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 LRRC37A6P 387646 broad.mit.edu 37 10 27536089 27536089 + RNA SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr10:27536089C>T ENST00000574842.1 + 0 255 TTATGAGGCTCTTCACTGCAG 0.438000 6 24 0 0 0.021553 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576753 158576753 + Silent SNP G G A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:158576753G>A ENST00000361284.1 + 1 525 c.525G>A c.(523-525)caG>caA p.Q175Q NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATGAAATCCAGCACTTTTTTT 0.498000 46 69 0 0 0.131918 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 65 0 0 0.115264 0 0 OSCP1 127700 broad.mit.edu 37 1 36915931 36915931 + Missense_Mutation SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:36915931C>T ENST00000356637.5 - 1 103 c.40G>A c.(40-42)Ggc>Agc p.G14S OSCP1_ENST00000235532.5_Missense_Mutation_p.G14S|OSCP1_ENST00000354267.3_Missense_Mutation_p.G14S|OSCP1_ENST00000315643.9_Missense_Mutation_p.G14S Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 14 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 ATCTCCCCGCCCAAGTTCAAG 0.647000 15 37 0 0 0.049695 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 6 68 0 0 0.058154 0 0 CLIP1 6249 broad.mit.edu 37 12 122803778 122803778 + Splice_Site SNP C C A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr12:122803778C>A ENST00000358808.2 - 17 3488 c.e17+1 CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) AATCTGATTACTTCATTCTGT 0.388000 10 24 4.68919e-08 1.69781e-07 0.069234 1 0 H6PD 9563 broad.mit.edu 37 1 9323860 9323860 + Silent SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:9323860C>T ENST00000377403.2 + 5 1610 c.1308C>T c.(1306-1308)ctC>ctT p.L436L H6PD_ENST00000602477.1_Silent_p.L447L NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 436 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CACCTGGGCTCCGCCTTTTCG 0.647000 7 35 0 0 0.038147 0 0 AHCY 191 broad.mit.edu 37 20 32878564 32878564 + Missense_Mutation SNP T T C TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr20:32878564T>C ENST00000538132.1 - 6 1041 c.655A>G c.(655-657)Atc>Gtc p.I219V AHCY_ENST00000217426.2_Missense_Mutation_p.I247V NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 247 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AGTGCGTTGATGGGGTCAATC 0.632000 14 48 0 0 0.132662 0 0 MYBL2 4605 broad.mit.edu 37 20 42333976 42333976 + Missense_Mutation SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr20:42333976C>T ENST00000217026.4 + 9 1610 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S MYBL2_ENST00000396863.4_Missense_Mutation_p.P471S NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 495 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGACAAGACACCCCTGCACCA 0.617000 5 26 0 0 0.014758 0 0 AMOTL2 51421 broad.mit.edu 37 3 134090193 134090193 + Missense_Mutation SNP G G A rs148668173 byFrequency TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr3:134090193G>A ENST00000514516.1 - 2 435 c.257C>T c.(256-258)aCg>aTg p.T86M AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000513145.1_Missense_Mutation_p.T28M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.T28M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.T28M NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 28 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 CAGCGTGCGCGTCTCAGTCAG 0.652000 6 26 0 0 0.029380 0 0 OR8B2 26595 broad.mit.edu 37 11 124252443 124252443 + Missense_Mutation SNP G G T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr11:124252443G>T ENST00000375013.2 - 1 815 c.797C>A c.(796-798)tCt>tAt p.S266Y NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTGCTCCATAGATCCAGAAGA 0.413000 10 56 1.67942e-08 6.29781e-08 0.038395 1 0 LILRA3 11026 broad.mit.edu 37 19 54800084 54800084 + Missense_Mutation SNP G G C TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr19:54800084G>C ENST00000391745.1 - 11 1649 c.1333C>G c.(1333-1335)Cca>Gca p.P445A LILRA3_ENST00000391744.3_Missense_Mutation_p.P364A|LILRA3_ENST00000251390.3_Missense_Mutation_p.P428A leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTTTGTGGTGGGCTGAGGGTC 0.493000 8 26 0 0 0.069234 0 0 AHNAK 79026 broad.mit.edu 37 11 62293257 62293257 + Missense_Mutation SNP T T A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr11:62293257T>A ENST00000378024.4 - 5 8906 c.8632A>T c.(8632-8634)Att>Ttt p.I2878F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2878 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGACATCAATGTCCACTTTG 0.488000 34 150 0 0 0.054565 0 0 BCAP29 55973 broad.mit.edu 37 7 107234412 107234412 + Translation_Start_Site SNP A A T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr7:107234412A>T ENST00000465919.1 + 0 170 BCAP29_ENST00000379119.2_Missense_Mutation_p.E69V|BCAP29_ENST00000445771.2_Missense_Mutation_p.E69V|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.E69V|BCAP29_ENST00000005259.4_Missense_Mutation_p.E69V Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 GCTGTGAGAGAAGTAAGGAAA 0.363000 7 29 0 0 0.047766 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 87 0 0 0.014758 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 7 0 0 0.014758 0 0 RYR3 6263 broad.mit.edu 37 15 33833066 33833066 + Silent SNP G G A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr15:33833066G>A ENST00000389232.4 + 7 691 c.621G>A c.(619-621)acG>acA p.T207T RYR3_ENST00000415757.3_Silent_p.T207T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 207 MIR 2. 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) TACATCCTACGTGCTCAGGAA 0.423000 12 22 0 0 0.119110 0 0 CACHD1 57685 broad.mit.edu 37 1 65107576 65107576 + Silent SNP G G A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:65107576G>A ENST00000371073.2 + 8 1080 c.1080G>A c.(1078-1080)gcG>gcA p.A360A CACHD1_ENST00000290039.5_Silent_p.A309A|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 360 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ATAAAAAAGCGACTCTCCAAG 0.378000 10 25 0 0 0.058154 0 0 ASXL2 55252 broad.mit.edu 37 2 25967144 25967144 + Missense_Mutation SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr2:25967144C>T ENST00000435504.4 - 13 2355 c.2062G>A c.(2062-2064)Ggg>Agg p.G688R ASXL2_ENST00000272341.4_Missense_Mutation_p.G428R|ASXL2_ENST00000404843.1_Missense_Mutation_p.G428R|ASXL2_ENST00000336112.4_Missense_Mutation_p.G660R Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 688 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAATGGTCCCTCCAACTGAG 0.617000 13 48 0 0 0.093190 0 0 SPEF2 79925 broad.mit.edu 37 5 35654685 35654685 + Missense_Mutation SNP G G A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr5:35654685G>A ENST00000440995.2 + 7 835 c.835G>A c.(835-837)Gat>Aat p.D279N SPEF2_ENST00000509059.1_Missense_Mutation_p.D279N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D279N|SPEF2_ENST00000282469.6_Missense_Mutation_p.D279N Q9C093 SPEF2_HUMAN sperm flagellar 2 279 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACAACCACCGATTTGTTAAA 0.373000 6 24 0 0 0.029380 0 0 POLR3C 10623 broad.mit.edu 37 1 145608466 145608466 + Missense_Mutation SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:145608466C>T ENST00000334163.3 - 3 501 c.341G>A c.(340-342)gGc>gAc p.G114D POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 114 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TGTCAGTTTGCCGTTCAACAG 0.463000 4 63 0 0 0.014758 0 0 NEK1 4750 broad.mit.edu 37 4 170428265 170428265 + Missense_Mutation SNP C C A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr4:170428265C>A ENST00000439128.2 - 21 2486 c.1846G>T c.(1846-1848)Gct>Tct p.A616S NEK1_ENST00000507142.1_Missense_Mutation_p.A644S|NEK1_ENST00000512193.1_Missense_Mutation_p.A547S|NEK1_ENST00000511633.1_Missense_Mutation_p.A600S|NEK1_ENST00000510533.1_Missense_Mutation_p.A572S NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 616 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) AGTACAGCAGCACGTGCATTT 0.358000 3 15 6.4e-05 0.000224 0.115264 1 0 HMCN1 83872 broad.mit.edu 37 1 186094764 186094764 + Silent SNP A A T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr1:186094764A>T ENST00000271588.4 + 82 12757 c.12528A>T c.(12526-12528)ggA>ggT p.G4176G HMCN1_ENST00000367492.2_Silent_p.G4176G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4176 Ig-like C2-type 41. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTACAGAAGGACACTACACGG 0.378000 10 62 0 0 0.058154 0 0 ZYX 7791 broad.mit.edu 37 7 143078812 143078812 + Missense_Mutation SNP C C T TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr7:143078812C>T ENST00000322764.5 + 2 493 c.148C>T c.(148-150)Ccc>Tcc p.P50S ZYX_ENST00000449423.2_5'UTR NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 50 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) TCCCCCGGCACCCGGGGCCCA 0.711000 3 12 0 0 0.115264 0 0 MYO16 23026 broad.mit.edu 37 13 109518569 109518569 + Silent SNP G G A TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr13:109518569G>A ENST00000356711.2 + 12 1464 c.1338G>A c.(1336-1338)gaG>gaA p.E446E MYO16_ENST00000251041.5_Silent_p.E446E|MYO16_ENST00000357550.2_Silent_p.E446E NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 446 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CATACAAGGAGCTTCCAATTT 0.308000 7 40 0 0 0.038147 0 0 EPC2 26122 broad.mit.edu 37 2 149447935 149447943 + Splice_Site DEL TATTCAGCG TATTCAGCG - rs115716706 by1000genomes TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr2:149447935_149447943delTATTCAGCG ENST00000258484.6 + 2 340_347 c.313_splice c.e2+1 p.Q102_splice EPC2_ENST00000409654.1_Splice_Site_p.Q102_splice NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 102 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AGTTCATTCATATTCAGCGTAAGTTTGTT 0.325 11 78 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 4 5 --- --- --- --- SLC41A3 54946 broad.mit.edu 37 3 125786853 125786853 + Frame_Shift_Del DEL G G - rs57029085 byFrequency TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr3:125786853delG ENST00000360370.4 - 2 253 c.210delC c.(208-210)acfs p.T70fs SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000346785.5_Frame_Shift_Del_p.T70fs|SLC41A3_ENST00000315891.6_Frame_Shift_Del_p.T70fs|SLC41A3_ENST00000508835.1_Intron Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 70 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) TGAAGGGCACGGTCACCTGAA 0.607 13 119 --- --- --- --- TNFAIP8 25816 broad.mit.edu 37 5 118728603 118728603 + Frame_Shift_Del DEL T T - TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr5:118728603delT ENST00000504771.2 + 2 1901 c.124delT c.(124-126)tafs p.L42fs TNFAIP8_ENST00000274456.6_Frame_Shift_Del_p.L32fs|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Frame_Shift_Del_p.L42fs|TNFAIP8_ENST00000504642.1_Frame_Shift_Del_p.L44fs|TNFAIP8_ENST00000513374.1_Frame_Shift_Del_p.L54fs NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 42 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) CGCCACCACCTTAATAGACGA 0.453 2 4 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24924024 24924027 + Frame_Shift_Del DEL TTTG TTTG - TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr10:24924024_24924027delTTTG ENST00000396432.2 - 5 760_763 c.274_277delCAAA c.(274-279)gafs p.QR92fs NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 91 PDZ. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AAGCGGTTTCTTTGTTTTCCTGTT 0.338 9 30 --- --- --- --- LOC102723809 102723809 broad.mit.edu 37 14 65002317 65002317 + RNA DEL A A - TCGA-55-6984-01A-11D-1945-08 TCGA-55-6984-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 309f5324-5608-4f62-b744-5ab268b70927 95bd4570-1588-4464-a301-aa425af048b8 g.chr14:65002317delA ENST00000554918.1 - 0 52 cttggttctcattctctcttg 0.408 4 7 --- --- --- ---