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 TPTE 7179 broad.mit.edu 37 21 10970018 10970018 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr21:10970018G>A ENST00000298232.7 - 6 477 c.110C>T c.(109-111)gCg>gTg p.A37V TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 37 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTTCTTTCGCAGGTGCCTC 0.413000 13 704 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468618 44468618 + Silent SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:44468618A>G ENST00000372310.3 - 6 795 c.630T>C c.(628-630)ttT>ttC p.F210F SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000372307.3_Silent_p.F145F NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 283 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCACCTCCCCAAAGTTCCCAA 0.592000 142 800 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151671678 151671678 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:151671678G>A ENST00000402676.2 + 4 2392 c.2152G>A c.(2152-2154)Gga>Aga p.G718R AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 718 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TGATGAGGCCGGAAAAGACAA 0.552000 5 739 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134873067 134873067 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:134873067G>A ENST00000398015.3 + 6 1741 c.1371G>A c.(1369-1371)ccG>ccA p.P457P EPHB1_ENST00000493838.1_Silent_p.P18P NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 457 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGCCACAGCCGGAGCAGCCCA 0.557000 6 918 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 413 0 0 1 0 0 CBWD3 445571 broad.mit.edu 37 9 70871889 70871889 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:70871889C>T ENST00000360171.6 + 5 1034 c.483C>T c.(481-483)taC>taT p.Y161Y CBWD3_ENST00000377342.5_Intron NM_201453.2 NP_958861.2 Q5JTY5 CBWD3_HUMAN COBW domain containing 3 161 ATP binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) GTGATATTTACCTTGATGGTA 0.294000 6 643 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528640 157528640 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:157528640G>A ENST00000346085.5 + 20 6366 c.6365G>A c.(6364-6366)cGc>cAc p.R2122H ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109H NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2109 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTTGGGGATCGCAAAAACCCA 0.493000 7 1181 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 21 492 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860592 43860592 + Silent SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:43860592A>G ENST00000389420.3 - 9 1229 c.1230T>C c.(1228-1230)ggT>ggC p.G410G ADAMTS20_ENST00000553158.1_Silent_p.G410G NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 410 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATGTTGAACACCAAGTCTAA 0.294000 22 201 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 632 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690163 195690163 + RNA SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:195690163A>G ENST00000427841.1 - 0 2325 NR_003264.2 GCTATTATACATAATTACAAA 0.458000 26 78 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16279069 16279069 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:16279069C>T ENST00000259727.4 + 6 716 c.602C>T c.(601-603)gCc>gTc p.A201V NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 201 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) CAGCTGAGTGCCGTCATTGAG 0.592000 5 419 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 13 150 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181690939 181690939 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:181690939C>T ENST00000526775.1 + 16 2167 c.2002C>T c.(2002-2004)Cgc>Tgc p.R668C CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 668 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R668C(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAATGGGATCCGCTCCCAGGG 0.507000 150 689 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20169960 20169960 + RNA SNP G G A rs150674714 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:20169960G>A ENST00000338912.5 - 0 311 CAGATCTCAGGCTGCTTAGCT 0.527000 10 1031 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575286 136575286 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:136575286G>A ENST00000264162.2 - 6 1342 c.1332C>T c.(1330-1332)tgC>tgT p.C444C NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 444 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCCGGAGGCCGCAAAGCAGGG 0.647000 8 491 0 0 1 0 0 TAS2R19 259294 broad.mit.edu 37 12 11174543 11174543 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:11174543G>A ENST00000390673.2 - 1 676 c.628C>T c.(628-630)Cgg>Tgg p.R210W TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 210 sensory perception of taste integral to membrane G-protein coupled receptor activity p.R210W(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTATGGAGCCGCATCTTCTTG 0.403000 6 750 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64685207 64685207 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:64685207C>T ENST00000357395.3 + 109 19864 c.8720C>T c.(8719-8721)gCc>gTc p.A2907V SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6522 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGGGGACTGGCCGGTATCACA 0.527000 5 197 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 4 110 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112694261 112694261 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:112694261G>A ENST00000448454.2 + 7 455 c.455G>A c.(454-456)cGa>cAa p.R152Q PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 CTCTGTTCACGAACAGCAGAA 0.537000 127 560 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954349 30954349 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:30954349A>G ENST00000376296.3 + 2 638 c.397A>G c.(397-399)Agc>Ggc p.S133G MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 133 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGTGGGGCCAGCACAGCCAC 0.612000 7 1332 0 0 1 0 0 GTPBP8 29083 broad.mit.edu 37 3 112710121 112710121 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:112710121G>A ENST00000383677.3 + 1 290 c.275G>A c.(274-276)cGc>cAc p.R92H GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 92 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 GAACGGAACCGCATCGACTAC 0.647000 5 384 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514269 113514269 + Missense_Mutation SNP A A C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:113514269A>C ENST00000541405.1 - 4 707 c.184T>G c.(184-186)Ttg>Gtg p.L62V CKAP2L_ENST00000302450.6_Missense_Mutation_p.L227V Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 227 N -> S (in dbSNP:rs17042344). centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTTTTGCCCAAGGCTTGTTTA 0.373000 25 414 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26257554 26257554 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:26257554T>C ENST00000264710.4 + 1 576 c.77T>C c.(76-78)cTt>cCt p.L26P NM_016131.4 NP_057215.3 P61026 RAB10_HUMAN RAB10, member RAS oncogene family 26 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGCGTCCTTTTTCGTTTT 0.537000 5 616 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733503 56733503 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:56733503T>C ENST00000587340.1 - 7 1627 c.932A>G c.(931-933)gAg>gGg p.E311G ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 311 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCCTTGAGGCTCTTCTTGGGA 0.547000 9 592 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 6 305 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8751522 8751522 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:8751522G>A ENST00000534127.1 - 6 1700 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000357665.1_Missense_Mutation_p.R439C NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 439 Interaction with ABL1. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CGGTGACCACGCATGTCCTTC 0.572000 10 1939 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30768893 30768893 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:30768893C>T ENST00000543610.1 - 9 1861 c.900G>A c.(898-900)cgG>cgA p.R300R C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 300 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TGGCCTTGAGCCGCTCCTCCA 0.607000 5 687 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67680252 67680252 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:67680252G>A ENST00000433211.1 - 18 2698 c.2524C>T c.(2524-2526)Cgg>Tgg p.R842W CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_Missense_Mutation_p.R181W NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 842 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ACTGGGTGCCGGGGCCCAGCA 0.478000 8 636 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107620844 107620844 + Nonsense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:107620844G>A ENST00000374736.3 - 7 1073 c.679C>T c.(679-681)Cga>Tga p.R227* ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227* NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 227 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CGAAGTACTCGCTCTGCTGCA 0.468000 90 437 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61654852 61654852 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:61654852G>A ENST00000423902.2 + 2 1340 c.861G>A c.(859-861)ccG>ccA p.P287P CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 287 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.P287P(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTGTTAGGCCGCAAACCCTTA 0.512000 7 748 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755612 39755612 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr21:39755612G>A ENST00000442448.1 - 11 1373 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 392 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TAGGCGTAGCGCTTCCCATGG 0.572000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 17 606 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 8 386 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65299135 65299135 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:65299135G>A ENST00000524944.1 + 8 1130 c.1097G>A c.(1096-1098)cGc>cAc p.R366H SCYL1_ENST00000527630.1_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 366 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 CGGGCCATGCGCATCCGCCTC 0.617000 5 230 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881586 52881586 + Missense_Mutation SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:52881586C>G ENST00000330722.6 - 9 1681 c.1613G>C c.(1612-1614)gGc>gCc p.G538A NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 538 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCTGAGGCCACCCCCAAT 0.577000 5 569 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555377 182555377 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:182555377C>A ENST00000367559.3 - 2 818 c.565G>T c.(565-567)Gat>Tat p.D189Y RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 189 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CCCATCTCATCAAGGAGAATC 0.502000 5 470 1.024e-07 1.07293e-07 1 1 0 ITGA4 3676 broad.mit.edu 37 2 182360534 182360534 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:182360534C>T ENST00000397033.2 + 14 1840 c.1410C>T c.(1408-1410)gaC>gaT p.D470D NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 470 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAATTGTTGACGCTTCTTTAA 0.358000 54 339 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69063478 69063478 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:69063478G>A ENST00000535407.1 + 2 1030 c.387G>A c.(385-387)cgG>cgA p.R129R MYEOV_ENST00000308946.3_Silent_p.R187R|MYEOV_ENST00000441339.2_Silent_p.R187R Q96EZ4 MYEOV_HUMAN myeloma overexpressed 187 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TGCATGGGCGGCATGGGCTCT 0.627000 6 814 0 0 1 0 0 IGHA1 0 broad.mit.edu 37 14 106173748 106173748 + RNA SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:106173748G>A ENST00000390547.2 - 0 818 GGTACTTCTCGCGGGGCAGCT 0.662000 20 356 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044053 179044053 + Splice_Site SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:179044053G>A ENST00000356731.5 - 9 2651 c.1117_splice c.e9+1 p.Y372_splice HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 372 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 TTTGGCTACCGTAAGCACCAC 0.373000 6 520 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99126559 99126559 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:99126559G>A ENST00000370992.4 - 27 3266 c.3155C>T c.(3154-3156)gCc>gTc p.A1052V RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1052 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) ctcctccACGGCAGCCTGGCT 0.642000 7 1358 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34773105 34773105 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:34773105G>A ENST00000338074.2 + 7 794 c.633G>A c.(631-633)acG>acA p.T211T EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 211 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CCTTTGTCACGCATGCCCTAC 0.612000 5 422 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661276 22661276 + RNA SNP T T C rs2329972 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:22661276T>C ENST00000426066.1 + 0 360 NR_027293.1 GATGTACGTCTGCGTTGAGAT 0.488000 8 328 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 5 304 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811799 7811799 + Silent SNP A A G rs138805744 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:7811799A>G ENST00000381059.3 + 3 582 c.363A>G c.(361-363)gaA>gaG p.E121E VCX_ENST00000341408.4_Intron NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 121 10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GCGAGGTGGAAGAACCACTGA 0.627000 5 975 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090851 91090851 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:91090851G>A ENST00000373094.1 + 1 1193 c.348G>A c.(346-348)ccG>ccA p.P116P PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000406881.1_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000504220.1_Silent_p.P116P|PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 116 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCATTTTGCCGGATGAAATAT 0.393000 5 556 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:178952072A>T ENST00000263967.3 + 21 3284 c.3127A>T c.(3127-3129)Atg>Ttg p.M1043L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043V(22) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 160 318 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3287312 3287312 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:3287312C>T ENST00000436008.2 - 7 1789 c.1327G>A c.(1327-1329)Ggg>Agg p.G443R SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 443 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) TGGTGGATCCCGTACCCCGTC 0.632000 32 137 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171209 214171209 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:214171209G>A ENST00000366958.4 + 2 1939 c.1331G>A c.(1330-1332)cGc>cAc p.R444H PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 444 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTGGTTGTCCGCAAAAACTCC 0.627000 7 796 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123428605 123428605 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:123428605G>A ENST00000360772.3 - 15 2318 c.1940C>T c.(1939-1941)tCa>tTa p.S647L MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L Q15746 MYLK_HUMAN myosin light chain kinase 647 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGACAGACCTGACACTTGGAC 0.537000 19 2011 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8582937 8582937 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:8582937C>T ENST00000382487.4 + 1 645 c.228C>T c.(226-228)ccC>ccT p.P76P GPR78_ENST00000509216.1_Intron NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 76 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CGTCGGCGCCCGGCGCATGCC 0.687000 15 85 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:72685542G>A ENST00000425256.1 - 0 116 NR_002164.1 ACGTTACCATGACAAAAGCAG 0.463000 7 839 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901827 166901827 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:166901827G>A ENST00000423058.2 - 10 1405 c.1388C>T c.(1387-1389)aCg>aTg p.T463M AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 463 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCAGTTGCCGTTGCTGCCTG 0.443000 6 496 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110036119 110036119 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:110036119G>A ENST00000453089.2 + 5 3097 c.2216G>A c.(2215-2217)cGc>cAc p.R739H ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 770 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CCTTATTCCCGCCAGGAAGGC 0.552000 10 482 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 387 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 11 808 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 5 713 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 5 278 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871049 170871049 + Silent SNP G G A rs10592951 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:170871049G>A ENST00000392092.2 + 3 504 c.225G>A c.(223-225)caG>caA p.Q75Q TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 75 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcaacagcagcagcagc 0.567000 8 318 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176687001 176687001 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:176687001C>T ENST00000439151.2 + 14 5023 c.4978C>T c.(4978-4980)Cgc>Tgc p.R1660C NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1660 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.R1660C(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCGGTTGATGCGCTGTGTCCG 0.403000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 593 0 0 1 0 0 CXADRP3 0 broad.mit.edu 37 18 14478398 14478398 + RNA SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr18:14478398G>A ENST00000581457.1 - 0 1510 NR_024076.1 TTCTGGCAGCGGACGTACGGC 0.453000 9 70 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1585571 1585571 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:1585571G>A ENST00000572621.1 - 3 551 c.286C>T c.(286-288)Ccc>Tcc p.P96S PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 96 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ACTGCGTGGGGCATGTACTTT 0.507000 5 461 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 7 906 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37007204 37007204 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:37007204G>A ENST00000418263.1 + 2 490 c.140G>A c.(139-141)aGc>aAc p.S47N CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N|CCNA1_ENST00000255465.4_Missense_Mutation_p.S48N|CCNA1_ENST00000463403.1_3'UTR NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 48 EAMHC -> SS (in Ref. 2; AAV38384). cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) ATGCACTGCAGCAACCCCAAG 0.602000 11 516 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121736099 121736099 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:121736099G>A ENST00000452319.1 + 10 1518 c.1458G>A c.(1456-1458)gcG>gcA p.A486A GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 486 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTTCAAGGCGCAGTACATGC 0.642000 5 585 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211512 78211512 + RNA SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:78211512C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GTTCCTTGCTCAGGACACTCA 0.557000 7 903 9.31168e-06 9.56082e-06 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:100681963T>C ENST00000306151.4 + 3 7330 c.7266T>C c.(7264-7266)gtT>gtC p.V2422V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2422 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCTGTTGACACCAGCA 0.512000 12 2381 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 7 318 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187485 152187485 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:152187485C>T ENST00000368801.2 - 3 6695 c.6620G>A c.(6619-6621)cGt>cAt p.R2207H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2207 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGAAGAACGACCTGAGCC 0.597000 27 2365 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 14 51 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778541 110778541 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:110778541C>T ENST00000395494.2 + 13 2321 c.1758C>T c.(1756-1758)tgC>tgT p.C586C ATP2A2_ENST00000539276.2_Silent_p.C613C|ATP2A2_ENST00000308664.6_Silent_p.C613C P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 613 Interacts with HAX1. ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGAAGCTGTGCCGGCAAGCAG 0.572000 5 553 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66988979 66988979 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:66988979C>T ENST00000276570.5 + 4 491 c.204C>T c.(202-204)caC>caT p.H68H DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 68 J. protein folding membrane heat shock protein binding|unfolded protein binding p.H68H(1) endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) ACAACGCCCACGCAATACTTA 0.428000 7 710 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 9 485 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75775738 75775738 + Missense_Mutation SNP A A T rs111698970 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:75775738A>T ENST00000376911.1 + 5 1286 c.404A>T c.(403-405)gAt>gTt p.D135V ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V P04083 ANXA1_HUMAN annexin A1 135 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) ACTGATGAAGATACTCTAATT 0.358000 135 624 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140257259 140257259 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:140257259G>A ENST00000398631.2 + 1 2202 c.2202G>A c.(2200-2202)ccG>ccA p.P734P PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCCGGGCAAGCCCA 0.682000 54 177 0 0 1 0 0 RRAGD 58528 broad.mit.edu 37 6 90087442 90087442 + Missense_Mutation SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:90087442C>G ENST00000369415.4 - 5 1126 c.850G>C c.(850-852)Gag>Cag p.E284Q RRAGD_ENST00000359203.2_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 284 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CAGCAGAGCTCATAGGTTTGC 0.353000 62 347 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208306 58208306 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:58208306C>T ENST00000377918.3 + 1 1652 c.1626C>T c.(1624-1626)ttC>ttT p.F542F NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 542 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCTTTAACTTCGAGCAGACCA 0.582000 10 309 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3015458 3015458 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:3015458G>A ENST00000398052.4 + 8 987 c.644G>A c.(643-645)tGc>tAc p.C215Y GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y|GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 215 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATGTATGCCTGCAAAAAGCTA 0.393000 7 922 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G G A rs113070757 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:2039779G>A ENST00000382203.1 + 4 878 c.669G>A c.(667-669)caG>caA p.Q223Q SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.642000 4 130 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733491 56733491 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:56733491T>C ENST00000587340.1 - 7 1639 c.944A>G c.(943-945)gAa>gGa p.E315G ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 315 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGGTGTGGCTTCTCCTTGAGG 0.557000 8 567 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q 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 8 268 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38451657 38451657 + Missense_Mutation SNP G G A rs4135016 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:38451657G>A ENST00000209728.4 + 8 1604 c.1133G>A c.(1132-1134)cGc>cAc p.R378H NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 378 R -> H (in dbSNP:rs4135016). cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TTCTGTGCCCGCAAAGTCTCT 0.403000 6 806 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604645 31604645 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:31604645C>T ENST00000376033.2 + 28 6304 c.6070C>T c.(6070-6072)Cgg>Tgg p.R2024W PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2024 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding p.R2024W(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCTGGCTGTGCGGCCCCCACC 0.672000 7 963 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106053517 106053517 + RNA SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:106053517G>A ENST00000390539.2 - 0 779 GGTACTTCTCGCGGGGCAGCT 0.647000 19 107 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 5 48 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120219 64120219 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:64120219C>T ENST00000356786.5 + 20 3404 c.3360C>T c.(3358-3360)caC>caT p.H1120H CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1120 microtubule cytoskeleton organization cytoplasm microtubule binding p.H1120H(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATCCCAGGCACGAGCAGCTGC 0.677000 36 232 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607330 110607330 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:110607330G>A ENST00000369792.4 - 2 560 c.473C>T c.(472-474)aCg>aTg p.T158M NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GCTGAAGGTCGTGCGGTTACG 0.597000 112 349 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242695366 242695366 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:242695366G>A ENST00000321264.4 + 9 1452 c.1243G>A c.(1243-1245)Gtg>Atg p.V415M D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 415 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CTACGACATCGTGACTGACCT 0.687000 81 407 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36960745 36960745 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:36960745G>A ENST00000300105.6 - 4 1606 c.625C>T c.(625-627)Cgg>Tgg p.R209W NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 209 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GCCGTGGCCCGCAGCTGTTTG 0.667000 68 1378 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25572669 25572669 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr18:25572669C>T ENST00000269141.3 - 9 1717 c.1294G>A c.(1294-1296)Gcc>Acc p.A432T CDH2_ENST00000399380.3_Missense_Mutation_p.A401T NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 432 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTCTGGATGGCGAACCGTCCA 0.532000 62 319 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673468 141673468 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:141673468G>A ENST00000547270.1 - 1 105 c.22C>T c.(22-24)Cgc>Tgc p.R8C NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 8 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GACACAGTGCGGATGCGAGTT 0.443000 59 518 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020051 56020051 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:56020051G>A ENST00000303059.3 + 1 376 c.376G>A c.(376-378)Gga>Aga p.G126R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTCATTTATCGGATGTGCAAC 0.363000 5 777 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 6 164 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277587 152277587 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:152277587C>T ENST00000368799.1 - 3 9810 c.9775G>A c.(9775-9777)Gaa>Aaa p.E3259K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3259 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGTCTTCGTGATGGGAC 0.582000 Ichthyosis 288 2136 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985688 34985688 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:34985688G>A ENST00000360359.3 + 11 2000 c.1862G>A c.(1861-1863)cGc>cAc p.R621H ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 621 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AAACTCAGCCGCAGCTTGTCC 0.597000 9 1022 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|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, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 8 344 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 6 154 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871046 170871046 + Silent SNP A A G rs10592951 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:170871046A>G ENST00000392092.2 + 3 501 c.222A>G c.(220-222)caA>caG p.Q74Q TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 74 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcaacagcagcagc 0.567000 8 328 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 10 608 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10621878 10621878 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:10621878C>T ENST00000254958.5 - 24 3446 c.2931G>A c.(2929-2931)gaG>gaA p.E977E JAG1_ENST00000423891.2_Silent_p.E818E NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 977 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TGCAAATGTGCTCCGTAGTAA 0.408000 Alagille Syndrome 40 281 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984154 41984154 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:41984154C>T ENST00000333141.5 + 1 442 c.345C>T c.(343-345)taC>taT p.Y115Y NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 115 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 TCCACGTGTACGTGCTCAGAA 0.562000 67 399 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100780300 100780300 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:100780300G>A ENST00000223095.4 + 8 1263 c.1106G>A c.(1105-1107)cGc>cAc p.R369H SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 369 Reactive bond. angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GTCTCAGCCCGCATGGCCCCC 0.582000 5 621 0 0 1 0 0 PSMA2 5683 broad.mit.edu 37 7 42957275 42957275 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:42957275C>T ENST00000442788.1 - 8 618 c.603G>A c.(601-603)ggG>ggA p.G201G PSMA2_ENST00000223321.4_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G P25787 PSA2_HUMAN proteasome (prosome, macropain) subunit, alpha type, 2 201 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 CTGTCATTTGCCCTTCAAAGC 0.378000 5 335 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:72954797T>C ENST00000421285.3 + 11 1052 c.1052T>C c.(1051-1053)gTg>gCg p.V351A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 351 p.V351A(4) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCAGGAGGTGCAGAGAGTG 0.562000 9 705 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119595270 119595270 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:119595270G>A ENST00000264235.8 - 8 1881 c.899C>T c.(898-900)cCt>cTt p.P300L GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 300 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CTTAGTCCAAGGATGTGCCTT 0.333000 6 423 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30514571 30514571 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:30514571C>T ENST00000376621.3 - 11 2454 c.1484G>A c.(1483-1485)cGg>cAg p.R495Q NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 495 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CACATCATTCCGAGCCGCCTT 0.522000 7 474 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 336 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76811270 76811270 + Missense_Mutation SNP C C T rs112682717 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:76811270C>T ENST00000286719.7 - 5 613 c.257G>A c.(256-258)cGc>cAc p.R86H NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 86 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.R86H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGTGAATATGCGGGTCAGGAA 0.507000 5 417 0 0 1 0 0 ATRAID 51374 broad.mit.edu 37 2 27438520 27438520 + Missense_Mutation SNP A A C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:27438520A>C ENST00000380171.3 + 5 728 c.551A>C c.(550-552)aAc>aCc p.N184T ATRAID_ENST00000606999.1_Missense_Mutation_p.N129T|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T NM_080592.3 NP_542159.3 all-trans retinoic acid-induced differentiation factor CAACATGTCAACTGTCCTGGA 0.418000 9 683 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 693 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 5 387 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66479413 66479413 + Silent SNP T T C rs145686658 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:66479413T>C ENST00000359626.5 + 5 599 c.435T>C c.(433-435)acT>acC p.T145T NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 145 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.T145T(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GCCTACCAACTGAAAGTGCAG 0.428000 6 719 0 0 1 0 0 ZNF384 0 broad.mit.edu 37 12 6782390 6782390 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:6782390C>T ENST00000396795.1 - 6 1400 c.903G>A c.(901-903)caG>caA p.Q301Q ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396801.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000355772.4_Silent_p.Q246Q Q8TF68 ZN384_HUMAN zinc finger protein 384 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 ACCGGGTGTGCTGCTGAAGGT 0.542000 T """EWSR1, TAF15 """ ALL 4 159 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 9 897 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39421234 39421234 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:39421234G>A ENST00000221431.6 - 1 302 c.143C>T c.(142-144)gCg>gTg p.A48V MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 48 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCTCGCGCGCATACTCGTA 0.627000 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 700 0 0 1 0 0 PGAM5 192111 broad.mit.edu 37 12 133294121 133294121 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:133294121C>A ENST00000498926.2 + 3 525 c.467C>A c.(466-468)aCc>aAc p.T156N PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N NM_001170543.1|NM_001170544.1 NP_001164014.1|NP_001164015.1 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 156 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GCCATAGAGACCACCGATATC 0.632000 28 202 5.62743e-28 6.04063e-28 1 1 0 HAP1 9001 broad.mit.edu 37 17 39881124 39881124 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:39881124G>A ENST00000393939.2 - 10 1623 c.1614C>T c.(1612-1614)agC>agT p.S538S HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000310778.5_Silent_p.S615S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.S546S P54257 HAP1_HUMAN huntingtin-associated protein 1 615 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GGCCCAAGCCGCTGGCCTCCA 0.607000 7 1191 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751462 19751462 + Missense_Mutation SNP G G T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:19751462G>T ENST00000400113.3 - 4 765 c.661C>A c.(661-663)Cgt>Agt p.R221S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 221 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACGTGGGACGCTCGATGTCC 0.562000 8 917 1.12685e-05 1.15314e-05 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 6 327 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145435652 145435652 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:145435652G>A ENST00000511217.1 + 7 1483 c.1431G>A c.(1429-1431)cgG>cgA p.R477R SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R477R Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 477 R -> Q (in dbSNP:rs35165046). ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGATCCACGGCAAAGCCGTC 0.562000 6 872 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 8 47 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324513 62324513 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:62324513C>T ENST00000318100.4 + 30 3696 c.2869C>T c.(2869-2871)Cgg>Tgg p.R957W RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 957 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCAGTTTGTGCGGCCCCACCA 0.597000 6 835 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 6 218 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 353 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948584 7948584 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:7948584G>A ENST00000380183.4 + 7 1017 c.878G>A c.(877-879)gGc>gAc p.G293D ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 293 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GTGGATCACGGCATCCTCTCT 0.562000 5 631 0 0 1 0 0 NAA40 79829 broad.mit.edu 37 11 63721522 63721522 + Splice_Site SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:63721522G>A ENST00000377793.4 + 7 673 c.e7+1 NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site|NAA40_ENST00000539656.1_Splice_Site NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 AAGCGTTGCAGTAAGGAGCTG 0.512000 5 598 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10673457 10673457 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:10673457G>A ENST00000312962.6 - 4 368 c.349C>T c.(349-351)Cgg>Tgg p.R117W KRI1_ENST00000361821.5_Missense_Mutation_p.R113W|KRI1_ENST00000537964.1_Intron NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 117 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TACATGGGCCGCACTTTCTTC 0.557000 6 919 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832336 113832336 + Missense_Mutation SNP G G A rs142851873 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:113832336G>A ENST00000393197.2 + 3 576 c.155G>A c.(154-156)cGc>cAc p.R52H IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 52 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 GGCTTGGCCCGCACCAAGGTC 0.587000 6 589 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7559219 7559219 + Silent SNP G G A rs143012538 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:7559219G>A ENST00000313599.3 - 5 1053 c.996C>T c.(994-996)tcC>tcT p.S332S CD163L1_ENST00000396630.1_Silent_p.S332S|CD163L1_ENST00000416109.2_Silent_p.S342S Q9NR16 C163B_HUMAN CD163 molecule-like 1 332 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ATTCATTACCGGAGCAGGAGA 0.473000 6 436 0 0 1 0 0 EIF4EBP2 1979 broad.mit.edu 37 10 72179709 72179709 + Missense_Mutation SNP G G C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:72179709G>C ENST00000373218.4 + 2 208 c.185G>C c.(184-186)cGt>cCt p.R62P NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 62 negative regulation of translational initiation|translation eukaryotic initiation factor 4E binding large_intestine(1) 1 CTGTTGGATCGTCGCAATTCT 0.433000 63 398 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101592029 101592029 + Splice_Site SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:101592029G>A ENST00000335681.5 + 14 1677 c.1392_splice c.e14+1 p.P464_splice AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529_splice|AC016738.3_ENST00000439150.1_RNA NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 464 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCACCATGCCGGTAAGTGTGT 0.622000 6 502 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 148217 148217 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:148217G>A ENST00000399953.3 - 8 1252 c.850C>T c.(850-852)Cgg>Tgg p.R284W NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 284 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 TTGATCACCCGCACTAGGGCA 0.572000 6 413 0 0 1 0 0 RARRES3 5920 broad.mit.edu 37 11 63312120 63312120 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:63312120G>A ENST00000439013.2 + 3 199 c.146G>A c.(145-147)aGt>aAt p.S49N RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 49 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 GGCTCCTCCAGTGTCTTCTCA 0.567000 27 1091 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 17 241 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291654 141291654 + Silent SNP G G T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:141291654G>T ENST00000247452.3 - 3 467 c.120C>A c.(118-120)tcC>tcA p.S40S NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 40 Ser-rich. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGGCGGAGGAGGCTTCCT 0.522000 HNSCC(46;0.14) 53 793 2.47907e-22 2.64262e-22 1 1 0 ANKRD30BL 554226 broad.mit.edu 37 2 132912316 132912316 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:132912316G>A ENST00000409867.1 - 4 782 c.533C>T c.(532-534)gCc>gTc p.A178V ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like p.A178V(2) endometrium(1)|kidney(3) 4 TTTCCTTATGGCCAGTAAAAG 0.294000 6 31 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 11 819 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179418445 179418445 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:179418445C>A ENST00000589042.1 - 334 89511 c.89287G>T c.(89287-89289)Ggc>Tgc p.G29763C TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28122 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) ACAGCACTGCCCCCATCATAG 0.483000 6 306 0.248553 0.248553 1 1 0 TRIM37 4591 broad.mit.edu 37 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:57093004G>A ENST00000376149.3 - 21 2986 c.2177C>T c.(2176-2178)gCg>gTg p.A726V TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V O94972 TRI37_HUMAN tripartite motif containing 37 848 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding p.A848V(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTCTCAACCGCAGGCAAGCC 0.398000 Mulibrey Nanism 7 792 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147680320 147680320 + Silent SNP G G A rs142207202 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:147680320G>A ENST00000367481.3 + 21 2406 c.2298G>A c.(2296-2298)acG>acA p.T766T STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000321680.6_Silent_p.T802T NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 802 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TCTGTGAAACGTTTACTCGAA 0.488000 37 324 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1073163 1073163 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:1073163G>A ENST00000313093.2 + 3 668 c.437G>A c.(436-438)cGc>cAc p.R146H HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 146 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGAGGCCCGCCGCCCGCGG 0.642000 7 623 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13206143 13206143 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:13206143C>A ENST00000379350.1 + 7 890 c.761C>A c.(760-762)cCa>cAa p.P254Q PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 254 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GTGGGGGGGCCAGACCTCTCA 0.602000 83 357 2.36143e-25 2.52599e-25 1 1 0 NFE2L1 4779 broad.mit.edu 37 17 46136986 46136986 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:46136986A>G ENST00000362042.3 + 6 2918 c.2302A>G c.(2302-2304)Aag>Gag p.K768E NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 768 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GAGGAAGCCAAAGGACCGGAG 0.647000 15 187 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:58743428G>A ENST00000245206.5 - 9 1191 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W GOT2_ENST00000434819.2_Missense_Mutation_p.R312W NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 355 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.R355W(2)|p.R355G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGTTGAGTCCGCATGCCAATG 0.507000 7 1155 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 11 259 0 0 1 0 0 PCDHB11 0 broad.mit.edu 37 5 140581503 140581503 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:140581503C>T ENST00000354757.3 + 1 2156 c.2156C>T c.(2155-2157)gCg>gTg p.A719V PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 719 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGCAGGGCGGCCTCGGTG 0.652000 165 962 0 0 1 0 0 VPS37D 155382 broad.mit.edu 37 7 73085559 73085559 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:73085559C>T ENST00000324941.4 + 4 743 c.609C>T c.(607-609)gcC>gcT p.A203A VPS37D_ENST00000451519.1_Silent_p.A118A NM_001077621.1 NP_001071089.1 Q86XT2 VP37D_HUMAN vacuolar protein sorting 37 homolog D (S. cerevisiae) 203 cellular membrane organization|endosome transport|protein transport late endosome membrane central_nervous_system(1)|ovary(1) 2 Lung NSC(55;0.0908)|all_lung(88;0.198) CCACTGGGGCCGCCCGGGGGC 0.766000 4 66 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100402884 100402884 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:100402884C>T ENST00000358173.3 - 16 3206 c.2738G>A c.(2737-2739)gGc>gAc p.G913D EPHB4_ENST00000360620.3_Intron NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 913 SAM. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) AAGCCACTCGCCCACAGAGCC 0.587000 26 127 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 11 2166 0.0215528 0.0217655 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 27 318 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78610479 78610479 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:78610479C>A ENST00000396137.4 + 9 2926 c.2464C>A c.(2464-2466)Cca>Aca p.P822T JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 822 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ccctcccccaccaccaccacc 0.542000 5 130 0.0215528 0.0217655 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12371650 12371650 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:12371650C>T ENST00000358136.3 + 28 6920 c.6790C>T c.(6790-6792)Cgg>Tgg p.R2264W VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2264 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGAATTTATGCGGCCTTATGA 0.438000 6 721 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97463316 97463316 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:97463316C>T ENST00000377075.2 + 3 1711 c.1613C>T c.(1612-1614)gCg>gTg p.A538V CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 538 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 TTCAAGGATGCGGACAATGAG 0.562000 5 439 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29439358 29439358 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:29439358G>A ENST00000544604.2 + 4 748 c.573G>A c.(571-573)ctG>ctA p.L191L ZNRF3_ENST00000332811.4_Silent_p.L91L|ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 191 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCATTAAGCTGATGAACATCG 0.562000 6 428 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 8 246 5.18039e-06 5.33685e-06 1 1 0 IGDCC3 9543 broad.mit.edu 37 15 65622967 65622967 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:65622967G>A ENST00000327987.4 - 10 1925 c.1674C>T c.(1672-1674)taC>taT p.Y558Y NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 558 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTGCTGGGCGGTAAAACAGCT 0.652000 5 417 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411143 130411143 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:130411143G>A ENST00000370904.1 - 20 3261 c.2351C>T c.(2350-2352)gCc>gTc p.A784V IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000467244.1_5'UTR Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 793 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGTCACTCGGGCACCAGGGGT 0.448000 7 889 0 0 1 0 0 SAP18 10284 broad.mit.edu 37 13 21721345 21721345 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:21721345C>T ENST00000382533.4 + 4 422 c.383C>T c.(382-384)aCc>aTc p.T128I SAP18_ENST00000607003.1_Missense_Mutation_p.T109I NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 109 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) ATTGGCAGCACCATGTCTGGC 0.433000 6 601 0 0 1 0 0 HIST3H2BB 128312 broad.mit.edu 37 1 228646127 228646127 + Silent SNP T T G rs145799075 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:228646127T>G ENST00000369160.2 + 1 320 c.297T>G c.(295-297)gtT>gtG p.V99V NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 99 nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 Prostate(94;0.183) AGACGGCCGTTCGCCTGCTGC 0.652000 7 486 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:170198095G>A ENST00000231706.4 - 7 2291 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 659 integral to membrane amino acid transmembrane transporter activity p.A659V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498000 8 789 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154295786 154295786 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:154295786C>T ENST00000484864.1 + 4 476 c.440C>T c.(439-441)gCc>gTc p.A147V AQP10_ENST00000324978.3_Missense_Mutation_p.A147V|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 147 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCATTTTTGCCACCTATCCT 0.557000 7 750 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 7 273 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921002 1921002 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:1921002C>T ENST00000399161.2 - 11 2340 c.1593G>A c.(1591-1593)ccG>ccA p.P531P MYT1L_ENST00000428368.2_Silent_p.P529P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 531 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P531P(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCTTTGTGCGGGCATCCGG 0.562000 6 957 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1425952 1425952 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:1425952G>A ENST00000336761.6 + 7 744 c.539G>A c.(538-540)gGc>gAc p.G180D DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D|DAZAP1_ENST00000586579.1_Intron NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 180 RRM 2. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACATCATGGGCAAAAAAGTG 0.413000 6 665 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 621 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101073182 101073182 + Silent SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:101073182A>G ENST00000369162.2 - 30 5015 c.4671T>C c.(4669-4671)ccT>ccC p.P1557P NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1557 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ATATCAAAACAGGTTTGGCTG 0.378000 14 353 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31577541 31577541 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:31577541C>T ENST00000389082.5 - 10 2583 c.2319G>A c.(2317-2319)gaG>gaA p.E773E DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 773 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGGTGTTCTCCTCCAGGCCGG 0.517000 30 604 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 5 312 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103483426 103483426 + Missense_Mutation SNP G G T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:103483426G>T ENST00000358392.2 - 11 1716 c.1399C>A c.(1399-1401)Cct>Act p.P467T COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 455 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGACCTGGAGGACCCATAATA 0.418000 75 471 5.02462e-34 5.41249e-34 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238253001 238253001 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:238253001C>T ENST00000295550.4 - 36 8112 c.7660G>A c.(7660-7662)Gct>Act p.A2554T COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2554 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCTGCAAAGCGTTGATGAGC 0.557000 9 1248 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107216677 107216677 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:107216677A>G ENST00000496714.1 - 7 1033 c.832T>C c.(832-834)Tca>Cca p.S278P FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 0 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AGAGGATATGACATCAAGCTA 0.338000 43 302 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 24 700 3.65163e-15 3.86569e-15 1 1 0 NR2F2 7026 broad.mit.edu 37 15 96877325 96877325 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:96877325C>T ENST00000394166.3 + 2 1852 c.463C>T c.(463-465)Ccg>Tcg p.P155S NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 155 Interaction with ZFPM2 (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GGGCAGGATGCCGCCGACCCA 0.662000 7 855 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124389 142124389 + RNA SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:142124389T>C ENST00000390376.2 - 0 88 CTTCAGGATGTGGAATTTTGG 0.522000 6 497 0 0 1 0 0 RGS20 8601 broad.mit.edu 37 8 54791937 54791937 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:54791937C>T ENST00000297313.3 + 2 377 c.285C>T c.(283-285)ccC>ccT p.P95P RGS20_ENST00000344277.6_Intron NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 95 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GACCCCCTCCCGAGGCTCCCC 0.726000 8 605 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 6 456 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47861533 47861533 + Missense_Mutation SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:47861533T>C ENST00000378460.2 - 4 656 c.610A>G c.(610-612)Att>Gtt p.I204V NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 204 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ACTGCTGGAATTAACTGATAG 0.458000 81 441 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31089682 31089682 + Silent SNP C C T rs145751871 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:31089682C>T ENST00000394979.2 + 1 2460 c.2037C>T c.(2035-2037)ggC>ggT p.G679G ZNF646_ENST00000300850.5_Silent_p.G679G O15015 ZN646_HUMAN zinc finger protein 646 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 AGCGGGCTGGCGGTGCCAGCG 0.652000 5 347 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9100157 9100157 + Splice_Site SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:9100157C>T ENST00000383836.3 - 7 1229 c.e7-1 SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AATCACAGCACTTGGGGAGAG 0.577000 T RAF1 pilocytic astrocytoma 8 374 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605766 171605766 + Nonsense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:171605766G>A ENST00000037502.5 - 3 873 c.814C>T c.(814-816)Cga>Tga p.R272* NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 272 Olfactomedin-like. R -> G (in GLC1A; could be a polymorphism). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity p.R272*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTGGGGTCTCGCATCCACACA 0.512000 7 552 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580347 7580347 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:7580347G>A ENST00000379802.3 + 23 4265 c.3924G>A c.(3922-3924)cgG>cgA p.R1308R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1308 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAATGCCCGGCACAAGCAGT 0.532000 5 563 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956103 57956103 + Silent SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:57956103T>C ENST00000334181.4 + 3 1837 c.1587T>C c.(1585-1587)caT>caC p.H529H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCATGAGAAAATCC 0.453000 6 436 0 0 1 0 0 RP11-113D6.10 0 broad.mit.edu 37 11 18231323 18231323 + Missense_Mutation SNP A A C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:18231323A>C ENST00000527059.1 + 1 569 c.109A>C c.(109-111)Agt>Cgt p.S37R RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S37R|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S37R TTACAGATTTAGTGAAATGAA 0.413000 42 261 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48694800 48694800 + Missense_Mutation SNP A A T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:48694800A>T ENST00000236495.5 + 4 415 c.365A>T c.(364-366)gAc>gTc p.D122V SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 113 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 tctggaggagacagagggatc 0.527000 109 831 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872750 55872750 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:55872750G>A ENST00000313503.1 + 1 232 c.232G>A c.(232-234)Gtc>Atc p.V78I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CTCAACTGTCGTCACACCTAA 0.438000 HNSCC(53;0.14) 15 1522 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132730547 132730547 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:132730547G>A ENST00000370818.3 - 7 1939 c.1494C>T c.(1492-1494)tgC>tgT p.C498C GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 498 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CATCATCACCGCAGTCTCCAC 0.463000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 6 853 0 0 1 0 0 COQ10A 93058 broad.mit.edu 37 12 56662938 56662938 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:56662938G>A ENST00000308197.5 + 3 638 c.377G>A c.(376-378)cGt>cAt p.R126H COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 126 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 GTATCCAGCCGTAAGGGTCAT 0.512000 7 624 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 7 1364 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 12 1019 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 235 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150921863 150921863 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:150921863C>T ENST00000271640.5 + 12 1632 c.1442C>T c.(1441-1443)gCc>gTc p.A481V SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGCCAGCTTGCCCAGTCACGG 0.443000 5 696 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74968164 74968164 + Missense_Mutation SNP G G A rs138556118 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:74968164G>A ENST00000261978.4 - 35 5686 c.5300C>T c.(5299-5301)gCg>gTg p.A1767V LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1767 EGF-like 19; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CATGTGGGCCGCATCCAGCTG 0.617000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 732 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163339 141163339 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:141163339C>T ENST00000514251.1 + 4 2388 c.2109C>T c.(2107-2109)gcC>gcT p.A703A ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 703 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GTGAGAATGCCGCCTCTGTGA 0.498000 54 690 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 564 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58490664 58490664 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:58490664C>T ENST00000341164.4 - 7 2004 c.1384G>A c.(1384-1386)Gga>Aga p.G462R ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AAGGCTTTTCCACATTTATTA 0.358000 39 220 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123516310 123516310 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:123516310G>A ENST00000392770.2 - 2 1006 c.204C>T c.(202-204)ggC>ggT p.G68G SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 68 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AATCTTTACCGCCCTCGGGCC 0.592000 107 524 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32481008 32481008 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:32481008G>A ENST00000266088.4 + 9 1257 c.1007G>A c.(1006-1008)cGc>cAc p.R336H SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 336 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.R336H(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 ATGATCAGCCGCATTCTGTAC 0.483000 7 849 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87423766 87423766 + Splice_Site SNP G G T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:87423766G>T ENST00000517970.1 + 9 1031 c.e9-1 WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TCCCTTCTCAGTTAATGGAGA 0.368000 8 361 0.0381472 0.0383974 1 1 0 RNF133 168433 broad.mit.edu 37 7 122338189 122338189 + Missense_Mutation SNP G G A rs137950690 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:122338189G>A ENST00000340112.2 - 1 1021 c.784C>T c.(784-786)Cgc>Tgc p.R262C CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 262 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GGCTTATAGCGTTCAAAGCAA 0.403000 8 722 0 0 1 0 0 TEX37 200523 broad.mit.edu 37 2 88828748 88828748 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:88828748G>A ENST00000303254.3 + 4 441 c.299G>A c.(298-300)cGc>cAc p.R100H NM_152670.2 NP_689883.1 testis expressed 37 GAGGACGAGCGCAAGTTCACC 0.587000 5 623 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27373915 27373915 + Splice_Site SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:27373915G>A ENST00000521400.1 + 8 1340 c.910_splice c.e8+1 p.E304_splice EPHX2_ENST00000518379.1_Splice_Site_p.E272_splice|EPHX2_ENST00000517536.1_Splice_Site_p.E121_splice|EPHX2_ENST00000380476.3_Splice_Site_p.E251_splice|EPHX2_ENST00000521780.1_Splice_Site_p.E238_splice NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 304 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TGCTCCTCCCGGTGGGTGTGC 0.567000 OREG0018668 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 791 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077417 57077417 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:57077417G>A ENST00000532437.1 - 5 3079 c.2768C>T c.(2767-2769)gCc>gTc p.A923V TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 923 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.A923V(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTGCTCATCGGCATCCTGGCT 0.572000 8 962 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456444 30456444 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:30456444G>A ENST00000478753.2 - 1 1058 c.605C>T c.(604-606)gCg>gTg p.A202V SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V Q99611 SPS2_HUMAN selenophosphate synthetase 2 202 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 TTCCTCAGCCGCATCCCGAAA 0.527000 5 583 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25427509 25427509 + RNA SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:25427509C>T ENST00000424208.1 + 0 272 NR_003305.1 GATGCGTGTGCGGGGAAGGGG 0.537000 7 845 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K 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.R51K(1) 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) GCACTGGGGCCTGCAGCAGCT 0.672000 6 410 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626809 122626809 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:122626809C>T ENST00000303924.4 - 4 1736 c.1199G>A c.(1198-1200)cGg>cAg p.R400Q NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 400 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AATTTTACCCCGGTAGAAGAG 0.413000 130 686 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26431077 26431077 + RNA SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:26431077G>A ENST00000466808.2 + 0 1447 AGCATTCCGGGCAACCCAGAG 0.517000 5 524 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760540 91760540 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:91760540G>A ENST00000389857.6 - 23 4175 c.4089C>T c.(4087-4089)taC>taT p.Y1363Y NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1363 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCTCCTCATGGTACTGCTCCT 0.542000 146 735 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98736133 98736133 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:98736133G>A ENST00000477737.1 + 4 653 c.449G>A c.(448-450)gGc>gAc p.G150D VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 150 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GATTTTGGCGGCATTCTGGAG 0.522000 7 1056 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 7 659 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 346453 346453 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:346453C>T ENST00000343164.4 - 6 619 c.567G>A c.(565-567)cgG>cgA p.R189R SLC6A13_ENST00000445055.2_Silent_p.R97R NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 189 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TCAAGACCCGCCGCCTGGGGA 0.622000 5 432 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 7 290 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6261426 6261426 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:6261426G>A ENST00000379936.2 + 4 517 c.402G>A c.(400-402)ccG>ccA p.P134P CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 134 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTGGGCCCGCACACACCCA 0.617000 8 1046 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318801 6318801 + Nonsense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:6318801G>A ENST00000264870.3 - 2 362 c.97C>T c.(97-99)Cag>Tag p.Q33* NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 33 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ACCACGCCCTGAAGCTCCACT 0.602000 7 671 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36665452 36665452 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:36665452A>G ENST00000543751.1 + 13 1331 c.1186A>G c.(1186-1188)Act>Gct p.T396A MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 428 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) AAATGTATATACTCCTAAGTC 0.368000 68 332 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 25 344 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33641396 33641396 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:33641396G>A ENST00000374316.5 + 24 4017 c.2957G>A c.(2956-2958)cGc>cAc p.R986H ITPR3_ENST00000605930.1_Missense_Mutation_p.R986H Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 986 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.R986H(2) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CTGGATTACCGCATATCCTAC 0.542000 8 1056 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75703966 75703966 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:75703966G>A ENST00000394947.3 - 6 1189 c.875C>T c.(874-876)aCg>aTg p.T292M SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 292 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GGATGGGGCCGTTCCCAACGA 0.517000 7 1089 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40865346 40865346 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:40865346C>T ENST00000428826.2 - 11 1206 c.1085G>A c.(1084-1086)cGg>cAg p.R362Q EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 362 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GTGCCTTCTCCGGCGACGACC 0.552000 5 522 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558549 129558549 + Silent SNP G G A rs74724941 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:129558549G>A ENST00000422113.2 - 9 3497 c.3171C>T c.(3169-3171)gaC>gaT p.D1057D TMEM132D_ENST00000389441.4_Silent_p.D595D NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1057 integral to membrane p.D1057E(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGGGTACTCGTCGTCTGAGG 0.512000 57 505 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242695353 242695353 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:242695353G>A ENST00000321264.4 + 9 1439 c.1230G>A c.(1228-1230)cgG>cgA p.R410R D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.R276R NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 410 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CTGTGGAGCGGCTCTACGACA 0.672000 5 504 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880318 100880318 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:100880318G>A ENST00000341189.4 + 5 1215 c.349G>A c.(349-351)Gtt>Att p.V117I ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 117 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 AGATGATACCGTTTTGTCCCC 0.517000 40 462 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41422975 41422975 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:41422975G>A ENST00000551295.2 + 23 3051 c.2934G>A c.(2932-2934)gcG>gcA p.A978A CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 978 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGGTTCGCGCGCACAGTGATG 0.458000 6 839 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64152974 64152974 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:64152974C>T ENST00000247225.6 - 3 1269 c.1175G>A c.(1174-1176)tGc>tAc p.C392Y NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 392 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) GAAGATTTTGCAGGCTAAAGG 0.378000 5 469 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118699217 118699217 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:118699217G>A ENST00000371594.4 - 1 180 c.102C>T c.(100-102)tgC>tgT p.C34C CXorf56_ENST00000486230.1_Silent_p.C34C|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000476164.1_Silent_p.C34C|CXorf56_ENST00000536133.1_Silent_p.C34C NM_022101.3 NP_071384.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 34 protein binding cervix(1)|endometrium(2)|lung(7) 10 CCATCTGGCCGCACAAACAGT 0.577000 6 647 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18880528 18880528 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:18880528C>T ENST00000446231.2 - 20 3143 c.2731G>A c.(2731-2733)Gtc>Atc p.V911I SMG1_ENST00000389467.3_Missense_Mutation_p.V911I Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 911 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TGCCAAAGGACAGCATCTGTC 0.488000 6 278 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254285 98254285 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:98254285G>A ENST00000265634.3 + 3 860 c.695G>A c.(694-696)cGc>cAc p.R232H NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 232 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.R232H(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CTCCCACTCCGCACAAACTAC 0.597000 7 1369 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 99 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 4 238 8.12818e-05 8.29021e-05 1 1 0 CALML6 163688 broad.mit.edu 37 1 1848280 1848280 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:1848280G>A ENST00000307786.3 + 4 797 c.343G>A c.(343-345)Gca>Aca p.A115T CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 115 EF-hand 3. cytoplasm|nucleus calcium ion binding p.A115T(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGAGGGCGGCATTCCGTGT 0.597000 6 802 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 6 285 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47786815 47786815 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr21:47786815C>A ENST00000359568.5 + 15 3033 c.2926C>A c.(2926-2928)Ctc>Atc p.L976I PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 976 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ATCCTGTTACCTCTCTGAATT 0.537000 5 646 0.184627 0.185231 1 1 0 ZNF280B 140883 broad.mit.edu 37 22 22842836 22842836 + Missense_Mutation SNP T T A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:22842836T>A ENST00000360412.2 - 4 1663 c.888A>T c.(886-888)gaA>gaT p.E296D ZNF280B_ENST00000406426.1_Missense_Mutation_p.E296D NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CCGGCTGCCCTTCTCCTTTAT 0.388000 6 628 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976163 4976163 + Missense_Mutation SNP C C T rs75797492 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:4976163C>T ENST00000380371.1 - 1 780 c.781G>A c.(781-783)Gtt>Att p.V261I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGTGGACAACGGCCAGGTTG 0.468000 91 272 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 8 345 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15783633 15783633 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:15783633C>T ENST00000359621.4 + 2 118 c.93C>T c.(91-93)ggC>ggT p.G31G CELA2A_ENST00000497590.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 31 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 GGGTGGTTGGCGGTGAAGAAG 0.577000 4 255 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155679 1155679 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:1155679C>T ENST00000356191.2 + 5 365 c.365C>T c.(364-366)aCg>aTg p.T122M mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CATCCAGCTACGCCGCAGCCA 0.632000 17 124 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7060853 7060853 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:7060853G>A ENST00000456013.1 + 2 332 c.90G>A c.(88-90)cgG>cgA p.R30R PTPN6_ENST00000318974.9_Silent_p.R30R|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000399448.1_Silent_p.R32R NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 30 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 TCCTGGCTCGGCCCAGTCGCA 0.662000 6 598 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18874844 18874844 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:18874844G>A ENST00000388995.6 - 6 2523 c.2300C>T c.(2299-2301)gCc>gTc p.A767V FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 767 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CATGGGGCGGGCATTTTGGGC 0.652000 6 838 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 8 167 1.08611e-07 1.13413e-07 1 1 0 LRRC28 123355 broad.mit.edu 37 15 99874263 99874263 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:99874263G>A ENST00000301981.3 + 6 761 c.521G>A c.(520-522)cGc>cAc p.R174H LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000331450.5_Intron NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 174 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TATGTGCCGCGCCATCTCTGC 0.488000 7 523 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465897 24465897 + Missense_Mutation SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:24465897C>T ENST00000382137.3 - 3 601 c.533G>A c.(532-534)cGg>cAg p.R178Q C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 178 Collagen-like 3. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TCTTATTCCCCGGACTCCTGG 0.587000 6 305 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684911 80684911 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:80684911G>A ENST00000269373.6 + 6 867 c.794G>A c.(793-795)gGc>gAc p.G265D FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 265 G -> C (in Ref. 4; AAH01458). kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCCTACCACGGCAAAATCCCC 0.502000 6 1076 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58830668 58830668 + Silent SNP C C T rs146362585 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:58830668C>T ENST00000414170.3 + 3 512 c.225C>T c.(223-225)tgC>tgT p.C75C LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C P11150 LIPC_HUMAN lipase, hepatic 75 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity p.C75C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TACAGGAGTGCGGCTTCAACT 0.473000 6 844 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110099973 110099973 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:110099973G>A ENST00000518632.1 + 2 583 c.232G>A c.(232-234)Gca>Aca p.A78T TRHR_ENST00000311762.2_Missense_Mutation_p.A78T P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 78 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CTTGGTGGCCGCAGGCCTCCC 0.512000 5 479 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38145544 38145544 + Missense_Mutation SNP A A T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:38145544A>T ENST00000379747.4 - 18 2258 c.2141T>A c.(2140-2142)aTt>aAt p.I714N POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000497145.1_5'UTR NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 714 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACCTTCTTTAATCAGTCTGAA 0.383000 61 391 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18841673 18841673 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:18841673G>A ENST00000446231.2 - 52 9223 c.8811C>T c.(8809-8811)taC>taT p.Y2937Y SMG1_ENST00000389467.3_Silent_p.Y2937Y Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2937 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTAATTCACCGTACTGAGCAT 0.413000 4 182 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53769492 53769492 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:53769492G>A ENST00000288139.3 + 21 2891 c.2773G>A c.(2773-2775)Gca>Aca p.A925T CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 905 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGCCCTGGCCGCAGAGGACCC 0.627000 5 456 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 16 552 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205307704 205307704 + Nonsense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:205307704G>A ENST00000367156.3 - 8 1594 c.778C>T c.(778-780)Cga>Tga p.R260* KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260* NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 260 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) AAGAACGATCGTTCCATCTTC 0.517000 70 372 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193366601 193366601 + Missense_Mutation SNP A A C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:193366601A>C ENST00000361510.2 + 21 2187 c.1953A>C c.(1951-1953)aaA>aaC p.K651N OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 596 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TATTTGAAAAAGCTAAAAATG 0.308000 32 505 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 8 263 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27106537 27106538 + Frame_Shift_Ins INS - - GG TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:27106537_27106538insGG ENST00000324856.7 + 20 6519_6520 c.6148_6149insGG c.(6148-6150)ggafs p.G2050fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1833fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1667fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G378fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2050 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGAGTGGTGGTGGGACTGCTTG 0.554 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 563 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 8 888 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 8 202 --- --- --- --- IL12RB2 3595 broad.mit.edu 37 1 67793895 67793895 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:67793895delA ENST00000262345.1 + 5 1132 c.492delA c.(490-492)ccfs p.P164fs IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.P164fs NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 164 Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TAAGTGGACCAAAAAATTTAA 0.348 7 727 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 12 273 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 13 244 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 13 493 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 15 814 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:161044057_161044059delCAC ENST00000368012.3 - 6 1407_1409 c.1105_1107delGTG c.(1105-1107)del p.V369del PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 369 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGACATGAGCACCACCACCACC 0.571 8 635 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 877 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 13 260 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 14 411 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 7 726 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 11 599 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 8 498 --- --- --- --- CHRM3 1131 broad.mit.edu 37 1 240072443 240072444 + Frame_Shift_Ins INS - - A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:240072443_240072444insA ENST00000255380.4 + 5 2471_2472 c.1692_1693insA c.(1690-1695)gaaaaafs p.EK564fs NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 564 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.R568fs*>24(1)|p.K567fs*>24(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GCCAGTGTGACAAAAAAAAGAG 0.505 8 464 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 8 558 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 11 413 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 11 544 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 7 21 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 12 413 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 7 523 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113147636 113147636 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:113147636delA ENST00000302558.3 - 20 3077 c.2886delT c.(2884-2886)ttfs p.F962fs RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TTGTTTGGCCAAAAATCACAC 0.408 8 1235 --- --- --- --- R3HDM1 23518 broad.mit.edu 37 2 136409468 136409470 + In_Frame_Del DEL CCA CCA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:136409468_136409470delCCA ENST00000264160.4 + 17 2159_2161 c.1789_1791delCCA c.(1789-1791)del p.P605del R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 605 Poly-Pro. nucleic acid binding p.P597P(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) tcctccaccgccaccaccaccac 0.606 7 463 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227896886 227896886 + Frame_Shift_Del DEL C C - rs2229812 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr2:227896886delC ENST00000396625.3 - 39 3891 c.3684delG c.(3682-3684)aafs p.K1229fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1229 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGACCTTTCTTTCCACGAG 0.522 8 607 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:49723322_49723327delGCGCTG ENST00000449682.2 - 10 1577_1582 c.1216_1221delCAGCGC c.(1216-1221)del p.QR406del MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 392 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 7 845 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. 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) AGGAACGGGGCCACCACCACCAC 0.635 8 207 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 8 525 --- --- --- --- WDR52 55779 broad.mit.edu 37 3 113098247 113098249 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:113098247_113098249delTCC ENST00000393845.2 - 17 2268_2270 c.2202_2204delGGA c.(2200-2205)gaa>ga p.EE736del WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 736 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TGGctcttcttcctcctcctcct 0.458 7 488 --- --- --- --- WDR52 55779 broad.mit.edu 37 3 113145015 113145015 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:113145015delA ENST00000393845.2 - 4 429 c.363delT c.(361-363)ttfs p.F121fs WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Frame_Shift_Del_p.F121fs NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 121 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CCAGAGTCACAAAAGGCATCG 0.408 7 1659 --- --- --- --- ALG1L2 0 broad.mit.edu 37 3 129816899 129816900 + RNA INS - - ATG TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:129816899_129816900insATG ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TTCCAGAAAGCATGTCAAGATG 0.589 11 17 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 13 658 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 8 309 --- --- --- --- ATP11B 23200 broad.mit.edu 37 3 182577061 182577085 + Frame_Shift_Del DEL ATTGGCTGGGATCTTGATCTGTATC ATTGGCTGGGATCTTGATCTGTATC - rs148742494 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC ENST00000323116.5 + 12 1374_1398 c.1114_1138delATTGGCTGGGATCTTGATCTGTATC c.(1114-1140)atfs p.IGWDLDLYH372fs NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 372 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATC 0.333 7 158 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 10 232 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 8 329 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 7 414 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190881950 190881952 + In_Frame_Del DEL AGA AGA - rs56257823 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr4:190881950_190881952delAGA ENST00000226798.4 + 7 807_809 c.585_587delAGA c.(583-588)cca>cc p.PE195del FRG1_ENST00000514482.1_Intron NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 195 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ATGACATTCCAGAAGAAGACAAA 0.340 7 263 --- --- --- --- CTNND2 1501 broad.mit.edu 37 5 11110989 11110991 + In_Frame_Del DEL TTC TTC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:11110989_11110991delTTC ENST00000304623.8 - 14 2631_2633 c.2442_2444delGAA c.(2440-2445)aaa>aa p.KK816del CTNND2_ENST00000503622.1_In_Frame_Del_p.KK479del|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_In_Frame_Del_p.KK383del|CTNND2_ENST00000359640.2_In_Frame_Del_p.KK816del|CTNND2_ENST00000511377.1_In_Frame_Del_p.KK725del NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 816 Poly-Lys. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGATTTCTTTTTCTTCTTCTTCT 0.502 44 1810 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 7 1006 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 8 791 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 8 801 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80409566 80409568 + In_Frame_Del DEL CCA CCA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:80409566_80409568delCCA ENST00000265080.4 + 15 2364_2366 c.2297_2299delCCA c.(2296-2301)ccc>c p.PT766del CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 766 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCCAGCAGTCCCACCACCACCAC 0.562 8 465 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130782332 130782332 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:130782332delT ENST00000509018.1 - 22 3470 c.3265delA c.(3265-3267)ggfs p.R1089fs RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.R812fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.R1102fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.R1089fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.R1097fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.R1139fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1089 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CGGCGTGCCCTTTTTTTGTGA 0.453 7 815 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 8 995 --- --- --- --- AFF4 27125 broad.mit.edu 37 5 132270259 132270259 + Frame_Shift_Del DEL T T - rs35626495 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr5:132270259delT ENST00000265343.5 - 3 877 c.498delA c.(496-498)aafs p.K166fs AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 166 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATGCTGGCCTTTTTTCCGGC 0.512 8 797 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 12 78 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 13 1043 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 13 643 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 15 606 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 10 533 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90432786 90432786 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr6:90432786delA ENST00000369393.3 - 40 5970 c.5855delT c.(5854-5856)tcfs p.F1952fs MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1952 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACACCAGCGGAAAAGGTCCCG 0.473 9 1189 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:27222462delT ENST00000006015.3 - 2 966 c.895delA c.(895-897)ttfs p.I299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TCTCTGTTAATTTTTTTTTCC 0.448 T NUP98 CML 8 650 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 8 976 --- --- --- --- DPY19L2P1 0 broad.mit.edu 37 7 35145789 35145793 + RNA DEL CTAAA CTAAA - rs76141590 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:35145789_35145793delCTAAA ENST00000436258.1 - 0 1553_1557 GTGACTATCTCTAAACTACTTAGGA 0.190 7 18 --- --- --- --- POLM 27434 broad.mit.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:44120414delG ENST00000242248.5 - 2 391 c.290delC c.(289-291)cafs p.P97fs POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 97 BRCT. DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CAGCAGAGCTGGGGGGGTGCA 0.637 DNA polymerases (catalytic subunits) 7 802 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 8 1111 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65171408 65171409 + RNA INS - - TTCAGACC rs61067766 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:65171408_65171409insTTCAGACC ENST00000430126.2 + 0 1389 AGGTAAGCTTATTCCCTTCAAA 0.505 7 81 --- --- --- --- HIP1 3092 broad.mit.edu 37 7 75168684 75168684 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:75168684delT ENST00000336926.6 - 30 3046 c.3020delA c.(3019-3021)agfs p.K1007fs HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 1007 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTCGTAGTGCTTTTTCCGAAG 0.507 T PDGFRB CMML 8 2150 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 7 2082 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 414 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 8 431 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 8 1337 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 1207 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 10 429 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33464069 33464069 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:33464069delT ENST00000379471.2 - 22 2957 c.2870delA c.(2869-2871)acfs p.N957fs NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 957 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CCACACAGAGTTTTTGCGGTC 0.572 8 913 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40772411 40772411 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:40772411delA ENST00000602553.1 - 5 3158 c.2864delT c.(2863-2865)gafs p.V955fs ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 955 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCTTTGATGTACTCTGAGGGT 0.423 155 713 --- --- --- --- PGM5P2 0 broad.mit.edu 37 9 69127140 69127140 + RNA DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:69127140delA ENST00000591037.1 - 0 430 NR_002836.2 TAAACCATCCAAAAAAAAAAA 0.403 31 129 --- --- --- --- RP11-202I11.2 0 broad.mit.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr9:88370966delT ENST00000447148.1 - 0 419 AAACAAGtaatttttttttta 0.274 7 76 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 9 298 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 11 531 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 14 934 --- --- --- --- CHST15 51363 broad.mit.edu 37 10 125780764 125780765 + Frame_Shift_Del DEL GT GT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr10:125780764_125780765delGT ENST00000421115.1 - 6 2087_2088 c.1354_1355delAC c.(1354-1356)cfs p.T452fs CHST15_ENST00000346248.5_Intron|CHST15_ENST00000435907.1_Intron NM_001270765.1|NM_014863.3 NP_001257694.1|NP_055678.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 0 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GGGGGGGGGGGTACACACAGGC 0.540 8 122 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 7 311 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:46001356_46001358delGTG ENST00000257821.4 - 6 936_938 c.313_315delCAC c.(313-315)del p.H105del PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 105 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 actgctgggcgtggtggtggtgg 0.488 8 323 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 1049 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 11 957 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 11 250 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 14 350 --- --- --- --- NDUFC2 4718 broad.mit.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:77784147delA ENST00000281031.4 - 2 681 c.207delT c.(205-207)ttfs p.F69fs NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000534029.1_Intron|NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs NM_001204055.1|NM_004549.5 NP_001190984.1|NP_004540.1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa p.F69fs*7(1) large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AATATCCAGCAAAAAAAAAGG 0.358 17 622 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118514602 118514604 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr11:118514602_118514604delTCC ENST00000361417.2 + 15 3373_3375 c.2962_2964delTCC c.(2962-2964)del p.S992del PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 992 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ctctggctcttcctcctcctcct 0.650 7 345 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 9 308 --- --- --- --- MFAP5 8076 broad.mit.edu 37 12 8804269 8804269 + Frame_Shift_Del DEL T T - rs139330366 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:8804269delT ENST00000359478.2 - 7 423 c.236delA c.(235-237)atfs p.N79fs MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000535336.1_Intron NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 79 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TGCAGTGGTATTTTTTTCACT 0.423 7 696 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 8 898 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 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 8 766 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 299 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 7 627 --- --- --- --- GAS6 2621 broad.mit.edu 37 13 114523857 114523858 + Frame_Shift_Ins INS - - G rs77167214 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr13:114523857_114523858insG ENST00000357389.3 - 15 2297_2298 c.2145_2146insC c.(2143-2148)cctggafs p.G716fs GAS6_ENST00000355761.4_Frame_Shift_Ins_p.G619fs|GAS6_ENST00000327773.6_Frame_Shift_Ins_p.G673fs|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Frame_Shift_Ins_p.G400fs|GAS6_ENST00000418959.3_Frame_Shift_Ins_p.G374fs Q14393 GAS6_HUMAN growth arrest-specific 6 716 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity p.P672P(1) central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GCGGGCTCCACGGGGGGGCAGG 0.703 9 247 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 11 58 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 8 80 --- --- --- --- PYGL 5836 broad.mit.edu 37 14 51375597 51375597 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:51375597delA ENST00000216392.7 - 18 2586 c.2254delT c.(2254-2256)ctfs p.S752fs PYGL_ENST00000544180.2_Frame_Shift_Del_p.S718fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.S752fs NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 752 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding p.S752fs*6(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TGCTTGGGAGAAAAAAAGCCA 0.443 7 703 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 12 152 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 11 314 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 9 1207 --- --- --- --- SNAPC5 10302 broad.mit.edu 37 15 66786799 66786801 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr15:66786799_66786801delTCC ENST00000316634.5 - 3 351_353 c.270_272delGGA c.(268-273)gaa>ga p.EE94del SNAPC5_ENST00000563480.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000395589.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000307979.7_In_Frame_Del_p.EE64del O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 94 Poly-Glu. transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 ttcttcctcttcctcctcctcct 0.463 7 578 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 10 409 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 686 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 12 316 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 8 469 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 8 559 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5461960 5461961 + Frame_Shift_Del DEL TC TC - rs61753138 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:5461960_5461961delTC ENST00000345221.3 - 4 2609_2610 c.2055_2056delGA c.(2053-2058)gatgfs p.EM685fs NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 685 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) ATGTTCTCCATCTCTCTCTCCC 0.540 7 677 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:26653806_26653807insA ENST00000226230.6 + 3 663_664 c.518_519insA c.(517-519)aaafs p.K173fs TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.K176fs?(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 8 289 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 7 461 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 480 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 24 239 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 119 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ccg>c p.LP22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 7 83 --- --- --- --- CCDC43 124808 broad.mit.edu 37 17 42756252 42756253 + Frame_Shift_Ins INS - - T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:42756252_42756253insT ENST00000315286.8 - 5 654_655 c.646_647insA c.(646-648)gacfs p.D216fs C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.D219fs|CCDC43_ENST00000457422.2_3'UTR NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 216 lung(2) 2 Prostate(33;0.0322) TCTCTGTGTCCTTTTTTTTTCC 0.465 7 162 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 12 685 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56435160 56435161 + Frame_Shift_Ins INS - - C TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:56435160_56435161insC ENST00000584437.1 - 8 3931_3932 c.1976_1977insG c.(1975-1977)gccfs p.A659fs RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs Q68DV7 RNF43_HUMAN ring finger protein 43 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCCT 0.599 8 976 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 7 532 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 7 705 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 9 280 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 9 18 --- --- --- --- RNF126 55658 broad.mit.edu 37 19 648262 648263 + Frame_Shift_Ins INS - - G TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:648262_648263insG ENST00000292363.5 - 9 956_957 c.801_802insC c.(799-804)cctctgfs p.L268fs NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 268 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTCGGCAGACGGGGCAGCTGT 0.693 8 32 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 8 941 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 9 356 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 10 105 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 12 701 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 10 386 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 25 473 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17443416 17443417 + RNA DEL TG TG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr21:17443416_17443417delTG ENST00000458468.1 + 0 27 NR_027790.1 TTTTTCTTTTTGTGTGTGTGTG 0.431 10 747 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 426 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 26 352 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC TGC - rs45480998 TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:28194934_28194936delTGC ENST00000302326.4 - 1 2550_2552 c.1596_1598delGCA c.(1594-1599)caa>ca p.QQ548del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 548 Poly-Gln. binding p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgctgctgttgctgctgctgct 0.650 T ETV6 """AML, meningioma""" 7 78 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 870 --- --- --- --- SSTR3 0 broad.mit.edu 37 22 37602773 37602775 + In_Frame_Del DEL TCC TCC - rs4988470 byFrequency TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:37602773_37602775delTCC ENST00000328544.3 - 2 1601_1603 c.1068_1070delGGA c.(1066-1071)gat>ga p.ED356del SSTR3_ENST00000402501.1_In_Frame_Del_p.ED356del NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 356 Glu-rich (acidic). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ctcctccccatcctcctcctcct 0.714 7 315 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 8 664 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 12 1003 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 10 446 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360648 70360650 + In_Frame_Del DEL CAG CAG - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:70360648_70360650delCAG ENST00000333646.6 + 42 6416_6418 c.6217_6219delCAG c.(6217-6219)del p.Q2079del MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) gcaacagcaacagcagcagcagc 0.621 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 357 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 21 270 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 7 591 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e601f5b-bebf-4205-9a88-48e18d07178c 8244dc39-8b03-44b8-bdee-7bf0c4d51f66 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 9 545 --- --- --- ---