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 KIF2B 84643 broad.mit.edu 37 17 51901912 51901912 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr17:51901912C>T ENST00000268919.4 + 1 1674 c.1518C>T c.(1516-1518)tcC>tcT p.S506S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 506 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCCGGGACTCCTTTATAGGCC 0.483000 9 40 0 0 0.000442599 0 0 SNIP1 79753 broad.mit.edu 37 1 38005830 38005830 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:38005830C>T ENST00000296215.6 - 3 926 c.854G>A c.(853-855)cGa>cAa p.R285Q NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 285 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) GCGGCGGTGTCGACCCAGTAG 0.468000 18 53 0 0 0.00074312 0 0 RFC2 5982 broad.mit.edu 37 7 73646517 73646517 + Silent SNP C C A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:73646517C>A ENST00000055077.3 - 11 1044 c.984G>T c.(982-984)gcG>gcT p.A328A RFC2_ENST00000352131.3_Silent_p.A294A NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 328 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 TCACTCCTTCCGCTATTTTCA 0.433000 4 48 0.000602214 0.00888513 0.000602214 1 0 ZFP42 132625 broad.mit.edu 37 4 188924150 188924150 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr4:188924150C>T ENST00000326866.4 + 4 597 c.189C>T c.(187-189)ctC>ctT p.L63L ZFP42_ENST00000509524.1_Silent_p.L63L NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 63 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CTCAGGCTCTCGGAGGGGATG 0.512000 14 48 0 0 0.000308642 0 0 FAM78B 149297 broad.mit.edu 37 1 166135377 166135377 + Missense_Mutation SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:166135377T>C ENST00000338353.3 - 2 698 c.109A>G c.(109-111)Acc>Gcc p.T37A FAM78B_ENST00000354422.3_Missense_Mutation_p.T37A Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 37 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) ATGGGCGAGGTCTCCTCGATG 0.652000 5 7 0 0 0.000157383 0 0 KCNN4 3783 broad.mit.edu 37 19 44271811 44271811 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr19:44271811G>A ENST00000262888.3 - 8 1563 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 390 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding p.R390W(1) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TCCAGGGCCCGGTGTGAGCTG 0.622000 14 79 0 0 0.000308642 0 0 POLA2 23649 broad.mit.edu 37 11 65036175 65036175 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr11:65036175T>A ENST00000265465.3 + 4 860 c.329T>A c.(328-330)tTg>tAg p.L110* POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 110 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GAAATCCTCTTGAACTCTTAC 0.373000 13 16 0 0 0.00074312 0 0 NDUFA4 4697 broad.mit.edu 37 7 10977742 10977742 + Missense_Mutation SNP T T A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:10977742T>A ENST00000339600.5 - 3 362 c.164A>T c.(163-165)aAa>aTa p.K55I NM_002489.3 NP_002480.1 O00483 NDUA4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa 55 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(2)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) NADH(DB00157) GGGACCCAGTTTGTTCCAGGG 0.318000 13 36 0 0 0.000422831 0 0 PKP1 5317 broad.mit.edu 37 1 201286702 201286702 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:201286702C>T ENST00000263946.3 + 5 1100 c.849C>T c.(847-849)gtC>gtT p.V283V PKP1_ENST00000367324.3_Silent_p.V283V|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Silent_p.V283V NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 283 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CCTGGCAGGTCTATCAGCTGG 0.547000 9 61 0 0 0.000978159 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885324 180885324 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:180885324G>A ENST00000367588.4 + 2 140 c.85G>A c.(85-87)Gtg>Atg p.V29M NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 29 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AGCCAGCCCCGTGGAGGGGAC 0.607000 11 47 0 0 0.000219431 0 0 C6orf222 389384 broad.mit.edu 37 6 36288968 36288968 + Silent SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr6:36288968T>G ENST00000437635.2 - 10 1809 c.1632A>C c.(1630-1632)gcA>gcC p.A544A NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 544 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTTGGAGAAGTGCCACAAGCT 0.542000 10 1 0 0 0.000442599 0 0 C7orf31 136895 broad.mit.edu 37 7 25176283 25176283 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:25176283G>A ENST00000409280.1 - 10 1389 c.1081C>T c.(1081-1083)Cct>Tct p.P361S C7orf31_ENST00000283905.3_Missense_Mutation_p.P361S Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 361 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 AAAACTCTAGGAGTACAATCT 0.453000 26 56 0 0 0.000878237 0 0 NUP210 23225 broad.mit.edu 37 3 13438970 13438970 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:13438970C>T ENST00000254508.5 - 3 405 c.323G>A c.(322-324)cGc>cAc p.R108H NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 108 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGCATCACAGCGCAGGACCTG 0.622000 14 21 0 0 0.000566183 0 0 MARK1 4139 broad.mit.edu 37 1 220777410 220777410 + Splice_Site SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:220777410T>G ENST00000402574.1 + 6 1023 c.19_splice c.e6-1 p.G7_splice MARK1_ENST00000366917.4_Splice_Site_p.G142_splice|MARK1_ENST00000366918.4_Splice_Site_p.G120_splice NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 142 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) CTGATTCAGGTGAAGTATTTG 0.323000 12 96 0 0 0.000308642 0 0 ZNF711 7552 broad.mit.edu 37 X 84526576 84526576 + Missense_Mutation SNP G G T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chrX:84526576G>T ENST00000360700.4 + 10 3052 c.2166G>T c.(2164-2166)ttG>ttT p.L722F ZNF711_ENST00000395402.1_Missense_Mutation_p.L684F|ZNF711_ENST00000276123.3_Missense_Mutation_p.L676F|ZNF711_ENST00000373165.3_Missense_Mutation_p.L676F|ZNF711_ENST00000542798.1_Missense_Mutation_p.L518F Q9Y462 ZN711_HUMAN zinc finger protein 711 676 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ATCAGCCATTGAAATGTAAAA 0.373000 18 45 3.52763e-06 5.56994e-05 0.000566183 1 0 NOLC1 9221 broad.mit.edu 37 10 103917932 103917932 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr10:103917932G>A ENST00000405356.1 + 5 803 c.568G>A c.(568-570)Gtg>Atg p.V190M NOLC1_ENST00000605788.1_Missense_Mutation_p.V190M|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.V191M Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 190 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GATAACACCTGTGACAGTTAA 0.512000 6 27 0 0 8.12818e-05 0 0 ASMT 438 broad.mit.edu 37 X 1746653 1746653 + Silent SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chrX:1746653G>A ENST00000381241.3 + 4 631 c.432G>A c.(430-432)acG>acA p.T144T ASMT_ENST00000381229.4_Silent_p.T144T|RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Silent_p.T144T NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 144 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGCTTTTTACGGCCATCTACA 0.393000 11 190 0 0 0.000219431 0 0 ZNF462 58499 broad.mit.edu 37 9 109689800 109689800 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr9:109689800C>T ENST00000277225.5 + 3 3896 c.3607C>T c.(3607-3609)Cgg>Tgg p.R1203W ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203W|ZNF462_ENST00000441147.2_Missense_Mutation_p.R48W Q96JM2 ZN462_HUMAN zinc finger protein 462 1203 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TTATGGGAACCGGACGGTCAA 0.527000 162 122 0 0 0.000781405 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55047086 55047086 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr19:55047086G>A ENST00000335056.3 + 4 669 c.631G>A c.(631-633)Gac>Aac p.D211N KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GGCTCCCAGTGACCCCCTGGA 0.547000 7 60 0 0 0.000157383 0 0 KLHL40 131377 broad.mit.edu 37 3 42728091 42728091 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:42728091C>T ENST00000287777.4 + 1 1081 c.981C>T c.(979-981)ggC>ggT p.G327G NM_152393.2 NP_689606.2 kelch-like family member 40 GTGAGGAGGGCGCTGTGGCCT 0.572000 12 29 0 0 0.000978159 0 0 EPPK1 83481 broad.mit.edu 37 8 144946344 144946344 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr8:144946344C>T ENST00000525985.1 - 2 1149 c.1078G>A c.(1078-1080)Gag>Aag p.E360K P58107 EPIPL_HUMAN epiplakin 1 360 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGGCCTGCTCGGCCACCAGG 0.662000 4 24 0 0 0.00024832 0 0 PHTF2 57157 broad.mit.edu 37 7 77583129 77583129 + Missense_Mutation SNP C C A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:77583129C>A ENST00000416283.2 + 17 2279 c.2153C>A c.(2152-2154)cCg>cAg p.P718Q PHTF2_ENST00000248550.7_Missense_Mutation_p.P752Q|PHTF2_ENST00000307305.8_Missense_Mutation_p.P714Q|PHTF2_ENST00000422959.2_Missense_Mutation_p.P718Q|PHTF2_ENST00000275575.7_Missense_Mutation_p.P662Q NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 ACAATGAATCCGCTGCTTTAT 0.373000 4 48 0.000602214 0.00888513 0.000602214 1 0 PCDHB12 56124 broad.mit.edu 37 5 140590562 140590562 + Missense_Mutation SNP G G C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr5:140590562G>C ENST00000239450.2 + 1 2272 c.2083G>C c.(2083-2085)Gcc>Ccc p.A695P PCDHB12_ENST00000541609.1_Missense_Mutation_p.A358P NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 695 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGCGTTGGCCTCAGTGTC 0.711000 22 76 0 0 0.000295444 0 0 PCF11 51585 broad.mit.edu 37 11 82879917 82879917 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr11:82879917G>A ENST00000298281.4 + 8 2992 c.2540G>A c.(2539-2541)cGg>cAg p.R847Q NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 847 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GGTGGTTTTCGGTTTGAAGGT 0.567000 16 28 0 0 0.000422831 0 0 DLGAP2 9228 broad.mit.edu 37 8 1624758 1624758 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr8:1624758C>T ENST00000421627.2 + 8 2156 c.2022C>T c.(2020-2022)gtC>gtT p.V674V NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 753 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCACTCTGTCGGGGTGCAAG 0.542000 6 2 0 0 0.00116845 0 0 SSBP2 23635 broad.mit.edu 37 5 80762838 80762838 + Missense_Mutation SNP G G T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr5:80762838G>T ENST00000320672.4 - 9 803 c.593C>A c.(592-594)cCc>cAc p.P198H SSBP2_ENST00000509053.1_Missense_Mutation_p.P168H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P178H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P168H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P176H NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 198 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) ATTCAGTGGGGGTCTCATTGC 0.393000 13 27 1.15088e-07 1.84962e-06 0.000422831 1 0 RNF148 378925 broad.mit.edu 37 7 122342619 122342619 + Silent SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:122342619G>A ENST00000434824.1 - 1 402 c.186C>T c.(184-186)ttC>ttT p.F62F CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 62 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 AATGATTCCCGAACACTCCAC 0.468000 13 24 0 0 0.000219431 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654923 46654923 + Missense_Mutation SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr22:46654923T>C ENST00000253255.5 - 1 4296 c.4297A>G c.(4297-4299)Agt>Ggt p.S1433G NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1433 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTAAGACACTTTCAATTCCT 0.343000 11 66 0 0 0.000978159 0 0 CTSG 1511 broad.mit.edu 37 14 25043625 25043625 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr14:25043625C>T ENST00000216336.2 - 4 456 c.420G>A c.(418-420)acG>acA p.T140T NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 140 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.T140T(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CAGTGCACAGCGTCCCGGGTC 0.612000 14 34 0 0 0.000422831 0 0 LILRB4 11006 broad.mit.edu 37 19 55176302 55176302 + Splice_Site SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr19:55176302T>G ENST00000391736.1 + 7 1021 c.e7+2 LILRB4_ENST00000391734.3_Splice_Site|LILRB4_ENST00000430952.2_Splice_Site|LILRB4_ENST00000391733.3_Splice_Site|LILRB4_ENST00000270452.2_Splice_Site NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CAACAGCTGGTGAGTCTCAGA 0.572000 12 9 0 0 0.000978159 0 0 IMPG2 50939 broad.mit.edu 37 3 101022994 101022994 + Missense_Mutation SNP A A T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:101022994A>T ENST00000193391.7 - 3 684 c.497T>A c.(496-498)aTg>aAg p.M166K NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 166 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ACTTACCTTCATGATTAAGCT 0.393000 17 40 0 0 0.00074312 0 0 GLRB 2743 broad.mit.edu 37 4 158059985 158059985 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr4:158059985G>A ENST00000264428.4 + 7 905 c.635G>A c.(634-636)cGa>cAa p.R212Q GLRB_ENST00000541722.1_Missense_Mutation_p.R212Q|GLRB_ENST00000509282.1_Missense_Mutation_p.R212Q|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 212 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GATGATTTACGATTTATCTGG 0.259000 13 71 0 0 0.000308642 0 0 TP63 8626 broad.mit.edu 37 3 189349361 189349361 + Silent SNP C C A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:189349361C>A ENST00000264731.3 + 1 146 c.57C>A c.(55-57)atC>atA p.I19I TP63_ENST00000418709.2_Silent_p.I19I|TP63_ENST00000382063.4_Silent_p.I19I|TP63_ENST00000440651.2_Silent_p.I19I|TP63_ENST00000320472.5_Silent_p.I19I|TP63_ENST00000392460.3_Silent_p.I19I NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 19 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCCTTACATCCAGCGGTGAG 0.398000 HNSCC(45;0.13) 15 20 5.01169e-05 0.000764496 0.000566183 1 0 COL4A2 1284 broad.mit.edu 37 13 111137367 111137367 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr13:111137367C>T ENST00000360467.5 + 33 3324 c.3018C>T c.(3016-3018)ggC>ggT p.G1006G NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1006 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GATACCTGGGCGCAAAAGGTG 0.627000 3 8 0 0 6.4e-05 0 0 C1orf173 127254 broad.mit.edu 37 1 75055422 75055422 + Missense_Mutation SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:75055422T>G ENST00000326665.5 - 12 2287 c.2069A>C c.(2068-2070)aAa>aCa p.K690T RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K493T NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 690 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGAAACATGTTTCCCGGACTT 0.453000 66 72 0 0 0.000781405 0 0 TMC3 342125 broad.mit.edu 37 15 81625347 81625347 + Missense_Mutation SNP C C G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr15:81625347C>G ENST00000558726.1 - 22 2854 c.2719G>C c.(2719-2721)Gaa>Caa p.E907Q TMC3_ENST00000359440.5_Missense_Mutation_p.E906Q|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 906 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AAATGTCTTTCTGGCCAGACA 0.522000 17 44 0 0 0.000958276 0 0 RSBN1L 222194 broad.mit.edu 37 7 77325804 77325804 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:77325804C>T ENST00000334955.7 + 1 45 c.18C>T c.(16-18)agC>agT p.S6S NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 6 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AACCGCCGAGCCCCGTGCACT 0.692000 45 9 0 0 0.000781405 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408731 105408731 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr14:105408731C>T ENST00000333244.5 - 7 13176 c.13057G>A c.(13057-13059)Gct>Act p.A4353T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4353 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGATCAGCGGAAGGGGGC 0.622000 29 68 0 0 0.00106085 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681625 125681625 + Missense_Mutation SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr9:125681625T>C ENST00000373656.3 - 2 662 c.589A>G c.(589-591)Aaa>Gaa p.K197E ZBTB26_ENST00000373654.1_Missense_Mutation_p.K197E NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TGATCTTTTTTACTTCTAACC 0.388000 12 39 0 0 0.000151284 0 0 WASH6P 653440 broad.mit.edu 37 X 155255094 155255094 + RNA SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chrX:155255094T>C ENST00000285718.7 + 0 1399 WASH6P_ENST00000461007.1_RNA TGCTCTGACATGGACACAGCC 0.617000 3 6 0 0 6.4e-05 0 0 PIK3R4 30849 broad.mit.edu 37 3 130405181 130405181 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:130405181C>T ENST00000356763.3 - 15 3906 c.3349G>A c.(3349-3351)Gtg>Atg p.V1117M PIK3R4_ENST00000512677.1_5'UTR NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1117 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GAGCCATTCACAGTGGCATAG 0.463000 14 41 0 0 0.000151284 0 0 CPEB1 64506 broad.mit.edu 37 15 83226697 83226697 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr15:83226697C>T ENST00000563800.1 - 4 2225 c.500G>A c.(499-501)gGa>gAa p.G167E CPEB1_ENST00000564522.1_Missense_Mutation_p.G65E|CPEB1_ENST00000562019.1_Missense_Mutation_p.G140E|CPEB1_ENST00000450751.2_Missense_Mutation_p.G65E|CPEB1_ENST00000423133.2_Missense_Mutation_p.G65E|CPEB1_ENST00000398591.2_Missense_Mutation_p.G65E|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.G143E|CPEB1_ENST00000568757.1_Missense_Mutation_p.G65E|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.G140E Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 140 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding p.G65E(1) breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) GGGGGGTTTTCCTAGGACATT 0.522000 17 31 0 0 0.00121646 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183148 167183148 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:167183148C>T ENST00000476257.1 - 6 1010 c.712G>A c.(712-714)Gaa>Aaa p.E238K SERPINI2_ENST00000461846.1_Missense_Mutation_p.E238K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E238K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E238K O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 238 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TAAGACAATTCTAAAACTTGG 0.313000 5 71 0 0 0.000602214 0 0 SNX33 257364 broad.mit.edu 37 15 75942635 75942635 + Missense_Mutation SNP G G C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr15:75942635G>C ENST00000308527.5 + 1 2389 c.1192G>C c.(1192-1194)Gtg>Ctg p.V398L NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 398 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GCTCAGCACTGTGGCATCAGA 0.572000 7 23 0 0 0.000157383 0 0 CSMD1 64478 broad.mit.edu 37 8 3081268 3081268 + Silent SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr8:3081268G>A ENST00000602557.1 - 29 5025 c.4470C>T c.(4468-4470)atC>atT p.I1490I CSMD1_ENST00000602723.1_Silent_p.I1490I|CSMD1_ENST00000542608.1_Silent_p.I1489I|CSMD1_ENST00000539096.1_Silent_p.I1489I|CSMD1_ENST00000400186.3_Silent_p.I1490I|CSMD1_ENST00000537824.1_Silent_p.I1489I|CSMD1_ENST00000520002.1_Silent_p.I1490I|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1490 CUB 9. integral to membrane p.I1489I(1)|p.I1218I(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATATCAAGGCGATGACAAAGT 0.428000 21 62 0 0 0.000720815 0 0 RAC1 5879 broad.mit.edu 37 7 6439807 6439807 + Missense_Mutation SNP T T G TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr7:6439807T>G ENST00000348035.4 + 4 489 c.276T>G c.(274-276)aaT>aaG p.N92K RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.N111K NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 92 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CATTTGAAAATGTCCGTGCAA 0.338000 23 55 0 0 0.00127121 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709190 176709190 + Missense_Mutation SNP C C A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:176709190C>A ENST00000367662.3 + 14 5173 c.4009C>A c.(4009-4011)Cat>Aat p.H1337N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1337 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTTTTCCACCATACCACCTC 0.488000 24 126 3.6726e-16 6.00971e-15 0.000586117 1 0 ITGB1 3688 broad.mit.edu 37 10 33196037 33196037 + Missense_Mutation SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr10:33196037T>C ENST00000423113.1 - 15 2365 c.2366A>G c.(2365-2367)aAt>aGt p.N789S ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron|ITGB1_ENST00000374956.4_Intron NM_033668.2 NP_391988.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 789 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) ATTCTTGAAATTATTAATAGG 0.308000 51 60 0 0 0.000781405 0 0 ZNF629 23361 broad.mit.edu 37 16 30794344 30794344 + Silent SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr16:30794344G>A ENST00000262525.4 - 3 1512 c.1305C>T c.(1303-1305)tgC>tgT p.C435C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGCTCTTGCCGCAGTCGGCGC 0.612000 29 36 0 0 0.00127121 0 0 SMAD6 4091 broad.mit.edu 37 15 67073772 67073772 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr15:67073772G>A ENST00000288840.5 + 4 2421 c.1390G>A c.(1390-1392)Gtc>Atc p.V464I SMAD6_ENST00000338426.4_Missense_Mutation_p.V203I NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 464 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCCCAACAGCGTCCGCATCAG 0.682000 13 19 0 0 0.000219431 0 0 SMARCA2 6595 broad.mit.edu 37 9 2161877 2161877 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr9:2161877C>T ENST00000382203.1 + 28 4382 c.4173C>T c.(4171-4173)atC>atT p.I1391I SMARCA2_ENST00000382186.1_Silent_p.I55I|SMARCA2_ENST00000324954.5_Silent_p.I55I|SMARCA2_ENST00000302401.3_Silent_p.I97I|SMARCA2_ENST00000382194.1_Silent_p.I1391I|SMARCA2_ENST00000357248.2_Silent_p.I1391I|SMARCA2_ENST00000382185.1_Silent_p.I55I|SMARCA2_ENST00000349721.2_Silent_p.I1391I P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1391 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACGCTATCATCGATACTGTGA 0.488000 9 17 0 0 0.000274275 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 51 0 0 0.00116845 0 0 RQCD1 9125 broad.mit.edu 37 2 219447748 219447748 + Missense_Mutation SNP T T C TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr2:219447748T>C ENST00000273064.6 + 3 634 c.259T>C c.(259-261)Tct>Cct p.S87P RQCD1_ENST00000295701.5_Missense_Mutation_p.S87P|RQCD1_ENST00000542068.1_Missense_Mutation_p.S87P|RQCD1_ENST00000509807.2_Missense_Mutation_p.S87P NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 87 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCACACCAGTCTAACAGAGT 0.388000 17 41 0 0 0.000375601 0 0 WNK2 65268 broad.mit.edu 37 9 95993181 95993181 + Missense_Mutation SNP G G T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr9:95993181G>T ENST00000297954.4 + 3 866 c.866G>T c.(865-867)cGg>cTg p.R289L WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.R275L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R289L|WNK2_ENST00000349097.3_5'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 289 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TACCTGAAGCGGTTCAAGGTG 0.622000 20 5 1.15919e-05 0.000179874 0.00121646 1 0 PITPNM2 57605 broad.mit.edu 37 12 123482052 123482052 + Missense_Mutation SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr12:123482052C>T ENST00000280562.5 - 10 1497 c.1292G>A c.(1291-1293)gGa>gAa p.G431E PITPNM2_ENST00000542749.1_Missense_Mutation_p.G431E|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G152E|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G431E Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 431 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GATGGTGCCTCCGTGCAGCAC 0.642000 25 46 0 0 0.000720815 0 0 PNN 5411 broad.mit.edu 37 14 39648305 39648305 + Missense_Mutation SNP G G A TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr14:39648305G>A ENST00000216832.4 + 7 576 c.509G>A c.(508-510)cGc>cAc p.R170H PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 170 Necessary for interaction with RNPS1. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) CAAAAGCGGCGCCAGGAAATT 0.358000 12 27 0 0 0.000151284 0 0 SNHG12 85028 broad.mit.edu 37 1 28906819 28906820 + RNA INS - - A rs147786269 TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr1:28906819_28906820insA ENST00000488745.1 - 0 1100 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA gactccgtctcaaaaaaaaaaa 0.490 3 4 --- --- --- --- NPHP3 27031 broad.mit.edu 37 3 132440872 132440873 + Frame_Shift_Del DEL AC AC - TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr3:132440872_132440873delAC ENST00000326682.8 - 1 403_404 c.327_328delGT c.(325-330)tttgfs p.LL109fs NPHP3_ENST00000383282.2_Frame_Shift_Del_p.LL109fs|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Frame_Shift_Del_p.LL109fs|NPHP3_ENST00000337331.5_Frame_Shift_Del_p.LL109fs Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 109 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCCATGGACAACAACTCCTGGT 0.673 13 36 --- --- --- --- NOL8 55035 broad.mit.edu 37 9 95072931 95072932 + Frame_Shift_Ins INS - - T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr9:95072931_95072932insT ENST00000545558.1 - 9 2990_2991 c.2498_2499insA c.(2497-2499)actfs p.T833fs NOL8_ENST00000442668.2_Frame_Shift_Ins_p.T833fs|NOL8_ENST00000542053.1_Frame_Shift_Ins_p.T765fs|NOL8_ENST00000358855.4_Frame_Shift_Ins_p.T765fs|NOL8_ENST00000535387.1_Frame_Shift_Ins_p.T795fs Q76FK4 NOL8_HUMAN nucleolar protein 8 833 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TATCAAACAGCTTCCCTGATGT 0.396 27 61 --- --- --- --- SIPA1 6494 broad.mit.edu 37 11 65414446 65414446 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr11:65414446delG ENST00000394224.3 + 8 2237 c.1941delG c.(1939-1941)ctfs p.L647fs SIPA1_ENST00000534313.1_Frame_Shift_Del_p.L647fs|SIPA1_ENST00000394227.3_Frame_Shift_Del_p.L545fs|SIPA1_ENST00000527525.1_Frame_Shift_Del_p.L545fs NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 647 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 AGCAGCAGCTGGACCTGTACC 0.721 2 4 --- --- --- --- MYO19 80179 broad.mit.edu 37 17 34883406 34883407 + Frame_Shift_Del DEL CT CT - TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr17:34883406_34883407delCT ENST00000431794.3 - 5 797_798 c.275_276delAG c.(274-276)gfs p.E92fs MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Frame_Shift_Del_p.E92fs|MYO19_ENST00000586007.1_Frame_Shift_Del_p.E92fs NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 92 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAGCATGGTACTCTCTCATTAG 0.579 15 20 --- --- --- --- RP11-53I6.2 0 broad.mit.edu 37 18 29656288 29656288 + RNA DEL T T - TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe8c62a6-c113-46e8-ab91-fdb90bb6a59f 7a49b1e5-5fb7-4a7e-85ba-f4c357089023 g.chr18:29656288delT ENST00000583184.1 + 0 539 tgtttttttgttttttttttg 0.438 2 4 --- --- --- ---