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 PRRC2A 7916 broad.mit.edu 37 6 31604566 31604566 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:31604566G>A ENST00000376033.2 + 28 6225 c.5991G>A c.(5989-5991)ccG>ccA p.P1997P PRRC2A_ENST00000376007.4_Silent_p.P1997P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1997 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTCCCTGCCGCCAGCACCAC 0.612000 8 282 0 0 0.006214 0 0 IL6R 3570 broad.mit.edu 37 1 154407116 154407116 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:154407116G>A ENST00000368485.3 + 4 1017 c.580G>A c.(580-582)Gtc>Atc p.V194I IL6R_ENST00000344086.4_Missense_Mutation_p.V194I NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 194 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity p.V194I(1) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTCCATGTGCGTCGCCAGTAG 0.532000 6 159 0 0 0.001168 0 0 CA8 767 broad.mit.edu 37 8 61135309 61135309 + Missense_Mutation SNP G G A rs145210688 by1000genomes TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr8:61135309G>A ENST00000317995.4 - 7 901 c.637C>T c.(637-639)Cgg>Tgg p.R213W CA8_ENST00000528666.1_5'UTR NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 213 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CAGTAATCCCGCAGCAGAGGG 0.438000 15 77 0 0 0.003163 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540672 40540672 + Silent SNP T T A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr19:40540672T>A ENST00000434248.1 - 5 2159 c.2094A>T c.(2092-2094)gtA>gtT p.V698V ZNF780B_ENST00000221355.6_Silent_p.V550V NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACTCCTTACATACAAAGGGTT 0.388000 10 137 0 0 0.006214 0 0 DEPDC5 9681 broad.mit.edu 37 22 32289633 32289633 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr22:32289633C>G ENST00000400246.1 + 39 4241 c.4099C>G c.(4099-4101)Ctg>Gtg p.L1367V DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1267V|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L184V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1358V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1336V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1367V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1345V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.L1336V|DEPDC5_ENST00000382105.2_3'UTR O75140 DEPD5_HUMAN DEP domain containing 5 1336 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CACAGACCGGCTGGAGTGGTG 0.557000 5 59 0 0 0.000602 0 0 FAM214B 80256 broad.mit.edu 37 9 35107547 35107547 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr9:35107547C>T ENST00000378561.1 - 2 3780 c.725G>A c.(724-726)cGa>cAa p.R242Q FAM214B_ENST00000322813.5_Missense_Mutation_p.R242Q|FAM214B_ENST00000488109.2_Missense_Mutation_p.R242Q|FAM214B_ENST00000378557.1_Missense_Mutation_p.R242Q|FAM214B_ENST00000603301.1_Missense_Mutation_p.R242Q|FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000378554.2_Missense_Mutation_p.R242Q|FAM214B_ENST00000605244.1_Missense_Mutation_p.R242Q Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 242 nucleus AAGCAGCCTTCGCTTGGTGGG 0.697000 5 139 0 0 0.001168 0 0 F9 2158 broad.mit.edu 37 X 138643694 138643694 + Missense_Mutation SNP A A T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:138643694A>T ENST00000218099.2 + 8 857 c.850A>T c.(850-852)Att>Ttt p.I284F F9_ENST00000394090.2_Missense_Mutation_p.I246F NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 284 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAACATAATATTGAGGAGAC 0.333000 13 90 0 0 0.013537 0 0 HAUS7 55559 broad.mit.edu 37 X 152730472 152730472 + Missense_Mutation SNP C C A rs141087618 TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:152730472C>A ENST00000370219.3 - 3 853 c.296G>T c.(295-297)gGg>gTg p.G99V HAUS7_ENST00000421080.2_Intron|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.G89V|HAUS7_ENST00000370211.4_Missense_Mutation_p.G89V|HAUS7_ENST00000370212.3_Missense_Mutation_p.G99V NM_017518.6 NP_059988.3 Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 99 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 TGTTGGGACCCCTTTCAGTGA 0.577000 17 359 1.56452e-12 5.72549e-12 0.007413 1 0 GAK 2580 broad.mit.edu 37 4 861163 861163 + Missense_Mutation SNP G G C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:861163G>C ENST00000314167.4 - 21 2563 c.2453C>G c.(2452-2454)gCc>gGc p.A818G GAK_ENST00000511163.1_Missense_Mutation_p.A739G|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 818 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CTCCATCAGGGCAGACTCGCT 0.597000 5 128 0 0 0.001168 0 0 DOK1 1796 broad.mit.edu 37 2 74783609 74783609 + Missense_Mutation SNP G G C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr2:74783609G>C ENST00000233668.5 + 5 1483 c.814G>C c.(814-816)Ggg>Cgg p.G272R DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G133R NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 272 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CTCCCATGAAGGGGAGGTGGC 0.612000 4 91 0 0 0.009096 0 0 TRPM1 4308 broad.mit.edu 37 15 31362283 31362283 + Missense_Mutation SNP G G T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr15:31362283G>T ENST00000542188.1 - 3 594 c.281C>A c.(280-282)tCc>tAc p.S94Y TRPM1_ENST00000256552.6_Missense_Mutation_p.S77Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.S55Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.S55Y NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 55 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AACTCCATAGGAATCTGTTGG 0.483000 12 557 2.27111e-07 7.97206e-07 0.013537 1 0 SUN1 23353 broad.mit.edu 37 7 891656 891656 + Nonsense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:891656G>A ENST00000456758.2 + 13 1394 c.1394G>A c.(1393-1395)tGg>tAg p.W465* SUN1_ENST00000452783.2_Nonsense_Mutation_p.W174*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W276*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W85*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.W193*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W193*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.W313* O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 303 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGATTTCTTGGCTGAATGTG 0.433000 4 111 0 0 0.001168 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:244217659C>T ENST00000358704.4 + 2 732 c.583C>T c.(583-585)Cga>Tga p.R195* NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 p.R186*(2) CATGTGGATGCGATTGCCCTC 0.572000 7 74 0 0 0.001984 0 0 GPR6 2830 broad.mit.edu 37 6 110300574 110300574 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:110300574G>A ENST00000414000.2 + 3 543 c.304G>A c.(304-306)Gct>Act p.A102T GPR6_ENST00000275169.3_Missense_Mutation_p.A87T P46095 GPR6_HUMAN G protein-coupled receptor 6 87 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GACAGTGATCGCTGGAGAAAA 0.672000 7 157 0 0 0.001984 0 0 SOX2 6657 broad.mit.edu 37 3 181430843 181430843 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr3:181430843C>T ENST00000325404.1 + 1 1122 c.695C>T c.(694-696)aCc>aTc p.T232I SOX2_ENST00000431565.2_Missense_Mutation_p.T232I NM_003106.3 NP_003097.1 P48431 SOX2_HUMAN SRY (sex determining region Y)-box 2 232 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 10 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) CAGCAGGGCACCCCTGGCATG 0.642000 A """NSCLC, oesophageal squamous carcinoma""" MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 7 71 0 0 0.001984 0 0 MAFK 7975 broad.mit.edu 37 7 1579888 1579888 + Silent SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:1579888C>T ENST00000343242.4 + 3 577 c.348C>T c.(346-348)acC>acT p.T116T NM_002360.3 NP_002351.1 O60675 MAFK_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K 116 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) CGCTGCAGACCTTCGCGCGCA 0.682000 5 29 0 0 0.000602 0 0 PELI3 246330 broad.mit.edu 37 11 66238754 66238754 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:66238754G>A ENST00000349459.6 + 3 478 c.194G>A c.(193-195)cGa>cAa p.R65Q PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Missense_Mutation_p.R89Q NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 89 cytosol protein binding p.R89Q(1) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 GGCCGCCGGCGAAGCCGCCTG 0.597000 6 184 0 0 0.001984 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 5 64 0 0 0.001168 0 0 CCDC80 151887 broad.mit.edu 37 3 112324348 112324348 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr3:112324348G>A ENST00000206423.3 - 8 3722 c.2769C>T c.(2767-2769)taC>taT p.Y923Y CCDC80_ENST00000439685.2_Silent_p.Y923Y NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 923 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGTAACTATGGTAACCATAGC 0.463000 4 83 0 0 0.009096 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42854281 42854281 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:42854281G>A ENST00000455697.1 - 8 2111 c.1826C>T c.(1825-1827)cCt>cTt p.P609L PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P609L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P609L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P609L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P609L NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 609 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CTTCTCTTCAGGCAGGATTTT 0.463000 5 111 0 0 0.000602 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056369 26056369 + Silent SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:26056369C>G ENST00000343677.2 - 1 330 c.288G>C c.(286-288)acG>acC p.T96T NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 96 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 CGGTGCCTTTCGTTTGCACCA 0.532000 6 178 0 0 0.001984 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846140 18846140 + RNA SNP T T C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr22:18846140T>C ENST00000412938.1 + 0 3498 TAGGGCACCTTGGACCTCTCT 0.617000 3 20 0 0 0.000602 0 0 TIAM1 7074 broad.mit.edu 37 21 32502548 32502548 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr21:32502548C>G ENST00000286827.3 - 26 4499 c.4028G>C c.(4027-4029)cGa>cCa p.R1343P TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283P NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1343 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.R1343L(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGCCAAAGCTCGAACCTGCAG 0.483000 3 214 0 0 0.004672 0 0 OR4A16 81327 broad.mit.edu 37 11 55111250 55111250 + Missense_Mutation SNP T T A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:55111250T>A ENST00000314721.2 + 1 624 c.574T>A c.(574-576)Ttt>Att p.F192I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TGACACCTACTTTATAGGACT 0.423000 7 145 0 0 0.001984 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 3 37 0 0 0.004672 0 0 AWAT1 158833 broad.mit.edu 37 X 69455618 69455618 + Silent SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chrX:69455618G>A ENST00000374521.3 + 2 170 c.129G>A c.(127-129)ccG>ccA p.P43P AWAT1_ENST00000480702.1_3'UTR NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 43 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CCTTGTGGCCGCTACCAGTGC 0.488000 6 243 0 0 0.001168 0 0 LRIG2 9860 broad.mit.edu 37 1 113616160 113616160 + Silent SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:113616160C>G ENST00000361127.4 + 1 330 c.132C>G c.(130-132)ccC>ccG p.P44P NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 44 LRRNT. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GTCTCTGCCCCGCGCCCTGCT 0.657000 OREG0013684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 206 0 0 0.001984 0 0 CAMK2D 817 broad.mit.edu 37 4 114680566 114680566 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:114680566C>T ENST00000454265.2 - 2 928 c.70G>A c.(70-72)Gca>Aca p.A24T CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A24T Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 24 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ACTGAGAATGCCCCCCTGGAA 0.323000 4 87 0 0 0.009096 0 0 ASCL3 56676 broad.mit.edu 37 11 8959494 8959494 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:8959494C>T ENST00000325884.1 - 2 274 c.215G>A c.(214-216)tGc>tAc p.C72Y ASCL3_ENST00000531618.1_Missense_Mutation_p.C72Y NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 71 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGAGAAGGGGCAGGGTTCACT 0.577000 6 77 0 0 0.001168 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 43 0 0 0.009096 0 0 ESPNP 284729 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 5 20 0 0 0.001168 0 0 ASIC1 41 broad.mit.edu 37 12 50472360 50472360 + Splice_Site SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:50472360G>A ENST00000228468.4 + 6 1379 c.994_splice c.e6+1 p.G332_splice ASIC1_ENST00000552438.1_Splice_Site_p.G366_splice|ASIC1_ENST00000447966.2_Splice_Site_p.G332_splice NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 332 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCACATGCCAGGTCAGGCCTG 0.592000 4 131 0 0 0.009096 0 0 TIGD3 220359 broad.mit.edu 37 11 65124576 65124576 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:65124576G>A ENST00000309880.5 + 2 1504 c.1297G>A c.(1297-1299)Gat>Aat p.D433N NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 433 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CACCAAAGCTGATGCCCTCCG 0.562000 12 109 0 0 0.010729 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564921 46564921 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:46564921C>T ENST00000458649.2 - 7 1064 c.646G>A c.(646-648)Gat>Aat p.D216N AMBRA1_ENST00000426438.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D216N|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D216N|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D216N Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 216 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TCTGTTCCATCTATGGGGATC 0.542000 16 98 0 0 0.004007 0 0 ATN1 1822 broad.mit.edu 37 12 7044927 7044927 + Missense_Mutation SNP C C G TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr12:7044927C>G ENST00000356654.4 + 5 734 c.497C>G c.(496-498)cCt>cGt p.P166R ATN1_ENST00000396684.2_Missense_Mutation_p.P166R NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 166 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCACTCTTTCCTCCTTCCCCT 0.592000 4 149 0 0 0.009096 0 0 DCAF6 55827 broad.mit.edu 37 1 167906205 167906205 + Missense_Mutation SNP T T C TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr1:167906205T>C ENST00000367840.3 + 1 150 c.56T>C c.(55-57)cTc>cCc p.L19P DCAF6_ENST00000470919.1_Intron|DCAF6_ENST00000367843.3_Missense_Mutation_p.L19P|DCAF6_ENST00000312263.6_Missense_Mutation_p.L19P|MPC2_ENST00000271373.4_5'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.L19P NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 19 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AAAAGGTCCCTCGGGCTGGAG 0.721000 3 23 0 0 0.004672 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147970 123147970 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr4:123147970C>T ENST00000264501.4 + 24 3275 c.2902C>T c.(2902-2904)Cgt>Tgt p.R968C KIAA1109_ENST00000455637.1_Missense_Mutation_p.R968C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R968C|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 968 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGGAATTGATCGTCGGTTCTG 0.338000 5 74 0 0 0.000602 0 0 LPA 4018 broad.mit.edu 37 6 160952810 160952810 + Missense_Mutation SNP C C A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr6:160952810C>A ENST00000447678.1 - 40 6194 c.6074G>T c.(6073-6075)cGt>cTt p.R2025L LPA_ENST00000316300.5_Missense_Mutation_p.R2025L|LPA_ENST00000484276.1_Intron NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4533 Kringle 18. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCTTGAAACACGAGCATAGAC 0.458000 6 82 4.096e-09 1.46773e-08 0.001168 1 0 FJX1 24147 broad.mit.edu 37 11 35640755 35640755 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr11:35640755G>A ENST00000317811.4 + 1 1021 c.571G>A c.(571-573)Gag>Aag p.E191K NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 191 extracellular space p.E191K(2) lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GATTCAGGGCGAGGCCCTGTC 0.731000 7 25 0 0 0.003080 0 0 SGCE 8910 broad.mit.edu 37 7 94230126 94230126 + Missense_Mutation SNP C C T TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr7:94230126C>T ENST00000415788.2 - 8 1064 c.977G>A c.(976-978)cGt>cAt p.R326H SGCE_ENST00000265735.7_Missense_Mutation_p.R290H|SGCE_ENST00000437425.2_Missense_Mutation_p.R249H|SGCE_ENST00000447873.1_Missense_Mutation_p.R290H|SGCE_ENST00000428696.2_Missense_Mutation_p.R290H|SGCE_ENST00000445866.2_Missense_Mutation_p.R290H O43556 SGCE_HUMAN sarcoglycan, epsilon 290 Cys-rich. cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCCCTCTCCACGAATCACTTC 0.378000 9 39 0 0 0.008291 0 0 SDCBP 6386 broad.mit.edu 37 8 59492228 59492228 + Missense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr8:59492228G>A ENST00000523483.1 + 8 2199 c.685G>A c.(685-687)Gtt>Att p.V229I SDCBP_ENST00000422546.2_Missense_Mutation_p.V208I|SDCBP_ENST00000447182.2_Missense_Mutation_p.V208I|SDCBP_ENST00000260130.4_Missense_Mutation_p.V209I|SDCBP_ENST00000447267.2_Missense_Mutation_p.V155I|SDCBP_ENST00000520168.1_Missense_Mutation_p.V150I|SDCBP_ENST00000424270.2_Missense_Mutation_p.V203I|SDCBP_ENST00000413219.2_Missense_Mutation_p.V209I O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 209 PDZ 2. actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CACTGGACATGTTGGTTTTAT 0.338000 5 72 0 0 0.001984 0 0 C6 729 broad.mit.edu 37 5 41159281 41159281 + Nonsense_Mutation SNP G G A TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr5:41159281G>A ENST00000263413.3 - 12 2023 c.1759C>T c.(1759-1761)Cga>Tga p.R587* C6_ENST00000337836.5_Nonsense_Mutation_p.R587* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 587 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTGCATTCTCGGGTTCTCGAT 0.493000 5 105 0 0 0.000602 0 0 NBEAL1 65065 broad.mit.edu 37 2 203922058 203922058 + Frame_Shift_Del DEL A A - TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr2:203922058delA ENST00000449802.1 + 6 730 c.397delA c.(397-399)aafs p.K135fs NBEAL1_ENST00000478884.1_3'UTR NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 135 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GTTAAAAAGCAAAAAAAAAGA 0.318 3 3 --- --- --- --- KRT8P30 391485 broad.mit.edu 37 2 219818739 219818739 + RNA DEL G G - TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr2:219818739delG ENST00000429343.1 - 0 45 GCCTCAGCCCGACTGTGGATG 0.517 2 4 --- --- --- --- CHAT 1103 broad.mit.edu 37 10 50872950 50872952 + In_Frame_Del DEL CTT CTT - TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr10:50872950_50872952delCTT ENST00000395562.2 + 16 2328_2330 c.1859_1861delCTT c.(1858-1863)act>a p.TS620del CHAT_ENST00000395559.2_In_Frame_Del_p.TS584del|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000337653.2_In_Frame_Del_p.TS702del|CHAT_ENST00000339797.1_In_Frame_Del_p.TS584del|CHAT_ENST00000351556.3_In_Frame_Del_p.TS584del NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 702 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGCAAAGAGACTTCTTCTAGCAA 0.502 8 306 --- --- --- --- KBTBD13 390594 broad.mit.edu 37 15 65369216 65369216 + Frame_Shift_Del DEL C C - TCGA-CR-7392-01A-11D-2012-08 TCGA-CR-7392-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0616d3e5-9641-4329-a65a-19f4c6918e1c 6af45747-7234-43ab-a250-f346349301fd g.chr15:65369216delC ENST00000432196.2 + 1 63 c.63delC c.(61-63)gafs p.D21fs NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 21 BTB. cytoplasm lung(1)|prostate(1)|skin(1) 3 TCCAAGCCGACCGCGCCCTGC 0.721 2 4 --- --- --- ---