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 REG1P 0 broad.mit.edu 37 2 79365098 79365098 + RNA SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:79365098C>T ENST00000444841.1 - 0 160 CTCACCTTGGCTCAGAGACAG 0.493000 4 32 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110206636 110206636 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr12:110206636G>A ENST00000538780.1 + 3 1618 c.902G>A c.(901-903)cGt>cAt p.R301H FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 301 CAGCCACTGCGTGCCTACAGT 0.711000 6 7 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15272961 15272961 + Missense_Mutation SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:15272961C>A ENST00000546332.1 - 4 663 c.180G>T c.(178-180)tgG>tgT p.W60C ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000380488.4_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C|ASB9_ENST00000473862.1_5'UTR NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 60 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) TGTTCACAGCCCACCCCTGAA 0.502000 5 123 0.014758 0.0149358 1 1 0 HGS 9146 broad.mit.edu 37 17 79653378 79653378 + Silent SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr17:79653378C>T ENST00000329138.4 + 3 294 c.159C>T c.(157-159)gtC>gtT p.V53V NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 53 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) AGAAGAAAGTCAACGACAAGA 0.478000 62 12 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 76 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110234489 110234489 + Silent SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr12:110234489C>T ENST00000418703.2 - 6 1267 c.1173G>A c.(1171-1173)cgG>cgA p.R391R TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.R391R NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 391 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TCACCTCCCGCCGGATGATGT 0.622000 28 43 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15272962 15272962 + Missense_Mutation SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:15272962C>A ENST00000546332.1 - 4 662 c.179G>T c.(178-180)tGg>tTg p.W60L ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000380488.4_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L|ASB9_ENST00000473862.1_5'UTR NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 60 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) GTTCACAGCCCACCCCTGAAG 0.502000 5 122 0.014758 0.0149358 1 1 0 CDHR2 54825 broad.mit.edu 37 5 176016580 176016580 + Missense_Mutation SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:176016580A>G ENST00000510636.1 + 24 3443 c.3169A>G c.(3169-3171)Aag>Gag p.K1057E CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1057 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTCCACACCGAAGGAGGAGGT 0.647000 16 46 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923451 78923451 + Missense_Mutation SNP C C T rs149832833 byFrequency TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:78923451C>T ENST00000261751.3 - 4 437 c.326G>A c.(325-327)cGc>cAc p.R109H CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H|CHRNB4_ENST00000560511.1_5'UTR NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 109 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CAACCAGATGCGCTTTGCAGG 0.592000 4 104 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45391874 45391874 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:45391874G>A ENST00000389039.6 - 25 3786 c.3401C>T c.(3400-3402)gCt>gTt p.A1134V DUOX2_ENST00000603300.1_Missense_Mutation_p.A1134V Q9NRD8 DUOX2_HUMAN dual oxidase 2 1134 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CAGGACAACAGCAGCCATGGC 0.557000 38 63 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140773541 140773541 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:140773541C>T ENST00000371372.1 + 2 465 c.320C>T c.(319-321)gCc>gTc p.A107V CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 107 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACCATCATCGCCAACTGCATC 0.647000 8 39 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66459898 66459898 + RNA SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:66459898A>G ENST00000424345.1 + 0 158 cagtgtctggacattaaaatc 0.378000 4 8 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49845343 49845343 + Silent SNP G G A rs140312372 byFrequency TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:49845343G>A ENST00000376088.3 + 8 1337 c.696G>A c.(694-696)gcG>gcA p.A232A CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A|CLCN5_ENST00000307367.2_Silent_p.A162A NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 162 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) AGGTGTTTGCGCCTTATGCCT 0.408000 20 43 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12952782 12952782 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:12952782G>A ENST00000235347.4 - 4 1469 c.1390C>T c.(1390-1392)Cca>Tca p.P464S NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 464 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCTCAGATGGCCATGAGCCA 0.517000 30 7 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123838998 123838998 + Missense_Mutation SNP G G T rs138121113 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:123838998G>T ENST00000422452.2 - 5 943 c.880C>A c.(880-882)Cct>Act p.P294T TENM1_ENST00000371130.3_Missense_Mutation_p.P294T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CGAGGAAGAGGCCTGGGAGGG 0.522000 10 193 0.00829132 0.00870588 1 1 0 CAMK2B 816 broad.mit.edu 37 7 44268464 44268464 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr7:44268464C>T ENST00000395749.2 - 19 1475 c.1399G>A c.(1399-1401)Gag>Aag p.E467K CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 467 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 AGGGGGCCCTCGGCTTCTGGG 0.652000 16 27 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 1969 1969 + RNA SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrM:1969G>A ENST00000387347.2 + 0 299 NR_039705.1 AGCAAAATAGTGGGAAGATTT 0.443000 5 85 0 0 1 0 0 C6orf70 0 broad.mit.edu 37 6 170176736 170176736 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr6:170176736G>A ENST00000588451.1 + 15 1811 c.1298G>A c.(1297-1299)cGc>cAc p.R433H C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R569H|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000392095.4_Missense_Mutation_p.R443H Q5T6L9 CF070_HUMAN 569 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CTGCGGTCTCGCCAGCGGCAG 0.597000 19 29 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 6 15 0 0 1 0 0 ASB13 79754 broad.mit.edu 37 10 5693326 5693326 + Splice_Site SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr10:5693326C>T ENST00000357700.6 - 3 258 c.231_splice c.e3-1 p.V78_splice ASB13_ENST00000479033.1_Intron NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 78 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) CGAGCATCCACCTCACGGGAG 0.567000 14 18 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188315 140188315 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:140188315G>A ENST00000530339.1 + 1 1543 c.1543G>A c.(1543-1545)Ggc>Agc p.G515S PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGAGAGCGGCAAGGTGTA 0.677000 128 96 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50955098 50955098 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr10:50955098G>A ENST00000374103.4 - 9 1229 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C|OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 382 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCATCTCCACGGTAGAACTGC 0.642000 44 76 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 6 37 0.000442599 0.000476645 1 1 0 IRX6 79190 broad.mit.edu 37 16 55362885 55362885 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr16:55362885C>T ENST00000290552.7 + 5 2327 c.995C>T c.(994-996)gCg>gTg p.A332V RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 332 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 TTCCTCTCGGCGGAGACAGGC 0.632000 5 75 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885521 60885521 + Silent SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr20:60885521C>A ENST00000252999.3 - 76 10620 c.10554G>T c.(10552-10554)ctG>ctT p.L3518L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3518 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCGCCTCCAGGGGGCCCA 0.682000 22 72 7.41877e-09 8.42131e-09 1 1 0 PRRC2A 7916 broad.mit.edu 37 6 31599134 31599134 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr6:31599134G>A ENST00000376033.2 + 16 2918 c.2684G>A c.(2683-2685)gGg>gAg p.G895E PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 895 4 X 57 AA type A 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 CAGCTGACGGGGCCAGAAGCA 0.667000 21 28 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084755 17084755 + RNA SNP T T C rs140682808 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:17084755T>C ENST00000455405.2 - 0 261 ACTGCTCCTTTACTAGAGACC 0.577000 3 31 0 0 1 0 0 MPV17 4358 broad.mit.edu 37 2 27535950 27535950 + Missense_Mutation SNP T T C TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:27535950T>C ENST00000380044.1 - 3 152 c.97A>G c.(97-99)Atc>Gtc p.I33V MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V NM_002437.4 NP_002428.1 P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein 33 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGTGAGATAATGTCACCC 0.592000 37 55 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928766 32928766 + Missense_Mutation SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:32928766A>G ENST00000361627.3 + 12 2514 c.1792A>G c.(1792-1794)Aaa>Gaa p.K598E ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 598 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) GACTTTGGTGAAAGTTCAAAA 0.373000 17 25 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325831 37325831 + Missense_Mutation SNP T T C TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr22:37325831T>C ENST00000262825.5 + 6 917 c.700T>C c.(700-702)Tgc>Cgc p.C234R CSF2RB_ENST00000403662.3_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 234 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCCAGAGGTTTGCTGGGACTC 0.657000 18 19 0 0 1 0 0 STX3 6809 broad.mit.edu 37 11 59559673 59559673 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr11:59559673C>T ENST00000535361.1 + 6 998 c.451C>T c.(451-453)Cgg>Tgg p.R151W STX3_ENST00000337979.4_Missense_Mutation_p.R151W|STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W Q13277 STX3_HUMAN syntaxin 3 151 cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1) 13 GCGAATCCAGCGGCAGCTCGA 0.527000 17 37 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27449457 27449457 + Missense_Mutation SNP G G T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:27449457G>T ENST00000264705.4 + 14 2258 c.2096G>T c.(2095-2097)gGt>gTt p.G699V CAD_ENST00000403525.1_Missense_Mutation_p.G636V NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 699 ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AAGGCCACAGGTTATCCACTG 0.522000 34 43 1.45844e-13 1.6782e-13 1 1 0 ESPNP 0 broad.mit.edu 37 1 17029267 17029267 + RNA SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:17029267G>A ENST00000492551.1 - 0 1098 NR_026567.1 TCAGCTGCCTGTGGTCCCACA 0.652000 23 164 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61774882 61774882 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr8:61774882G>A ENST00000423902.2 + 36 8437 c.7958G>A c.(7957-7959)cGa>cAa p.R2653Q CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2653 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GTCAATAAACGAAATGGGAAG 0.398000 4 14 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52521021 52521021 + Silent SNP G G T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr14:52521021G>T ENST00000216286.5 - 4 785 c.786C>A c.(784-786)atC>atA p.I262I NID2_ENST00000541773.1_Silent_p.I209I NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 262 NIDO. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) ACACTCCAGGGATCCCCAGGT 0.483000 24 5 3.6726e-16 4.2847e-16 1 1 0 HOXA13 3209 broad.mit.edu 37 7 27237844 27237844 + Silent SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr7:27237844G>A ENST00000222753.4 - 2 1168 c.1140C>T c.(1138-1140)gtC>gtT p.V380V NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 380 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 GTTTGTTGATGACTTTTTTCT 0.423000 T NUP98 AML 71 106 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411904 179411904 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:179411904G>A ENST00000589042.1 - 340 94572 c.94348C>T c.(94348-94350)Cgt>Tgt p.R31450C TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29809 Fibronectin type-III 129. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGTATTACGTTCTTTCTTC 0.423000 95 135 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411431 63411431 + Missense_Mutation SNP T T A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:63411431T>A ENST00000330258.3 - 2 2008 c.1736A>T c.(1735-1737)gAg>gTg p.E579V AMER1_ENST00000403336.1_Missense_Mutation_p.E579V|AMER1_ENST00000374869.3_Missense_Mutation_p.E579V NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTCCTGGGCCTCAAGCTGCTC 0.612000 4 83 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35035360 35035360 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:35035360G>A ENST00000231420.6 - 5 748 c.548C>T c.(547-549)gCg>gTg p.A183V NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 183 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GTTTGAGTGCGCCCTGGCCAT 0.433000 19 80 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6101114 6101114 + Silent SNP G G A rs149847513 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr12:6101114G>A ENST00000261405.5 - 38 6923 c.6669C>T c.(6667-6669)aaC>aaT p.N2223N NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2223 E2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGAGCTCACGTTGCCATCAC 0.552000 24 28 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 11 30 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134260173 134260173 + Splice_Site SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr7:134260173C>A ENST00000457545.2 + 7 775 c.513_splice c.e7-1 p.A172_splice AKR1B15_ENST00000423958.1_Splice_Site_p.A144_splice NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 172 oxidoreductase activity p.A190V(1)|p.A144V(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CTATGATAGGCCATGGAGGAG 0.517000 6 48 5.9392e-07 6.6519e-07 1 1 0 RP11-262H14.1 0 broad.mit.edu 37 9 66468755 66468755 + RNA SNP T T C TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:66468755T>C ENST00000424345.1 + 0 2322 gtgatgcctatctgacctctc 0.493000 4 3 0 0 1 0 0 NXF4 0 broad.mit.edu 37 X 101804913 101804913 + RNA SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:101804913A>G ENST00000360035.2 + 0 21 NR_002216.1 endometrium(2)|lung(8) 10 GGACTCCCTCAGTGTGTTGTC 0.542000 27 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579389 7579389 + Nonsense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr17:7579389G>A ENST00000420246.2 - 4 430 c.298C>T c.(298-300)Cag>Tag p.Q100* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q100* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 100 Interaction with HIPK1 (By similarity).|Interaction with WWOX. Q -> R (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TAGGTTTTCTGGGAAGGGACA 0.652000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 71 24 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47050735 47050735 + Silent SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr3:47050735G>A ENST00000450053.3 + 54 8369 c.8190G>A c.(8188-8190)aaG>aaA p.K2730K NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2730 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TCGCGCGGAAGCTGTGGCGGT 0.697000 6 5 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109087815 109087815 + Missense_Mutation SNP C C G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:109087815C>G ENST00000309863.6 + 6 2744 c.2030C>G c.(2029-2031)tCt>tGt p.S677C NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 677 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 AAAGTTCTCTCTGAAGACAAA 0.333000 57 99 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66458198 66458198 + RNA SNP C C G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:66458198C>G ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA taaccagtcccgaccctgctt 0.622000 3 11 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234378 84234378 + Silent SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr6:84234378C>T ENST00000536636.1 + 3 1563 c.1218C>T c.(1216-1218)aaC>aaT p.N406N PRSS35_ENST00000369700.3_Silent_p.N406N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 406 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TTCACGGGAACGATGCCAATT 0.498000 21 24 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131515492 131515492 + Missense_Mutation SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:131515492C>A ENST00000291900.2 - 4 1103 c.697G>T c.(697-699)Gac>Tac p.D233Y NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 233 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TCGGACAGGTCCATGTTGTAG 0.642000 11 3 3.07112e-06 3.39439e-06 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993983 140993983 + Missense_Mutation SNP C C A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:140993983C>A ENST00000285879.4 + 4 1079 c.793C>A c.(793-795)Cag>Aag p.Q265K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 265 protein binding p.Q265K(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGTTTTGCCCAGTCTTCTCT 0.488000 HNSCC(15;0.026) 5 164 0.014758 0.0149358 1 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906237 144906237 + Missense_Mutation SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:144906237A>G ENST00000370490.1 + 1 6549 c.2294A>G c.(2293-2295)gAa>gGa p.E765G SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 765 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CGAGTCAAGGAACTTCCCAGC 0.478000 20 267 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188327559 188327559 + Missense_Mutation SNP C C G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr3:188327559C>G ENST00000312675.4 + 6 1286 c.1040C>G c.(1039-1041)cCa>cGa p.P347R LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P347R NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 347 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GGGATGTATCCAGTCACTGGT 0.522000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 33 56 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.R570L(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.557000 5 36 8.12818e-05 8.86711e-05 1 1 0 ZSWIM4 65249 broad.mit.edu 37 19 13941049 13941049 + Missense_Mutation SNP T T C TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr19:13941049T>C ENST00000254323.2 + 13 2344 c.2155T>C c.(2155-2157)Ttc>Ctc p.F719L ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 719 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GTATTCCTTATTCACACCAGT 0.602000 34 11 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30268692 30268692 + Missense_Mutation SNP G G T rs2856741 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:30268692G>T ENST00000378981.3 + 4 403 c.82G>T c.(82-84)Gct>Tct p.A28S MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 28 A -> R (in Ref. 1; CAA57889). NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TCTCAAGGTTGCTCACGCCAC 0.602000 7 24 0.00198382 0.00210938 1 1 0 CARD11 84433 broad.mit.edu 37 7 2953022 2953022 + Missense_Mutation SNP C C T rs141681466 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr7:2953022C>T ENST00000396946.4 - 22 3321 c.2918G>A c.(2917-2919)cGc>cAc p.R973H NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 973 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGGCCGGCGGCGCTCGCAGTA 0.647000 Mis DLBCL 49 71 0 0 1 0 0 ZRANB1 54764 broad.mit.edu 37 10 126672148 126672148 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr10:126672148G>A ENST00000359653.4 + 8 2170 c.1799G>A c.(1798-1800)cGa>cAa p.R600Q NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 600 TRAF-binding. positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) TATGGCAACCGAGGTGCTGGT 0.468000 24 44 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39981249 39981249 + Missense_Mutation SNP A A T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr20:39981249A>T ENST00000373257.3 + 10 1458 c.1367A>T c.(1366-1368)aAa>aTa p.K456I NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 456 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) TGCCCAGAGAAATTCAACCAG 0.567000 14 594 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238722 57238722 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr16:57238722G>A ENST00000537866.1 + 2 1025 c.152G>A c.(151-153)gGa>gAa p.G51E RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 51 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 GATGACAGTGGAACAGATGAC 0.552000 93 103 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589885 156589885 + Missense_Mutation SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:156589885G>A ENST00000302938.4 - 2 1486 c.1391C>T c.(1390-1392)gCg>gTg p.A464V NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 464 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGGAAGACGCTTTCTGATT 0.512000 94 72 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10659423 10659423 + Splice_Site SNP A A G TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:10659423A>G ENST00000356607.4 + 4 378 c.298_splice c.e4+1 p.S100_splice PEX14_ENST00000538836.1_Splice_Site_p.S36_splice NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 100 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) TCAGCCATACAGTAAGTCACC 0.557000 16 74 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7709 7709 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrM:7709C>T ENST00000361739.1 + 1 124 c.124C>T c.(124-126)Ctt>Ttt p.L42F mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TCCTGTATGCCCTTTTCCTAA 0.433000 11 110 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65916138 65916138 + Silent SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr17:65916138C>T ENST00000321892.4 + 15 5875 c.5814C>T c.(5812-5814)tcC>tcT p.S1938S BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S|BPTF_ENST00000306378.6_Silent_p.S1812S Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1938 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TAGAAACATCCGAAACTGAAA 0.343000 42 14 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7417153 7417153 + Missense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr17:7417153C>T ENST00000322644.6 + 29 5969 c.5570C>T c.(5569-5571)tCt>tTt p.S1857F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1857 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACCCCAACCTCTCCCAAGTAC 0.567000 104 154 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43675666 43675666 + Silent SNP A A C TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:43675666A>C ENST00000264663.5 + 18 2909 c.2688A>C c.(2686-2688)tcA>tcC p.S896S NNT_ENST00000344920.4_Silent_p.S896S|NNT_ENST00000512996.2_Silent_p.S765S NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 896 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GCACCACTTCAACAGCTGGTG 0.403000 21 44 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6031879 6031879 + Silent SNP G G A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr12:6031879G>A ENST00000546188.1 - 2 173 c.102C>T c.(100-102)ctC>ctT p.L34L ANO2_ENST00000327087.8_Silent_p.L34L|ANO2_ENST00000356134.5_Silent_p.L34L Q9NQ90 ANO2_HUMAN anoctamin 2 38 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CTGGCATCTTGAGACACTGCT 0.662000 6 6 0 0 1 0 0 AOC4P 0 broad.mit.edu 37 17 41019567 41019567 + RNA SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr17:41019567C>T ENST00000585538.1 + 0 406 NR_002773.1 GCCCAGCCCTCGGACAACTGT 0.662000 103 38 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17710478 17710478 + Nonsense_Mutation SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:17710478C>T ENST00000380060.3 + 3 1080 c.742C>T c.(742-744)Cga>Tga p.R248* NHS_ENST00000398097.3_Nonsense_Mutation_p.R71* NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 248 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GAGCGATCGCCGAGAGCAAAG 0.532000 33 62 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45948052 45948052 + Missense_Mutation SNP C C A rs142831797 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr11:45948052C>A ENST00000531526.1 + 9 1179 c.1068C>A c.(1066-1068)ttC>ttA p.F356L GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 356 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) TGGAATTCTTCCGCAATTTCT 0.582000 36 5 9.17885e-22 1.08595e-21 1 1 0 NWD1 284434 broad.mit.edu 37 19 16872832 16872832 + Silent SNP C C T TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr19:16872832C>T ENST00000524140.2 + 8 2434 c.2016C>T c.(2014-2016)tcC>tcT p.S672S NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000552788.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000339803.6_Silent_p.S537S|NWD1_ENST00000549814.1_Silent_p.S672S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 672 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTCAGGATCCGAGAGAGCCA 0.577000 13 38 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57535038 57535038 + Frame_Shift_Del DEL A A - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:57535038delA ENST00000371236.2 - 8 921 c.658delT c.(658-660)atfs p.Y220fs DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 220 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TATACCTGATAAATGTTTTCT 0.423 47 43 --- --- --- --- RP11-475O6.1 0 broad.mit.edu 37 1 84311093 84311093 + RNA DEL A A - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:84311093delA ENST00000417975.1 - 0 178 tgaaggtgagaaggggagaat 0.428 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109293 145109294 + RNA INS - - A rs7364468 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr1:145109293_145109294insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding caaaaaaaaagaaaaaaaaaaa 0.431 4 2 --- --- --- --- AC011747.4 0 broad.mit.edu 37 2 8719216 8719216 + RNA DEL C C - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:8719216delC ENST00000454224.1 - 0 213 GACAGTGCTTCCCATCCCACC 0.572 2 4 --- --- --- --- AC073283.4 0 broad.mit.edu 37 2 47550195 47550201 + RNA DEL ACACTAC ACACTAC - rs35466060 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:47550195_47550201delACACTAC ENST00000419035.1 - 0 66 p.0?(2)|p.?(1) acactacactacactacacactacact 0.454 3 4 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 59253914 59253915 + RNA DEL GT GT - rs61546892 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:59253914_59253915delGT ENST00000452840.1 + 0 1053 ATATGTGAGGgtgtgtgtgtgt 0.421 2 4 --- --- --- --- AC097532.2 0 broad.mit.edu 37 2 133046597 133046597 + RNA DEL A A - rs111715068 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr2:133046597delA ENST00000440802.1 - 0 101 TCTGAGCTCGAGGCCCCCCAA 0.597 3 3 --- --- --- --- RFC1 5981 broad.mit.edu 37 4 39304717 39304718 + Frame_Shift_Del DEL TC TC - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr4:39304717_39304718delTC ENST00000381897.1 - 16 2300_2301 c.2167_2168delGA c.(2167-2169)tfs p.D723fs RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 723 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TGCCATGCCATCTACTTCATCC 0.416 16 30 --- --- --- --- MAP3K1 4214 broad.mit.edu 37 5 56178633 56178643 + Frame_Shift_Del DEL CCCCATAGTTC CCCCATAGTTC - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr5:56178633_56178643delCCCCATAGTTC ENST00000399503.3 + 14 3606_3616 c.3606_3616delCCCCATAGTTC c.(3604-3618)ctctfs p.LPIVP1202fs NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1202 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AGGATGCCCTCCCCATAGTTCCTCAGCTGCA 0.417 18 32 --- --- --- --- RP11-420G6.4 0 broad.mit.edu 37 6 2871987 2871987 + RNA DEL G G - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr6:2871987delG ENST00000545177.2 - 0 135 ccagctacttgggaggctgag 0.562 2 4 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197072 1197073 + RNA INS - - A TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr8:1197072_1197073insA ENST00000517950.1 - 0 308_309 TCAGTGTGTGGAGTGATGGTCC 0.569 5 10 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406251 68406251 + RNA DEL A A - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr9:68406251delA ENST00000417843.2 - 0 224 atcaatggggaaaagattccc 0.378 2 4 --- --- --- --- LINC00842 0 broad.mit.edu 37 10 47119797 47119797 + RNA DEL A A - rs77634817 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr10:47119797delA ENST00000422732.2 - 0 435 NR_033957.1 ccataaaaataaaaaaAAAAA 0.303 4 4 --- --- --- --- SPI1 6688 broad.mit.edu 37 11 47380277 47380278 + Frame_Shift_Del DEL CA CA - rs72160162 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr11:47380277_47380278delCA ENST00000533968.1 - 4 743_744 c.610_611delTG c.(610-612)cfs p.C204fs SPI1_ENST00000227163.4_Intron|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000378538.3_Intron P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 0 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) ggcaaacatgcacacacacaca 0.614 3 4 --- --- --- --- RP4-601P9.2 0 broad.mit.edu 37 12 115174857 115174860 + RNA DEL GTGT GTGT - rs147888391 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr12:115174857_115174860delGTGT ENST00000551875.1 + 0 541 gtgtgtgtgcgtgtgtgtgtgtgt 0.564 3 2 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20493961 20493961 + RNA DEL T T - rs71245182 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:20493961delT ENST00000555186.1 + 0 568 NR_038836.1 gctaatttaattttttttttt 0.488 5 3 --- --- --- --- RP11-509A17.3 0 broad.mit.edu 37 15 20558347 20558348 + RNA DEL TT TT - rs147396717 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:20558347_20558348delTT ENST00000557528.1 + 0 734_735 tgggaggcaatttttttttttt 0.515 3 4 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18245253 18245254 + RNA INS - - AC rs67600644 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr16:18245253_18245254insAC ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA CCAACCTACCTacacacacaca 0.505 2 4 --- --- --- --- RP11-454P7.3 0 broad.mit.edu 37 18 15197154 15197156 + RNA DEL ACC ACC - rs35960395 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr18:15197154_15197156delACC ENST00000581666.1 - 0 256_258 TTCTTTAATAACCACACTTTGTT 0.498 4 6 --- --- --- --- RP4-760C5.5 0 broad.mit.edu 37 20 25937358 25937358 + RNA DEL C C - rs111987729 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr20:25937358delC ENST00000449316.1 + 0 183 ttggctgagacagaaagaaaa 0.438 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11048257 11048257 + RNA DEL C C - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:11048257delC ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTCTTCTGCCCCCAAAGAT 0.318 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066526 11066532 + RNA DEL ATAACAT ATAACAT - rs79906709 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:11066526_11066532delATAACAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTGTAAGAAAATAACATATAAccaggc 0.391 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11091025 11091026 + RNA INS - - A rs144528420 TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:11091025_11091026insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agagaaggtagaagaggaggta 0.421 4 6 --- --- --- --- MCM3AP-AS1 0 broad.mit.edu 37 21 47649744 47649745 + RNA INS - - G rs11379593 by1000genomes TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chr21:47649744_47649745insG ENST00000414659.1 + 0 36 MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA GCAACAGGGCAGGGGGCGTCTG 0.569 3 3 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153050878 153050883 + In_Frame_Del DEL CACAGT CACAGT - TCGA-N8-A56S-01A-11D-A28R-08 TCGA-N8-A56S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86211ee6-0559-4825-a102-ed909f5328ee cf639b94-ef71-448e-80fe-eeb0283bd015 g.chrX:153050878_153050883delCACAGT ENST00000489426.1 + 21 4174_4179 c.1808_1813delCACAGT c.(1807-1815)atc>a p.TQF603del SRPK3_ENST00000393786.3_In_Frame_Del_p.TQF502del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQF461del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQF535del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQF503del Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 536 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GAGCAGGCCACACAGTTCAGCGCCTT 0.626 49 97 --- --- --- ---