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 ANKRD30BL 554226 broad.mit.edu 37 2 132905741 132905741 + Missense_Mutation SNP G G A rs111770980 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:132905741G>A ENST00000409867.1 - 6 989 c.740C>T c.(739-741)aCg>aTg p.T247M ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GCTTTCAGCCGTGTCAGGTGT 0.438000 3 19 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124195302 124195302 + Missense_Mutation SNP A A G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr8:124195302A>G ENST00000518448.1 + 2 2220 c.206A>G c.(205-207)cAg>cGg p.Q69R FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 69 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GTGGAGGCCCAGTACATCCAG 0.677000 25 43 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 95 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 60 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 4 191 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23117810 23117810 + Splice_Site SNP T T A rs137886921 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:23117810T>A ENST00000219689.7 - 3 771 c.e3-2 NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TGATGGTGGCTAAAAAAAAAA 0.388000 3 29 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 197 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885941 45885941 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:45885941G>A ENST00000418234.2 - 12 2370 c.2292C>T c.(2290-2292)taC>taT p.Y764Y PPP1R13L_ENST00000360957.5_Silent_p.Y764Y NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 764 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCCAGAGAGCGTACACTGCCC 0.662000 32 38 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 61 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25243680 25243680 + Silent SNP C C G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr22:25243680C>G ENST00000400358.4 + 4 276 c.219C>G c.(217-219)ctC>ctG p.L73L SGSM1_ENST00000400359.4_Silent_p.L73L NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 73 RUN. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 TTGCAGCCCTCTTTATGAAAG 0.617000 31 7 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 119 0.000602214 0.000625831 1 1 0 RBBP5 5929 broad.mit.edu 37 1 205070793 205070793 + Missense_Mutation SNP G G C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:205070793G>C ENST00000264515.6 - 6 708 c.567C>G c.(565-567)ttC>ttG p.F189L RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 189 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TTGTCACTCTGAAGGAAGCAA 0.393000 117 143 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326017 152326017 + Missense_Mutation SNP C C A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:152326017C>A ENST00000388718.5 - 3 4317 c.4245G>T c.(4243-4245)agG>agT p.R1415S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1415 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCAGTTGTCCTGGACCCTC 0.527000 8 511 0.00307968 0.0031389 1 1 0 MBD5 55777 broad.mit.edu 37 2 149227911 149227911 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:149227911G>A ENST00000407073.1 + 9 3396 c.2399G>A c.(2398-2400)gGc>gAc p.G800D MBD5_ENST00000404807.1_Missense_Mutation_p.G800D NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 800 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGTCAGTCGGGCATGGCTTTA 0.453000 4 195 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65314941 65314941 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:65314941C>T ENST00000301873.5 - 14 2344 c.2076G>A c.(2074-2076)cgG>cgA p.R692R LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000536982.1_Silent_p.R318R NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 692 Cys-rich.|EGF-like 5; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGGCTTTGAGCCGGTAGCCGG 0.627000 4 131 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60553271 60553271 + Missense_Mutation SNP G G C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr10:60553271G>C ENST00000373886.3 + 9 1079 c.1075G>C c.(1075-1077)Gat>Cat p.D359H NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 359 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 GTTGATGTTTGATATGAAGGA 0.358000 5 104 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 4 103 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 6 89 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102567138 102567138 + Missense_Mutation SNP G G T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:102567138G>T ENST00000260229.4 - 6 957 c.866C>A c.(865-867)aCa>aAa p.T289K NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 289 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GCGGAAAGTTGTGATAGCGTC 0.413000 42 54 3.76604e-16 4.07347e-16 1 1 0 POLG 5428 broad.mit.edu 37 15 89862284 89862284 + Missense_Mutation SNP C C A rs121918049 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89862284C>A ENST00000268124.5 - 20 3484 c.3151G>T c.(3151-3153)Ggg>Tgg p.G1051W POLG_ENST00000442287.2_Missense_Mutation_p.G1051W NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1051 G -> R (in SANDO). base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TCTGTGCCCCCCTTCCATGCC 0.532000 DNA polymerases (catalytic subunits) 4 173 1 1 1 1 0 CDH15 1013 broad.mit.edu 37 16 89261332 89261332 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:89261332C>T ENST00000289746.2 + 14 2279 c.2214C>T c.(2212-2214)gaC>gaT p.D738D NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 738 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) TCATCTATGACTACGAGGGTG 0.622000 22 56 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 98 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 90 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 7 26 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35810383 35810383 + Splice_Site SNP T T A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr6:35810383T>A ENST00000373825.2 - 14 1906 c.e14-2 SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.?(2) endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TTCAAAGGCCTAAAAAAAAAA 0.418000 3 36 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107391082 107391082 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr12:107391082G>A ENST00000008527.5 - 10 2442 c.1575C>T c.(1573-1575)agC>agT p.S525S NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 525 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TTCCACTGCTGCTACAACCTG 0.343000 5 488 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 168 0 0 1 0 0 CD37 951 broad.mit.edu 37 19 49840216 49840216 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:49840216G>A ENST00000535669.2 + 3 307 c.193G>A c.(193-195)Gga>Aga p.G65R CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Missense_Mutation_p.G65R|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR P11049 CD37_HUMAN CD37 molecule 65 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GGCCATCTCAGGAATCTTCAC 0.632000 3 51 0 0 1 0 0 TIMM10 26519 broad.mit.edu 37 11 57296266 57296266 + Missense_Mutation SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:57296266C>T ENST00000257245.4 - 3 349 c.197G>A c.(196-198)gGc>gAc p.G66D TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D NM_012456.2 NP_036588.1 P62072 TIM10_HUMAN translocase of inner mitochondrial membrane 10 homolog (yeast) 66 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex zinc ion binding cervix(1)|large_intestine(2) 3 CAACTTTTTGCCCATCCGCTC 0.542000 4 154 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:90162462A>G ENST00000567960.1 + 0 1198 TUBB8P7_ENST00000564451.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 5 178 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89804896 89804896 + Missense_Mutation SNP T T A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89804896T>A ENST00000310775.7 + 5 455 c.369T>A c.(367-369)aaT>aaA p.N123K FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 123 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GCCTAGTGAATGGAAAATCTT 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 123 213 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16902242 16902242 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr19:16902242G>A ENST00000524140.2 + 14 3440 c.3022G>A c.(3022-3024)Gtg>Atg p.V1008M NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1008 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 GTGCATGGCCGTGCTGGCCTC 0.517000 71 90 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46051813 46051813 + Splice_Site SNP A A C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr17:46051813A>C ENST00000536708.2 + 5 517 c.409_splice c.e5+1 p.L136_splice CDK5RAP3_ENST00000338399.4_Splice_Site_p.L111_splice NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 111 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 ACACCTACTTAGGTAAAGTGG 0.498000 38 79 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402355 89402355 + Missense_Mutation SNP A A T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr15:89402355A>T ENST00000439576.2 + 12 6913 c.6539A>T c.(6538-6540)gAg>gTg p.E2180V ACAN_ENST00000561243.1_Missense_Mutation_p.E2180V|ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2180 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGGGGACAGAGGCACCAGGC 0.592000 4 130 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 112 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77969505 77969505 + Missense_Mutation SNP T T C rs139547927 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr4:77969505T>C ENST00000237654.4 - 7 1577 c.1001A>G c.(1000-1002)tAt>tGt p.Y334C CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 334 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 GATTCCATCATAGAAGTCATC 0.453000 61 112 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3948596 3948596 + RNA SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr4:3948596C>T ENST00000281228.8 - 0 789 FAM86EP_ENST00000313946.8_RNA AGCCAGCCTCCGCAGGACCCC 0.587000 5 83 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9187392 9187392 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:9187392G>A ENST00000328194.3 - 11 2594 c.2274C>T c.(2272-2274)tgC>tgT p.C758C DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 758 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTTATTGCGGCATTCCTTCA 0.498000 4 150 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 114 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 819596 819596 + Silent SNP C C T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr16:819596C>T ENST00000293892.3 - 16 2993 c.2994G>A c.(2992-2994)gcG>gcA p.A998A MSLNL_ENST00000442466.1_Silent_p.A647A Q96KJ4 MSLNL_HUMAN mesothelin-like 647 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GCAGGGCCATCGCCAGGGGCA 0.652000 3 42 0 0 1 0 0 ERCC8 1161 broad.mit.edu 37 5 60240835 60240835 + Translation_Start_Site SNP T T C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr5:60240835T>C ENST00000426742.2 - 0 43 ERCC8_ENST00000265038.5_Start_Codon_SNP_p.M1V|ERCC8_ENST00000543101.1_De_novo_Start_OutOfFrame Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) AACCCCAGCATATCGTGTCCT 0.557000 5 87 0 0 1 0 0 OXER1 165140 broad.mit.edu 37 2 42990174 42990174 + Silent SNP G G A rs145580414 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:42990174G>A ENST00000378661.2 - 1 1227 c.1146C>T c.(1144-1146)gaC>gaT p.D382D NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 382 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 AGGAGCTCTCGTCGCTCACTG 0.667000 37 66 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131534588 131534588 + Missense_Mutation SNP T T C TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr5:131534588T>C ENST00000401867.1 - 12 1857 c.1289A>G c.(1288-1290)cAc>cGc p.H430R P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R|P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 430 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GAAGTCGAAGTGCGGTTCATA 0.483000 4 78 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225611758 225611758 + Missense_Mutation SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:225611758G>A ENST00000338179.2 - 2 145 c.20C>T c.(19-21)gCc>gTc p.A7V LBR_ENST00000272163.4_Missense_Mutation_p.A7V NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 7 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTCACCATCGGCAAATTTCCT 0.373000 6 625 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 8 99 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 67 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131767807 131767807 + Missense_Mutation SNP C C G TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr9:131767807C>G ENST00000372577.2 + 40 4756 c.4735C>G c.(4735-4737)Cag>Gag p.Q1579E NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1579 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCTGCTGGATCAGGTACTGCC 0.577000 4 220 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 129 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 502 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 7 100 --- --- --- --- CCDC150 284992 broad.mit.edu 37 2 197531519 197531519 + Frame_Shift_Del DEL A A - rs75642251 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr2:197531519delA ENST00000389175.4 + 7 974 c.839delA c.(838-840)cafs p.Q280fs CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 280 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCCCAGGAACAAAAAAAAAAA 0.373 7 42 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - AA rs141435934 TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr11:66321927_66321928insAA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 3 4 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 9 667 --- --- --- --- VPS36 51028 broad.mit.edu 37 13 52990060 52990061 + Splice_Site INS - - A TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr13:52990060_52990061insA ENST00000378060.4 - 14 1095 c.e14-2 NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) AGCAGCAACCTAAAAAAAAACA 0.396 9 247 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29556251 29556252 + Frame_Shift_Ins INS - - T TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr17:29556251_29556252insT ENST00000358273.4 + 21 3001_3002 c.2618_2619insT c.(2617-2619)caafs p.Q873fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q873fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 873 R -> C (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTCAGTGAACGTAAGGGTTCTA 0.500 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 83 34 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-SQ-A6I6-01A-11D-A35I-08 TCGA-SQ-A6I6-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87a58b14-0399-402c-bd38-486ace20b825 a328dc21-5dac-49c9-b491-f30daac020b9 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 8 189 --- --- --- ---