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 SCMH1 22955 broad.mit.edu 37 1 41494399 41494399 + Splice_Site SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:41494399C>A ENST00000402904.2 - 15 2083 c.e15-1 SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000326197.7_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CGGTCCGACCCTGCAGGACAG 0.597 4 81 --- --- --- --- FCGR2B 2213 broad.mit.edu 37 1 161647303 161647303 + Missense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:161647303C>A ENST00000367962.4 + 8 1020 c.893C>A c.(892-894)cCg>cAg p.P298Q FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P298Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 298 immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCATGCACCCGGATGCTCTG 0.468 T ? ALL 4 185 --- --- --- --- ASAP2 8853 broad.mit.edu 37 2 9496433 9496433 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr2:9496433G>T ENST00000281419.3 + 14 1626 c.1286G>T c.(1285-1287)aGg>aTg p.R429M ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 429 Arf-GAP. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GAAGTGCAGAGGATGACGGGC 0.493 3 42 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179451941 179451941 + Missense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr2:179451941C>A ENST00000589042.1 - 307 64221 c.63997G>T c.(63997-63999)Ggg>Tgg p.G21333W TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN_ENST00000591111.1_Missense_Mutation_p.G19692W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19692 Ig-like 113. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(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) TACTCATTCCCAGGGACAAGA 0.453 4 157 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220501531 220501531 + Missense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr2:220501531C>A ENST00000358055.3 + 16 2982 c.2470C>A c.(2470-2472)Cag>Aag p.Q824K SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 824 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTTTCACCCAGGAGATCTT 0.577 4 192 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430154 51430154 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr3:51430154G>T ENST00000323686.4 + 1 1424 c.1324G>T c.(1324-1326)Ggg>Tgg p.G442W NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 442 RRM 3. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGACCGCTTTGGGAGCATTCG 0.577 4 132 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183667559 183667559 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr3:183667559C>T ENST00000334444.6 - 22 3449 c.3209G>A c.(3208-3210)gGg>gAg p.G1070E ABCC5_ENST00000265586.6_Intron NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1070 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAACTCCTGCCCTTTATTGTA 0.562 11 35 --- --- --- --- RAP1GDS1 5910 broad.mit.edu 37 4 99300221 99300221 + Missense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr4:99300221C>A ENST00000408927.3 + 5 528 c.415C>A c.(415-417)Cat>Aat p.H139N RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 139 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGTAATTGACCATTTAAGGTC 0.378 T NUP98 T-ALL 4 119 --- --- --- --- TCF21 6943 broad.mit.edu 37 6 134212927 134212927 + Missense_Mutation SNP C C G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr6:134212927C>G ENST00000367882.4 + 2 787 c.527C>G c.(526-528)aCc>aGc p.T176S RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 176 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TTATGTGGAACCACCGCGTCC 0.657 5 41 --- --- --- --- HDAC9 9734 broad.mit.edu 37 7 18687446 18687446 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr7:18687446G>A ENST00000406451.4 + 10 1215 c.1065G>A c.(1063-1065)acG>acA p.T355T HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGTGTGAGACGCAGACGCTTA 0.493 5 12 --- --- --- --- DYNC1I1 1780 broad.mit.edu 37 7 95705500 95705500 + Silent SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr7:95705500T>C ENST00000324972.6 + 15 1885 c.1692T>C c.(1690-1692)aaT>aaC p.N564N DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 564 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACCTCAACAATGACACCGAGG 0.642 OREG0018174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 --- --- --- --- ADAM18 8749 broad.mit.edu 37 8 39525629 39525629 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr8:39525629G>T ENST00000265707.5 + 14 1484 c.1439G>T c.(1438-1440)gGc>gTc p.G480V ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GCATTGAATGGCCGTTTGTGC 0.408 52 203 --- --- --- --- ADAM18 8749 broad.mit.edu 37 8 39525630 39525630 + Silent SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr8:39525630C>T ENST00000265707.5 + 14 1485 c.1440C>T c.(1438-1440)ggC>ggT p.G480G ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTGAATGGCCGTTTGTGCA 0.403 55 201 --- --- --- --- ZNF488 118738 broad.mit.edu 37 10 48370598 48370598 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr10:48370598G>T ENST00000395702.2 + 2 293 c.66G>T c.(64-66)aaG>aaT p.K22N ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CAGCTGGGAAGGGAGCCCCGT 0.622 4 112 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123843719 123843719 + Silent SNP A A T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr10:123843719A>T ENST00000369005.1 + 4 2044 c.1704A>T c.(1702-1704)ggA>ggT p.G568G TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 568 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTAAAGAAGGAAGCAGATCAC 0.592 13 27 --- --- --- --- OR2AG2 338755 broad.mit.edu 37 11 6789258 6789258 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr11:6789258G>A ENST00000338569.2 - 1 1028 c.931C>T c.(931-933)Ctg>Ttg p.L311L NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATGTGCCAGCAGTATGTAT 0.483 3 79 --- --- --- --- ARHGEF17 9828 broad.mit.edu 37 11 73078754 73078754 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr11:73078754G>T ENST00000263674.3 + 21 6471 c.6121G>T c.(6121-6123)Ggg>Tgg p.G2041W NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2041 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACTCAGCAGTGGGGGCGGCAG 0.647 4 191 --- --- --- --- PCF11 51585 broad.mit.edu 37 11 82877716 82877716 + Missense_Mutation SNP T T A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr11:82877716T>A ENST00000298281.4 + 5 2229 c.1777T>A c.(1777-1779)Tct>Act p.S593T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 593 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAGTTCCAAGTCTGCCAAAAG 0.363 24 72 --- --- --- --- TUBA1C 84790 broad.mit.edu 37 12 49666942 49666942 + Missense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr12:49666942C>A ENST00000301072.6 + 4 1557 c.1282C>A c.(1282-1284)Ctt>Att p.L428I TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 428 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 CATGGCTGCCCTTGAGAAGGA 0.512 4 180 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62212807 62212807 + Nonsense_Mutation SNP C C A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr15:62212807C>A ENST00000261517.5 - 56 7175 c.7102G>T c.(7102-7104)Gga>Tga p.G2368* VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368* NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2368 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAATCATCTCCTGGCAGCAAA 0.289 3 54 --- --- --- --- KRTAP9-9 81870 broad.mit.edu 37 17 39412068 39412068 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:39412068G>A ENST00000394008.1 + 1 433 c.431G>A c.(430-432)tGc>tAc p.C144Y NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 144 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CGCCCCGCCTGCTGTGAGACC 0.612 7 251 --- --- --- --- NKIRAS2 28511 broad.mit.edu 37 17 40175835 40175835 + Missense_Mutation SNP A A G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:40175835A>G ENST00000307641.5 + 4 1121 c.500A>G c.(499-501)aAg>aGg p.K167R NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 167 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) TTGGCCAGCAAGATGACGCAA 0.612 5 71 --- --- --- --- ARSG 22901 broad.mit.edu 37 17 66364821 66364821 + Silent SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:66364821G>T ENST00000448504.2 + 7 1633 c.837G>T c.(835-837)ctG>ctT p.L279L ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L115L NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 279 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TGGACAGTCTGGTGGGCCAGA 0.542 4 185 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76503647 76503647 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:76503647G>T ENST00000389840.5 - 28 4589 c.4465C>A c.(4465-4467)Cag>Aag p.Q1489K DNAH17_ENST00000585328.1_Missense_Mutation_p.Q1490K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGGTTCGCTGGACCTCAAAC 0.597 3 26 --- --- --- --- EPG5 57724 broad.mit.edu 37 18 43497668 43497668 + Missense_Mutation SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr18:43497668T>C ENST00000282041.5 - 17 3249 c.3215A>G c.(3214-3216)cAg>cGg p.Q1072R NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1072 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AAGGTAATACTGGCAAGGGTA 0.428 45 126 --- --- --- --- TRIP10 9322 broad.mit.edu 37 19 6750305 6750305 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:6750305G>A ENST00000600428.1 + 12 1552 c.906G>A c.(904-906)gcG>gcA p.A302A TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 466 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CCTCCCAGGCGTGGCTGGCAG 0.667 30 145 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31024752 31024752 + Missense_Mutation SNP T T G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr20:31024752T>G ENST00000375687.4 + 13 4661 c.4237T>G c.(4237-4239)Tta>Gta p.L1413V ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1413 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTCTGGAAATTACCCCGAGA 0.542 """F, N, Mis""" """MDS, CMML""" 3 162 --- --- --- --- EMILIN3 90187 broad.mit.edu 37 20 39991280 39991280 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr20:39991280C>T ENST00000332312.3 - 4 1121 c.929G>A c.(928-930)cGa>cAa p.R310Q NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 310 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCCCAGAGTCGGTGCAGCCG 0.667 3 19 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44969495 44969495 + Splice_Site SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chrX:44969495G>A ENST00000377967.4 + 28 4217 c.e28+1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATTTACATTAGTAAGTCAAAT 0.378 """D, N, F, S""" """renal, oesophageal SCC, MM""" 28 33 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16265833 16265834 + Frame_Shift_Del DEL GA GA - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:16265833_16265834delGA ENST00000375759.3 + 15 11110_11111 c.10906_10907delGA c.(10906-10908)gagfs p.E3636fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3636 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGAGTTCTCTGAGAGTCACCTG 0.584 80 347 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44581708 44581708 + Frame_Shift_Del DEL C C - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr22:44581708delC ENST00000444313.3 + 4 584 c.100delC c.(100-102)ccafs p.P35fs PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR NM_022141.5 NP_071424.1 Q9HBI0 PARVG_HUMAN parvin, gamma cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GAAATACCTGCCACCCACTTC 0.587 10 56 --- --- --- ---