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 KCNMB2 10242 broad.mit.edu 37 3 178560595 178560595 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:178560595C>G ENST00000432997.1 + 5 930 c.578C>G c.(577-579)tCc>tGc p.S193C RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.S193C|KCNMB2_ENST00000358316.3_Missense_Mutation_p.S193C|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.S193C NM_001278911.1 NP_001265840.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 193 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) CTCTACAGTTCCAACGTGCTG 0.448000 21 21 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62649377 62649377 + Missense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:62649377G>T ENST00000377892.1 + 6 1057 c.833G>T c.(832-834)cGt>cTt p.R278L SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R185L|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R247L|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R146L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.R216L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R248L P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 247 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 CTGAAGGGGCGTCTCGATTAC 0.582000 7 49 5.18039e-06 5.54668e-06 1 1 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 3 15 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121259915 121259915 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr8:121259915C>T ENST00000297848.3 + 21 2813 c.2543C>T c.(2542-2544)aCg>aTg p.T848M COL14A1_ENST00000247781.3_Missense_Mutation_p.T753M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T848M NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 848 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTGCGCATTACGTGGGACCCC 0.468000 31 27 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:142713773C>G ENST00000610091.1 - 0 1885 TCTTTTTCCACATTGTCATTT 0.284000 3 45 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95560459 95560459 + Silent SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr14:95560459C>A ENST00000526495.1 - 26 5421 c.5130G>T c.(5128-5130)gcG>gcT p.A1710A DICER1_ENST00000556045.1_Silent_p.A608A|DICER1_ENST00000343455.3_Silent_p.A1710A|DICER1_ENST00000527414.1_Silent_p.A1710A|DICER1_ENST00000393063.1_Silent_p.A1710A|DICER1_ENST00000541352.1_Silent_p.A1710A Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1710 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGTCCAAAATCGCATCTCCCA 0.532000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 4 72 0.000602214 0.000625831 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 4 152 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605022 140605022 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr5:140605022G>A ENST00000239449.4 + 1 1945 c.1945G>A c.(1945-1947)Gag>Aag p.E649K PCDHB14_ENST00000515856.2_Missense_Mutation_p.E496K NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 649 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.E649K(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACAATGGCGAGCCTCCTCG 0.726000 5 15 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41277541 41277541 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:41277541C>G ENST00000361937.3 - 32 4340 c.3916G>C c.(3916-3918)Gag>Cag p.E1306Q INO80_ENST00000401393.3_Missense_Mutation_p.E1306Q Q9ULG1 INO80_HUMAN INO80 complex subunit 1306 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AATACCTTCTCTGCATACTTT 0.502000 30 35 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539084 61539084 + Missense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:61539084C>A ENST00000278836.5 + 6 949 c.853C>A c.(853-855)Ctg>Atg p.L285M TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.L276M NM_001127392.1 NP_001120864.1 myelin regulatory factor CGTGACAGCCCTGCCTCTGCA 0.642000 9 121 4.36969e-10 5.14652e-10 1 1 0 ADAP2 55803 broad.mit.edu 37 17 29250086 29250086 + Missense_Mutation SNP G G C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr17:29250086G>C ENST00000330889.3 + 2 558 c.223G>C c.(223-225)Gag>Cag p.E75Q ADAP2_ENST00000580525.1_Missense_Mutation_p.E75Q NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 75 Arf-GAP. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CAGTATTGTGGAGGTAGAAAG 0.557000 60 58 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17633031 17633031 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr6:17633031G>A ENST00000262077.2 - 17 2508 c.2509C>T c.(2509-2511)Ctg>Ttg p.L837L NUP153_ENST00000537253.1_Silent_p.L868L NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 837 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CCAGAAGGCAGAGAGACAGGT 0.433000 32 43 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105527552 105527552 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:105527552G>A ENST00000332180.5 + 14 1291 c.1204G>A c.(1204-1206)Gta>Ata p.V402I NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 402 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TGTTAGAGATGTACAGTCTTA 0.353000 38 48 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45244928 45244928 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr22:45244928C>G ENST00000352766.7 + 15 1495 c.1495C>G c.(1495-1497)Ctc>Gtc p.L499V ARHGAP8_ENST00000356099.6_Missense_Mutation_p.L289V|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.L411V|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.L289V|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.L420V|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.L499V|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.L320V breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CGAGCAGATTCTCGGGATCAC 0.642000 74 79 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 50 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89499486 89499486 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:89499486G>A ENST00000336596.2 + 15 2881 c.2656G>A c.(2656-2658)Ggc>Agc p.G886S EPHA3_ENST00000494014.1_Missense_Mutation_p.G886S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 886 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCGGAATCCCGGCAGCCTGAA 0.453000 TSP Lung(6;0.00050) 30 37 0 0 1 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660830 100660830 + Missense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:100660830G>T ENST00000416321.1 - 1 27 c.25C>A c.(25-27)Cgc>Agc p.R9S NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 9 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 ATAAGCTCGCGCGCTGGCTCC 0.642000 14 53 2.48551e-13 2.9939e-13 1 1 0 IQGAP3 128239 broad.mit.edu 37 1 156504506 156504506 + Missense_Mutation SNP T T C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:156504506T>C ENST00000361170.2 - 29 3537 c.3527A>G c.(3526-3528)tAc>tGc p.Y1176C NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1176 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAAGCGGTAGTACAGGAGGTT 0.642000 3 6 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33916037 33916037 + Missense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:33916037G>T ENST00000389232.4 + 20 2457 c.2387G>T c.(2386-2388)gGa>gTa p.G796V RYR3_ENST00000415757.3_Missense_Mutation_p.G796V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 796 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGACGTCATGGAGAGTTTAAG 0.403000 5 46 1.024e-07 1.13067e-07 1 1 0 RYR3 6263 broad.mit.edu 37 15 33916036 33916036 + Nonsense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:33916036G>T ENST00000389232.4 + 20 2456 c.2386G>T c.(2386-2388)Gga>Tga p.G796* RYR3_ENST00000415757.3_Nonsense_Mutation_p.G796* NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 796 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGACGTCATGGAGAGTTTAA 0.403000 4 45 2.56e-06 2.76898e-06 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47426709 47426709 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr14:47426709G>A ENST00000426342.1 - 9 1809 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W MDGA2_ENST00000357362.3_Missense_Mutation_p.R355W|MDGA2_ENST00000399232.2_Missense_Mutation_p.R584W|MDGA2_ENST00000439988.3_Missense_Mutation_p.R653W NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 584 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TGACCCGTCCGTAATAATTTA 0.443000 27 52 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203630259 203630259 + Silent SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:203630259C>A ENST00000303116.6 + 8 1552 c.810C>A c.(808-810)ctC>ctA p.L270L FAM117B_ENST00000392238.2_Silent_p.L514L NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 514 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 CTTTCTGCCTCGTCAGCATCC 0.493000 58 72 1.61742e-36 2.01701e-36 1 1 0 MUC16 94025 broad.mit.edu 37 19 9075647 9075647 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:9075647G>A ENST00000397910.4 - 3 12002 c.11799C>T c.(11797-11799)gcC>gcT p.A3933A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3934 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTCAGAAGGGGCAATTCTCT 0.483000 16 9 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 4 223 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7842975 7842975 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:7842975G>A ENST00000329913.3 - 2 641 c.594C>T c.(592-594)ttC>ttT p.F198F NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 198 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGAATAACCCGAAATTTTTCC 0.473000 22 51 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77268538 77268538 + Missense_Mutation SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chrX:77268538A>G ENST00000341514.6 + 10 2490 c.2335A>G c.(2335-2337)Act>Gct p.T779A ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 779 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GAACCCTATTACTTTCTTTGA 0.408000 78 3 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596351 97596351 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:97596351C>T ENST00000182096.4 + 1 533 c.469C>T c.(469-471)Cct>Tct p.P157S NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TGAGGTTTCACCTGGTCACCA 0.428000 39 38 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415126 105415126 + Missense_Mutation SNP A A T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr14:105415126A>T ENST00000333244.5 - 7 6781 c.6662T>A c.(6661-6663)cTc>cAc p.L2221H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2221 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) GCCCTCCAGGAGTTTCACGTC 0.632000 46 56 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736090 158736090 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:158736090C>T ENST00000335094.2 - 1 402 c.383G>A c.(382-384)cGg>cAg p.R128Q NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GTGGAGGGGCCGGCAGATGGC 0.527000 10 10 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2683370 2683370 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr6:2683370C>T ENST00000274643.7 - 7 914 c.572G>A c.(571-573)cGc>cAc p.R191H MYLK4_ENST00000268446.5_Missense_Mutation_p.R191H NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 191 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) ATCGATGATGCGGTCAAACAG 0.483000 3 25 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131195587 131195587 + Splice_Site SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr7:131195587G>T ENST00000541194.1 - 2 969 c.712C>A c.(712-714)Cta>Ata p.L238I PODXL_ENST00000322985.9_Splice_Site_p.P236T|PODXL_ENST00000378555.3_Splice_Site_p.L236I|PODXL_ENST00000537928.1_Splice_Site_p.P236T NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 236 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) CATTACTTACGTAGGGTGGTG 0.498000 3 41 0.00024832 0.000260613 1 1 0 XIRP2 129446 broad.mit.edu 37 2 167992560 167992560 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:167992560C>T ENST00000409195.1 + 3 639 c.550C>T c.(550-552)Cgc>Tgc p.R184C XIRP2_ENST00000409043.1_Missense_Mutation_p.R184C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R184C|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409756.2_Missense_Mutation_p.R184C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R184C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R184C NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 9 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGGTCACAGCCGCATCTTTGA 0.398000 26 34 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54122193 54122193 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:54122193C>T ENST00000404125.1 - 34 3918 c.3863G>A c.(3862-3864)gGt>gAt p.G1288D PSME4_ENST00000421748.2_Missense_Mutation_p.G432D NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1288 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTCTTCCACACCAGCATAAAC 0.398000 45 48 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221085 44221085 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr6:44221085C>G ENST00000371554.1 + 11 2249 c.2035C>G c.(2035-2037)Cgc>Ggc p.R679G HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R679G|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R679G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 679 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCACTCCAACCGCATCTATCG 0.483000 159 209 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849287 94849287 + Silent SNP A A C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr14:94849287A>C ENST00000448921.1 - 4 860 c.288T>G c.(286-288)acT>acG p.T96T SERPINA1_ENST00000355814.4_Silent_p.T96T|SERPINA1_ENST00000440909.1_Silent_p.T96T|SERPINA1_ENST00000437397.1_Silent_p.T96T|SERPINA1_ENST00000404814.4_Silent_p.T96T|SERPINA1_ENST00000393087.4_Silent_p.T96T|SERPINA1_ENST00000449399.3_Silent_p.T96T|SERPINA1_ENST00000393088.4_Silent_p.T96T|SERPINA1_ENST00000402629.1_Silent_p.T96T NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 96 T -> A (in Ref. 7; ABG73380). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TTTCATCGTGAGTGTCAGCCT 0.557000 32 29 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420214 49420214 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:49420214G>A ENST00000301067.7 - 48 15534 c.15535C>T c.(15535-15537)Cgt>Tgt p.R5179C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCCCACACGGAACATGTGC 0.592000 13 10 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89614466 89614466 + Silent SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr16:89614466A>G ENST00000268704.2 + 12 1623 c.1608A>G c.(1606-1608)ggA>ggG p.G536G NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 536 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CGCGGGAGGGACACACTTCCG 0.637000 57 73 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10555750 10555750 + Missense_Mutation SNP G G C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr17:10555750G>C ENST00000583535.1 - 4 422 c.335C>G c.(334-336)tCt>tGt p.S112C MYH3_ENST00000226209.7_Missense_Mutation_p.S112C NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 112 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GATCATCCAAGATGTGTAACG 0.577000 31 31 0 0 1 0 0 BANF1 8815 broad.mit.edu 37 11 65771121 65771121 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:65771121C>G ENST00000312175.2 + 3 656 c.148C>G c.(148-150)Ctg>Gtg p.L50V BANF1_ENST00000445560.2_Missense_Mutation_p.L50V|BANF1_ENST00000524628.1_3'UTR|BANF1_ENST00000533166.1_Missense_Mutation_p.L50V|BANF1_ENST00000527348.1_Missense_Mutation_p.L50V NM_001143985.1|NM_003860.3 NP_001137457.1|NP_003851.1 O75531 BAF_HUMAN barrier to autointegration factor 1 50 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 TGGCCAGTTTCTGGTGCTAAA 0.532000 35 38 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66308670 66308670 + Nonsense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:66308670G>A ENST00000536545.1 + 4 1231 c.420G>A c.(418-420)tgG>tgA p.W140* HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000354636.3_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000393577.3_Intron P52926 HMGA2_HUMAN high mobility group AT-hook 2 0 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) ggccaggctggtctcgaactc 0.507000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 7 6 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75941918 75941918 + Silent SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:75941918C>A ENST00000308527.5 + 1 1672 c.475C>A c.(475-477)Cgg>Agg p.R159R NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 159 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 CATGGCCTTCCGGCCCAAGCC 0.652000 3 34 0.115264 0.115264 1 1 0 AMDHD1 144193 broad.mit.edu 37 12 96360195 96360195 + Missense_Mutation SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:96360195A>G ENST00000266736.2 + 8 1208 c.1102A>G c.(1102-1104)Atc>Gtc p.I368V NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 368 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CGCTGCCACCATCAATGCAGC 0.498000 63 71 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733103 56733103 + Missense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:56733103G>T ENST00000587340.1 - 7 2027 c.1332C>A c.(1330-1332)gaC>gaA p.D444E ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.D327E|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.D444E|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.D443E|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.D298E Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 444 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTTTCTTGCAGTCTTTACATT 0.517000 12 24 2.27111e-07 2.48183e-07 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77807357 77807357 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr13:77807357C>G ENST00000407578.2 - 18 2937 c.2671G>C c.(2671-2673)Gaa>Caa p.E891Q MYCBP2_ENST00000357337.6_Missense_Mutation_p.E853Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E853Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGAGCCTGTTCTCGATGGTTC 0.423000 62 65 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50789753 50789753 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:50789753G>A ENST00000440075.2 + 34 4601 c.4554G>A c.(4552-4554)gaG>gaA p.E1518E MYH14_ENST00000596571.1_Silent_p.E1477E|MYH14_ENST00000262269.8_Silent_p.E1518E|MYH14_ENST00000425460.1_Silent_p.E1485E|MYH14_ENST00000601313.1_Silent_p.E1518E|MYH14_ENST00000598205.1_Silent_p.E1485E|MYH14_ENST00000376970.2_Silent_p.E1510E Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1477 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TGGCAGAGGAGAAGGCAGCTG 0.612000 4 9 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113085026 113085026 + Nonsense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:113085026C>A ENST00000393845.2 - 19 2641 c.2575G>T c.(2575-2577)Gga>Tga p.G859* WDR52_ENST00000295868.2_Nonsense_Mutation_p.G859* NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 859 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TTAATACATCCATAATTATTG 0.343000 16 62 9.16793e-09 1.0563e-08 1 1 0 AEN 64782 broad.mit.edu 37 15 89172609 89172609 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:89172609G>A ENST00000332810.3 + 3 844 c.693G>A c.(691-693)cgG>cgA p.R231R AEN_ENST00000379231.3_Silent_p.R231R NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 231 Exonuclease. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 CCCGGGCCCGGGTCTCTCTAA 0.647000 29 29 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11018764 11018764 + Silent SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:11018764G>T ENST00000327064.4 + 3 586 c.396G>T c.(394-396)ctG>ctT p.L132L CARM1_ENST00000344150.4_Silent_p.L132L NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 132 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GCCACACCCTGGAGCGGTCTG 0.627000 14 74 6.31663e-08 7.123e-08 1 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 45 0.004672 0.00480808 1 1 0 HIVEP1 3096 broad.mit.edu 37 6 12124951 12124951 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr6:12124951G>A ENST00000379388.2 + 4 5255 c.4923G>A c.(4921-4923)caG>caA p.Q1641Q NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1641 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TACGCCTGCAGAGTAGTGTTC 0.498000 53 69 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 4 94 0 0 1 0 0 GPCPD1 56261 broad.mit.edu 37 20 5528321 5528321 + Missense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr20:5528321C>A ENST00000379019.4 - 20 2217 c.2005G>T c.(2005-2007)Gtg>Ttg p.V669L GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 669 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 GCATTCTCCACGTTATCAATG 0.463000 9 97 1.12685e-05 1.19446e-05 1 1 0 GAR1 54433 broad.mit.edu 37 4 110737358 110737358 + Missense_Mutation SNP G G C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr4:110737358G>C ENST00000226796.6 + 2 302 c.38G>C c.(37-39)cGa>cCa p.R13P GAR1_ENST00000394631.3_Missense_Mutation_p.R13P NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 13 RGG-box 1. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 GGCTTTAATCGAggtggtgga 0.577000 27 32 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127624923 127624923 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr5:127624923C>T ENST00000508053.1 - 58 7507 c.6533G>A c.(6532-6534)aGc>aAc p.S2178N FBN2_ENST00000262464.4_Missense_Mutation_p.S2178N P35556 FBN2_HUMAN fibrillin 2 2178 EGF-like 36; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATGCCTGGGCTCTCAAGACA 0.433000 41 68 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6215671 6215671 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:6215671C>T ENST00000262450.3 - 4 593 c.494G>A c.(493-495)aGc>aAc p.S165N CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 165 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GAGGAACTGGCTGAAGGCCTT 0.637000 15 25 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 3 27 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11078469 11078469 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr7:11078469G>A ENST00000403050.3 + 11 2515 c.2063G>A c.(2062-2064)aGa>aAa p.R688K PHF14_ENST00000445996.2_Missense_Mutation_p.R403K NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 688 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TTACTAGGCAGAATCACAGGG 0.373000 10 13 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:142713774A>G ENST00000610091.1 - 0 1884 CTTTTTCCACATTGTCATTTT 0.284000 4 43 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718571 80718571 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr16:80718571G>A ENST00000570137.2 - 2 635 c.480C>T c.(478-480)gaC>gaT p.D160D CDYL2_ENST00000566173.1_Silent_p.D160D|CDYL2_ENST00000562812.1_Silent_p.D160D|CDYL2_ENST00000563890.1_Silent_p.D160D|CDYL2_ENST00000562753.1_5'UTR NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CAGAGCCGGCGTCCCCATTTT 0.512000 43 51 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121437719 121437719 + Nonsense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:121437719C>A ENST00000260197.7 + 22 3249 c.3120C>A c.(3118-3120)tgC>tgA p.C1040* SORL1_ENST00000525532.1_5'UTR NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1040 EGF-like. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTAGAAGCTGCAGGTGTCCAG 0.562000 3 28 0.115264 0.115264 1 1 0 WDR52 55779 broad.mit.edu 37 3 113085025 113085025 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:113085025C>T ENST00000393845.2 - 19 2642 c.2576G>A c.(2575-2577)gGa>gAa p.G859E WDR52_ENST00000295868.2_Missense_Mutation_p.G859E NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 859 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TTTAATACATCCATAATTATT 0.343000 16 65 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63862666 63862666 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr15:63862666C>T ENST00000268049.7 + 10 1054 c.730C>T c.(730-732)Cgc>Tgc p.R244C USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.R249C|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.R266C|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.R177C|USP3_ENST00000539772.1_Missense_Mutation_p.R17C|USP3_ENST00000540797.1_Missense_Mutation_p.R222C|USP3-AS1_ENST00000560350.1_RNA Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 266 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) TGAATTCATGCGCTACCTTTT 0.512000 22 31 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26043218 26043218 + Silent SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr13:26043218C>T ENST00000381655.2 + 2 322 c.180C>T c.(178-180)ctC>ctT p.L60L ATP8A2_ENST00000255283.8_Silent_p.L20L NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 20 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCATTTACCTCAACCAACCGC 0.597000 12 18 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135201796 135201796 + Nonsense_Mutation SNP G G C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr9:135201796G>C ENST00000372169.2 - 10 5371 c.5189C>G c.(5188-5190)tCa>tGa p.S1730* SETX_ENST00000393220.1_Nonsense_Mutation_p.S1730*|SETX_ENST00000224140.5_Nonsense_Mutation_p.S1730* Q7Z333 SETX_HUMAN senataxin 1730 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CACAGGTCTTGAGATGGACTG 0.368000 28 3 0 0 1 0 0 TOR3A 64222 broad.mit.edu 37 1 179054987 179054987 + Missense_Mutation SNP A A C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:179054987A>C ENST00000367627.3 + 3 1350 c.598A>C c.(598-600)Acg>Ccg p.T200P TOR3A_ENST00000352445.6_Missense_Mutation_p.T200P|TOR3A_ENST00000495145.1_3'UTR NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 200 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 GTTCATCGCCACGTTCCACTT 0.597000 16 17 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121176691 121176691 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:121176691G>A ENST00000242592.4 + 8 1153 c.1002G>A c.(1000-1002)ctG>ctA p.L334L ACADS_ENST00000411593.2_Silent_p.L330L NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 334 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CTGCCATGCTGAAGGATAACA 0.642000 22 38 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54675749 54675749 + Missense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:54675749C>A ENST00000376591.4 - 2 332 c.201G>T c.(199-201)gaG>gaT p.E67D TMC4_ENST00000301187.4_Missense_Mutation_p.E61D NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTCCTCCATCCTCCTCCTCCT 0.642000 4 56 0.00909568 0.0092706 1 1 0 ALG10B 144245 broad.mit.edu 37 12 38714753 38714753 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:38714753C>T ENST00000308742.4 + 3 1476 c.1160C>T c.(1159-1161)tCa>tTa p.S387L ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 387 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) ATAGCTGACTCATTGAAATCA 0.303000 41 52 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102079462 102079462 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr7:102079462G>A ENST00000356387.2 + 3 294 c.59G>A c.(58-60)gGc>gAc p.G20D ORAI2_ENST00000473939.1_Missense_Mutation_p.G20D|ORAI2_ENST00000403646.3_Missense_Mutation_p.G20D|ORAI2_ENST00000478730.2_Missense_Mutation_p.G20D|ORAI2_ENST00000488996.1_Intron NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 20 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCTGAGCCCGGCCATAAGGGC 0.622000 4 110 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110581 175110581 + Silent SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr5:175110581C>T ENST00000231683.2 + 1 2118 c.345C>T c.(343-345)gaC>gaT p.D115D HRH2_ENST00000377291.2_Silent_p.D115D NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 115 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TCAGCCTCGACCGGTACTGCG 0.542000 3 37 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109088531 109088531 + Missense_Mutation SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:109088531A>G ENST00000309863.6 + 6 3460 c.2746A>G c.(2746-2748)Aaa>Gaa p.K916E NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 916 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTAGAACAAAAAGAATTACG 0.284000 21 38 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068146 189068146 + Missense_Mutation SNP T T C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr4:189068146T>C ENST00000332517.3 + 6 1167 c.1027T>C c.(1027-1029)Tgg>Cgg p.W343R TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 343 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAGACACTACTGGGAGGTGGA 0.562000 26 24 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40085528 40085528 + Nonsense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr7:40085528C>A ENST00000181839.4 + 6 3052 c.2447C>A c.(2446-2448)tCa>tAa p.S816* CDK13_ENST00000340829.5_Nonsense_Mutation_p.S816*|CDK13_ENST00000484589.1_3'UTR NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 816 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CACATAAAGTCATTTATGAGA 0.333000 53 82 2.47907e-22 3.02047e-22 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_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 3 53 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179659906 179659906 + Missense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:179659906G>A ENST00000444136.1 + 18 3186 c.2936G>A c.(2935-2937)cGt>cAt p.R979H TDRD5_ENST00000294848.8_Missense_Mutation_p.R925H|TDRD5_ENST00000367614.1_Missense_Mutation_p.R925H NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 925 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.R925H(2) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AAAGACAAGCGTCAAGAATCT 0.418000 24 29 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 4 7 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105460399 105460399 + Nonsense_Mutation SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:105460399G>A ENST00000258494.9 - 5 783 c.643C>T c.(643-645)Cag>Tag p.Q215* ALDH1L2_ENST00000424857.2_Nonsense_Mutation_p.Q215* NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 215 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TCTTCTGGCTGGGGTATACGA 0.443000 18 20 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50822731 50822731 + Silent SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:50822731C>G ENST00000398473.2 + 3 292 c.180C>G c.(178-180)ctC>ctG p.L60L LARP4_ENST00000347328.5_Silent_p.L60L|LARP4_ENST00000293618.8_Silent_p.L60L|LARP4_ENST00000522085.1_Silent_p.L60L|LARP4_ENST00000518561.1_5'UTR|LARP4_ENST00000518444.1_Silent_p.L59L|LARP4_ENST00000429001.3_Silent_p.L66L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 60 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ATGCAGAGCTCTCAGAAGATA 0.333000 20 23 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3735128 3735128 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:3735128C>T ENST00000324932.7 - 19 2917 c.2497G>A c.(2497-2499)Gga>Aga p.G833R NUP98_ENST00000397007.4_Missense_Mutation_p.G850R|NUP98_ENST00000397004.4_Missense_Mutation_p.G833R|NUP98_ENST00000355260.3_Missense_Mutation_p.G833R|NUP98_ENST00000359171.4_Missense_Mutation_p.G833R NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 850 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TCCAATCTTCCTTCATAGTTG 0.418000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 20 33 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123426754 123426754 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:123426754C>T ENST00000360772.3 - 17 2615 c.2237G>A c.(2236-2238)gGt>gAt p.G746D MYLK_ENST00000475616.1_Missense_Mutation_p.G746D|MYLK_ENST00000359169.1_Missense_Mutation_p.G746D|MYLK_ENST00000360304.3_Missense_Mutation_p.G746D|MYLK_ENST00000346322.5_Missense_Mutation_p.G677D Q15746 MYLK_HUMAN myosin light chain kinase 746 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AAAGGGGTCACCAGCTATGGC 0.592000 13 18 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11018765 11018765 + Nonsense_Mutation SNP G G T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:11018765G>T ENST00000327064.4 + 3 587 c.397G>T c.(397-399)Gag>Tag p.E133* CARM1_ENST00000344150.4_Nonsense_Mutation_p.E133* NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 133 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CCACACCCTGGAGCGGTCTGT 0.627000 14 73 6.31663e-08 7.123e-08 1 1 0 AMER1 139285 broad.mit.edu 37 X 63410941 63410941 + Silent SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chrX:63410941C>T ENST00000330258.3 - 2 2498 c.2226G>A c.(2224-2226)agG>agA p.R742R AMER1_ENST00000403336.1_Silent_p.R742R|AMER1_ENST00000374869.3_Silent_p.R742R NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGTAGGCCCTCCTGGGAGATC 0.507000 25 0 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099308 133099308 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr3:133099308G>A ENST00000515826.1 + 3 876 c.753G>A c.(751-753)caG>caA p.Q251Q TMEM108_ENST00000321871.6_Silent_p.Q251Q|TMEM108_ENST00000393130.3_Silent_p.Q251Q|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 251 integral to membrane p.Q251H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CACAGCCCCAGACAGTGGCTG 0.632000 12 13 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117265193 117265193 + Missense_Mutation SNP G G T rs147802563 TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:117265193G>T ENST00000278935.3 + 21 2891 c.2744G>T c.(2743-2745)cGc>cTc p.R915L CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 915 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GACTTGCGGCGCCGGCACAGG 0.662000 8 10 5.4927e-09 6.39809e-09 1 1 0 KCNK10 54207 broad.mit.edu 37 14 88658717 88658717 + Nonsense_Mutation SNP G G C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr14:88658717G>C ENST00000340700.5 - 5 1155 c.704C>G c.(703-705)tCa>tGa p.S235* KCNK10_ENST00000312350.5_Nonsense_Mutation_p.S240*|KCNK10_ENST00000319231.5_Nonsense_Mutation_p.S240* NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 235 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CAGGATGGTTGAGATGACCCG 0.493000 42 46 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680000 44680000 + Silent SNP A A G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:44680000A>G ENST00000590089.1 + 7 952 c.585A>G c.(583-585)aaA>aaG p.K195K ZNF226_ENST00000337433.5_Silent_p.K195K|ZNF226_ENST00000454662.2_Silent_p.K195K|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 195 K -> E (in Ref. 1; AAF34786). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TAAAAAATAAATTATGTCAAT 0.368000 17 33 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 131 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539083 61539083 + Silent SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr11:61539083C>A ENST00000278836.5 + 6 948 c.852C>A c.(850-852)gcC>gcA p.A284A TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.A275A NM_001127392.1 NP_001120864.1 myelin regulatory factor CCGTGACAGCCCTGCCTCTGC 0.642000 10 118 2.61681e-11 3.11666e-11 1 1 0 RXFP4 339403 broad.mit.edu 37 1 155912245 155912245 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:155912245C>T ENST00000368318.3 + 1 766 c.745C>T c.(745-747)Cgc>Tgc p.R249C NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 249 integral to membrane|plasma membrane angiotensin type II receptor activity endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCGCTCTGTCCGCATCCTGGT 0.637000 20 24 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145007406 145007406 + Silent SNP G G A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr8:145007406G>A ENST00000322810.4 - 13 1957 c.1788C>T c.(1786-1788)ctC>ctT p.L596L PLEC_ENST00000345136.3_Silent_p.L459L|PLEC_ENST00000436759.2_Silent_p.L486L|PLEC_ENST00000398774.2_Silent_p.L427L|PLEC_ENST00000527096.1_Silent_p.L482L|PLEC_ENST00000354589.3_Silent_p.L459L|PLEC_ENST00000356346.3_Silent_p.L445L|PLEC_ENST00000357649.2_Silent_p.L463L|PLEC_ENST00000354958.2_Silent_p.L437L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 596 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCCATCCTTGAGGGTCTGCA 0.672000 10 17 0 0 1 0 0 IFNG 3458 broad.mit.edu 37 12 68551986 68551986 + Missense_Mutation SNP C C G TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr12:68551986C>G ENST00000229135.3 - 2 299 c.168G>C c.(166-168)ttG>ttC p.L56F IFNG-AS1_ENST00000536914.1_RNA NM_000619.2 NP_000610.2 P01579 IFNG_HUMAN interferon, gamma 56 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) TCCAATTCTTCAAAATGCCTA 0.333000 7 16 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97278257 97278267 + Splice_Site DEL TCTTTTTATAG TCTTTTTATAG - TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr1:97278257_97278267delTCTTTTTATAG ENST00000609116.1 + 12 1253 c.e12-1 PTBP2_ENST00000370197.1_Splice_Site|PTBP2_ENST00000426398.2_Splice_Site|PTBP2_ENST00000370198.1_Splice_Site|PTBP2_ENST00000394184.3_Splice_Site|PTBP2_ENST00000541987.1_Splice_Site|PTBP2_ENST00000482253.1_Splice_Site Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGACATGCTTTCTTTTTATAGCCATGAATCA 0.284 9 25 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100623295 100623295 + Frame_Shift_Del DEL G G - TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr2:100623295delG ENST00000409236.2 - 5 784 c.672delC c.(670-672)cccfs p.P224fs AFF3_ENST00000409579.1_Frame_Shift_Del_p.P249fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.P249fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.P224fs P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.P249L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGACCAGGCTGGGTTTTGAAG 0.582 18 34 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8399533 8399534 + Frame_Shift_Ins INS - - C TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:8399533_8399534insC ENST00000330915.3 - 3 1242_1243 c.1177_1178insG c.(1177-1179)gccfs p.A393fs KANK3_ENST00000593649.1_Frame_Shift_Ins_p.A393fs NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 393 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CTGGGCCCGGGCCCCCGCCGCT 0.738 3 3 --- --- --- --- ATP13A1 57130 broad.mit.edu 37 19 19764796 19764796 + Frame_Shift_Del DEL G G - TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr19:19764796delG ENST00000357324.6 - 14 1997 c.1971delC c.(1969-1971)cccfs p.P657fs ATP13A1_ENST00000291503.5_Frame_Shift_Del_p.P539fs|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 657 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GCAGAGTTTCGGGGGCCCCCT 0.647 2 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142441 21142442 + RNA INS - - A rs71715453 TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chr20:21142441_21142442insA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TTCATTTCTGGAAAAAAAAAAA 0.366 3 4 --- --- --- --- SMARCA1 6594 broad.mit.edu 37 X 128582370 128582371 + Frame_Shift_Ins INS - - T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef419c48-bfec-4d63-89c7-2dc629df220c dd5b8ff3-b2ea-474e-a548-2aa477011cb1 g.chrX:128582370_128582371insT ENST00000371122.4 - 24 3209_3210 c.3080_3081insA c.(3079-3081)aatfs p.N1027fs SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.N1015fs|SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.N1015fs NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 1027 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CAATTTCCATATTTTCTTTCTC 0.332 38 4 --- --- --- ---