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 SLC52A2 79581 broad.mit.edu 37 8 145583657 145583657 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:145583657C>T ENST00000532887.1 + 3 1088 c.505C>T c.(505-507)Cgc>Tgc p.R169C SLC52A2_ENST00000527078.1_Missense_Mutation_p.R169C|SLC52A2_ENST00000540505.1_Missense_Mutation_p.R81C|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R169C|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000329994.2_Missense_Mutation_p.R169C|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R169C Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 169 integral to plasma membrane receptor activity|riboflavin transporter activity p.R169C(1) GGGTGTGGGCCGCCTCGAGTG 0.662000 3 5 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043736 20043736 + Missense_Mutation SNP A A T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:20043736A>T ENST00000570682.1 - 2 683 c.383T>A c.(382-384)aTc>aAc p.I128N NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 128 integral to membrane|plasma membrane p.I128N(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GCAGACAGCGATATACCTGTC 0.507000 90 407 0 0 1 0 0 CABLES2 81928 broad.mit.edu 37 20 60966358 60966358 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:60966358C>G ENST00000279101.5 - 9 1251 c.1243G>C c.(1243-1245)Gct>Cct p.A415P NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 415 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity p.A415P(1) endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) ATCTTGGCAGCCAGCAGCACG 0.627000 5 17 0 0 1 0 0 LYL1 4066 broad.mit.edu 37 19 13211508 13211508 + Silent SNP C C T rs142687463 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:13211508C>T ENST00000264824.4 - 3 750 c.390G>A c.(388-390)aaG>aaA p.K130K NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 130 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.K130K(1) cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) TTGGTCTCCGCTTCAACCGGC 0.562000 T TRB@ T-ALL 7 59 0 0 1 0 0 TWF2 11344 broad.mit.edu 37 3 52269072 52269072 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:52269072G>A ENST00000305533.5 - 2 319 c.76C>T c.(76-78)Cgg>Tgg p.R26W TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R26W NM_007284.3 NP_009215.1 twinfilin actin-binding protein 2 p.R26W(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTGATGAGCCGCACAGAGCCA 0.582000 3 21 0 0 1 0 0 FAM110A 83541 broad.mit.edu 37 20 826325 826325 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:826325C>T ENST00000304189.2 + 3 1259 c.878C>T c.(877-879)gCt>gTt p.A293V RP11-276A18.2_ENST00000505691.2_RNA|FAM110A_ENST00000381941.3_Missense_Mutation_p.A293V|FAM110A_ENST00000541082.1_Missense_Mutation_p.A293V|FAM110A_ENST00000246100.3_Missense_Mutation_p.A293V|FAM110A_ENST00000381939.1_Missense_Mutation_p.A293V Q9BQ89 F110A_HUMAN family with sequence similarity 110, member A 293 microtubule organizing center|spindle pole protein binding p.A293V(1) breast(1)|lung(2) 3 AGCCCAGCAGCTGAAGGCTAG 0.627000 6 18 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30662458 30662458 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:30662458C>A ENST00000534862.1 + 6 665 c.302C>A c.(301-303)gCc>gAc p.A101D HCK_ENST00000538448.1_Missense_Mutation_p.A100D|HCK_ENST00000520553.1_Missense_Mutation_p.A100D|HCK_ENST00000375852.2_Missense_Mutation_p.A121D|HCK_ENST00000518730.1_Missense_Mutation_p.A99D|HCK_ENST00000375862.2_Missense_Mutation_p.A120D NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 121 SH3. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A100D(1)|p.A121D(1) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGATCCCTGGCCACCCGGAAG 0.552000 9 118 0.000442599 0.000454455 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067911 76067911 + RNA SNP A A G rs12101948 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:76067911A>G ENST00000395215.3 + 0 18 CAGGTGCCTGATACGTGACTG 0.547000 4 71 0 0 1 0 0 OTUD6B 51633 broad.mit.edu 37 8 92090700 92090700 + Silent SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:92090700T>C ENST00000285420.4 + 4 621 c.522T>C c.(520-522)gcT>gcC p.A174A OTUD6B_ENST00000404789.3_Silent_p.A43A NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 144 OTU. p.A174A(1)|p.A144A(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) TATTGGCAGCTAGACAGTTAG 0.398000 3 30 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119328403 119328403 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:119328403G>A ENST00000273371.4 + 4 614 c.542G>A c.(541-543)gGc>gAc p.G181D PLA1A_ENST00000495992.1_Missense_Mutation_p.G165D|PLA1A_ENST00000494440.1_Missense_Mutation_p.G165D|PLA1A_ENST00000488919.1_Missense_Mutation_p.G8D NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 181 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity p.G181D(1) NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCTTCGGAGGCCAGCTGGGA 0.537000 46 179 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594807 55594807 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:55594807C>T ENST00000378397.1 + 1 113 c.113C>T c.(112-114)aCg>aTg p.T38M NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T38M(2) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TATGGAGTCACGTTGTTAGCC 0.502000 HNSCC(27;0.073) 31 942 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298621 62298621 + Missense_Mutation SNP G G A rs148272375 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:62298621G>A ENST00000378024.4 - 5 3542 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1090 nervous system development nucleus protein binding p.P1090S(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTATCTTTGGTGCAGAGATA 0.468000 6 145 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46228930 46228930 + Missense_Mutation SNP C C T rs235293 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr21:46228930C>T ENST00000397898.3 - 3 336 c.254G>A c.(253-255)cGa>cAa p.R85Q SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) AATCGGAAGTCGCCCTGGAAC 0.478000 3 34 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6646512 6646512 + Missense_Mutation SNP G G T rs77154254 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:6646512G>T ENST00000229239.5 + 7 1147 c.481G>T c.(481-483)Gcc>Tcc p.A161S GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 161 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding p.A161S(1) central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) AGCACCCCTGGCCAAGGTCAT 0.577000 3 14 0.115264 0.115264 1 1 0 KCNH1 3756 broad.mit.edu 37 1 211280627 211280627 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:211280627C>T ENST00000367007.4 - 2 341 c.172G>A c.(172-174)Gca>Aca p.A58T KCNH1_ENST00000271751.4_Missense_Mutation_p.A58T NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 58 PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.A58T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ATCACTTCTGCCCTGTGATAG 0.388000 51 99 0 0 1 0 0 TOE1 114034 broad.mit.edu 37 1 45808791 45808791 + Missense_Mutation SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:45808791A>C ENST00000372090.5 + 8 1533 c.950A>C c.(949-951)cAg>cCg p.Q317P TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.Q237P NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 317 nuclear speck|nucleolus nucleic acid binding|zinc ion binding p.Q317P(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CAGTGTCCTCAGTCTCACGAT 0.552000 6 99 0 0 1 0 0 TOR1A 1861 broad.mit.edu 37 9 132585013 132585013 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:132585013C>T ENST00000351698.4 - 2 339 c.291G>A c.(289-291)acG>acA p.T97T TOR1A_ENST00000473084.1_5'UTR NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 97 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding p.T97T(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) GCAGGGAGAGCGTGAGAGGTT 0.473000 6 77 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135592250 135592250 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:135592250G>A ENST00000535601.1 + 9 1356 c.934G>A c.(934-936)Gat>Aat p.D312N HTATSF1_ENST00000218364.4_Missense_Mutation_p.D312N NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 312 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding p.D312N(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GAGGCACCCAGATGGTGTGGC 0.398000 36 400 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232868 58232868 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:58232868C>T ENST00000317398.6 - 4 681 c.586G>A c.(586-588)Gca>Aca p.A196T ZNF671_ENST00000335820.3_Missense_Mutation_p.A98T|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A196T(1) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTCCACATGCCCCACACAAG 0.488000 6 69 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118228714 118228714 + Silent SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:118228714T>C ENST00000369230.3 + 9 1091 c.945T>C c.(943-945)tgT>tgC p.C315C NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 315 lipid catabolic process extracellular region triglyceride lipase activity p.C315C(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) GCTTCTTTTGTTCCAAAGAAG 0.313000 24 140 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131471727 131471727 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:131471727C>T ENST00000261654.5 + 6 1137 c.578C>T c.(577-579)cCg>cTg p.P193L GPR133_ENST00000535015.1_Missense_Mutation_p.P225L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 193 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P193L(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACCTCTGATCCGAGTGGAAAA 0.512000 6 106 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159499085 159499085 + Nonsense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:159499085C>T ENST00000389757.3 + 11 1908 c.1783C>T c.(1783-1785)Cga>Tga p.R595* PKP4_ENST00000389759.3_Nonsense_Mutation_p.R595* NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 595 cell adhesion desmosome protein binding p.R595*(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TGGTGCCCTTCGAAACCTCGT 0.418000 HNSCC(62;0.18) 10 302 0 0 1 0 0 HSD17B12 51144 broad.mit.edu 37 11 43819909 43819909 + Missense_Mutation SNP A A T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:43819909A>T ENST00000278353.4 + 4 442 c.323A>T c.(322-324)gAc>gTc p.D108V HSD17B12_ENST00000529261.1_3'UTR NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 108 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity p.D108V(1) endometrium(2)|large_intestine(4)|lung(4) 10 ATTGCTGTTGACTTTGCATCA 0.368000 97 227 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5041502 5041502 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:5041502G>A ENST00000574788.1 + 21 3242 c.1012G>A c.(1012-1014)Gtg>Atg p.V338M USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 338 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.V338M(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CGATGACACCGTGCTCAAGCA 0.582000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 7 43 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475178 29475178 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:29475178G>C ENST00000373795.4 - 6 1463 c.1229C>G c.(1228-1230)tCc>tGc p.S410C SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 410 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding p.S410C(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CTTTGACACGGAGCGGGATGG 0.582000 9 58 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27215709 27215709 + Missense_Mutation SNP G G C rs114674760 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:27215709G>C ENST00000230582.3 + 2 134 c.119G>C c.(118-120)aGc>aCc p.S40T PRSS16_ENST00000421826.2_Missense_Mutation_p.S40T NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 40 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity p.S40T(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TTTCAGGAGAGCTCTGCCCAG 0.642000 7 105 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17073016 17073016 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:17073016G>A ENST00000357277.3 + 8 1228 c.1057G>A c.(1057-1059)Ggc>Agc p.G353S REPS2_ENST00000303843.7_Missense_Mutation_p.G352S|REPS2_ENST00000380064.4_Missense_Mutation_p.G213S NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 353 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding p.G353S(1)|p.G214S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) TCGGAAGAACGGCTACCCATT 0.512000 8 156 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102690783 102690783 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:102690783C>T ENST00000238961.3 + 9 2532 c.2384C>T c.(2383-2385)tCt>tTt p.S795F FAM178A_ENST00000370269.3_Missense_Mutation_p.S795F NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 795 p.S795F(1) TTCCTTACGTCTGCTTATCAC 0.368000 24 268 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112998717 112998717 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:112998717G>A ENST00000495514.1 + 13 2771 c.2067G>A c.(2065-2067)gaG>gaA p.E689E BOC_ENST00000355385.3_Silent_p.E689E|BOC_ENST00000273395.4_Silent_p.E690E Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 689 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding p.E689E(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TGCTGGGGGAGAGCGAGCCCA 0.602000 4 34 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427306 71427306 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chrX:71427306C>T ENST00000373657.1 - 3 1544 c.942G>A c.(940-942)gaG>gaA p.E314E PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.E437E Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 437 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding p.E437E(1) breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) AATCTTCCCCCTCATTTCCAT 0.423000 31 611 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031055 32031055 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:32031055C>T ENST00000360311.4 + 2 1033 c.484C>T c.(484-486)Cat>Tat p.H162Y NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H162Y(2) endometrium(3)|lung(4)|ovary(1) 8 CTTTCATTCGCATCTTCCTGA 0.413000 10 172 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930416 121930416 + Missense_Mutation SNP C C T rs141766717 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:121930416C>T ENST00000265922.3 - 8 1693 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 411 cell cycle arrest|cell death cytoplasm protein binding p.R411Q(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CACGCAGCTCCGCTGGCTCTC 0.597000 9 11 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826855 34826855 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:34826855C>T ENST00000192788.5 + 14 2893 c.2722C>T c.(2722-2724)Cta>Tta p.L908L UHRF1BP1_ENST00000452449.2_Silent_p.L908L NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 908 p.L908L(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGATTCAGAGCTATCTCCTTC 0.527000 4 72 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134143 128134143 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:128134143C>G ENST00000368250.1 - 5 1904 c.1406G>C c.(1405-1407)aGc>aCc p.S469T THEMIS_ENST00000543064.1_Missense_Mutation_p.S548T|THEMIS_ENST00000537166.1_Missense_Mutation_p.S513T|THEMIS_ENST00000368248.2_Missense_Mutation_p.S548T Q8N1K5 THMS1_HUMAN thymocyte selection associated 548 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.S548T(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TGAGGCTGAGCTTTCATATCT 0.463000 42 143 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480629 128480629 + Missense_Mutation SNP G G A rs34932223 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:128480629G>A ENST00000325888.8 + 10 1838 c.1577G>A c.(1576-1578)cGg>cAg p.R526Q FLNC_ENST00000346177.6_Missense_Mutation_p.R526Q NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 526 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.R526Q(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGAAGGTGCGGGAGGCTGGG 0.612000 5 35 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33140660 33140660 + Silent SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:33140660G>T ENST00000306065.4 - 3 299 c.141C>A c.(139-141)atC>atA p.I47I ANKRD27_ENST00000586693.2_5'UTR|ANKRD27_ENST00000587352.1_Silent_p.I47I NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 47 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.I47I(1) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) AAGTAGACTGGATGCTGCTCG 0.448000 9 113 7.48243e-07 8.19504e-07 1 1 0 RYR2 6262 broad.mit.edu 37 1 237777703 237777703 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:237777703C>T ENST00000366574.2 + 37 5592 c.5275C>T c.(5275-5277)Cca>Tca p.P1759S RYR2_ENST00000360064.6_Missense_Mutation_p.P1757S|RYR2_ENST00000542537.1_Missense_Mutation_p.P1743S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1759 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1757S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCCCTCAGGCCACGGATGCA 0.512000 33 299 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209797336 209797336 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:209797336G>C ENST00000391911.1 - 14 2375 c.1986C>G c.(1984-1986)ctC>ctG p.L662L LAMB3_ENST00000367030.3_Silent_p.L662L|LAMB3_ENST00000356082.4_Silent_p.L662L NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 662 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity p.L662L(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCAGGCCCTGGAGAGTTCGCC 0.532000 12 34 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30748249 30748249 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:30748249G>C ENST00000263056.1 + 8 1788 c.1092G>C c.(1090-1092)ctG>ctC p.L364L MAP3K8_ENST00000542547.1_Silent_p.L364L|MAP3K8_ENST00000375321.1_Silent_p.L364L NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 364 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding p.L364L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) TGAGAGAGCTGATAGAAGCTT 0.527000 7 92 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52643464 52643464 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:52643464G>A ENST00000399231.3 - 28 4079 c.3836C>T c.(3835-3837)gCc>gTc p.A1279V MYO5A_ENST00000553916.1_Missense_Mutation_p.A1279V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1279V|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1279V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1279V NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1279 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity p.A1279V(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GGGTTGGATGGCCTCTTTCTG 0.512000 5 25 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612580 16612580 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:16612580C>T ENST00000443444.2 + 5 1349 c.1209C>T c.(1207-1209)tgC>tgT p.C403C CCDC144A_ENST00000360524.8_Silent_p.C403C|CCDC144A_ENST00000340621.5_Silent_p.C402C|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Silent_p.C403C|CCDC144A_ENST00000399273.1_Silent_p.C403C A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 403 p.C403C(1) AATTAGACTGCGACAATGATA 0.358000 68 50 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922153 43922153 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:43922153C>A ENST00000602198.1 + 7 1011 c.569C>A c.(568-570)aCt>aAt p.T190N TEX101_ENST00000253435.7_Missense_Mutation_p.T190N|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.T172N NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 172 anchored to membrane|plasma membrane p.T190N(1) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) CTTGAGATCACTGGAGGTAAA 0.483000 15 182 8.34094e-07 8.96456e-07 1 1 0 SLC8A1 6546 broad.mit.edu 37 2 40366566 40366566 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:40366566G>C ENST00000406785.1 - 7 2601 c.2412C>G c.(2410-2412)ttC>ttG p.F804L SLC8A1_ENST00000332839.4_Missense_Mutation_p.F840L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F804L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F804L|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F835L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F832L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F840L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F804L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F804L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F835L|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 840 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.F840L(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAGTGCGACGAACACGACTG 0.463000 41 72 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801053 9801053 + Missense_Mutation SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:9801053G>C ENST00000457674.2 - 5 1644 c.1126C>G c.(1126-1128)Cgt>Ggt p.R376G ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R376G(1) ovary(1) 1 TGTTTACTACGATAGGAAGAA 0.393000 8 130 0 0 1 0 0 PRKAB1 5564 broad.mit.edu 37 12 120110257 120110257 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:120110257C>A ENST00000229328.5 + 2 803 c.311C>A c.(310-312)cCc>cAc p.P104H PRKAB1_ENST00000541640.1_Missense_Mutation_p.P104H|PRKAB1_ENST00000540121.1_5'UTR NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 104 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol p.P104H(1) endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) AGTAAACTTCCCCTCACCAGA 0.463000 4 29 4.096e-09 4.5732e-09 1 1 0 ERCC2 2068 broad.mit.edu 37 19 45860756 45860756 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:45860756G>T ENST00000391945.4 - 14 1430 c.1353C>A c.(1351-1353)ttC>ttA p.F451L ERCC2_ENST00000391944.3_Missense_Mutation_p.F373L NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 451 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.F451L(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGACAGACTGGAAACGCTCAA 0.642000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 22 3.52763e-06 3.75627e-06 1 1 0 MYOM1 8736 broad.mit.edu 37 18 3102545 3102545 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr18:3102545C>G ENST00000400569.3 - 23 3835 c.3502G>C c.(3502-3504)Gag>Cag p.E1168Q MYOM1_ENST00000261606.7_Missense_Mutation_p.E1072Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.E1168Q P52179 MYOM1_HUMAN myomesin 1 1168 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle p.E1168Q(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGGAGAACTCGGACTTTGGA 0.413000 79 259 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79101124 79101124 + Missense_Mutation SNP A A T rs149877350 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:79101124A>T ENST00000370751.4 + 5 1005 c.826A>T c.(826-828)Atg>Ttg p.M276L IFI44L_ENST00000342282.3_Missense_Mutation_p.M18L|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 276 cytoplasm p.M237L(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AGGACTGTGCATGGATGACAT 0.373000 42 621 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 109 312 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91485697 91485697 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:91485697C>T ENST00000394275.2 + 10 1508 c.673C>T c.(673-675)Cgg>Tgg p.R225W UNC45A_ENST00000553671.2_Intron|UNC45A_ENST00000418476.2_Missense_Mutation_p.R240W NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 240 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding p.R240W(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACTGGGAACTCGGCGAGTAGT 0.562000 4 30 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57975228 57975228 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:57975228C>A ENST00000455537.2 + 25 3060 c.2786C>A c.(2785-2787)gCa>gAa p.A929E KIF5A_ENST00000286452.5_Missense_Mutation_p.A840E NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 929 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.A929E(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CACTACCCAGCATCCTCACCC 0.552000 16 60 4.96729e-08 5.49268e-08 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5294752 5294752 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:5294752G>A ENST00000546004.1 - 2 510 c.264C>T c.(262-264)acC>acT p.T88T PROKR2_ENST00000217270.3_Silent_p.T88T Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 88 integral to membrane|plasma membrane neuropeptide Y receptor activity p.T88T(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGAGCAGATTGGTGAGGTTGC 0.557000 HNSCC(71;0.22) 5 73 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G G A rs10521 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:139397707G>A ENST00000277541.6 - 27 5169 c.5094C>T c.(5092-5094)gaC>gaT p.D1698D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.D1699D(11) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 2 3 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39881468 39881468 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:39881468C>T ENST00000260356.5 + 12 2004 c.1839C>T c.(1837-1839)ccC>ccT p.P613P NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 613 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding p.P613P(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ACACGGACCCCGGCTACAACT 0.562000 14 68 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143823616 143823616 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:143823616C>T ENST00000002165.5 - 4 894 c.839G>A c.(838-840)cGt>cAt p.R280H FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 280 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding p.R280H(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) TGGGTTATAACGATCACTGCA 0.468000 14 322 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52359654 52359654 + Missense_Mutation SNP C C G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:52359654C>G ENST00000356297.4 - 12 1535 c.1435G>C c.(1435-1437)Gca>Cca p.A479P PXDNL_ENST00000543296.1_Missense_Mutation_p.A479P NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 479 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.A479P(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCGTGCTGTGCTGCACGGTCA 0.463000 46 429 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337261 6337261 + RNA SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:6337261A>C ENST00000507444.1 - 0 143 NR_028351.1 CAACAGACTCACCATCACGAT 0.502000 47 110 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2987387 2987387 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr7:2987387C>T ENST00000396946.4 - 3 445 c.42G>A c.(40-42)acG>acA p.T14T NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 14 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.T7T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CATCCTTCAGCGTCTCCATGT 0.517000 Mis DLBCL 20 370 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981660 7981660 + Missense_Mutation SNP T T C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:7981660T>C ENST00000328600.2 - 2 1660 c.1499A>G c.(1498-1500)gAg>gGg p.E500G NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 500 ATP binding p.E500G(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCTTTACCTCCAGCAGCCT 0.493000 8 147 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40004382 40004382 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:40004382G>A ENST00000293303.4 + 5 1803 c.1650G>A c.(1648-1650)aaG>aaA p.K550K NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 550 cytoplasm p.K550K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) ATGATGAAAAGACCGATGAGT 0.463000 12 117 0 0 1 0 0 BOK 666 broad.mit.edu 37 2 242501828 242501828 + Silent SNP C C T rs145137590 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:242501828C>T ENST00000318407.3 + 3 588 c.286C>T c.(286-288)Ctg>Ttg p.L96L NM_032515.4 NP_115904.1 Q9UMX3 BOK_HUMAN BCL2-related ovarian killer 96 activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis mitochondrial membrane|nucleus p.L96L(1) large_intestine(1)|lung(3)|ovary(1) 5 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835) GCACATCTCCCTGCAGTCTGA 0.637000 4 9 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975129 31975129 + RNA SNP T T C rs113153064 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:31975129T>C ENST00000342991.6 + 0 1252 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen AAGAGGGCTCTGGACAGCTCC 0.607000 3 12 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43818488 43818488 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:43818488C>A ENST00000382031.1 + 5 5562 c.5531C>A c.(5530-5532)gCc>gAc p.A1844D MAP1A_ENST00000399453.1_Missense_Mutation_p.A1606D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1606D P78559 MAP1A_HUMAN microtubule-associated protein 1A 1606 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A1606D(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGGTCAAGGCCATGGAAGAG 0.512000 6 46 0.00198382 0.00201893 1 1 0 LOC401127 401127 broad.mit.edu 37 4 39482584 39482584 + RNA SNP T T C rs17438520 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr4:39482584T>C ENST00000513652.1 + 0 591 GCCACAAGACTGCTAGCTCAC 0.453000 5 67 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216983788 216983788 + Missense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:216983788C>T ENST00000392133.3 + 7 852 c.391C>T c.(391-393)Cat>Tat p.H131Y XRCC5_ENST00000392132.2_Missense_Mutation_p.H131Y P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 131 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding p.H131Y(1) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TGAGAAGAGGCATATTGAAAT 0.343000 Non-homologous end-joining 13 149 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650622 90650622 + Nonsense_Mutation SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:90650622C>T ENST00000282146.4 + 2 943 c.502C>T c.(502-504)Cga>Tga p.R168* NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 168 integral to membrane potassium channel activity|voltage-gated ion channel activity p.R168*(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GCTCCGGAGACGAGGGGCCCT 0.612000 14 67 0 0 1 0 0 TTC23 64927 broad.mit.edu 37 15 99696405 99696405 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:99696405C>A ENST00000394132.2 - 12 1908 c.1091G>T c.(1090-1092)gGa>gTa p.G364V TTC23_ENST00000394136.1_Missense_Mutation_p.G364V|TTC23_ENST00000558663.1_Missense_Mutation_p.G364V|TTC23_ENST00000394129.2_Missense_Mutation_p.G364V|TTC23_ENST00000394135.3_Missense_Mutation_p.G364V|TTC23_ENST00000558613.1_Missense_Mutation_p.G364V|TTC23_ENST00000262074.4_Missense_Mutation_p.G364V|TTC23_ENST00000394130.1_Missense_Mutation_p.G364V Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 364 binding p.G364V(1) endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) CAGGTCTGCTCCTCCCAGGAG 0.577000 7 43 0.000157383 0.000163055 1 1 0 POTEA 340441 broad.mit.edu 37 8 43197329 43197329 + RNA SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:43197329G>A ENST00000522175.2 + 0 1082 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.?(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TTATCTTACAGGTCAAAAGCC 0.318000 66 193 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42089474 42089474 + Missense_Mutation SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr20:42089474A>G ENST00000244020.3 + 6 912 c.806A>G c.(805-807)tAt>tGt p.Y269C NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 269 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.Y269C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 AAGGATGAGTATGAGAAATCT 0.453000 4 52 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89911744 89911744 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:89911744G>T ENST00000378247.3 + 2 302 c.259G>T c.(259-261)Gtc>Ttc p.V87F SPIRE2_ENST00000563972.1_Missense_Mutation_p.V87F|SPIRE2_ENST00000393062.2_Missense_Mutation_p.V87F|SPIRE2_ENST00000564878.1_3'UTR NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 87 KIND. transport cytoplasm|cytoskeleton actin binding p.V87F(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TGCAACCATGGTCGTGCCACT 0.468000 4 28 3.59834e-05 3.7619e-05 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32031135 32031135 + Silent SNP A A G rs6419811 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:32031135A>G ENST00000360311.4 + 2 1113 c.564A>G c.(562-564)tcA>tcG p.S188S NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 ATGCTTCCTCAGTTCTAACGT 0.358000 4 78 0 0 1 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892293 90892293 + Missense_Mutation SNP C C T rs2589973 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:90892293C>T ENST00000412799.2 - 1 376 c.137G>A c.(136-138)aGg>aAg p.R46K GTACTTCCTCCTGTCCAGATC 0.493000 3 30 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30748321 30748321 + Silent SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:30748321G>C ENST00000263056.1 + 8 1860 c.1164G>C c.(1162-1164)ctG>ctC p.L388L MAP3K8_ENST00000542547.1_Silent_p.L388L|MAP3K8_ENST00000375321.1_Silent_p.L388L NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 388 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding p.L388L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) ATGAGGCCCTGAACCCGCCCA 0.567000 7 57 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154270922 154270922 + Silent SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:154270922A>G ENST00000285873.7 - 26 4216 c.4141T>C c.(4141-4143)Ttg>Ctg p.L1381L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1381 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding p.L1381L(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTCTGCCAAGGTCTCTTGG 0.453000 17 134 0 0 1 0 0 ELOF1 84337 broad.mit.edu 37 19 11665121 11665121 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:11665121C>T ENST00000586683.1 - 2 99 c.42G>A c.(40-42)aaG>aaA p.K14K ELOF1_ENST00000590700.1_Silent_p.K14K|ELOF1_ENST00000589171.1_Silent_p.K14K|ELOF1_ENST00000586120.1_Silent_p.K14K|ELOF1_ENST00000252445.3_Silent_p.K14K|ELOF1_ENST00000591912.1_Silent_p.K14K|ELOF1_ENST00000591674.1_Silent_p.K21K|ELOF1_ENST00000587806.1_Silent_p.K35K P60002 ELOF1_HUMAN elongation factor 1 homolog (S. cerevisiae) 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.K14K(1) endometrium(3)|lung(2) 5 CTGTCATCTTCTTCTTGGGAG 0.552000 15 61 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223283837 223283837 + Missense_Mutation SNP T T C rs5744177 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:223283837T>C ENST00000540964.1 - 4 2998 c.2537A>G c.(2536-2538)gAc>gGc p.D846G TLR5_ENST00000342210.6_Missense_Mutation_p.D846G O60602 TLR5_HUMAN toll-like receptor 5 846 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity p.D846G(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AATGTTATTGTCTTTCTTCTT 0.378000 5 94 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78602256 78602256 + Missense_Mutation SNP A A C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:78602256A>C ENST00000396137.4 + 7 2402 c.1940A>C c.(1939-1941)gAa>gCa p.E647A JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 647 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity p.E293A(1)|p.E647A(1) endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ATTGAAGATGAATATAGAACC 0.303000 22 453 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74495917 74495917 + Missense_Mutation SNP A A G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:74495917A>G ENST00000394009.3 + 3 439 c.316A>G c.(316-318)Aca>Gca p.T106A CCDC176_ENST00000489323.1_3'UTR NM_025057.2 NP_079333.2 coiled-coil domain containing 176 p.T106A(1) ATTAAATGAAACAAAGGAAAA 0.358000 3 17 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277099 186277099 + Missense_Mutation SNP G G A rs143599637 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:186277099G>A ENST00000445192.2 + 7 2293 c.2248G>A c.(2248-2250)Gct>Act p.A750T PRG4_ENST00000367486.3_Missense_Mutation_p.A707T|PRG4_ENST00000367485.4_Missense_Mutation_p.A657T|PRG4_ENST00000367483.4_Missense_Mutation_p.A709T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 750 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.A750T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGACAAGCCCGCTCCAACTAC 0.607000 4 15 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17363049 17363049 + Missense_Mutation SNP C C A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:17363049C>A ENST00000377602.4 - 8 1099 c.1025G>T c.(1024-1026)gGa>gTa p.G342V NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 342 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.G342V(1) endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 GGGCCAGAATCCATACAGCTT 0.433000 131 271 9.59235e-44 1.0922e-43 1 1 0 LOC401127 401127 broad.mit.edu 37 4 39482942 39482942 + RNA SNP A A C rs10010309 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr4:39482942A>C ENST00000513652.1 + 0 949 ACATCTGGAAACTTCAGACGA 0.453000 4 43 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977661 12977661 + Silent SNP C C T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:12977661C>T ENST00000273221.4 - 3 1113 c.897G>A c.(895-897)tcG>tcA p.S299S NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 299 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity p.S299S(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATCACTGTACGAGGCCGTCA 0.687000 4 14 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105801076 105801076 + Missense_Mutation SNP G G T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr10:105801076G>T ENST00000353479.5 - 38 2922 c.2632C>A c.(2632-2634)Ccc>Acc p.P878T COL17A1_ENST00000369733.3_Missense_Mutation_p.P878T NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 878 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P878T(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCTCGGGGTCCTGGTGGG 0.647000 6 45 1.26484e-09 1.42605e-09 1 1 0 LARGE 9215 broad.mit.edu 37 22 33777944 33777944 + Silent SNP G G A rs144216539 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr22:33777944G>A ENST00000354992.2 - 10 1663 c.1092C>T c.(1090-1092)acC>acT p.T364T LARGE_ENST00000397394.2_Silent_p.T364T|LARGE_ENST00000402320.1_Silent_p.T364T|LARGE_ENST00000452586.2_Silent_p.T163T|LARGE_ENST00000437602.2_Silent_p.T364T|LARGE_ENST00000337431.2_Silent_p.T364T NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 364 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity p.T364T(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GCTCGGAGCGGGTGTGGTCTG 0.552000 5 98 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312082 102312082 + RNA SNP G G C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr15:102312082G>C ENST00000561463.1 + 0 13450 TGGAGAGAAGGAGGTGGGGAT 0.602000 8 57 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628194 3628194 + Missense_Mutation SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:3628194G>A ENST00000325418.4 + 1 984 c.965G>A c.(964-966)cGc>cAc p.R322H ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 322 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity p.R322H(1) CCCAAGGGCCGCATTGTGCCA 0.582000 3 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401515 34401515 + Frame_Shift_Del DEL G G - rs150564422 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:34401515delG ENST00000373381.4 - 4 734 c.558delC c.(556-558)ccfs p.P186fs NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 146 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGATGCCATTGGGCAGCCTCC 0.612 8 2109 --- --- --- --- SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 53 303 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr1:154246356_154246357insG ENST00000328703.7 + 3 636_637 c.423_424insG c.(421-426)ttggggfs p.LG141fs HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 141 Involved in HCLS1 binding. F -> L (in SCN3; mild form). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 Kostmann syndrome 8 230 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 25966872 25966873 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:25966872_25966873insG ENST00000435504.4 - 13 2626_2627 c.2333_2334insC c.(2332-2334)cgtfs p.R778fs ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGAGGCACTGGGGGGGTTTG 0.554 7 135 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179535845 179535845 + Frame_Shift_Del DEL A A - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:179535845delA ENST00000589042.1 - 156 35504 c.35280delT c.(35278-35280)gtfs p.V11761fs TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.V11387fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.V10460fs|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9879 Glu-rich.|Pro-rich. 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) TTCGAGGAACAACTTTAGTGG 0.353 48 87 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447378 226447379 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr2:226447378_226447379insC ENST00000272907.6 + 4 1658_1659 c.1245_1246insC c.(1243-1248)ccccccfs p.PP415fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 415 Pro-rich. CGTCGCCCCCACCCCCGTCTAC 0.678 2 4 --- --- --- --- UBA7 7318 broad.mit.edu 37 3 49846857 49846860 + Frame_Shift_Del DEL TGTT TGTT - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:49846857_49846860delTGTT ENST00000333486.3 - 17 2284_2287 c.2126_2129delAACA c.(2125-2130)agfs p.KQ709fs NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 709 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGGGGACACTGTTTGGGACCTGA 0.564 7 45 --- --- --- --- PFN2 5217 broad.mit.edu 37 3 149684345 149684346 + Frame_Shift_Ins INS - - GACA TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr3:149684345_149684346insGACA ENST00000239940.7 - 3 605_606 c.353_354insTGTC c.(352-354)ggtfs p.G118fs PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000481275.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000475518.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000498307.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000497148.1_Frame_Shift_Ins_p.G69fs|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Frame_Shift_Ins_p.G103fs|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Frame_Shift_Ins_p.G69fs P35080 PROF2_HUMAN profilin 2 118 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTCCATGGACCCCTTCTTTTCC 0.396 18 204 --- --- --- --- APBB2 323 broad.mit.edu 37 4 41015705 41015706 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr4:41015705_41015706insG ENST00000295974.8 - 6 1358_1359 c.729_730insC c.(727-732)acactgfs p.L244fs APBB2_ENST00000506352.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000508593.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000513140.1_Frame_Shift_Ins_p.L244fs NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 244 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 AGTGCACAGTCGGTTTTGGCCC 0.579 9 1229 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39203039 39203040 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr5:39203039_39203040insC ENST00000351578.6 - 2 213_214 c.23_24insG c.(22-24)gaafs p.E8fs FYB_ENST00000505428.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.E8fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.E18fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 8 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CTGTCGGGTTGCCCCCCGTGTT 0.446 7 324 --- --- --- --- NCR3 259197 broad.mit.edu 37 6 31557857 31557858 + Frame_Shift_Del DEL CA CA - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:31557857_31557858delCA ENST00000376073.4 - 2 352_353 c.89_90delTG c.(88-90)cfs p.L30fs NCR3_ENST00000376072.3_Frame_Shift_Del_p.L30fs|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376071.4_Frame_Shift_Del_p.L30fs|NCR3_ENST00000340027.5_Frame_Shift_Del_p.L30fs NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 30 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 AGGATCCTTCCAGGGTACGAAT 0.579 50 246 --- --- --- --- ALDH8A1 64577 broad.mit.edu 37 6 135253995 135253996 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:135253995_135253996insC ENST00000265605.2 - 5 835_836 c.767_768insG c.(766-768)gaafs p.E256fs ALDH8A1_ENST00000367845.2_Frame_Shift_Ins_p.E256fs|ALDH8A1_ENST00000367847.2_Frame_Shift_Ins_p.E206fs NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 256 retinal metabolic process cytoplasm retinal dehydrogenase activity p.G256D(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CAGGATTCTTGCCCCCCAGCTC 0.619 7 246 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155750039 155750040 + Frame_Shift_Ins INS - - G rs79326507 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr6:155750039_155750040insG ENST00000159060.2 - 9 1135_1136 c.1033_1034insC c.(1033-1035)ggafs p.G345fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 345 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AAAGTCCTCCTGGGGGGCAGAG 0.614 7 286 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572984 103572992 + In_Frame_Del DEL TGCAGCCCC TGCAGCCCC - rs3018444 byFrequency TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr8:103572984_103572992delTGCAGCCCC ENST00000285402.3 + 2 781_789 c.625_633delTGCAGCCCC c.(625-633)del p.CSP215del ODF1_ENST00000518835.1_Splice_Site_p.3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 215 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACTTCTCCTtgcagcccctgcagcccct 0.584 8 49 --- --- --- --- OBP2A 29991 broad.mit.edu 37 9 138441685 138441686 + Frame_Shift_Ins INS - - C rs112851559 by1000genomes TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr9:138441685_138441686insC ENST00000340780.3 + 7 624_625 c.582_583insC c.(580-585)caccccfs p.HP194fs OBP2A_ENST00000342114.4_3'UTR|OBP2A_ENST00000539850.1_3'UTR|OBP2A_ENST00000371776.1_3'UTR Q9NY56 OBP2A_HUMAN odorant binding protein 2A 0 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CAGCACAGCAGCCCCCGGGTCT 0.678 2 4 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124765393 124765394 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:124765393_124765394insC ENST00000306534.3 - 6 1480_1481 c.995_996insG c.(994-996)gccfs p.A332fs ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.A187fs NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 332 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGCTGTCAGGGCCTCGAGCCCG 0.609 7 166 --- --- --- --- ACRV1 56 broad.mit.edu 37 11 125550635 125550645 + Frame_Shift_Del DEL CCAAGCAGATA CCAAGCAGATA - TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr11:125550635_125550645delCCAAGCAGATA ENST00000533904.1 - 1 373_383 c.31_41delTATCTGCTTGG c.(31-42)afs p.YLLG11fs ACRV1_ENST00000445562.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000453509.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000345274.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000353070.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000257382.2_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000426183.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000433875.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000425431.1_Frame_Shift_Del_p.YLLG11fs|ACRV1_ENST00000348856.3_Frame_Shift_Del_p.YLLG11fs P26436 ASPX_HUMAN acrosomal vesicle protein 1 11 multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) TCTGGCAGATCCAAGCAGATAAAGACTCATT 0.469 93 539 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2977901 2977910 + Frame_Shift_Del DEL GGTCTCGAAG GGTCTCGAAG - rs148573089 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr12:2977901_2977910delGGTCTCGAAG ENST00000342628.2 - 4 778_787 c.665_674delCTTCGAGACC c.(664-675)cafs p.PSRP222fs FOXM1_ENST00000361953.3_Frame_Shift_Del_p.PSRP222fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.PSRP222fs|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 222 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGACGCTGATGGTCTCGAAGGCTCCTCAAC 0.505 8 155 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72165808 72165809 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr14:72165808_72165809insG ENST00000555818.1 + 11 3833_3834 c.3485_3486insG c.(3484-3486)gggfs p.G1162fs SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1162 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTTCTGTGGGGGGCACTT 0.495 8 485 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 7 720 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42476034 42476035 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr17:42476034_42476035insG ENST00000434000.1 - 9 3458_3459 c.3176_3177insC c.(3175-3177)ctcfs p.L1059fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1137fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1137 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCCAAGAGATGGGGGGAGCTT 0.554 9 634 --- --- --- --- U2AF2 11338 broad.mit.edu 37 19 56171936 56171937 + Frame_Shift_Ins INS - - C TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr19:56171936_56171937insC ENST00000450554.2 + 4 1244_1245 c.285_286insC c.(283-288)ccccccfs p.PP95fs U2AF2_ENST00000308924.4_Frame_Shift_Ins_p.PP95fs NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 95 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GGGACGTGCCACCCCCAGGCTT 0.634 7 117 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11071749 11071750 + RNA INS - - ACTT rs141387552 TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr21:11071749_11071750insACTT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gctcagtgataacttaaccacc 0.485 2 4 --- --- --- --- SH3BGR 6450 broad.mit.edu 37 21 40834329 40834330 + Frame_Shift_Ins INS - - T TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr21:40834329_40834330insT ENST00000333634.4 + 2 341_342 c.263_264insT c.(262-264)gttfs p.V88fs SH3BGR_ENST00000380634.1_5'UTR|SH3BGR_ENST00000380637.3_5'UTR|SH3BGR_ENST00000380631.1_5'UTR|SH3BGR_ENST00000458295.1_5'UTR NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 88 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GAAGTAGTGGGTTTTTTGGAAG 0.342 7 191 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09226bc4-0202-4405-b3c9-208e8ffb7408 e21e8eca-7af6-43a3-90e3-73df460655fa g.chr22:21138419_21138420insG ENST00000215727.5 + 3 1332_1333 c.1049_1050insG c.(1048-1050)gggfs p.G350fs PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.540 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 401 --- --- --- ---