|GRB10_ENST00000406641.1_Missense_Mutation_p.R462L|GRB10_ENST00000407526.1_Missense_Mutation_p.R462L|GRB10_ENST00000402497.1_Missense_Mutation_p.R462L|GRB10_ENST00000398810.2_Missense_Mutation_p.R462L|GRB10_ENST00000357271.5_Missense_Mutation_p.R474L|GRB10_ENST00000401949.1_Missense_Mutation_p.R520L|GRB10_ENST00000402578.1_Missense_Mutation_p.R462L|GRB10_ENST00000439599.1_Missense_Mutation_p.R514L|GRB10_ENST00000335866.3_Missense_Mutation_p.R462L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 520 SH2. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity p.R520H(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CTGGCTGTCACGGAGGAGAAA 0.383000 Russell-Silver syndrome 137 152 6.95862e-65 7.7922e-65 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681563 100681563 + Missense_Mutation SNP C C T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:100681563C>T ENST00000306151.4 + 3 6930 c.6866C>T c.(6865-6867)aCg>aTg p.T2289M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2289 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T2289M(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCCACACGCTGGTGGCC 0.478000 292 342 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558887 149558887 + Missense_Mutation SNP G G A TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:149558887G>A ENST00000223210.4 + 7 2883 c.2638G>A c.(2638-2640)Gag>Aag p.E880K RP4-751H13.7_ENST00000608963.1_RNA NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 880 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 CGTGGCACTGGAGAGCCTCCG 0.602000 39 37 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27107085 27107102 + In_Frame_Del DEL GCGGGCTGCCCGCGCGCT GCGGGCTGCCCGCGCGCT - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT ENST00000324856.7 + 20 7067_7084 c.6696_6713delGCGGGCTGCCCGCGCGCT c.(6694-6714)cggcgggctgcccgcgcgctg>cgg p.RAARAL2233del ARID1A_ENST00000374152.2_In_Frame_Del_p.RAARAL1850del|ARID1A_ENST00000540690.1_In_Frame_Del_p.RAARAL561del|ARID1A_ENST00000457599.2_In_Frame_Del_p.RAARAL2016del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2233 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.A2235fs*32(1)|p.L2238fs*40(1)|p.M2231fs*32(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTG 0.573 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 27 123 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cccfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 32 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452831 43452832 + Frame_Shift_Ins INS - - C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr2:43452831_43452832insC ENST00000282388.3 - 2 404_405 c.111_112insG c.(109-114)gggacgfs p.T38fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 38 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCACAGGCGTCCCCACCGCCT 0.663 21 19 --- --- --- --- ARIH2 10425 broad.mit.edu 37 3 49005998 49005998 + Frame_Shift_Del DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr3:49005998delC ENST00000356401.4 + 7 909 c.570delC c.(568-570)ctcfs p.L190fs ARIH2_ENST00000449376.1_Frame_Shift_Del_p.L190fs|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 190 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ACTGTCCACTCCGTACACCAG 0.502 151 155 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100265826 100265827 + RNA INS - - AACTC rs138852664 by1000genomes TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr4:100265826_100265827insAACTC ENST00000515683.1 - 0 919 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TACATTTTCTTAACAAGTTTTT 0.297 5 2 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)aagfs p.K1138fs TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 8 554 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283947 100283948 + Frame_Shift_Ins INS - - C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr7:100283947_100283948insC ENST00000275732.5 - 8 2012_2013 c.803_804insG c.(802-804)ggafs p.G268fs GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 268 Poly-Gly. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCTCCCCCTCCCCGCCCCTC 0.644 7 186 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16838371 16838390 + Frame_Shift_Del DEL CCTTGGAGAATCCCCCAGCG CCTTGGAGAATCCCCCAGCG - rs142792914 TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG ENST00000355661.3 - 11 1833_1852 c.1823_1842delCGCTGGGGGATTCTCCAAGG c.(1822-1842)tcgctgggggattctccaaggfs p.SLGDSPR608fs PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.SLGDSPR608fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.SLGDSPR608fs|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 608 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCCGTGCCCTCCTTGGAGAATCCCCCAGCGAGATGTCCAC 0.641 9 72 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:57920934delC ENST00000355673.3 + 7 2362 c.2006delC c.(2005-2007)gccfs p.A669fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.A669fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 669 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCACTTTCAGCCCCCCCTACC 0.642 28 24 --- --- --- --- SLC9A7P1 121456 broad.mit.edu 37 12 98848832 98848832 + RNA DEL C C - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr12:98848832delC ENST00000554295.1 - 0 2091 NR_033801.1 ACTGTGCTGTCCCCATAGGTC 0.527 7 17 --- --- --- --- FLT3 2322 broad.mit.edu 37 13 28609758 28609759 + Frame_Shift_Ins INS - - T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr13:28609758_28609759insT ENST00000380982.4 - 12 1551_1552 c.1470_1471insA c.(1468-1473)aaagtgfs p.V491fs FLT3_ENST00000537084.1_Frame_Shift_Ins_p.V491fs|FLT3_ENST00000241453.7_Frame_Shift_Ins_p.V491fs P36888 FLT3_HUMAN fms-related tyrosine kinase 3 491 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.V491L(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCCAAACACTTTTCTGTTAG 0.426 """Mis, O""" """AML, ALL""" 60 126 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38060758 38060762 + Frame_Shift_Del DEL GCTCC GCTCC - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr14:38060758_38060762delGCTCC ENST00000250448.2 - 2 1288_1292 c.1227_1231delGGAGC c.(1225-1233)tcggagcagfs p.EQ410fs FOXA1_ENST00000540786.1_Frame_Shift_Del_p.EQ377fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 410 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TTATGCTGCTGCTCCGAGGAGGACA 0.600 11 49 --- --- --- --- SERF2 10169 broad.mit.edu 37 15 44092712 44092714 + In_Frame_Del DEL AAG AAG - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr15:44092712_44092714delAAG ENST00000594896.1 + 3 169_171 c.54_56delAAG c.(52-57)gaaaga>gaa p.R20del HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000442995.2_5'UTR|SERF2_ENST00000600633.1_5'UTR|HYPK_ENST00000406925.1_5'UTR P84101 SERF2_HUMAN small EDRK-rich factor 2 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CTGGAGCAGAAAGAAGGTGTGGC 0.606 OREG0003941 type=REGULATORY REGION|Gene=BX647438|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 5 --- --- --- --- ITGAE 3682 broad.mit.edu 37 17 3661102 3661104 + In_Frame_Del DEL GAC GAC - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr17:3661102_3661104delGAC ENST00000263087.4 - 9 1014_1016 c.916_918delGTC c.(916-918)gtcdel p.V306del NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 306 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCACCACCATGACCTTGGATGCC 0.532 13 300 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tctcgtfs p.R343fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.R404fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 404 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 7 260 --- --- --- --- ZNF223 7766 broad.mit.edu 37 19 44564985 44564985 + Frame_Shift_Del DEL G G - TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chr19:44564985delG ENST00000591793.1 + 6 639 c.556delG c.(556-558)gggfs p.G186fs ZNF223_ENST00000585552.1_Frame_Shift_Del_p.G76fs|ZNF223_ENST00000434772.3_Frame_Shift_Del_p.G76fs Q9UK11 ZN223_HUMAN zinc finger protein 223 76 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) CCAAAGGGAAGGGAATTCAGG 0.433 46 146 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48162915 48162916 + RNA INS - - T TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba535e3-c48a-4b50-af45-409c099d5be0 b833e093-cd12-441b-9791-fdd25c031925 g.chrX:48162915_48162916insT ENST00000608568.1 - 0 367 NR_073393.1 breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 tctgcatgcaattttttttcac 0.351 14 10 --- --- --- ---