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 HCLS1 3059 broad.mit.edu 37 3 121351231 121351231 + Missense_Mutation SNP G G C TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr3:121351231G>C ENST00000314583.3 - 12 1279 c.1188C>G c.(1186-1188)gaC>gaG p.D396E HCLS1_ENST00000428394.2_Missense_Mutation_p.D359E|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 396 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTCCTCATAGTCCCCCTCTG 0.557000 8 380 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527606 23527606 + Silent SNP C C A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr5:23527606C>A ENST00000296682.3 + 11 2591 c.2409C>A c.(2407-2409)ccC>ccA p.P803P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 803 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGAGAAGCCCTATGTCTGCA 0.567000 HNSCC(3;0.000094) 6 209 8.12818e-05 8.12818e-05 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 39 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 3 51 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71490028 71490028 + Missense_Mutation SNP G G C TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr5:71490028G>C ENST00000296755.7 + 5 1144 c.846G>C c.(844-846)atG>atC p.M282I NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 282 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTTTCAATATGCTCATCAATG 0.502000 12 121 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104353429 104353429 + Nonsense_Mutation SNP C C T TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr10:104353429C>T ENST00000369902.3 + 5 800 c.634C>T c.(634-636)Cag>Tag p.Q212* SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q212*|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q212* NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 212 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding p.Q212K(1) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) ACACTCAGCCCAGCAGTGGAA 0.617000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 18 80 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 49 84 0 0 1 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652269 45652269 + RNA SNP G G A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr10:45652269G>A ENST00000427229.2 + 0 1783 CACCCTTGGCGGAAAGAACAC 0.473000 3 43 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr16:90161753T>C ENST00000564451.1 + 0 1106 TUBB8P7_ENST00000567960.1_RNA CAGACAGGATTATAAACACAT 0.562000 4 116 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183111704 183111704 + Missense_Mutation SNP G G A rs79826197 by1000genomes TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr1:183111704G>A ENST00000258341.4 + 28 4866 c.4609G>A c.(4609-4611)Gag>Aag p.E1537K NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1537 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAGCTAAACGAGATTGAAGG 0.448000 3 66 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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 p.Q269Q(15) 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 gctgctgctgctgttgttgtt 0.537000 3 26 0 0 1 0 0 RETN 56729 broad.mit.edu 37 19 7734285 7734285 + Missense_Mutation SNP G G A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr19:7734285G>A ENST00000221515.2 + 2 161 c.73G>A c.(73-75)Gaa>Aaa p.E25K RETN_ENST00000381324.2_Missense_Mutation_p.E25K NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 25 hormone activity ovary(1) 1 GTGCTCCATGGAAGAAGCCAT 0.587000 11 175 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29623222 29623222 + Missense_Mutation SNP G G A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr20:29623222G>A ENST00000278882.3 + 3 414 c.34G>A c.(34-36)Gtc>Atc p.V12I FRG1B_ENST00000439954.2_Missense_Mutation_p.G13D|FRG1B_ENST00000358464.4_Missense_Mutation_p.V12I endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTCGACAATGGTCTTTTTACC 0.413000 31 813 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 8 99 --- --- --- --- DNMT3A 1788 broad.mit.edu 37 2 25463196 25463197 + Frame_Shift_Del DEL TT TT - TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr2:25463196_25463197delTT ENST00000264709.3 - 19 2633_2634 c.2296_2297delAA c.(2296-2298)gfs p.K766fs DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.K766fs|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.K543fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.K577fs NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 766 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGTCCCTCTTGTCACTAACG 0.545 """Mis, F, N, S""" AML 37 218 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 2 4 --- --- --- --- DLX2 1746 broad.mit.edu 37 2 172967128 172967129 + In_Frame_Ins INS - - GCT TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr2:172967128_172967129insGCT ENST00000234198.4 - 1 499_500 c.138_139insAGC c.(136-141)agtcca>agAGCtcca p.46_46S>RA DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGCTTGTGGAGgctgctgctgc 0.738 3 6 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 7 205 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9113009 9113011 + In_Frame_Del DEL GCA GCA - rs72509739 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr11:9113009_9113011delGCA ENST00000457346.2 - 1 139_141 c.65_67delTGC c.(64-69)ccg>c p.LP22del SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del|SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 22 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) agcagtggcggcagcagcagcag 0.788 2 4 --- --- --- --- SF3B2 10992 broad.mit.edu 37 11 65836145 65836146 + Splice_Site INS - - A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr11:65836145_65836146insA ENST00000528302.1 + 21 2620_2621 c.2565_splice c.e21-1 p.K856_splice RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Splice_Site_p.K873_splice Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 873 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCTATACAGCAAAAAAAACGG 0.515 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 94 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 7 212 --- --- --- --- RP11-123M6.2 0 broad.mit.edu 37 14 101302257 101302258 + RNA INS - - A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr14:101302257_101302258insA ENST00000554041.1 - 0 143 CGCCGTGGCCCTGAGAGTCCTG 0.658 2 4 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 457 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 5 6 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 2 4 --- --- --- ---