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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 15 109 0 0 0.750413 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 4 118 0 0 0.184627 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 4 116 0 0 0.150653 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083616 15083616 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:15083616C>T ENST00000598504.1 - 4 1466 c.107G>A c.(106-108)cGc>cAc p.R36H SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R36H|SLC1A6_ENST00000430939.2_Silent_p.A40A NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 36 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CAGGCGCGTGCGCAGTGCTCT 0.677000 4 105 0 0 0.150653 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1186 0 0 0.335167 0 0 KIAA0753 9851 broad.mit.edu 37 17 6524291 6524291 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:6524291G>T ENST00000361413.3 - 7 1490 c.1132C>A c.(1132-1134)Ctg>Atg p.L378M KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 378 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TTTGGTGACAGTTTCTTTTCC 0.373000 17 255 0.00229938 0.00235164 0.624587 1 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 6 95 0 0 0.387290 0 0 BCL11B 64919 broad.mit.edu 37 14 99641460 99641460 + Silent SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:99641460A>C ENST00000345514.2 - 3 1766 c.1500T>G c.(1498-1500)ggT>ggG p.G500G BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 571 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cgggcACCCCACCACCGCCGT 0.706000 T TLX3 T-ALL 11 40 0 0 0.853193 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974782 21974782 + Nonsense_Mutation SNP C C T rs138677674 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:21974782C>T ENST00000304494.5 - 1 315 c.45G>A c.(43-45)tgG>tgA p.W15* CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 15 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGTGGCCAGCCAGTCAGCCG 0.756000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 167 91 0 0 0.870114 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664684 160664684 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:160664684C>T ENST00000366953.3 - 7 1457 c.1199G>A c.(1198-1200)cGc>cAc p.R400H SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 400 R -> C (lower Vmax and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177516). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GCGTCCGATGCGGTCGATGGT 0.512000 6 532 0 0 0.217242 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564293 64564293 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:64564293G>A ENST00000294066.2 - 21 1571 c.1480C>T c.(1480-1482)Cct>Tct p.P494S MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 494 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CGAGTAACAGGGTGAATCCAG 0.637000 110 229 0 0 0.870114 0 0 DPPA3P2 0 broad.mit.edu 37 14 36841171 36841171 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:36841171A>G ENST00000557188.1 + 0 802 CTATGCTAGTATAGACTATAC 0.323000 8 195 0 0 0.278610 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 686 0 0 0.278610 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 10 1048 0 0 0.335167 0 0 LRRN2 10446 broad.mit.edu 37 1 204587040 204587040 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:204587040C>T ENST00000367175.1 - 1 4293 c.2081G>A c.(2080-2082)aGg>aAg p.R694K LRRN2_ENST00000367177.3_Missense_Mutation_p.R694K|LRRN2_ENST00000367176.3_Missense_Mutation_p.R694K O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 694 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGGCAGCTTCCTCCCTGGATT 0.587000 9 996 0 0 0.307466 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 5 170 0 0 0.184627 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076866 73076866 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:73076866C>T ENST00000263674.3 + 20 6219 c.5869C>T c.(5869-5871)Cgg>Tgg p.R1957W NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1957 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CAGCTGCCCACGGGCACCACT 0.652000 99 215 0 0 0.870114 0 0 PANK4 55229 broad.mit.edu 37 1 2444410 2444410 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:2444410C>T ENST00000378466.3 - 13 1656 c.1644G>A c.(1642-1644)ctG>ctA p.L548L PANK4_ENST00000435556.3_Silent_p.L509L NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 548 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CCTCCCAGCCCAGCGCGTCCA 0.677000 323 624 0 0 0.870114 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 4 103 0 0 0.184627 0 0 FCGBP 8857 broad.mit.edu 37 19 40363276 40363276 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:40363276C>T ENST00000221347.6 - 32 14801 c.14794G>A c.(14794-14796)Gag>Aag p.E4932K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4932 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACAGCCTCGCCGTCCACG 0.652000 116 103 0 0 0.870114 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 9 851 0 0 0.411799 0 0 ZAN 7455 broad.mit.edu 37 7 100349991 100349991 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100349991T>C ENST00000542585.1 + 0 2411 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.S755P(5) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCCCAGAAAA 0.517000 64 1958 0 0 0.847076 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 5 204 0 0 0.387290 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 7 837 0 0 0.278610 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 154 0 0 0.150653 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 11 420 0 0 0.500413 0 0 AC093642.5 0 broad.mit.edu 37 2 243037116 243037116 + RNA SNP T T A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:243037116T>A ENST00000456398.1 + 0 248 GCTGGAAGAATTGTGAATCTT 0.398000 7 586 0 0 0.693898 0 0 PLCD4 84812 broad.mit.edu 37 2 219500518 219500518 + Splice_Site SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:219500518G>C ENST00000450993.2 + 14 2235 c.e14-1 PLCD4_ENST00000432688.1_Splice_Site|PLCD4_ENST00000417849.1_Splice_Site NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCTGACTACAGGTGATCAGCG 0.532000 47 54 0 0 0.870114 0 0 AJAP1 55966 broad.mit.edu 37 1 4772528 4772528 + Missense_Mutation SNP G G A rs138033447 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:4772528G>A ENST00000378191.4 + 2 979 c.598G>A c.(598-600)Gtt>Att p.V200I AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 200 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ATTTCCGGGCGTTTACGGCCC 0.652000 55 86 0 0 0.870114 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276936 71276936 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:71276936G>A ENST00000398531.1 + 1 328 c.303G>A c.(301-303)aaG>aaA p.K101K KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 101 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTCCAAGGGGGGCTGTG 0.692000 15 1092 0 0 0.520397 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 17 815 0 0 0.667858 0 0 MYO9B 4650 broad.mit.edu 37 19 17213029 17213029 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:17213029C>A ENST00000595618.1 + 2 654 c.502C>A c.(502-504)Cac>Aac p.H168N MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N|MYO9B_ENST00000593411.1_3'UTR NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 168 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GAACCTCAAGCACCGCTTCCT 0.572000 325 320 2.03819e-121 2.22617e-121 0.870114 1 0 ARHGDIB 397 broad.mit.edu 37 12 15095522 15095522 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:15095522G>A ENST00000228945.4 - 6 684 c.540C>T c.(538-540)gaC>gaT p.D180D ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000541546.1_Silent_p.D180D NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 180 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 GCTTGTCATCGTCGGTGAAGA 0.567000 556 213 0 0 0.870114 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 14 276 0 0 0.520397 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 16 243 0 0 0.500413 0 0 TGFBR1 7046 broad.mit.edu 37 9 101911535 101911535 + Missense_Mutation SNP G G A rs113605875 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:101911535G>A ENST00000374994.4 + 9 1577 c.1460G>A c.(1459-1461)cGg>cAg p.R487Q TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 487 Protein kinase. R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) ACAGCATTGCGGATTAAGAAA 0.373000 8 176 0 0 0.307466 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311108 50311108 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:50311108A>G ENST00000418948.1 + 0 1156 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGGTTGGGGAGGGGGGCAGC 0.701000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 207 0 0 0.520397 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 25 1502 0 0 0.750413 0 0 CELSR3 1951 broad.mit.edu 37 3 48699138 48699138 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:48699138C>T ENST00000544264.1 - 1 1210 c.930G>A c.(928-930)gcG>gcA p.A310A CELSR3_ENST00000164024.4_Silent_p.A310A Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 310 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.A310A(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGCCCGGTTCGCCGAGGTTA 0.706000 101 498 0 0 0.870114 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306490 2306490 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:2306490G>A ENST00000290974.2 - 8 1916 c.1577C>T c.(1576-1578)tCc>tTc p.S526F ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 526 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 AGAGTCCAGGGAAGTGGGCGA 0.667000 161 380 0 0 0.870114 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 24 174 6.21321e-17 6.59421e-17 0.639603 1 0 POM121L12 285877 broad.mit.edu 37 7 53103972 53103972 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:53103972G>A ENST00000408890.4 + 1 624 c.608G>A c.(607-609)aGc>aAc p.S203N NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 203 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GTCTCAGACAGCAAGGGTGGC 0.667000 218 401 0 0 0.870114 0 0 CUX1 1523 broad.mit.edu 37 7 101870648 101870648 + Splice_Site SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:101870648A>C ENST00000360264.3 + 21 3185 c.3163_splice c.e21-1 p.E1055_splice CUX1_ENST00000292535.7_Splice_Site_p.E1044_splice|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Splice_Site_p.E886_splice|CUX1_ENST00000550008.2_Splice_Site_p.E988_splice|CUX1_ENST00000549414.2_Splice_Site_p.E1022_splice|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942_splice|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1044 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TAATTACAGAAAGCACTCCAA 0.512000 859 1728 0 0 0.870114 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 12 810 0 0 0.248553 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 22 872 0 0 0.796494 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 14 324 0 0 0.479597 0 0 SLX4 84464 broad.mit.edu 37 16 3639059 3639059 + Missense_Mutation SNP G G A rs149362820 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:3639059G>A ENST00000294008.3 - 12 5220 c.4580C>T c.(4579-4581)cCg>cTg p.P1527L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1527 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CATCTGGGCCGGAGGAGGGGT 0.622000 Direct reversal of damage 10 1374 0 0 0.278610 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 9 388 0 0 0.387290 0 0 TTC30B 150737 broad.mit.edu 37 2 178416956 178416956 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:178416956G>A ENST00000408939.2 - 1 786 c.536C>T c.(535-537)gCc>gTc p.A179V NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 179 Missing (in Ref. 1; BAB70953). cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTGCAGGGCGGCAAAAAACTT 0.542000 7 984 0 0 0.248553 0 0 USP6 9098 broad.mit.edu 37 17 5038577 5038577 + Splice_Site SNP G G A rs141506323 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:5038577G>A ENST00000574788.1 + 16 2773 c.543_splice c.e16+1 p.P181_splice USP6_ENST00000332776.4_Splice_Site_p.P181_splice|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.P181_splice P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 181 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGTATAACCCGGTGAGTATTC 0.488000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 6 654 0 0 0.847076 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147009 161147009 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:161147009A>G ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CCGAATCAGGATGTTGACCTT 0.438000 8 619 0 0 0.387290 0 0 ZNF761 388561 broad.mit.edu 37 19 53959137 53959137 + RNA SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:53959137G>T ENST00000454407.1 + 0 1829 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CATCGTAGACGTCATACTGGA 0.393000 7 1065 0.27861 0.281109 0.278610 1 0 ZNF585A 199704 broad.mit.edu 37 19 37644488 37644488 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:37644488T>C ENST00000356958.4 - 5 571 c.313A>G c.(313-315)Aat>Gat p.N105D ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTACATTGATTATGGTCCCAT 0.323000 629 599 0 0 0.870114 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383275 39383275 + Silent SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:39383275C>G ENST00000377721.3 + 1 376 c.369C>G c.(367-369)ccC>ccG p.P123P KRTAP9-2_ENST00000455970.2_Silent_p.P107P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 123 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTACTACCCCACGACTGTCT 0.627000 7 1041 0 0 0.307466 0 0 POLR2G 5436 broad.mit.edu 37 11 62530469 62530469 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:62530469G>A ENST00000301788.7 + 3 358 c.253G>A c.(253-255)Gtg>Atg p.V85M NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 85 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding lung(3) 3 AGGGGAGGTCGTGGATGCTGT 0.517000 5 383 0 0 0.248553 0 0 ADAM22 53616 broad.mit.edu 37 7 87564445 87564445 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:87564445G>A ENST00000398204.4 + 2 513 c.190G>A c.(190-192)Gaa>Aaa p.E64K ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 64 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CGGCGAAGACGAAAGTCGGCA 0.687000 92 329 0 0 0.870114 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 13 695 0 0 0.706142 0 0 SOHLH2 54937 broad.mit.edu 37 13 36744857 36744857 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:36744857C>T ENST00000379881.3 - 10 1156 c.1068G>A c.(1066-1068)gcG>gcA p.A356A SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TCAGAGACAGCGCTGCACTGG 0.388000 300 495 0 0 0.870114 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 380 0 0 0.184627 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 11 1962 0 0 0.307466 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 5 569 0 0 0.184627 0 0 RBM23 0 broad.mit.edu 37 14 23374621 23374621 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:23374621C>T ENST00000359890.3 - 7 692 c.497G>A c.(496-498)cGc>cAc p.R166H RBM23_ENST00000399922.2_Missense_Mutation_p.R150H|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 166 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GAAAACTGTGCGGGCATCACG 0.507000 7 785 0 0 0.278610 0 0 FMN2 56776 broad.mit.edu 37 1 240371009 240371009 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:240371009T>C ENST00000319653.9 + 5 3127 c.2897T>C c.(2896-2898)cTt>cCt p.L966P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 966 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGCATACCCCTTCCTCCCCCT 0.701000 17 339 0 0 0.557998 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278842 36278842 + Silent SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:36278842A>C ENST00000007510.4 + 21 3519 c.3375A>C c.(3373-3375)tcA>tcC p.S1125S ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1125 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TTGGCCAATCACCCCCACTCC 0.667000 27 155 0 0 0.769981 0 0 PSG9 5678 broad.mit.edu 37 19 43773549 43773549 + Missense_Mutation SNP C C T rs142118461 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:43773549C>T ENST00000244293.7 - 1 101 c.35G>A c.(34-36)cGc>cAc p.R12H PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 12 female pregnancy extracellular region p.R12H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CCAGGTGATGCGCTGTGTGCA 0.622000 7 1362 0 0 0.150653 0 0 ALG1L13P 0 broad.mit.edu 37 8 8095990 8095990 + RNA SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:8095990C>G ENST00000523017.1 - 0 608 CCAGGAGCCCCGAGACCTGCA 0.647000 5 23 0 0 0.248553 0 0 DUSP6 1848 broad.mit.edu 37 12 89743153 89743153 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:89743153C>A ENST00000279488.7 - 3 2255 c.1024G>T c.(1024-1026)Gac>Tac p.D342Y DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 342 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CTCTCGAAGTCCAGCAGCTGA 0.478000 269 227 4.83926e-127 5.31138e-127 0.870114 1 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 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 p.T460A(1) 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 CAAGGAGCCTACACCCACCAC 0.657000 16 1164 0 0 0.575678 0 0 ADCK5 203054 broad.mit.edu 37 8 145616829 145616829 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:145616829G>A ENST00000308860.6 + 8 892 c.848G>A c.(847-849)cGc>cAc p.R283H ADCK5_ENST00000526231.2_3'UTR NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 283 Protein kinase. R -> G (in Ref. 2; AAH85013). integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) AATGAGGGCCGCAACGCAGAG 0.677000 3 42 0 0 0.115264 0 0 MYH13 8735 broad.mit.edu 37 17 10212619 10212619 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:10212619G>A ENST00000418404.3 - 34 5264 c.5101C>T c.(5101-5103)Cgg>Tgg p.R1701W MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W|MYH13_ENST00000570743.1_Missense_Mutation_p.R1701W Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1701 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGCGGGTCCGCTCCGTCTGT 0.657000 73 144 0 0 0.870114 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 9 282 0 0 0.479597 0 0 XKR7 343702 broad.mit.edu 37 20 30584387 30584387 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:30584387C>T ENST00000217299.3 + 3 1041 c.867C>T c.(865-867)gaC>gaT p.D289D NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 289 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACTCGCGGGACGACAAGCGGC 0.701000 72 197 0 0 0.870114 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974786 21974786 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:21974786T>C ENST00000304494.5 - 1 311 c.41A>G c.(40-42)gAc>gGc p.D14G CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 14 D -> E (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGCCAGCCAGTCAGCCGAAGG 0.761000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 162 87 0 0 0.870114 0 0 ARAF 369 broad.mit.edu 37 X 47426043 47426043 + Missense_Mutation SNP G G A rs66933407 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:47426043G>A ENST00000377045.4 + 7 757 c.563G>A c.(562-564)cGc>cAc p.R188H ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 188 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.R188H(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GGCAGCCCCCGCACCCAGCAC 0.622000 71 101 0 0 0.870114 0 0 AC093642.5 0 broad.mit.edu 37 2 243037115 243037115 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:243037115A>G ENST00000456398.1 + 0 247 GGCTGGAAGAATTGTGAATCT 0.398000 7 585 0 0 0.717897 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:7577568C>T ENST00000420246.2 - 7 845 c.713G>A c.(712-714)tGt>tAt p.C238Y TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 144 103 0 0 0.870114 0 0 MFSD7 84179 broad.mit.edu 37 4 677059 677059 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:677059G>A ENST00000322224.4 - 8 1404 c.1091C>T c.(1090-1092)gCg>gTg p.A364V MFSD7_ENST00000404286.2_Missense_Mutation_p.A365V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A246V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A300V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A268V Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 365 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 ACACTCGACCGCCAACTCCAT 0.652000 7 584 0 0 0.248553 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110585 33110585 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:33110585T>C ENST00000267068.3 - 2 744 c.580A>G c.(580-582)Aaa>Gaa p.K194E N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 194 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TCAGATTCTTTACAACTGTTC 0.299000 147 250 0 0 0.870114 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 16 280 0 0 0.557998 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 11 1991 0 0 0.248553 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 10 1494 0 0 0.307466 0 0 FLNA 0 broad.mit.edu 37 X 153587767 153587767 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:153587767C>A ENST00000422373.1 - 25 4398 c.4150G>T c.(4150-4152)Ggc>Tgc p.G1384C FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C|FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1384 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGCCCGTGCCAGCTCCCCTG 0.647000 554 1076 2.0457e-115 2.22359e-115 0.870114 1 0 TOPBP1 11073 broad.mit.edu 37 3 133327737 133327737 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:133327737G>A ENST00000260810.5 - 26 4374 c.4243C>T c.(4243-4245)Ctt>Ttt p.L1415F NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1415 BRCT 8. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CCTGACTGAAGAAGGCGTTTG 0.368000 Other conserved DNA damage response genes 86 177 0 0 0.870114 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 15 1771 1.58986e-06 1.65611e-06 0.361761 1 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 8 632 0 0 0.335167 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 14 1541 0 0 0.411799 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr21:46011400G>A ENST00000400368.1 - 1 986 c.966C>T c.(964-966)tcC>tcT p.S322S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament p.S322S(5) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGCACCACAGGAGGGGACGG 0.692000 6 493 0 0 0.335167 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 5 193 0 0 0.184627 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 17 2137 8.12818e-05 8.38918e-05 0.248553 1 0 UBC 7316 broad.mit.edu 37 12 125396503 125396503 + Silent SNP G G A rs6657 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:125396503G>A ENST00000536769.1 - 1 3391 c.1815C>T c.(1813-1815)ctC>ctT p.L605L UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000339647.5_Silent_p.L605L P0CG48 UBC_HUMAN ubiquitin C 605 Ubiquitin-like 8. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L605L(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.537000 8 583 0 0 0.335167 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 8 1107 0 0 0.335167 0 0 TP73 7161 broad.mit.edu 37 1 3645962 3645962 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:3645962G>A ENST00000378295.4 + 10 1301 c.1146G>A c.(1144-1146)ccG>ccA p.P382P TP73_ENST00000354437.4_Silent_p.P382P|TP73_ENST00000378290.4_Silent_p.P311P|TP73_ENST00000346387.4_Silent_p.P382P|TP73_ENST00000378280.1_Silent_p.P333P|TP73_ENST00000378288.4_Silent_p.P333P|TP73_ENST00000604479.1_Silent_p.P382P|TP73_ENST00000357733.3_Silent_p.P382P|TP73_ENST00000378285.1_Silent_p.P333P|TP73_ENST00000603362.1_Silent_p.P382P|TP73_ENST00000604074.1_Silent_p.P382P NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 382 Oligomerization (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) AGTTGGTGCCGCAGCCACTGG 0.592000 6 497 0 0 0.248553 0 0 WDR31 114987 broad.mit.edu 37 9 116093321 116093321 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:116093321G>A ENST00000374193.4 - 4 438 c.192C>T c.(190-192)acC>acT p.T64T WDR31_ENST00000341761.4_Silent_p.T63T|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Intron NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 64 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 CGACAGAGACGGTATCCATGT 0.428000 5 311 0 0 0.217242 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 5 344 0 0 0.184627 0 0 NLGN2 57555 broad.mit.edu 37 17 7318050 7318050 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:7318050C>T ENST00000302926.2 + 4 800 c.727C>T c.(727-729)Cgc>Tgc p.R243C NLGN2_ENST00000575301.1_Missense_Mutation_p.R243C NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 243 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CCAGGCCCTGCGCTGGCTCAG 0.607000 7 645 0 0 0.307466 0 0 COX8C 341947 broad.mit.edu 37 14 93813699 93813699 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:93813699G>A ENST00000342144.2 + 1 163 c.85G>A c.(85-87)Gcc>Acc p.A29T UNC79_ENST00000256339.4_Intron NM_182971.2 NP_892016.1 Q7Z4L0 COX8C_HUMAN cytochrome c oxidase subunit VIIIC 29 integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity large_intestine(1)|lung(1)|prostate(2)|skin(1) 5 all_cancers(154;0.083) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) TCCCCGCTTCGCCCACTCGGG 0.756000 6 134 0 0 0.217242 0 0 ZAN 7455 broad.mit.edu 37 7 100350487 100350487 + RNA SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100350487C>T ENST00000542585.1 + 0 2907 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACCCACCATCCCC 0.502000 11 2603 0 0 0.335167 0 0 IGSF8 93185 broad.mit.edu 37 1 160063798 160063798 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:160063798A>C ENST00000368086.1 - 3 822 c.606T>G c.(604-606)ttT>ttG p.F202L IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 202 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGATCGCCCAAAGGACACTG 0.637000 189 412 0 0 0.870114 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312365 205312365 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:205312365G>A ENST00000367156.3 - 5 1184 c.368C>T c.(367-369)aCg>aTg p.T123M KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 123 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) GCCTTTGGCCGTGACAGAAAT 0.592000 269 516 0 0 0.870114 0 0 ADD3 120 broad.mit.edu 37 10 111876161 111876161 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:111876161A>G ENST00000277900.8 + 4 844 c.479A>G c.(478-480)tAt>tGt p.Y160C ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 160 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GCAAATACCTATATCTCAGTG 0.403000 121 97 0 0 0.870114 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 14 626 8.10497e-08 8.52158e-08 0.592651 1 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 7 779 0 0 0.278610 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 6 306 3.09899e-07 3.24312e-07 0.307466 1 0 CDH24 64403 broad.mit.edu 37 14 23517662 23517662 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:23517662G>A ENST00000397359.3 - 13 2246 c.1987C>T c.(1987-1989)Cgg>Tgg p.R663W CDH24_ENST00000267383.5_Missense_Mutation_p.R663W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W|CDH24_ENST00000554034.1_Missense_Mutation_p.R625W NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 663 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TTCTGCCGCCGCAGGGCCACG 0.672000 8 833 0 0 0.307466 0 0 CLU 1191 broad.mit.edu 37 8 27463908 27463908 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:27463908C>T ENST00000316403.10 - 4 785 c.380G>A c.(379-381)cGc>cAc p.R127H CLU_ENST00000560366.1_Missense_Mutation_p.R179H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000546343.1_Missense_Mutation_p.R138H P10909 CLUS_HUMAN clusterin 127 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TCTGCAGACGCGTGCGTAGAA 0.572000 9 625 0 0 0.307466 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603586 10603586 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:10603586G>A ENST00000334534.5 + 8 966 c.786G>A c.(784-786)cgG>cgA p.R262R NM_001009608.1 NP_001009608.1 SLX4 interacting protein CTGGGGAGCGGTTAAAGACAG 0.517000 8 710 0 0 0.278610 0 0 MAML2 84441 broad.mit.edu 37 11 95724867 95724867 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:95724867G>A ENST00000524717.1 - 3 3444 c.2160C>T c.(2158-2160)ggC>ggT p.G720G NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 720 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CTGTGTTCTGGCCTACCACAG 0.428000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 136 256 0 0 0.870114 0 0 DLL1 28514 broad.mit.edu 37 6 170597430 170597430 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:170597430G>A ENST00000366756.3 - 4 900 c.567C>T c.(565-567)tcC>tcT p.S189S NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 189 DSL. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GGCAGAAAACGGAGCAGCCCT 0.632000 146 166 0 0 0.870114 0 0 MYH7 4625 broad.mit.edu 37 14 23885218 23885218 + Silent SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:23885218A>G ENST00000355349.3 - 34 5110 c.4948T>C c.(4948-4950)Ttg>Ctg p.L1650L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1650 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGTACCTTCAACAAGCTCTGG 0.582000 6 374 0 0 0.278610 0 0 MUC5B 727897 broad.mit.edu 37 11 1264405 1264405 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:1264405A>C ENST00000447027.1 + 31 6362 c.6304A>C c.(6304-6306)Acc>Ccc p.T2102P MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2099 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. A -> P (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGGGGACCACCCACACCGC 0.632000 14 102 0 0 0.870114 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|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, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 244 0 0 0.248553 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 12 1911 0 0 0.278610 0 0 GRID2 2895 broad.mit.edu 37 4 94006305 94006305 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:94006305G>A ENST00000282020.4 + 3 662 c.404G>A c.(403-405)cGg>cAg p.R135Q GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 135 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGACTCACCCGGAGCAACAGG 0.537000 220 441 0 0 0.870114 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 202 0 0 0.217242 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 6 393 0 0 0.278610 0 0 DEPDC1 55635 broad.mit.edu 37 1 68952619 68952619 + Splice_Site SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:68952619C>A ENST00000456315.2 - 6 884 c.e6+1 DEPDC1_ENST00000370966.5_Splice_Site NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ATTTAACTTACAATTTGCTAG 0.328000 120 275 1.08021e-59 1.1629e-59 0.870114 1 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 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) AACAGGCACAGTTTCTCTCTC 0.463000 7 1183 0 0 0.307466 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 8 572 0 0 0.307466 0 0 BCL11B 64919 broad.mit.edu 37 14 99641455 99641455 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:99641455A>C ENST00000345514.2 - 3 1771 c.1505T>G c.(1504-1506)gTg>gGg p.V502G BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 573 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gaccccgggcACCCCACCACC 0.711000 T TLX3 T-ALL 11 49 0 0 0.779181 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 61 27 2.43698e-19 2.59867e-19 0.870114 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 10 275 0 0 0.539581 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA AGTTCCAGGATATGACTATAA 0.264000 5 145 0 0 0.217242 0 0 MALAT1 0 broad.mit.edu 37 11 65268712 65268712 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:65268712T>G ENST00000534336.1 + 0 3480 NR_002819.2 TTTGTGGGGGTGGGGGCAAAA 0.393000 37 216 0 0 0.870114 0 0 COIL 8161 broad.mit.edu 37 17 55038183 55038183 + Missense_Mutation SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:55038183C>G ENST00000240316.4 - 1 232 c.198G>C c.(196-198)ttG>ttC p.L66F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 66 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) CGGCGGGGGGCAAGAGCCCCC 0.697000 14 62 0 0 0.796494 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 18 569 0 0 0.870114 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 6 461 0 0 0.307466 0 0 LRP1 4035 broad.mit.edu 37 12 57573330 57573330 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:57573330G>A ENST00000243077.3 + 29 5423 c.4957G>A c.(4957-4959)Gtc>Atc p.V1653I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1653 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) GGAGACAGTCGTCTCTGCAGG 0.632000 72 250 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:141766505C>T ENST00000475668.2 + 41 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.483000 6 626 0 0 0.248553 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 8 275 0 0 0.307466 0 0 PXDN 7837 broad.mit.edu 37 2 1670184 1670184 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:1670184C>T ENST00000252804.4 - 10 1143 c.1093G>A c.(1093-1095)Gcc>Acc p.A365T PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 365 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGCCTGTGGCGCTGCACTCC 0.587000 17 98 0 0 0.520397 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214264 11214264 + Missense_Mutation SNP C C G rs118170561 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:11214264C>G ENST00000533467.1 - 1 629 c.630G>C c.(628-630)caG>caC p.Q210H TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 210 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TGCCATGGAGCTGCATCTTTT 0.423000 7 1174 0 0 0.520397 0 0 ZNF626 199777 broad.mit.edu 37 19 20807517 20807517 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:20807517A>C ENST00000601440.1 - 4 1312 c.1166T>G c.(1165-1167)aTa>aGa p.I389R CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTATGAATTATCTTATGCGT 0.383000 6 415 0 0 0.248553 0 0 MYT1 4661 broad.mit.edu 37 20 62839371 62839371 + Missense_Mutation SNP T T A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:62839371T>A ENST00000536311.1 + 7 1186 c.822T>A c.(820-822)gaT>gaA p.D274E MYT1_ENST00000328439.1_Missense_Mutation_p.D274E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 274 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D274_E275delDE(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggatgaagaagagg 0.572000 5 175 0 0 0.184627 0 0 UGT1A4 0 broad.mit.edu 37 2 234627639 234627639 + Missense_Mutation SNP C C T rs141408391 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:234627639C>T ENST00000373409.3 + 1 216 c.173C>T c.(172-174)gCg>gTg p.A58V UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GGCCACCAGGCGGTGGTCCTC 0.572000 119 168 0 0 0.870114 0 0 MPP5 64398 broad.mit.edu 37 14 67787835 67787835 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:67787835G>A ENST00000261681.4 + 13 2260 c.1599G>A c.(1597-1599)cgG>cgA p.R533R ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.R499R NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 533 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding p.R533R(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTGTTTCGCGGCAAGCATTCG 0.443000 6 606 0 0 0.217242 0 0 CLCN5 1184 broad.mit.edu 37 X 49854844 49854844 + Missense_Mutation SNP G G A rs138935720 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:49854844G>A ENST00000376088.3 + 13 2457 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M|CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 536 CBS 1. excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) AGAATACATCGTGCCTCTGAT 0.502000 396 717 0 0 0.870114 0 0 AQP7 364 broad.mit.edu 37 9 33386412 33386412 + Missense_Mutation SNP A A T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:33386412A>T ENST00000537089.1 - 4 438 c.120T>A c.(118-120)agT>agA p.S40R AQP7_ENST00000377425.4_Missense_Mutation_p.S75R|AQP7_ENST00000541274.1_Missense_Mutation_p.S40R|AQP7_ENST00000539936.1_Missense_Mutation_p.S132R O14520 AQP7_HUMAN aquaporin 7 132 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TGTAGAAGAGACTGTAGATGG 0.577000 4 100 0 0 0.217242 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25138811 25138811 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:25138811C>A ENST00000320152.6 - 9 668 c.640G>T c.(640-642)Gtc>Ttc p.V214F PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 214 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TCATTGATGACGCATATGTGC 0.378000 185 217 4.48832e-83 4.85516e-83 0.870114 1 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 9 1089 0 0 0.248553 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 3 47 0 0 0.387290 0 0 OR2A14 135941 broad.mit.edu 37 7 143826872 143826872 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:143826872G>A ENST00000408899.2 + 1 722 c.667G>A c.(667-669)Gcc>Acc p.A223T NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CATCCTGGCCGCCATCTTGAG 0.607000 6 766 0 0 0.217242 0 0 IL12B 3593 broad.mit.edu 37 5 158750144 158750144 + Silent SNP G G A rs142017503 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:158750144G>A ENST00000231228.2 - 3 737 c.282C>T c.(280-282)ggC>ggT p.G94G NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 94 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTAGAACCTCGCCTCCTTTGT 0.478000 119 224 0 0 0.870114 0 0 STAC 6769 broad.mit.edu 37 3 36485031 36485031 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:36485031C>A ENST00000273183.3 + 2 587 c.287C>A c.(286-288)cCc>cAc p.P96H STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.P96H NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 96 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 ACGTCCACACCCGCCAGGGCT 0.557000 6 721 8.12818e-05 8.38918e-05 0.248553 1 0 HR 55806 broad.mit.edu 37 8 21986391 21986391 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:21986391C>T ENST00000381418.4 - 2 1773 c.293G>A c.(292-294)cGc>cAc p.R98H HR_ENST00000312841.8_Missense_Mutation_p.R98H NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 98 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTCCTTCCAGCGCAGTCCCTC 0.652000 32 298 0 0 0.769981 0 0 PRG4 10216 broad.mit.edu 37 1 186276240 186276240 + Silent SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:186276240T>C ENST00000445192.2 + 7 1434 c.1389T>C c.(1387-1389)acT>acC p.T463T PRG4_ENST00000367483.4_Silent_p.T422T|PRG4_ENST00000367485.4_Silent_p.T370T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T420T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 463 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 p.T463T(3) 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 CACCCACCACTCCCAAGGAGC 0.657000 32 1120 0 0 0.870114 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 4 27 0 0 0.150653 0 0 LRIF1 55791 broad.mit.edu 37 1 111494596 111494596 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:111494596G>A ENST00000369763.4 - 2 1300 c.910C>T c.(910-912)Ctt>Ttt p.L304F LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 ACAGGAACAAGAGATGGCGTA 0.353000 155 315 0 0 0.870114 0 0 FAM86JP 0 broad.mit.edu 37 3 125647570 125647570 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:125647570T>C ENST00000485843.1 + 0 715 NR_024251.1 AATCAGGAACTACAAACTGCC 0.428000 4 110 0 0 0.150653 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148802993 148802993 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:148802993A>G ENST00000336498.3 + 10 1183 c.944A>G c.(943-945)gAc>gGc p.D315G NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 315 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTGCAGGGGGACGGAGAGGTG 0.408000 7 779 0 0 0.278610 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 14 80 0 0 0.870114 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 15 109 0 0 0.750413 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 4 116 0 0 0.150653 0 0 HR 55806 broad.mit.edu 37 8 21986391 21986391 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:21986391C>T ENST00000381418.4 - 2 1773 c.293G>A c.(292-294)cGc>cAc p.R98H HR_ENST00000312841.8_Missense_Mutation_p.R98H NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 98 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTCCTTCCAGCGCAGTCCCTC 0.652000 32 298 0 0 0.769981 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083616 15083616 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:15083616C>T ENST00000598504.1 - 4 1466 c.107G>A c.(106-108)cGc>cAc p.R36H SLC1A6_ENST00000430939.2_Silent_p.A40A|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R36H|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 36 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CAGGCGCGTGCGCAGTGCTCT 0.677000 4 105 0 0 0.150653 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1186 0 0 0.335167 0 0 KIAA0753 9851 broad.mit.edu 37 17 6524291 6524291 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:6524291G>T ENST00000361413.3 - 7 1490 c.1132C>A c.(1132-1134)Ctg>Atg p.L378M KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 378 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TTTGGTGACAGTTTCTTTTCC 0.373000 17 255 0.00229938 0.00235386 0.624587 1 0 MST1L 0 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 16 389 1.30998e-17 1.40774e-17 0.812448 1 0 BCL11B 64919 broad.mit.edu 37 14 99641460 99641460 + Silent SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:99641460A>C ENST00000345514.2 - 3 1766 c.1500T>G c.(1498-1500)ggT>ggG p.G500G BCL11B_ENST00000357195.3_Silent_p.G571G|BCL11B_ENST00000443726.2_Silent_p.G377G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 571 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) cgggcACCCCACCACCGCCGT 0.706000 T TLX3 T-ALL 11 40 0 0 0.853193 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974782 21974782 + Nonsense_Mutation SNP C C T rs138677674 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:21974782C>T ENST00000304494.5 - 1 315 c.45G>A c.(43-45)tgG>tgA p.W15* CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 15 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGTGGCCAGCCAGTCAGCCG 0.756000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 167 91 0 0 0.870114 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664684 160664684 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:160664684C>T ENST00000366953.3 - 7 1457 c.1199G>A c.(1198-1200)cGc>cAc p.R400H SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 400 R -> C (lower Vmax and reduced Ki value for TBA inhibition of MPP; dbSNP:rs8177516). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GCGTCCGATGCGGTCGATGGT 0.512000 6 532 0 0 0.217242 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564293 64564293 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:64564293G>A ENST00000294066.2 - 21 1571 c.1480C>T c.(1480-1482)Cct>Tct p.P494S MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 494 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CGAGTAACAGGGTGAATCCAG 0.637000 110 229 0 0 0.870114 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 26 341 9.78306e-22 1.06188e-21 0.740014 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 686 0 0 0.278610 0 0 LRRN2 10446 broad.mit.edu 37 1 204587040 204587040 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:204587040C>T ENST00000367175.1 - 1 4293 c.2081G>A c.(2080-2082)aGg>aAg p.R694K LRRN2_ENST00000367177.3_Missense_Mutation_p.R694K|LRRN2_ENST00000367176.3_Missense_Mutation_p.R694K O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 694 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGGCAGCTTCCTCCCTGGATT 0.587000 9 996 0 0 0.307466 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110585 33110585 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:33110585T>C ENST00000267068.3 - 2 744 c.580A>G c.(580-582)Aaa>Gaa p.K194E N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 194 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TCAGATTCTTTACAACTGTTC 0.299000 147 250 0 0 0.870114 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076866 73076866 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:73076866C>T ENST00000263674.3 + 20 6219 c.5869C>T c.(5869-5871)Cgg>Tgg p.R1957W NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1957 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CAGCTGCCCACGGGCACCACT 0.652000 99 215 0 0 0.870114 0 0 PANK4 55229 broad.mit.edu 37 1 2444410 2444410 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:2444410C>T ENST00000378466.3 - 13 1656 c.1644G>A c.(1642-1644)ctG>ctA p.L548L PANK4_ENST00000435556.3_Silent_p.L509L NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 548 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CCTCCCAGCCCAGCGCGTCCA 0.677000 323 624 0 0 0.870114 0 0 FCGBP 8857 broad.mit.edu 37 19 40363276 40363276 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:40363276C>T ENST00000221347.6 - 32 14801 c.14794G>A c.(14794-14796)Gag>Aag p.E4932K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4932 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACAGCCTCGCCGTCCACG 0.652000 116 103 0 0 0.870114 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 6 393 0 0 0.278610 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 16 283 0 0 0.592651 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 9 851 0 0 0.411799 0 0 ZAN 7455 broad.mit.edu 37 7 100349991 100349991 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100349991T>C ENST00000542585.1 + 0 2411 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.S755P(5) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCCCAGAAAA 0.517000 64 1958 0 0 0.819951 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 5 204 0 0 0.387290 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 7 837 0 0 0.278610 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 154 0 0 0.150653 0 0 PLCD4 84812 broad.mit.edu 37 2 219500518 219500518 + Splice_Site SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:219500518G>C ENST00000450993.2 + 14 2235 c.e14-1 PLCD4_ENST00000417849.1_Splice_Site|PLCD4_ENST00000432688.1_Splice_Site NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCTGACTACAGGTGATCAGCG 0.532000 47 54 0 0 0.870114 0 0 AJAP1 55966 broad.mit.edu 37 1 4772528 4772528 + Missense_Mutation SNP G G A rs138033447 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:4772528G>A ENST00000378191.4 + 2 979 c.598G>A c.(598-600)Gtt>Att p.V200I AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 200 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ATTTCCGGGCGTTTACGGCCC 0.652000 55 86 0 0 0.870114 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276936 71276936 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:71276936G>A ENST00000398531.1 + 1 328 c.303G>A c.(301-303)aaG>aaA p.K101K KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 101 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTCCAAGGGGGGCTGTG 0.692000 15 1092 0 0 0.500413 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 17 815 0 0 0.717897 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E 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 16 437 0 0 0.654019 0 0 MYO9B 4650 broad.mit.edu 37 19 17213029 17213029 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:17213029C>A ENST00000595618.1 + 2 654 c.502C>A c.(502-504)Cac>Aac p.H168N MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 168 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GAACCTCAAGCACCGCTTCCT 0.572000 325 320 2.03819e-121 2.25768e-121 0.870114 1 0 ARHGDIB 397 broad.mit.edu 37 12 15095522 15095522 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:15095522G>A ENST00000228945.4 - 6 684 c.540C>T c.(538-540)gaC>gaT p.D180D ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000541644.1_Silent_p.D180D NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 180 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 GCTTGTCATCGTCGGTGAAGA 0.567000 556 213 0 0 0.870114 0 0 IGHV4-61 0 broad.mit.edu 37 14 107095544 107095544 + RNA SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:107095544G>A ENST00000390630.2 - 0 118 GGAGGAGGAAGAACCACAGGT 0.527000 8 366 0 0 0.667858 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311108 50311108 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:50311108A>G ENST00000418948.1 + 0 1156 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGGTTGGGGAGGGGGGCAGC 0.701000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 207 0 0 0.520397 0 0 CELSR3 1951 broad.mit.edu 37 3 48699138 48699138 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:48699138C>T ENST00000544264.1 - 1 1210 c.930G>A c.(928-930)gcG>gcA p.A310A CELSR3_ENST00000164024.4_Silent_p.A310A Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 310 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.A310A(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGCCCGGTTCGCCGAGGTTA 0.706000 101 498 0 0 0.870114 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306490 2306490 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:2306490G>A ENST00000290974.2 - 8 1916 c.1577C>T c.(1576-1578)tCc>tTc p.S526F ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 526 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 AGAGTCCAGGGAAGTGGGCGA 0.667000 161 380 0 0 0.870114 0 0 POM121L12 285877 broad.mit.edu 37 7 53103972 53103972 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:53103972G>A ENST00000408890.4 + 1 624 c.608G>A c.(607-609)aGc>aAc p.S203N NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 203 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GTCTCAGACAGCAAGGGTGGC 0.667000 218 401 0 0 0.870114 0 0 CUX1 1523 broad.mit.edu 37 7 101870648 101870648 + Splice_Site SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:101870648A>C ENST00000360264.3 + 21 3185 c.3163_splice c.e21-1 p.E1055_splice CUX1_ENST00000292535.7_Splice_Site_p.E1044_splice|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942_splice|CUX1_ENST00000550008.2_Splice_Site_p.E988_splice|CUX1_ENST00000556210.1_Splice_Site_p.E886_splice|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Splice_Site_p.E1022_splice|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1044 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TAATTACAGAAAGCACTCCAA 0.512000 859 1728 0 0 0.870114 0 0 RFPL1 5988 broad.mit.edu 37 22 29837973 29837973 + Silent SNP T T C rs61731583 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:29837973T>C ENST00000354373.2 + 2 1025 c.816T>C c.(814-816)agT>agC p.S272S RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 272 B30.2/SPRY. zinc ion binding p.S272S(1) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CATTCAGGAGTGTCTCTGCTG 0.473000 9 447 0 0 0.654019 0 0 IGHV4-61 0 broad.mit.edu 37 14 107095556 107095556 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:107095556T>C ENST00000390630.2 - 0 106 ACCACAGGTGTTTCATGTTCT 0.532000 8 339 0 0 0.681144 0 0 SLX4 84464 broad.mit.edu 37 16 3639059 3639059 + Missense_Mutation SNP G G A rs149362820 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:3639059G>A ENST00000294008.3 - 12 5220 c.4580C>T c.(4579-4581)cCg>cTg p.P1527L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1527 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CATCTGGGCCGGAGGAGGGGT 0.622000 Direct reversal of damage 10 1374 0 0 0.307466 0 0 MAML2 84441 broad.mit.edu 37 11 95724867 95724867 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:95724867G>A ENST00000524717.1 - 3 3444 c.2160C>T c.(2158-2160)ggC>ggT p.G720G NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 720 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CTGTGTTCTGGCCTACCACAG 0.428000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 136 256 0 0 0.870114 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 11 852 0 0 0.435327 0 0 TTC30B 150737 broad.mit.edu 37 2 178416956 178416956 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:178416956G>A ENST00000408939.2 - 1 786 c.536C>T c.(535-537)gCc>gTc p.A179V NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 179 Missing (in Ref. 1; BAB70953). cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTGCAGGGCGGCAAAAAACTT 0.542000 7 984 0 0 0.217242 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147009 161147009 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:161147009A>G ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CCGAATCAGGATGTTGACCTT 0.438000 8 619 0 0 0.387290 0 0 ZNF761 388561 broad.mit.edu 37 19 53959137 53959137 + RNA SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:53959137G>T ENST00000454407.1 + 0 1829 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CATCGTAGACGTCATACTGGA 0.393000 7 1065 0.184627 0.186353 0.184627 1 0 ZNF585A 199704 broad.mit.edu 37 19 37644488 37644488 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:37644488T>C ENST00000356958.4 - 5 571 c.313A>G c.(313-315)Aat>Gat p.N105D ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D Q6P3V2 Z585A_HUMAN zinc finger protein 585A 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTACATTGATTATGGTCCCAT 0.323000 629 599 0 0 0.870114 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383275 39383275 + Silent SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:39383275C>G ENST00000377721.3 + 1 376 c.369C>G c.(367-369)ccC>ccG p.P123P KRTAP9-2_ENST00000455970.2_Silent_p.P107P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 123 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTACTACCCCACGACTGTCT 0.627000 7 1041 0 0 0.307466 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:29977359G>A ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 31 215 0 0 0.769981 0 0 RPL32P3 0 broad.mit.edu 37 3 129116292 129116292 + RNA SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:129116292A>C ENST00000514355.1 - 0 412 lung(1) 1 AGCAAATCCCACCCTGCCAGT 0.512000 36 450 0 0 0.870114 0 0 POLR2G 5436 broad.mit.edu 37 11 62530469 62530469 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:62530469G>A ENST00000301788.7 + 3 358 c.253G>A c.(253-255)Gtg>Atg p.V85M NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 85 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding lung(3) 3 AGGGGAGGTCGTGGATGCTGT 0.517000 5 383 0 0 0.248553 0 0 ADAM22 53616 broad.mit.edu 37 7 87564445 87564445 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:87564445G>A ENST00000398204.4 + 2 513 c.190G>A c.(190-192)Gaa>Aaa p.E64K ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K|ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 64 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CGGCGAAGACGAAAGTCGGCA 0.687000 92 329 0 0 0.870114 0 0 SOHLH2 54937 broad.mit.edu 37 13 36744857 36744857 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:36744857C>T ENST00000379881.3 - 10 1156 c.1068G>A c.(1066-1068)gcG>gcA p.A356A SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TCAGAGACAGCGCTGCACTGG 0.388000 300 495 0 0 0.870114 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 380 0 0 0.184627 0 0 DPPA3P2 0 broad.mit.edu 37 14 36841171 36841171 + RNA SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:36841171A>G ENST00000557188.1 + 0 802 CTATGCTAGTATAGACTATAC 0.323000 8 195 0 0 0.278610 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 5 569 0 0 0.184627 0 0 RBM23 0 broad.mit.edu 37 14 23374621 23374621 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:23374621C>T ENST00000359890.3 - 7 692 c.497G>A c.(496-498)cGc>cAc p.R166H RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H|RBM23_ENST00000555209.1_5'UTR NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 166 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GAAAACTGTGCGGGCATCACG 0.507000 7 785 0 0 0.278610 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278842 36278842 + Silent SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:36278842A>C ENST00000007510.4 + 21 3519 c.3375A>C c.(3373-3375)tcA>tcC p.S1125S ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1125 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TTGGCCAATCACCCCCACTCC 0.667000 27 155 0 0 0.769981 0 0 ZAN 7455 broad.mit.edu 37 7 100350474 100350474 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100350474T>C ENST00000542585.1 + 0 2894 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.S916P(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCACGGAAAA 0.502000 29 2527 0 0 0.693898 0 0 PSG9 5678 broad.mit.edu 37 19 43773549 43773549 + Missense_Mutation SNP C C T rs142118461 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:43773549C>T ENST00000244293.7 - 1 101 c.35G>A c.(34-36)cGc>cAc p.R12H PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 12 female pregnancy extracellular region p.R12H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CCAGGTGATGCGCTGTGTGCA 0.622000 7 1362 0 0 0.278610 0 0 DUSP6 1848 broad.mit.edu 37 12 89743153 89743153 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:89743153C>A ENST00000279488.7 - 3 2255 c.1024G>T c.(1024-1026)Gac>Tac p.D342Y DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 342 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CTCTCGAAGTCCAGCAGCTGA 0.478000 269 227 4.83926e-127 5.41596e-127 0.870114 1 0 PRTFDC1 56952 broad.mit.edu 37 10 25138811 25138811 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:25138811C>A ENST00000320152.6 - 9 668 c.640G>T c.(640-642)Gtc>Ttc p.V214F PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 214 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TCATTGATGACGCATATGTGC 0.378000 185 217 4.48832e-83 4.94632e-83 0.870114 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 9 282 0 0 0.479597 0 0 XKR7 343702 broad.mit.edu 37 20 30584387 30584387 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:30584387C>T ENST00000217299.3 + 3 1041 c.867C>T c.(865-867)gaC>gaT p.D289D NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 289 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACTCGCGGGACGACAAGCGGC 0.701000 72 197 0 0 0.870114 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974786 21974786 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:21974786T>C ENST00000304494.5 - 1 311 c.41A>G c.(40-42)gAc>gGc p.D14G CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 14 D -> E (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGCCAGCCAGTCAGCCGAAGG 0.761000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 162 87 0 0 0.870114 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 6 306 3.09899e-07 3.20278e-07 0.307466 1 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 6 834 0.00448238 0.00456695 0.307466 1 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 32 1223 0 0 0.796494 0 0 ARAF 369 broad.mit.edu 37 X 47426043 47426043 + Missense_Mutation SNP G G A rs66933407 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:47426043G>A ENST00000377045.4 + 7 757 c.563G>A c.(562-564)cGc>cAc p.R188H ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 188 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.R188H(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GGCAGCCCCCGCACCCAGCAC 0.622000 71 101 0 0 0.870114 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:7577568C>T ENST00000420246.2 - 7 845 c.713G>A c.(712-714)tGt>tAt p.C238Y TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 144 103 0 0 0.870114 0 0 MFSD7 84179 broad.mit.edu 37 4 677059 677059 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:677059G>A ENST00000322224.4 - 8 1404 c.1091C>T c.(1090-1092)gCg>gTg p.A364V MFSD7_ENST00000404286.2_Missense_Mutation_p.A365V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A300V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A246V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A268V Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 365 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 ACACTCGACCGCCAACTCCAT 0.652000 7 584 0 0 0.248553 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 10 1494 0 0 0.335167 0 0 FLNA 0 broad.mit.edu 37 X 153587767 153587767 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:153587767C>A ENST00000422373.1 - 25 4398 c.4150G>T c.(4150-4152)Ggc>Tgc p.G1384C FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1384 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGCCCGTGCCAGCTCCCCTG 0.647000 554 1076 4.0129e-122 4.46797e-122 0.870114 1 0 TOPBP1 11073 broad.mit.edu 37 3 133327737 133327737 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:133327737G>A ENST00000260810.5 - 26 4374 c.4243C>T c.(4243-4245)Ctt>Ttt p.L1415F NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1415 BRCT 8. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CCTGACTGAAGAAGGCGTTTG 0.368000 Other conserved DNA damage response genes 86 177 0 0 0.870114 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 12 245 0 0 0.834066 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 15 1771 9.16793e-09 9.61297e-09 0.520397 1 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 8 632 0 0 0.335167 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 14 1541 0 0 0.435327 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 5 193 0 0 0.184627 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 17 2137 1.26484e-09 1.33925e-09 0.278610 1 0 UBC 7316 broad.mit.edu 37 12 125396503 125396503 + Silent SNP G G A rs6657 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:125396503G>A ENST00000536769.1 - 1 3391 c.1815C>T c.(1813-1815)ctC>ctT p.L605L UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L P0CG48 UBC_HUMAN ubiquitin C 605 Ubiquitin-like 8. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L605L(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.537000 8 583 0 0 0.335167 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 8 1107 0 0 0.278610 0 0 TP73 7161 broad.mit.edu 37 1 3645962 3645962 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:3645962G>A ENST00000378295.4 + 10 1301 c.1146G>A c.(1144-1146)ccG>ccA p.P382P TP73_ENST00000604479.1_Silent_p.P382P|TP73_ENST00000604074.1_Silent_p.P382P|TP73_ENST00000378280.1_Silent_p.P333P|TP73_ENST00000357733.3_Silent_p.P382P|TP73_ENST00000378285.1_Silent_p.P333P|TP73_ENST00000354437.4_Silent_p.P382P|TP73_ENST00000603362.1_Silent_p.P382P|TP73_ENST00000378288.4_Silent_p.P333P|TP73_ENST00000346387.4_Silent_p.P382P|TP73_ENST00000378290.4_Silent_p.P311P NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 382 Oligomerization (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) AGTTGGTGCCGCAGCCACTGG 0.592000 6 497 0 0 0.248553 0 0 WDR31 114987 broad.mit.edu 37 9 116093321 116093321 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:116093321G>A ENST00000374193.4 - 4 438 c.192C>T c.(190-192)acC>acT p.T64T WDR31_ENST00000374195.3_Intron|WDR31_ENST00000341761.4_Silent_p.T63T|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 64 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 CGACAGAGACGGTATCCATGT 0.428000 5 311 0 0 0.217242 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 5 344 0 0 0.184627 0 0 NLGN2 57555 broad.mit.edu 37 17 7318050 7318050 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:7318050C>T ENST00000302926.2 + 4 800 c.727C>T c.(727-729)Cgc>Tgc p.R243C NLGN2_ENST00000575301.1_Missense_Mutation_p.R243C NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 243 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CCAGGCCCTGCGCTGGCTCAG 0.607000 7 645 0 0 0.307466 0 0 COX8C 341947 broad.mit.edu 37 14 93813699 93813699 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:93813699G>A ENST00000342144.2 + 1 163 c.85G>A c.(85-87)Gcc>Acc p.A29T UNC79_ENST00000256339.4_Intron NM_182971.2 NP_892016.1 Q7Z4L0 COX8C_HUMAN cytochrome c oxidase subunit VIIIC 29 integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity large_intestine(1)|lung(1)|prostate(2)|skin(1) 5 all_cancers(154;0.083) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) TCCCCGCTTCGCCCACTCGGG 0.756000 6 134 0 0 0.217242 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S 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 17 433 0 0 0.654019 0 0 ZAN 7455 broad.mit.edu 37 7 100350487 100350487 + RNA SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100350487C>T ENST00000542585.1 + 0 2907 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACCCACCATCCCC 0.502000 11 2603 0 0 0.248553 0 0 IGSF8 93185 broad.mit.edu 37 1 160063798 160063798 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:160063798A>C ENST00000368086.1 - 3 822 c.606T>G c.(604-606)ttT>ttG p.F202L IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L|IGSF8_ENST00000460351.1_5'UTR Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 202 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGATCGCCCAAAGGACACTG 0.637000 189 412 0 0 0.870114 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 33 218 0 0 0.788014 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473194 22473194 + RNA SNP G G C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:22473194G>C ENST00000557788.2 - 0 76 TCCTGGGCCCGACTCCTGCAG 0.617000 11 1064 0 0 0.592651 0 0 KIFC1 3833 broad.mit.edu 37 6 33374019 33374019 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:33374019G>A ENST00000428849.2 + 8 2033 c.1583G>A c.(1582-1584)cGc>cAc p.R528H NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 528 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GCTGTGGCCCGCACAGCCCAG 0.607000 7 844 0 0 0.278610 0 0 POLR2B 5431 broad.mit.edu 37 4 57876368 57876368 + Splice_Site SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:57876368T>G ENST00000510355.1 + 1 28 c.e1+2 POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000431623.2_Intron P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AAGTGGCAGGTAAGTTAAAGT 0.353000 13 88 0 0 0.592651 0 0 ADD3 120 broad.mit.edu 37 10 111876161 111876161 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:111876161A>G ENST00000277900.8 + 4 844 c.479A>G c.(478-480)tAt>tGt p.Y160C ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C|ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000497125.1_3'UTR NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 160 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GCAAATACCTATATCTCAGTG 0.403000 121 97 0 0 0.870114 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 14 626 8.10497e-08 8.4167e-08 0.592651 1 0 MYT1 4661 broad.mit.edu 37 20 62839371 62839371 + Missense_Mutation SNP T T A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:62839371T>A ENST00000536311.1 + 7 1186 c.822T>A c.(820-822)gaT>gaA p.D274E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.D274E Q01538 MYT1_HUMAN myelin transcription factor 1 274 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D274_E275delDE(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggatgaagaagagg 0.572000 5 175 0 0 0.184627 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659338 43659338 + Silent SNP C C T rs78146682 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:43659338C>T ENST00000374466.3 + 5 1340 c.1005C>T c.(1003-1005)acC>acT p.T335T NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 335 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.T335T(3) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACAATTACACCTTGGTCTCAT 0.403000 4 172 0 0 0.184627 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 27 344 0 0 0.740014 0 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 9 1397 0 0 0.278610 0 0 CLU 1191 broad.mit.edu 37 8 27463908 27463908 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:27463908C>T ENST00000316403.10 - 4 785 c.380G>A c.(379-381)cGc>cAc p.R127H CLU_ENST00000546343.1_Missense_Mutation_p.R138H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H|CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H P10909 CLUS_HUMAN clusterin 127 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TCTGCAGACGCGTGCGTAGAA 0.572000 9 625 0 0 0.307466 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603586 10603586 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:10603586G>A ENST00000334534.5 + 8 966 c.786G>A c.(784-786)cgG>cgA p.R262R NM_001009608.1 NP_001009608.1 SLX4 interacting protein CTGGGGAGCGGTTAAAGACAG 0.517000 8 710 0 0 0.278610 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312365 205312365 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:205312365G>A ENST00000367156.3 - 5 1184 c.368C>T c.(367-369)aCg>aTg p.T123M KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000537168.1_Intron NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 123 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) GCCTTTGGCCGTGACAGAAAT 0.592000 269 516 0 0 0.870114 0 0 DLL1 28514 broad.mit.edu 37 6 170597430 170597430 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:170597430G>A ENST00000366756.3 - 4 900 c.567C>T c.(565-567)tcC>tcT p.S189S NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 189 DSL. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GGCAGAAAACGGAGCAGCCCT 0.632000 146 166 0 0 0.870114 0 0 MUC5B 727897 broad.mit.edu 37 11 1264405 1264405 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:1264405A>C ENST00000447027.1 + 31 6362 c.6304A>C c.(6304-6306)Acc>Ccc p.T2102P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2099 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. A -> P (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGGGGACCACCCACACCGC 0.632000 14 102 0 0 0.870114 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 17 451 0 0 0.796494 0 0 GRID2 2895 broad.mit.edu 37 4 94006305 94006305 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:94006305G>A ENST00000282020.4 + 3 662 c.404G>A c.(403-405)cGg>cAg p.R135Q GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 135 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGACTCACCCGGAGCAACAGG 0.537000 220 441 0 0 0.870114 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393489.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 202 0 0 0.217242 0 0 DEPDC1 55635 broad.mit.edu 37 1 68952619 68952619 + Splice_Site SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:68952619C>A ENST00000456315.2 - 6 884 c.e6+1 DEPDC1_ENST00000370966.5_Splice_Site NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ATTTAACTTACAATTTGCTAG 0.328000 120 275 1.08021e-59 1.18439e-59 0.870114 1 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 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) AACAGGCACAGTTTCTCTCTC 0.463000 7 1183 0 0 0.307466 0 0 BCL11B 64919 broad.mit.edu 37 14 99641455 99641455 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:99641455A>C ENST00000345514.2 - 3 1771 c.1505T>G c.(1504-1506)gTg>gGg p.V502G BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 573 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gaccccgggcACCCCACCACC 0.711000 T TLX3 T-ALL 11 49 0 0 0.779181 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 10 275 0 0 0.539581 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGTTCCAGGATATGACTATAA 0.264000 5 145 0 0 0.217242 0 0 LRP1 4035 broad.mit.edu 37 12 57573330 57573330 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:57573330G>A ENST00000243077.3 + 29 5423 c.4957G>A c.(4957-4959)Gtc>Atc p.V1653I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1653 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) GGAGACAGTCGTCTCTGCAGG 0.632000 72 250 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:141766505C>T ENST00000475668.2 + 41 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.483000 6 626 0 0 0.248553 0 0 COIL 8161 broad.mit.edu 37 17 55038183 55038183 + Missense_Mutation SNP C C G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:55038183C>G ENST00000240316.4 - 1 232 c.198G>C c.(196-198)ttG>ttC p.L66F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 66 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) CGGCGGGGGGCAAGAGCCCCC 0.697000 14 62 0 0 0.796494 0 0 ZNF626 199777 broad.mit.edu 37 19 20807517 20807517 + Missense_Mutation SNP A A C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:20807517A>C ENST00000601440.1 - 4 1312 c.1166T>G c.(1165-1167)aTa>aGa p.I389R CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTATGAATTATCTTATGCGT 0.383000 6 415 0 0 0.248553 0 0 UGT1A4 0 broad.mit.edu 37 2 234627639 234627639 + Missense_Mutation SNP C C T rs141408391 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:234627639C>T ENST00000373409.3 + 1 216 c.173C>T c.(172-174)gCg>gTg p.A58V UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) GGCCACCAGGCGGTGGTCCTC 0.572000 119 168 0 0 0.870114 0 0 MPP5 64398 broad.mit.edu 37 14 67787835 67787835 + Silent SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:67787835G>A ENST00000261681.4 + 13 2260 c.1599G>A c.(1597-1599)cgG>cgA p.R533R MPP5_ENST00000555925.1_Silent_p.R499R|ATP6V1D_ENST00000553974.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 533 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding p.R533R(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTGTTTCGCGGCAAGCATTCG 0.443000 6 606 0 0 0.217242 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 4 130 0 0 0.387290 0 0 CLCN5 1184 broad.mit.edu 37 X 49854844 49854844 + Missense_Mutation SNP G G A rs138935720 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:49854844G>A ENST00000376088.3 + 13 2457 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M|CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 536 CBS 1. excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) AGAATACATCGTGCCTCTGAT 0.502000 396 717 0 0 0.870114 0 0 AQP7 364 broad.mit.edu 37 9 33386412 33386412 + Missense_Mutation SNP A A T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:33386412A>T ENST00000537089.1 - 4 438 c.120T>A c.(118-120)agT>agA p.S40R AQP7_ENST00000541274.1_Missense_Mutation_p.S40R|AQP7_ENST00000539936.1_Missense_Mutation_p.S132R|AQP7_ENST00000377425.4_Missense_Mutation_p.S75R O14520 AQP7_HUMAN aquaporin 7 132 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TGTAGAAGAGACTGTAGATGG 0.577000 4 100 0 0 0.217242 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 319 0 0 0.248553 0 0 MYH13 8735 broad.mit.edu 37 17 10212619 10212619 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:10212619G>A ENST00000418404.3 - 34 5264 c.5101C>T c.(5101-5103)Cgg>Tgg p.R1701W MYH13_ENST00000570743.1_Missense_Mutation_p.R1701W|MYH13_ENST00000252172.4_Missense_Mutation_p.R1701W Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1701 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGCGGGTCCGCTCCGTCTGT 0.657000 73 144 0 0 0.870114 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 7 524 0 0 0.278610 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 3 47 0 0 0.387290 0 0 OR2A14 135941 broad.mit.edu 37 7 143826872 143826872 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:143826872G>A ENST00000408899.2 + 1 722 c.667G>A c.(667-669)Gcc>Acc p.A223T NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CATCCTGGCCGCCATCTTGAG 0.607000 6 766 0 0 0.217242 0 0 IL12B 3593 broad.mit.edu 37 5 158750144 158750144 + Silent SNP G G A rs142017503 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:158750144G>A ENST00000231228.2 - 3 737 c.282C>T c.(280-282)ggC>ggT p.G94G NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 94 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTAGAACCTCGCCTCCTTTGT 0.478000 119 224 0 0 0.870114 0 0 STAC 6769 broad.mit.edu 37 3 36485031 36485031 + Missense_Mutation SNP C C A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:36485031C>A ENST00000273183.3 + 2 587 c.287C>A c.(286-288)cCc>cAc p.P96H STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.P96H NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 96 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 ACGTCCACACCCGCCAGGGCT 0.557000 6 721 8.12818e-05 8.36042e-05 0.248553 1 0 PXDN 7837 broad.mit.edu 37 2 1670184 1670184 + Missense_Mutation SNP C C T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:1670184C>T ENST00000252804.4 - 10 1143 c.1093G>A c.(1093-1095)Gcc>Acc p.A365T PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 365 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGCCTGTGGCGCTGCACTCC 0.587000 17 98 0 0 0.520397 0 0 LRIF1 55791 broad.mit.edu 37 1 111494596 111494596 + Missense_Mutation SNP G G A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:111494596G>A ENST00000369763.4 - 2 1300 c.910C>T c.(910-912)Ctt>Ttt p.L304F LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 ACAGGAACAAGAGATGGCGTA 0.353000 155 315 0 0 0.870114 0 0 RFPL3 10738 broad.mit.edu 37 22 32754250 32754250 + Silent SNP C C T rs145058885 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:32754250C>T ENST00000249007.4 + 1 397 c.192C>T c.(190-192)atC>atT p.I64I RFPL3_ENST00000397468.1_Silent_p.I35I|RFPL3_ENST00000382088.3_Silent_p.I35I NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 64 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TCAAGTGCATCAATTCGCTGC 0.532000 7 657 0 0 0.539581 0 0 FAM86JP 0 broad.mit.edu 37 3 125647570 125647570 + RNA SNP T T C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:125647570T>C ENST00000485843.1 + 0 715 NR_024251.1 AATCAGGAACTACAAACTGCC 0.428000 4 110 0 0 0.150653 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148802993 148802993 + Missense_Mutation SNP A A G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:148802993A>G ENST00000336498.3 + 10 1183 c.944A>G c.(943-945)gAc>gGc p.D315G NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 315 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTGCAGGGGGACGGAGAGGTG 0.408000 7 779 0 0 0.278610 0 0 RFPL3 10738 broad.mit.edu 37 22 32754256 32754256 + Silent SNP G G A rs61729170 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:32754256G>A ENST00000249007.4 + 1 403 c.198G>A c.(196-198)tcG>tcA p.S66S RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 66 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCATCAATTCGCTGCAGAAGG 0.537000 7 679 0 0 0.500413 0 0 EPHB2 2048 broad.mit.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - rs56871920 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:23240246delA ENST00000400191.3 + 17 3069 c.3051delA c.(3049-3051)ggfs p.G1017fs EPHB2_ENST00000374632.3_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 1017 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAAACGACGGAAAAAAAAAGG 0.498 7 116 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 16 1448 --- --- --- --- PEF1 553115 broad.mit.edu 37 1 32100889 32100890 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:32100889_32100890insG ENST00000373703.4 - 2 280_281 c.258_259insC c.(256-261)ccggggfs p.PG86fs PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Frame_Shift_Ins_p.PG86fs NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 86 9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) TAGGGGCCCCCGGGAGCTGCAC 0.604 16 525 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:35365852delC ENST00000373347.1 - 4 1398 c.1130delG c.(1129-1131)gtfs p.G377fs DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 377 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGTGGGGTAACCCCCCCAGTC 0.602 8 892 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 12 486 --- --- --- --- BMP8A 353500 broad.mit.edu 37 1 39988692 39988692 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:39988692delC ENST00000331593.5 + 6 1308 c.962delC c.(961-963)gcfs p.A321fs RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 321 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGGTCATCGCCCCCCAAGGC 0.642 8 1419 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 18 1301 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40735757 40735757 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:40735757delT ENST00000372759.3 + 5 750 c.585delT c.(583-585)tafs p.Y195fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 195 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) GGGGTGACTATTTTTTTATTT 0.333 8 1516 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42050222 42050222 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:42050222delT ENST00000372584.1 - 3 1261 c.247delA c.(247-249)ggfs p.R83fs HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.R83fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.R83fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.R83fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 83 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ATGGGGGGCCTTTTGGGGGGC 0.617 8 1672 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 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) CTTTGGCACCTTTTCCTACCA 0.627 7 2253 --- --- --- --- POMGNT1 55624 broad.mit.edu 37 1 46658575 46658575 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:46658575delA ENST00000371992.1 - 14 1858 c.1208delT c.(1207-1209)tcfs p.F403fs POMGNT1_ENST00000535522.1_Frame_Shift_Del_p.F381fs|POMGNT1_ENST00000371986.3_Frame_Shift_Del_p.F403fs|POMGNT1_ENST00000371984.3_Frame_Shift_Del_p.F403fs|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 403 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CCCTCACCTGAAAAAATCCAC 0.522 7 2460 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57537235 57537235 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:57537235delT ENST00000371236.2 - 6 781 c.518delA c.(517-519)agfs p.K173fs DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Intron O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 173 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTTGTGCCTTTTTTTCTAA 0.393 8 461 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 23 532 --- --- --- --- TYW3 127253 broad.mit.edu 37 1 75229742 75229744 + In_Frame_Del DEL ATG ATG - rs112765232 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:75229742_75229744delATG ENST00000370867.3 + 6 814_816 c.725_727delATG c.(724-729)aat>a p.ND242del TYW3_ENST00000457880.2_In_Frame_Del_p.ND209del|TYW3_ENST00000421739.2_In_Frame_Del_p.ND158del|TYW3_ENST00000479111.1_3'UTR NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 242 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 GAACTTGAAAATGATGATGATGA 0.330 8 659 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:84988200_84988201insT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GGTAAGTTTTCTTTTTTTTTCT 0.327 8 350 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 11 673 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTCGCTTTCTTTTTTTTTCT 0.337 7 387 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 9 1680 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 24 553 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 12 655 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144923716 144923716 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:144923716delT ENST00000529945.1 - 2 1670 c.1231delA c.(1231-1233)tcfs p.I411fs PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.I411fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.I314fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.I35fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.I248fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 248 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTTGCTGGATTTTTTCCTGG 0.453 T PDGFRB MPD 7 1730 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 7 572 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 9 1332 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 8 517 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_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 7 406 --- --- --- --- GPR161 23432 broad.mit.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - rs147976800 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:168054869delC ENST00000367838.1 - 8 1803 c.1490delG c.(1489-1491)gcfs p.G498fs GPR161_ENST00000367835.1_Frame_Shift_Del_p.G498fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.G518fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.G498fs|GPR161_ENST00000546300.1_Frame_Shift_Del_p.G384fs|GPR161_ENST00000367836.1_Frame_Shift_Del_p.G366fs|GPR161_ENST00000539777.1_Frame_Shift_Del_p.G420fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.G498fs NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 498 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity p.G497fs*13(1) breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CCCGAAGCCGCCCCCCGGGAC 0.582 7 1463 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 8 189 --- --- --- --- REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - rs142739309 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:204135375_204135377delAGC ENST00000367195.2 - 1 88_90 c.45_47delGCT c.(43-48)ctc>ct p.LL15del REN_ENST00000272190.8_In_Frame_Del_p.LL15del P00797 RENI_HUMAN renin 15 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 7 679 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:226026384delC ENST00000366837.4 + 4 590 c.394delC c.(394-396)ccfs p.P133fs EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 133 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCACGTGAAGCCCCCCCAGCT 0.627 7 1400 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226570820 226570820 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:226570820delG ENST00000366794.5 - 8 1219 c.1076delC c.(1075-1077)cafs p.P359fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 359 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCTGGTTTCTGGGGGGAATAT 0.502 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 10 2316 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 487 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 12 306 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24533400 24533401 + Frame_Shift_Ins INS - - G rs138525854 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:24533400_24533401insG ENST00000355123.4 - 6 956_957 c.513_514insC c.(511-516)acccagfs p.Q172fs ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q172fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q172fs NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 172 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGAGACTGGCGGTTCCATTTG 0.411 19 614 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 10 925 --- --- --- --- FAM98A 25940 broad.mit.edu 37 2 33813402 33813402 + Splice_Site DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:33813402delT ENST00000403368.1 - 4 591 c.522_splice c.e4+1 p.K174_splice FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000441530.2_Intron NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 175 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) AAGGTCTTACTTTTTTTTCAA 0.338 9 801 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs 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 13 531 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 321 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 819 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 7 288 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 13 284 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 26 611 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 11 1480 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 14 1557 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148683685 148683686 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:148683685_148683686insA ENST00000241416.7 + 10 1938_1939 c.1302_1303insA c.(1300-1305)caaaaafs p.QK434fs ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 434 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.K437fs*5(3) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTGTTGTGCATAAAAAAAAGAG 0.366 10 703 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 8 330 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 8 499 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 7 914 --- --- --- --- AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 21 289 --- --- --- --- AC022007.5 0 broad.mit.edu 37 3 10049093 10049094 + RNA INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:10049093_10049094insG ENST00000383808.2 - 0 904_905 GGGTCAGTGGCGGGGTGTGGTC 0.589 10 529 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 9 862 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 8 512 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 7 864 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 17 2467 --- --- --- --- APPL1 26060 broad.mit.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:57276921delA ENST00000288266.3 + 7 600 c.453delA c.(451-453)tcfs p.S151fs NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 151 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding p.R154fs*6(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GCCGTTTATCAAAAAAAAGAG 0.299 8 333 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 10 320 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 13 170 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 16 2050 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 22 318 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:108682418_108682419insT ENST00000232603.5 - 27 2723_2724 c.2641_2642insA c.(2641-2643)aaafs p.K881fs MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCTCTTTATTTTTTTTTCA 0.287 10 349 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 9 678 --- --- --- --- MBD4 8930 broad.mit.edu 37 3 129155548 129155548 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:129155548delT ENST00000429544.2 - 3 1134 c.939delA c.(937-939)aafs p.K313fs MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000393278.2_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 313 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATGATCTTTCTTTTTTTTTTA 0.373 Base excision repair (BER), DNA glycosylases 23 777 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 7 95 --- --- --- --- TOPBP1 11073 broad.mit.edu 37 3 133329879 133329880 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:133329879_133329880insT ENST00000260810.5 - 25 4272_4273 c.4141_4142insA c.(4141-4143)ccafs p.P1381fs NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1381 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCTTTGCTGGATTTTTTTTCTC 0.342 Other conserved DNA damage response genes 8 903 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:133670082_133670083insA ENST00000310926.4 - 6 1103_1104 c.830_831insT c.(829-831)tttfs p.F277fs SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 277 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CTCGAGGGAAGAAAAAAAAGGG 0.490 8 696 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 8 628 --- --- --- --- RAP2B 5912 broad.mit.edu 37 3 152880927 152880962 + In_Frame_Del DEL AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC - rs138892831 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC ENST00000323534.2 + 1 899_934 c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC c.(445-480)del p.NKASVDELFAEI149del NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 149 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA 0.661 11 108 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 13 144 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 1158 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186370137 186370137 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:186370137delC ENST00000265029.3 + 7 967 c.866delC c.(865-867)acfs p.T289fs FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 289 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAGAAAAACACCCCCCCAACA 0.498 8 1569 --- --- --- --- PAK2 5062 broad.mit.edu 37 3 196541368 196541368 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr3:196541368delG ENST00000327134.3 + 11 1304 c.982delG c.(982-984)ggfs p.G329fs NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 329 Protein kinase. G -> R (in Ref. 3; AAA75468). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ATACCTTGCTGGGGGGTCACT 0.408 7 1063 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 9 1059 --- --- --- --- LRPAP1 4043 broad.mit.edu 37 4 3516576 3516582 + Frame_Shift_Del DEL AGCTTCT AGCTTCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:3516576_3516582delAGCTTCT ENST00000500728.2 - 7 1054_1060 c.908_914delAGAAGCT c.(907-915)ggfs p.EKL303fs LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 303 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TGCGTGCCTCAGCTTCTCGTGCGCAAT 0.614 232 576 --- --- --- --- LDB2 9079 broad.mit.edu 37 4 16504316 16504317 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:16504316_16504317insG ENST00000304523.5 - 8 1394_1395 c.1071_1072insC c.(1069-1074)ccccacfs p.H358fs LDB2_ENST00000515064.1_Frame_Shift_Ins_p.H356fs|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 358 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TCTTGAGTGGCGGGAGGTTTAC 0.540 15 1910 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785564 83785565 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:83785564_83785565insT ENST00000432794.1 - 11 1547_1548 c.1384_1385insA c.(1384-1386)tgafs p.*462fs SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) AGAAGCATCAATTTTTTTTTGG 0.356 12 442 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 7 971 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 1007 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 8 1620 --- --- --- --- CFI 3426 broad.mit.edu 37 4 110662159 110662159 + Frame_Shift_Del DEL C C - rs7437875 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:110662159delC ENST00000394634.2 - 13 1849 c.1642delG c.(1642-1644)aafs p.E548fs CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACAGTTTTCCCCCCAACTC 0.463 9 2110 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - - G rs141446866 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:119745869_119745870insG ENST00000379735.5 - 3 424_425 c.153_154insC c.(151-156)acccacfs p.H52fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCCA 0.540 8 1085 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745872 119745873 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:119745872_119745873insG ENST00000379735.5 - 3 421_422 c.150_151insC c.(148-153)gcccgcfs p.R51fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 51 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGTGGCGGTGGCCCCCAAAG 0.540 7 967 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 7 574 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR 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 13 569 --- --- --- --- FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 7 214 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 7 1196 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 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) GCTCCACACAAAGAAGGTTTGTG 0.414 11 1113 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190882978 190882980 + Splice_Site DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr4:190882978_190882980delAAG ENST00000226798.4 + 8 853_855 c.629_splice c.e8-1 p.K212_splice NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 212 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) TCTTTACAGAAAGAAATTTCAGA 0.276 7 1347 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14358383 14358385 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:14358383_14358385delCAG ENST00000344204.4 + 12 2167_2169 c.2143_2145delCAG c.(2143-2145)del p.Q718del TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del|TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 718 Poly-Gln. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCGCTTTGGCCAGCAGCAGCAGA 0.631 11 777 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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) 11 1146 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 36985082 36985083 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:36985082_36985083insA ENST00000282516.8 + 10 2299_2300 c.1800_1801insA c.(1798-1803)ccaaaafs p.PK600fs NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.PK600fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 600 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTGAGACACCTAAAAAAAAGTC 0.356 7 533 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 7 966 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 12 892 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 12 1409 --- --- --- --- PCDHB2 0 broad.mit.edu 37 5 140474590 140474590 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:140474590delA ENST00000194155.4 + 1 364 c.216delA c.(214-216)ggfs p.G72fs NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCCAAAGGAAAAAAAATGC 0.522 8 622 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:171517345delT ENST00000176763.5 - 10 1919 c.1576delA c.(1576-1578)ccfs p.T526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCTTGAGGGTTTTTTTGTAC 0.517 8 1676 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 19 527 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del|CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 7 182 --- --- --- --- GRM6 2916 broad.mit.edu 37 5 178418555 178418555 + Frame_Shift_Del DEL C C - rs17078894 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:178418555delC ENST00000231188.5 - 3 905 c.727delG c.(727-729)tcfs p.V243fs GRM6_ENST00000517717.1_Frame_Shift_Del_p.V243fs NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 243 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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) all cancers(165;0.245) GCAATACAGACCCCCCCTGGG 0.622 7 1585 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 8 637 --- --- --- --- HCG17 0 broad.mit.edu 37 6 30230129 30230129 + RNA DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:30230129delG ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA GGTGAGACATGGGGGGGCCTG 0.512 8 710 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 36 688 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 12 455 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 9 249 --- --- --- --- POU3F2 5454 broad.mit.edu 37 6 99283172 99283173 + In_Frame_Ins INS - - CAG TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr6:99283172_99283173insCAG ENST00000328345.5 + 1 593_594 c.423_424insCAG c.(421-426)caagca>caCAGagca p.141_141Q>HR NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 141 Poly-Gln. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) aacagcagcaacagcagcagca 0.708 8 11 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 25 239 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 10 815 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070262 29070262 + Frame_Shift_Del DEL T T - rs5883182 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:29070262delT ENST00000409850.1 - 16 1897 c.1251delA c.(1249-1251)aafs p.K417fs CPVL_ENST00000396276.3_Frame_Shift_Del_p.K417fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.K417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TCTTCCAAACTTTTTTTTCTG 0.507 9 1045 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_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 12 1103 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 15 890 --- --- --- --- ADCY1 107 broad.mit.edu 37 7 45614538 45614540 + In_Frame_Del DEL CTT CTT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:45614538_45614540delCTT ENST00000297323.7 + 1 418_420 c.396_398delCTT c.(394-399)acc>ac p.TF132del ADCY1_ENST00000432715.1_5'UTR NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 132 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCAGCCTCACCTTCGCGCTGCTC 0.719 115 186 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 8 309 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 10 115 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 9 24 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 18 933 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 7 1527 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 8 522 --- --- --- --- CCDC132 55610 broad.mit.edu 37 7 92923947 92923948 + Splice_Site INS - - G rs140810598 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:92923947_92923948insG ENST00000544910.1 + 15 1296_1297 c.1077_splice c.e15+1 p.R359_splice CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice|CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 389 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CGAATATGGCAGGTTTGGtttt 0.272 8 1023 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99103706 99103706 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:99103706delC ENST00000394170.2 + 2 290 c.39delC c.(37-39)gafs p.D13fs ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 13 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TAGACTTAGACCCCCCAGCTG 0.483 9 3137 --- --- --- --- CYP3A7 1551 broad.mit.edu 37 7 99328707 99328707 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:99328707delA ENST00000336374.2 - 2 142 c.140delT c.(139-141)tgfs p.L47fs NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 47 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) AGCATTTCCCAAAAAAGGCAG 0.413 11 2076 --- --- --- --- TSC22D4 81628 broad.mit.edu 37 7 100075542 100075543 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100075542_100075543insG ENST00000300181.2 - 2 873_874 c.119_120insC c.(118-120)cccfs p.P40fs TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 40 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGCGGGGCGGGGGCCCGGT 0.708 7 170 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. 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) AATGCCGTGAGCTGCTGCTGCTG 0.690 13 462 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 10 858 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) 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) CTCCAGCTGCcctcctcctcctc 0.700 9 822 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 20 583 --- --- --- --- UFSP1 402682 broad.mit.edu 37 7 100486697 100486697 + Frame_Shift_Del DEL C C - rs138095729 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:100486697delC ENST00000388761.2 - 1 642 c.196delG c.(196-198)acfs p.D66fs NM_001015072.3 NP_001015072.2 Q6NVU6 UFSP1_HUMAN UFM1-specific peptidase 1 (non-functional) 66 lung(1)|stomach(1) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GCATCTGCGTCCCCCCCAACC 0.647 10 1233 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:135047688delG ENST00000541284.1 - 12 2421 c.2091delC c.(2089-2091)ccfs p.P697fs CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 366 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGGTTTTGCTGGGGGGTCTGA 0.532 7 1708 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 11 288 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151970890 151970891 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr7:151970890_151970891insT ENST00000355193.2 - 7 1129_1130 c.911_912insA c.(910-912)catfs p.H304fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs lysine (K)-specific methyltransferase 2C AATGATACATCTGGGTACATTT 0.436 20 1002 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 10 511 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18729796 18729796 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:18729796delT ENST00000440756.2 - 3 680 c.578delA c.(577-579)atfs p.N193fs PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 193 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTCTGGTAAATTTTTTTGGCC 0.438 8 996 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 15 614 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 8 447 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 8 454 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 9 127 --- --- --- --- HABP4 22927 broad.mit.edu 37 9 99250415 99250416 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:99250415_99250416insC ENST00000375249.4 + 7 1119_1120 c.1044_1045insC c.(1042-1047)aaccgcfs p.R349fs HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs|HABP4_ENST00000466976.1_3'UTR NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 349 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) TTTTCCGGAAACCCGCCAATGA 0.530 11 516 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 14 393 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:17113554delA ENST00000377833.4 - 19 2561 c.2496delT c.(2494-2496)ttfs p.F832fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 832 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACACGTTAGGAAAAAAAGGCG 0.413 7 349 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 7 28 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:63958149delT ENST00000373789.3 - 12 1444 c.1348delA c.(1348-1350)ttfs p.I450fs RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GTCTCTTCAATTTTTTTTTGT 0.333 7 394 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 11 1349 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 14 502 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602546 5602546 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:5602546delC ENST00000345043.2 + 1 440 c.440delC c.(439-441)tcfs p.S147fs AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCATCTGCTCCCCCCTGCGA 0.507 7 1093 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 9 984 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 15 884 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_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 8 1280 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 8 406 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:59210950_59210951insT ENST00000302030.2 + 1 334_335 c.309_310insT c.(307-312)cattttfs p.HF103fs NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGCTCAGTTTTTTTTCTT 0.510 7 1135 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539012 61539013 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:61539012_61539013insC ENST00000278836.5 + 6 877_878 c.781_782insC c.(781-783)cccfs p.P261fs MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P252fs|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) GCACTCTGAATCCCCCCCCAGC 0.634 17 1015 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299856 62299856 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:62299856delC ENST00000378024.4 - 5 2307 c.2033delG c.(2032-2034)gafs p.G678fs AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 678 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTAAGTTTTCCCCCCAGACC 0.478 7 1302 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000537981.1_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 8 259 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 15 881 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108044434 108044434 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:108044434delT ENST00000278612.8 - 13 1382 c.1277delA c.(1276-1278)agfs p.K426fs NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 426 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTTAAAGGCCTTTTTCTGTAT 0.383 7 985 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 13 521 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118772974 118772974 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:118772974delG ENST00000334801.3 - 6 2442 c.1478delC c.(1477-1479)cgfs p.P493fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 493 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GTCCCCACCCGGGGGGTGCCC 0.622 9 1128 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - rs149369172 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr11:129752496delT ENST00000446488.3 - 9 1035 c.932delA c.(931-933)agfs p.K311fs NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCCTTAACCTTTTTTTTAAG 0.438 7 609 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). 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 central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 17 449 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:18841025delT ENST00000266505.7 - 13 1852 c.1589delA c.(1588-1590)atfs p.N530fs PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 530 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAGCTCACCATTTTTTTTAAT 0.294 7 551 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATCGTCCCTTTTTTTGTTA 0.358 12 733 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. 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 TGGGGGAGGGGGTGGTGGTGGTG 0.483 8 328 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs 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 12 669 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:54645832delT ENST00000209875.4 - 3 453 c.317delA c.(316-318)agfs p.K106fs CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 106 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TACCTCTCTCTTTTTTTTAGA 0.323 10 1178 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 835 --- --- --- --- RP11-74M13.4 0 broad.mit.edu 37 12 57255299 57255300 + RNA INS - - A rs139092727 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:57255299_57255300insA ENST00000557452.1 + 0 720 ATGGAAGAAGGAAaaaaaaata 0.426 10 385 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - rs139915490 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:57572242delG ENST00000243077.3 + 27 4928 c.4462delG c.(4462-4464)ggfs p.G1489fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1489 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) GACGCTGTACGGGGGGGAGGT 0.587 8 1170 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:57921401delC ENST00000355673.3 + 8 2550 c.2194delC c.(2194-2196)ccfs p.P733fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 733 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTCAGGGAGACCCCCCCAACT 0.602 9 2044 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58177051 58177052 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:58177051_58177052insG ENST00000454289.3 + 2 429_430 c.216_217insG c.(214-219)gggggafs p.GG72fs TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 72 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGACTTGTGGCGGGGACCTCAA 0.569 18 2258 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59268350 59268351 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:59268350_59268351insG ENST00000320743.3 - 17 2986_2987 c.2700_2701insC c.(2698-2703)acgccafs p.P901fs LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 901 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCAATATGGCAGGTCCCTTTGA 0.401 T ROS1 NSCLC 12 756 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 13 201 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 7 473 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 9 501 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 9 494 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 12 45 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 12 1301 --- --- --- --- CDK8 1024 broad.mit.edu 37 13 26975609 26975611 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:26975609_26975611delCAG ENST00000381527.3 + 12 1620_1622 c.1117_1119delCAG c.(1117-1119)del p.Q377del CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 377 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TGAGAAGAACCAGCAGCAGCAGC 0.463 8 352 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 8 541 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36397008 36397008 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:36397008delC ENST00000255448.4 - 11 1623 c.1412delG c.(1411-1413)gafs p.G471fs DCLK1_ENST00000379893.1_Frame_Shift_Del_p.G164fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G471fs NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 471 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAAAAGGTCTCCCCCCTGAGA 0.517 7 721 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 15 1536 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 14 946 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 9 345 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 12 345 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 13 616 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020942 23020942 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:23020942delT ENST00000478163.3 + 0 819 GAGGGGTTTATTTTTTTTTAA 0.468 9 298 --- --- --- --- DPPA3P2 0 broad.mit.edu 37 14 36841115 36841115 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:36841115delT ENST00000557188.1 + 0 746 TTCTTGCACCTTTTTTTCTTG 0.358 7 600 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 10 490 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 445 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 7 56 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72054755 72054755 + Frame_Shift_Del DEL C C - rs12884638 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:72054755delC ENST00000555818.1 + 2 514 c.166delC c.(166-168)ccfs p.P57fs SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.P57fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.P57fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 57 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCCTGTAGGACCCCCCCGAAG 0.532 8 926 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 10 1036 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 10 13 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 15 467 --- --- --- --- IGHG1 0 broad.mit.edu 37 14 106206919 106206920 + RNA INS - - C rs138711722 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr14:106206919_106206920insC ENST00000390548.2 - 0 985 CTGCAGGGGCACCTTGTGAGAG 0.678 5 11 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 8 739 --- --- --- --- UBE3A 7337 broad.mit.edu 37 15 25601871 25601871 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:25601871delT ENST00000232165.3 - 8 2582 c.1926delA c.(1924-1926)aafs p.K642fs UBE3A_ENST00000397954.2_Frame_Shift_Del_p.K645fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000566215.1_Frame_Shift_Del_p.K622fs NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 645 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GAAAAGTTCCTTTTTTCCCCA 0.338 7 1669 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 847 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:44843099delA ENST00000261868.5 + 3 311 c.173delA c.(172-174)gafs p.E58fs EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 58 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.K60fs*36(1) endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GATGATGATGAAAAAAAAGAG 0.358 7 755 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63076122 63076123 + Frame_Shift_Del DEL CA CA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:63076122_63076123delCA ENST00000472902.1 + 9 1201_1202 c.948_949delCA c.(946-951)tgcafs p.CT316fs TLN2_ENST00000306829.6_Intron|TLN2_ENST00000561311.1_Intron Q9Y4G6 TLN2_HUMAN talin 2 0 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTTTAAGATGCACACACACACT 0.554 7 523 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:64967246_64967247insA ENST00000326648.3 + 4 2321_2322 c.2193_2194insA c.(2191-2196)gaaaaafs p.EK731fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 10 1456 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 7 371 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 1786 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 11 993 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 457 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28846491 28846491 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:28846491delC ENST00000336783.4 + 19 2713 c.2546delC c.(2545-2547)acfs p.T849fs ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.T855fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.T849fs|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 849 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GAGCAGCCTACCCCCCAAGCC 0.622 7 1322 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 12 487 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 10 2071 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 7 640 --- --- --- --- NETO2 81831 broad.mit.edu 37 16 47165886 47165886 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:47165886delT ENST00000562435.1 - 2 469 c.85delA c.(85-87)ccfs p.T29fs NETO2_ENST00000303155.5_Frame_Shift_Del_p.T29fs NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 29 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTACCTTGGGTTTTTTGGGCC 0.353 HNSCC(25;0.065) 7 1843 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327780 67327781 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:67327780_67327781insG ENST00000304372.5 - 12 1939_1940 c.1884_1885insC c.(1882-1887)ccccacfs p.H629fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 629 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATGGGAGTGGCGGGAGGGTCTT 0.540 15 1657 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 6 11 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77334227 77334228 + Frame_Shift_Ins INS - - G rs148849944 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:77334227_77334228insG ENST00000282849.5 - 17 3024_3025 c.2606_2607insC c.(2605-2607)cgcfs p.R869fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 869 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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 TTTTTGTGGCTGGTGGAGTTCC 0.460 8 401 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 13 1000 --- --- --- --- BCL6B 255877 broad.mit.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:6927858delC ENST00000293805.5 + 4 632 c.540delC c.(538-540)ggfs p.G180fs BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 180 Pro-rich. nucleus zinc ion binding p.S183fs*6(1) skin(1) 1 GCAGTCAAGGCCCCCCCAGTC 0.617 8 1355 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000396219.3_In_Frame_Del_p.D149del|WDR16_ENST00000299764.5_In_Frame_Del_p.D227del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 7 795 --- --- --- --- MYH2 4620 broad.mit.edu 37 17 10434975 10434975 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:10434975delT ENST00000245503.5 - 22 3056 c.2672delA c.(2671-2673)atfs p.N891fs MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Frame_Shift_Del_p.N891fs|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 891 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGCAAGTCATTTTTTTCTTT 0.433 7 686 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 8 899 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 7 434 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 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 10 587 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 11 470 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_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 17 251 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 8 679 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:62496298delT ENST00000225792.5 - 13 1989 c.1588delA c.(1588-1590)ctfs p.T530fs DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 530 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCATTCTGAGTTTTTGCCCCA 0.413 T ETV4 prostate 8 1518 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 11 693 --- --- --- --- ANKRD20A5P 0 broad.mit.edu 37 18 14184163 14184164 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr18:14184163_14184164insT ENST00000581935.1 + 0 852_853 lung(3) 3 GGTAAGGGTCAATTTTTTATAT 0.282 8 335 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 21 334 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 13 386 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 8 625 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 9 765 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 11 607 --- --- --- --- WDR88 126248 broad.mit.edu 37 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:33666419_33666421delTCA ENST00000355868.3 + 11 1436_1438 c.1360_1362delTCA c.(1360-1362)del p.S458del WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 458 Poly-Ser. breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TACTTCATCGTCATCATCATCAT 0.527 8 1105 --- --- --- --- ZNF570 148268 broad.mit.edu 37 19 37976034 37976034 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:37976034delA ENST00000330173.1 + 5 2039 c.1510delA c.(1510-1512)aafs p.K505fs ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAAGGAATGCAAAAAAACCTT 0.448 7 904 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 11 1985 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:39330958_39330959insG ENST00000221419.5 - 8 1376_1377 c.1010_1011insC c.(1009-1011)cccfs p.P337fs HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 337 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGTAGTGAGGTGGGGGGGGCCC 0.668 8 189 --- --- --- --- NCCRP1 342897 broad.mit.edu 37 19 39691081 39691081 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:39691081delC ENST00000339852.4 + 5 666 c.644delC c.(643-645)gcfs p.A215fs NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 215 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 CACCACGTGGCCCCCCGAACT 0.672 8 1468 --- --- --- --- AXL 558 broad.mit.edu 37 19 41743933 41743933 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:41743933delC ENST00000301178.4 + 7 1058 c.868delC c.(868-870)ccfs p.P291fs AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs|AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 291 Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AGCATCCGTGCCCCCCCATCA 0.647 11 1219 --- --- --- --- EXOSC5 56915 broad.mit.edu 37 19 41903203 41903203 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:41903203delT ENST00000221233.4 - 1 181 c.31delA c.(31-33)tcfs p.I11fs CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs|BCKDHA_ENST00000595085.1_Intron NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 11 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 TCAGCACGGATTTTGGCGTCA 0.647 7 1407 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262726 45262726 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:45262726delC ENST00000164227.5 + 9 1463 c.1219delC c.(1219-1221)ccfs p.P408fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 408 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CTCCCAGTCTCCCCCCAGGGA 0.627 T IGH@ CLL 8 4145 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262737 45262737 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:45262737delC ENST00000164227.5 + 9 1474 c.1230delC c.(1228-1230)gafs p.D410fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 410 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CCCCCAGGGACCCCCCTGGAT 0.642 T IGH@ CLL 8 3937 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 8 448 --- --- --- --- ZNF211 0 broad.mit.edu 37 19 58153483 58153484 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:58153483_58153484insA ENST00000544273.1 + 5 1992_1993 c.1665_1666insA c.(1663-1668)ggaatcfs p.I556fs ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.I548fs|ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000299871.5_Frame_Shift_Ins_p.I609fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.I483fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.I557fs|ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.I544fs|ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.I535fs Q13398 ZN211_HUMAN zinc finger protein 211 544 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K557E(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTCAATGTGGGAAATCCTTTGG 0.431 735 716 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 11 1343 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 10 433 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 24 681 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:23065523delC ENST00000246006.4 - 1 1454 c.1307delG c.(1306-1308)gcfs p.G436fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 436 EGF-like 5; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGAGGGGGCCCCCCGGGCC 0.637 8 897 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 8 36 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:43052773_43052775delGCT ENST00000316099.3 + 8 1097_1099 c.1008_1010delGCT c.(1006-1011)gag>ga p.EL336del HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del|HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 336 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTTTGGAGAGCTGCTGCTGCTG 0.576 7 205 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 17 2916 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 9 316 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 14 179 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 17 377 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15347435 15347436 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr21:15347435_15347436insA ENST00000344693.5 - 0 736 NR_027270.1 CTTCCAAATATAAAAAATTGAC 0.287 32 361 --- --- --- --- GART 2618 broad.mit.edu 37 21 34882121 34882122 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr21:34882121_34882122insT ENST00000381831.3 - 18 2683_2684 c.2420_2421insA c.(2419-2421)agcfs p.S807fs GART_ENST00000381839.3_Frame_Shift_Ins_p.S807fs|GART_ENST00000543717.1_Frame_Shift_Ins_p.S359fs|GART_ENST00000381815.4_Frame_Shift_Ins_p.S807fs NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 807 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.K807fs*7(2) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CCACTCTGGCCTTTTTTTTTTC 0.446 13 261 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 12 458 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19349302 19349304 + In_Frame_Del DEL TTC TTC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:19349302_19349304delTTC ENST00000263208.5 - 16 2182_2184 c.1926_1928delGAA c.(1924-1929)aaa>aa p.KK642del HIRA_ENST00000546308.1_In_Frame_Del_p.KK598del|HIRA_ENST00000541063.1_In_Frame_Del_p.KK598del|HIRA_ENST00000340170.4_Intron NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 642 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGGCCGCCCTTTCTTCTTCTTCT 0.537 8 1453 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 7 344 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding 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) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 222 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24515602 24515602 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:24515602delC ENST00000398319.2 + 28 4954 c.4569delC c.(4567-4569)ttfs p.F1523fs CABIN1_ENST00000405822.2_Frame_Shift_Del_p.F1444fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.F1523fs NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1523 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGAGCCGCTTCCCCCAGCACT 0.642 8 1655 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 21 1246 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 9 1058 --- --- --- --- MSL3 10943 broad.mit.edu 37 X 11783683 11783683 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:11783683delA ENST00000337339.2 + 9 1033 c.1006delA c.(1006-1008)aafs p.K336fs MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs|MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 336 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 AGCCACCCCCAAAAGGCGCAA 0.592 7 1532 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41205517 41205517 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:41205517delA ENST00000399959.2 + 13 2206 c.1351delA c.(1351-1353)aafs p.K452fs DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.K436fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 452 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TGTGGAGACCAAAAAGGGTGC 0.433 HNSCC(61;0.18) 7 1123 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350672 50350674 + In_Frame_Del DEL TCT TCT - rs3747282 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:50350672_50350674delTCT ENST00000376020.2 - 6 3493_3495 c.3468_3470delAGA c.(3466-3471)gag>ga p.EE1156del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1156 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.E1156E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGGCAGctcctcttcctcctcct 0.557 7 159 --- --- --- --- EDA 1896 broad.mit.edu 37 X 68836236 68836237 + Frame_Shift_Ins INS - - G rs41539891 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:68836236_68836237insG ENST00000374552.4 + 1 326_327 c.84_85insG c.(82-87)gggggcfs p.GG28fs EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 28 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GCGGGTGTGGCGGGGCCCCTGC 0.708 11 389 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70602999 70603000 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:70602999_70603000insA ENST00000449580.1 + 12 1980_1981 c.1929_1930insA c.(1927-1932)ataaaafs p.IK643fs TAF1_ENST00000373790.4_Frame_Shift_Ins_p.IK643fs|TAF1_ENST00000423759.1_Frame_Shift_Ins_p.IK664fs|TAF1_ENST00000276072.3_Frame_Shift_Ins_p.IK664fs P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 643 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TAAAGCACATCAAAAAAAAGGC 0.406 9 434 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:73046080delT ENST00000604411.1 + 0 34041 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCTGGCACTTTTTTTTCCC 0.423 9 808 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73960934 73960934 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:73960934delT ENST00000373468.1 - 3 4109 c.3458delA c.(3457-3459)acfs p.N1153fs KIAA2022_ENST00000055682.5_Frame_Shift_Del_p.N1153fs Q5QGS0 K2022_HUMAN KIAA2022 1153 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CAGGCAAGGGTTTTTTTGGAG 0.403 7 913 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939674 76939674 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:76939674delT ENST00000373344.5 - 9 1288 c.1074delA c.(1072-1074)aafs p.K358fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 358 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) TCTCAATCAGTTTTTTTGCCT 0.368 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 9 891 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 29 1637 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 8 1658 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 7 1101 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 10 1755 --- --- --- --- DDX26B 203522 broad.mit.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:134680317delT ENST00000370752.4 + 4 686 c.352delT c.(352-354)ttfs p.F119fs DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 119 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCCATTTTTTTTAGA 0.274 7 315 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 11 1976 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 9 929 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 8 1455 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 17 1546 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152226003 152226004 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:152226003_152226004insG ENST00000447306.1 + 2 927_928 c.591_592insG c.(589-594)ccagggfs p.G198fs PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 198 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ggcaggtgcccgagggggaaaa 0.574 7 659 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714159 153714160 + Frame_Shift_Ins INS - - G rs150392222 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrX:153714159_153714160insG ENST00000369660.4 - 3 398_399 c.313_314insC c.(313-315)ccafs p.P105fs UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 105 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGAAGTGGCGGGCCAAGACT 0.629 19 1502 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 13 159 --- --- --- --- CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 11 2023 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 8 581 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 7 1591 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 7 300 --- --- --- --- EPHB2 2048 broad.mit.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - rs56871920 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:23240246delA ENST00000400191.3 + 17 3069 c.3051delA c.(3049-3051)ggfs p.G1017fs EPHB2_ENST00000374632.3_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 1017 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAAACGACGGAAAAAAAAAGG 0.498 7 116 --- --- --- --- PEF1 553115 broad.mit.edu 37 1 32100889 32100890 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:32100889_32100890insG ENST00000373703.4 - 2 280_281 c.258_259insC c.(256-261)ccggggfs p.PG86fs PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Frame_Shift_Ins_p.PG86fs NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 86 9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) TAGGGGCCCCCGGGAGCTGCAC 0.604 16 525 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 11 1584 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:35365852delC ENST00000373347.1 - 4 1398 c.1130delG c.(1129-1131)gtfs p.G377fs DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 377 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGTGGGGTAACCCCCCCAGTC 0.602 8 892 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 131 537 --- --- --- --- BMP8A 353500 broad.mit.edu 37 1 39988692 39988692 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:39988692delC ENST00000331593.5 + 6 1308 c.962delC c.(961-963)gcfs p.A321fs RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 321 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGGTCATCGCCCCCCAAGGC 0.642 8 1419 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40735757 40735757 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:40735757delT ENST00000372759.3 + 5 750 c.585delT c.(583-585)tafs p.Y195fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 195 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) GGGGTGACTATTTTTTTATTT 0.333 8 1516 --- --- --- --- STIL 6491 broad.mit.edu 37 1 47717309 47717309 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:47717309delT ENST00000360380.3 - 18 3726 c.3363delA c.(3361-3363)aafs p.K1121fs STIL_ENST00000371877.3_Frame_Shift_Del_p.K1122fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.K1121fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.K1104fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.K1121fs Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1121 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TCTTCATATATTTTTTGGTTG 0.373 7 1261 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57537235 57537235 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:57537235delT ENST00000371236.2 - 6 781 c.518delA c.(517-519)agfs p.K173fs DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 173 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTTGTGCCTTTTTTTCTAA 0.393 8 461 --- --- --- --- TYW3 127253 broad.mit.edu 37 1 75229742 75229744 + In_Frame_Del DEL ATG ATG - rs112765232 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:75229742_75229744delATG ENST00000370867.3 + 6 814_816 c.725_727delATG c.(724-729)aat>a p.ND242del TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000421739.2_In_Frame_Del_p.ND158del|TYW3_ENST00000457880.2_In_Frame_Del_p.ND209del NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 242 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 GAACTTGAAAATGATGATGATGA 0.330 8 659 --- --- --- --- GBP3 2635 broad.mit.edu 37 1 89473441 89473442 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:89473441_89473442insT ENST00000370481.4 - 11 1973_1974 c.1753_1754insA c.(1753-1755)caafs p.Q585fs NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 585 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATATCTCTTGGTTTTTTTTTTC 0.371 50 1009 --- --- --- --- GBP5 115362 broad.mit.edu 37 1 89732166 89732166 + Frame_Shift_Del DEL T T - rs34148688 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:89732166delT ENST00000343435.5 - 7 1267 c.731delA c.(730-732)agfs p.K244fs RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 244 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTGGGCAAGCTTTTTTTGGTG 0.388 9 1081 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:109276138delA ENST00000370017.3 + 10 2401 c.2124delA c.(2122-2124)ccfs p.P708fs FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 709 Fibronectin type-III 8. extracellular region p.I478fs*4(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCTGTCCAAAAAAAATAT 0.363 8 493 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 22 377 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 22 103 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 12 655 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 10 652 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144923716 144923716 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:144923716delT ENST00000529945.1 - 2 1670 c.1231delA c.(1231-1233)tcfs p.I411fs PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.I385fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.I314fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.I248fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.I35fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.I411fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 248 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTTGCTGGATTTTTTCCTGG 0.453 T PDGFRB MPD 7 1730 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145328401 145328406 + In_Frame_Del DEL GAAGAC GAAGAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:145328401_145328406delGAAGAC ENST00000342960.5 + 33 4284_4289 c.4249_4254delGAAGAC c.(4249-4254)del p.ED1419del NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1419 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGAAGAGGAAGAAGACGAAGACCAAG 0.466 3 5 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 7 572 --- --- --- --- NR1I3 0 broad.mit.edu 37 1 161202999 161203000 + Frame_Shift_Ins INS - - G rs139473535 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:161202999_161203000insG ENST00000367983.4 - 4 661_662 c.367_368insC c.(367-369)ccafs p.P123fs NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCCATGTGGCGGGTGTGGGCC 0.564 9 1332 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000515829.2_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 15 685 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:226026384delC ENST00000366837.4 + 4 590 c.394delC c.(394-396)ccfs p.P133fs EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 133 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCACGTGAAGCCCCCCCAGCT 0.627 7 1400 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226570820 226570820 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:226570820delG ENST00000366794.5 - 8 1219 c.1076delC c.(1075-1077)cafs p.P359fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 359 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCTGGTTTCTGGGGGGAATAT 0.502 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 10 2316 --- --- --- --- RHOU 58480 broad.mit.edu 37 1 228879333 228879333 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:228879333delA ENST00000366691.3 + 3 1289 c.623delA c.(622-624)cafs p.Q208fs NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 208 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) GCCTTGACTCAAAAAAACCTC 0.493 7 1004 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 12 306 --- --- --- --- CHRM3 1131 broad.mit.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:240072444delA ENST00000255380.4 + 5 2472 c.1693delA c.(1693-1695)aafs p.K567fs NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 567 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) CCAGTGTGACAAAAAAAAGAG 0.502 8 498 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 8 319 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24533400 24533401 + Frame_Shift_Ins INS - - G rs138525854 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:24533400_24533401insG ENST00000355123.4 - 6 956_957 c.513_514insC c.(511-516)acccagfs p.Q172fs ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q172fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q172fs NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 172 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGAGACTGGCGGTTCCATTTG 0.411 19 614 --- --- --- --- FAM98A 25940 broad.mit.edu 37 2 33813402 33813402 + Splice_Site DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:33813402delT ENST00000403368.1 - 4 591 c.522_splice c.e4+1 p.K174_splice FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 175 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) AAGGTCTTACTTTTTTTTCAA 0.338 9 801 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 321 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 819 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 7 288 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 26 611 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 14 1557 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:109087914delT ENST00000309863.6 + 6 2843 c.2129delT c.(2128-2130)gtfs p.V710fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 7 1647 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148683685 148683686 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:148683685_148683686insA ENST00000241416.7 + 10 1938_1939 c.1302_1303insA c.(1300-1305)caaaaafs p.QK434fs ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 434 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.K437fs*5(3) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTGTTGTGCATAAAAAAAAGAG 0.366 10 703 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 9 1005 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 8 330 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 8 499 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 7 914 --- --- --- --- PRRT3 285368 broad.mit.edu 37 3 9991858 9991859 + Splice_Site INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:9991858_9991859insA ENST00000412055.1 - 2 73 c.e2-2 PRRT3_ENST00000411976.2_Splice_Site|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TGGATGAGCCTAAAAAAAAAAC 0.574 8 64 --- --- --- --- AC022007.5 0 broad.mit.edu 37 3 10049093 10049094 + RNA INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:10049093_10049094insG ENST00000383808.2 - 0 904_905 GGGTCAGTGGCGGGGTGTGGTC 0.589 10 529 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 10 52 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 13 1506 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 7 864 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 7 1804 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_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 24 834 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 8 1581 --- --- --- --- APPL1 26060 broad.mit.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:57276921delA ENST00000288266.3 + 7 600 c.453delA c.(451-453)tcfs p.S151fs NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 151 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding p.R154fs*6(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GCCGTTTATCAAAAAAAAGAG 0.299 8 333 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 14 35 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 16 2050 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 22 318 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:108682418_108682419insT ENST00000232603.5 - 27 2723_2724 c.2641_2642insA c.(2641-2643)aaafs p.K881fs MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCTCTTTATTTTTTTTTCA 0.287 10 349 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 9 720 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase 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) CCTTCGGCTCTGGGGGGGGCAC 0.624 10 601 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 9 678 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 13 3209 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220105 126220106 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:126220105_126220106insT ENST00000290868.2 - 10 973_974 c.920_921insA c.(919-921)agafs p.R307fs UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGAGCACCTCCTTTTTTTTCCT 0.584 9 1627 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 7 95 --- --- --- --- TOPBP1 11073 broad.mit.edu 37 3 133329879 133329880 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:133329879_133329880insT ENST00000260810.5 - 25 4272_4273 c.4141_4142insA c.(4141-4143)ccafs p.P1381fs NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1381 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCTTTGCTGGATTTTTTTTCTC 0.342 Other conserved DNA damage response genes 8 903 --- --- --- --- RAP2B 5912 broad.mit.edu 37 3 152880927 152880962 + In_Frame_Del DEL AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC - rs138892831 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC ENST00000323534.2 + 1 899_934 c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC c.(445-480)del p.NKASVDELFAEI149del NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 149 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA 0.661 11 108 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 13 144 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 1158 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 13 741 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186370137 186370137 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:186370137delC ENST00000265029.3 + 7 967 c.866delC c.(865-867)acfs p.T289fs FETUB_ENST00000382134.3_Frame_Shift_Del_p.T224fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.T252fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Frame_Shift_Del_p.T141fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.T289fs NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 289 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAGAAAAACACCCCCCCAACA 0.498 8 1569 --- --- --- --- PAK2 5062 broad.mit.edu 37 3 196541368 196541368 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr3:196541368delG ENST00000327134.3 + 11 1304 c.982delG c.(982-984)ggfs p.G329fs NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 329 Protein kinase. G -> R (in Ref. 3; AAA75468). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ATACCTTGCTGGGGGGTCACT 0.408 7 1063 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3216905 3216907 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:3216905_3216907delGAG ENST00000355072.5 + 51 7166_7168 c.7021_7023delGAG c.(7021-7023)del p.E2345del NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2345 Poly-Glu. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGCCATCAGCGAGGAGGAGGAGG 0.424 7 289 --- --- --- --- LRPAP1 4043 broad.mit.edu 37 4 3516576 3516582 + Frame_Shift_Del DEL AGCTTCT AGCTTCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:3516576_3516582delAGCTTCT ENST00000500728.2 - 7 1054_1060 c.908_914delAGAAGCT c.(907-915)ggfs p.EKL303fs LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 303 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TGCGTGCCTCAGCTTCTCGTGCGCAAT 0.614 232 576 --- --- --- --- LDB2 9079 broad.mit.edu 37 4 16504316 16504317 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:16504316_16504317insG ENST00000304523.5 - 8 1394_1395 c.1071_1072insC c.(1069-1074)ccccacfs p.H358fs LDB2_ENST00000515064.1_Frame_Shift_Ins_p.H356fs|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 358 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TCTTGAGTGGCGGGAGGTTTAC 0.540 15 1910 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 22 956 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 421 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 15 305 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 8 401 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785564 83785565 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:83785564_83785565insT ENST00000432794.1 - 11 1547_1548 c.1384_1385insA c.(1384-1386)tgafs p.*462fs SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) AGAAGCATCAATTTTTTTTTGG 0.356 12 442 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 8 1620 --- --- --- --- CFI 3426 broad.mit.edu 37 4 110662159 110662159 + Frame_Shift_Del DEL C C - rs7437875 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:110662159delC ENST00000394634.2 - 13 1849 c.1642delG c.(1642-1644)aafs p.E548fs CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACAGTTTTCCCCCCAACTC 0.463 9 2110 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - - G rs141446866 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:119745869_119745870insG ENST00000379735.5 - 3 424_425 c.153_154insC c.(151-156)acccacfs p.H52fs SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCCA 0.540 8 1085 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745872 119745873 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:119745872_119745873insG ENST00000379735.5 - 3 421_422 c.150_151insC c.(148-153)gcccgcfs p.R51fs SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 51 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGTGGCGGTGGCCCCCAAAG 0.540 7 967 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 8 523 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 7 574 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 13 569 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 662 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 7 1196 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 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) GCTCCACACAAAGAAGGTTTGTG 0.414 11 1113 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190882978 190882980 + Splice_Site DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr4:190882978_190882980delAAG ENST00000226798.4 + 8 853_855 c.629_splice c.e8-1 p.K212_splice NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 212 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) TCTTTACAGAAAGAAATTTCAGA 0.276 7 1347 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14358383 14358385 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:14358383_14358385delCAG ENST00000344204.4 + 12 2167_2169 c.2143_2145delCAG c.(2143-2145)del p.Q718del TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del|TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 718 Poly-Gln. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCGCTTTGGCCAGCAGCAGCAGA 0.631 11 777 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:16694605_16694606insC ENST00000513610.1 - 27 4128_4129 c.3674_3675insG c.(3673-3675)gtcfs p.V1225fs MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCGTGGAGGAGCCCCCCCCTTT 0.564 9 871 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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) 11 1146 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 12 1183 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 7 966 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 8 478 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 19 1790 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 12 892 --- --- --- --- VDAC1 7416 broad.mit.edu 37 5 133316639 133316639 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:133316639delT ENST00000265333.3 - 6 576 c.332delA c.(331-333)atfs p.N111fs VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 111 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) GATTTTAGCATTTTTTTTCCT 0.403 8 482 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 12 1409 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145647319 145647320 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:145647319_145647320insA ENST00000265271.5 + 15 2605_2606 c.2439_2440insA c.(2437-2442)ctaaaafs p.LK813fs RBM27_ENST00000506502.1_Frame_Shift_Ins_p.LK758fs NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 813 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.K816fs*5(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAAGTGCTTAAAAAAAAACA 0.351 12 515 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 9 519 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:171517345delT ENST00000176763.5 - 10 1919 c.1576delA c.(1576-1578)ccfs p.T526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCTTGAGGGTTTTTTTGTAC 0.517 8 1676 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 8 637 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 36 688 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 845 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 8 1451 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 25 239 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070262 29070262 + Frame_Shift_Del DEL T T - rs5883182 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:29070262delT ENST00000409850.1 - 16 1897 c.1251delA c.(1249-1251)aafs p.K417fs CPVL_ENST00000265394.5_Frame_Shift_Del_p.K417fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.K417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TCTTCCAAACTTTTTTTTCTG 0.507 9 1045 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_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 12 1103 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 47 563 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 15 890 --- --- --- --- ADCY1 107 broad.mit.edu 37 7 45614538 45614540 + In_Frame_Del DEL CTT CTT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:45614538_45614540delCTT ENST00000297323.7 + 1 418_420 c.396_398delCTT c.(394-399)acc>ac p.TF132del ADCY1_ENST00000432715.1_5'UTR NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 132 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCAGCCTCACCTTCGCGCTGCTC 0.719 115 186 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 8 309 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 10 115 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 18 933 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 7 1527 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 8 522 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 18 1476 --- --- --- --- CCDC132 55610 broad.mit.edu 37 7 92923947 92923948 + Splice_Site INS - - G rs140810598 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:92923947_92923948insG ENST00000544910.1 + 15 1296_1297 c.1077_splice c.e15+1 p.R359_splice CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 389 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) CGAATATGGCAGGTTTGGtttt 0.272 8 1023 --- --- --- --- CYP3A7 1551 broad.mit.edu 37 7 99328707 99328707 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:99328707delA ENST00000336374.2 - 2 142 c.140delT c.(139-141)tgfs p.L47fs NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 47 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) AGCATTTCCCAAAAAAGGCAG 0.413 11 2076 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 26 1842 --- --- --- --- TSC22D4 81628 broad.mit.edu 37 7 100075542 100075543 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100075542_100075543insG ENST00000300181.2 - 2 873_874 c.119_120insC c.(118-120)cccfs p.P40fs TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 40 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGCGGGGCGGGGGCCCGGT 0.708 7 170 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 10 858 --- --- --- --- UFSP1 402682 broad.mit.edu 37 7 100486697 100486697 + Frame_Shift_Del DEL C C - rs138095729 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:100486697delC ENST00000388761.2 - 1 642 c.196delG c.(196-198)acfs p.D66fs NM_001015072.3 NP_001015072.2 Q6NVU6 UFSP1_HUMAN UFM1-specific peptidase 1 (non-functional) 66 lung(1)|stomach(1) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GCATCTGCGTCCCCCCCAACC 0.647 10 1233 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:135047688delG ENST00000541284.1 - 12 2421 c.2091delC c.(2089-2091)ccfs p.P697fs CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 366 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGGTTTTGCTGGGGGGTCTGA 0.532 7 1708 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:151874148delT ENST00000355193.2 - 38 8608 c.8390delA c.(8389-8391)agfs p.K2797fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs lysine (K)-specific methyltransferase 2C p.K2797fs*26(20) TTCTTGTTCCTTTTTTTTTGG 0.348 23 386 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 7 419 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 10 511 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 8 42 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18729796 18729796 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:18729796delT ENST00000440756.2 - 3 680 c.578delA c.(577-579)atfs p.N193fs PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 193 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTCTGGTAAATTTTTTTGGCC 0.438 8 996 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 8 202 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 9 1159 --- --- --- --- TERF1 7013 broad.mit.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:73921284_73921286delGAG ENST00000276602.6 + 1 186_188 c.163_165delGAG c.(163-165)del p.E62del TERF1_ENST00000276603.5_In_Frame_Del_p.E62del NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 62 Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GGGGGCCCCCgaggaggaggagg 0.650 11 218 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 7 838 --- --- --- --- LAPTM4B 55353 broad.mit.edu 37 8 98788016 98788017 + Frame_Shift_Del DEL GT GT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:98788016_98788017delGT ENST00000445593.2 + 1 732_733 c.52_53delGT c.(52-54)cfs p.V18fs LAPTM4B_ENST00000521545.2_5'UTR NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 71 transport endomembrane system|integral to membrane protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) CCCCCTCCCCGTCCCCGCCGCT 0.713 10 66 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 8 447 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 16 555 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 9 345 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 8 1980 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 9 496 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 9 497 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 9 120 --- --- --- --- HABP4 22927 broad.mit.edu 37 9 99250415 99250416 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:99250415_99250416insC ENST00000375249.4 + 7 1119_1120 c.1044_1045insC c.(1042-1047)aaccgcfs p.R349fs HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 349 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) TTTTCCGGAAACCCGCCAATGA 0.530 11 516 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 10 345 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr9:135277388delT ENST00000334270.2 - 2 860 c.821delA c.(820-822)agfs p.K274fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 274 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TTTCTTAGACTTTTTTTTGTG 0.473 11 471 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:17113554delA ENST00000377833.4 - 19 2561 c.2496delT c.(2494-2496)ttfs p.F832fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 832 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACACGTTAGGAAAAAAAGGCG 0.413 7 349 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 7 588 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 21 1253 --- --- --- --- MUC2 4583 broad.mit.edu 37 11 1093684 1093684 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:1093684delC ENST00000441003.2 + 30 5530 c.5503delC c.(5503-5505)ccfs p.P1836fs MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Frame_Shift_Del_p.P124fs NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1839 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AAGCACGGGGCCCCCCACCCA 0.617 7 1267 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602546 5602546 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:5602546delC ENST00000345043.2 + 1 440 c.440delC c.(439-441)tcfs p.S147fs AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCATCTGCTCCCCCCTGCGA 0.507 7 1093 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 8 1280 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 8 406 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299856 62299856 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:62299856delC ENST00000378024.4 - 5 2307 c.2033delG c.(2032-2034)gafs p.G678fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 678 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTAAGTTTTCCCCCCAGACC 0.478 7 1302 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 8 259 --- --- --- --- SF3B2 10992 broad.mit.edu 37 11 65836145 65836146 + Splice_Site INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:65836145_65836146insA ENST00000528302.1 + 21 2620_2621 c.2565_splice c.e21-1 p.K856_splice RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Splice_Site_p.K873_splice Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 873 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCTATACAGCAAAAAAAACGG 0.515 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 582 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 11 232 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 13 78 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108044434 108044434 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:108044434delT ENST00000278612.8 - 13 1382 c.1277delA c.(1276-1278)agfs p.K426fs NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 426 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTTAAAGGCCTTTTTCTGTAT 0.383 7 985 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 7 471 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 7 475 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 16 1059 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - rs149369172 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr11:129752496delT ENST00000446488.3 - 9 1035 c.932delA c.(931-933)agfs p.K311fs NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCCTTAACCTTTTTTTTAAG 0.438 7 609 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 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 central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 10 1810 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:18841025delT ENST00000447925.2 - 13 1852 c.1583delA c.(1582-1584)atfs p.N528fs PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000538330.1_Frame_Shift_Del_p.N312fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 530 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAGCTCACCATTTTTTTTAAT 0.294 7 551 --- --- --- --- SLCO1B3 28234 broad.mit.edu 37 12 21028267 21028267 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:21028267delT ENST00000381545.3 + 9 1045 c.826delT c.(826-828)ttfs p.F278fs LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 278 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTCCATACCATTTTTTTTCTT 0.363 8 729 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATCGTCCCTTTTTTTGTTA 0.358 12 733 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 9 874 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. 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 TGGGGGAGGGGGTGGTGGTGGTG 0.483 8 328 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:54645832delT ENST00000209875.4 - 3 453 c.317delA c.(316-318)agfs p.K106fs CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 106 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TACCTCTCTCTTTTTTTTAGA 0.323 10 1178 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:56559113delG ENST00000394023.3 - 27 3326 c.3221delC c.(3220-3222)ctfs p.P1074fs SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATGGGGTCCAGGGGGGGGAAC 0.577 11 797 --- --- --- --- RP11-74M13.4 0 broad.mit.edu 37 12 57255299 57255300 + RNA INS - - A rs139092727 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:57255299_57255300insA ENST00000557452.1 + 0 720 ATGGAAGAAGGAAaaaaaaata 0.426 10 385 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 12 1415 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:57921401delC ENST00000355673.3 + 8 2550 c.2194delC c.(2194-2196)ccfs p.P733fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 733 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTCAGGGAGACCCCCCCAACT 0.602 9 2044 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58177051 58177052 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:58177051_58177052insG ENST00000454289.3 + 2 429_430 c.216_217insG c.(214-219)gggggafs p.GG72fs TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 72 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGACTTGTGGCGGGGACCTCAA 0.569 18 2258 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59268350 59268351 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:59268350_59268351insG ENST00000320743.3 - 17 2986_2987 c.2700_2701insC c.(2698-2703)acgccafs p.P901fs LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 901 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCAATATGGCAGGTCCCTTTGA 0.401 T ROS1 NSCLC 12 756 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812754 64812755 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:64812754_64812755insT ENST00000332707.5 + 6 898_899 c.369_370insT c.(367-372)aattttfs p.NF123fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 123 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AGTGGCCCAAGTTTTTTTTTGA 0.441 9 454 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 494 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_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) 10 239 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 9 501 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 17 1649 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 12 1301 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32376429 32376429 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:32376429delA ENST00000298386.2 + 18 2223 c.2152delA c.(2152-2154)aafs p.K720fs RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 720 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTCAAAATTAAAAAAAAAAG 0.348 46 1078 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36397008 36397008 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:36397008delC ENST00000255448.4 - 11 1623 c.1412delG c.(1411-1413)gafs p.G471fs DCLK1_ENST00000379893.1_Frame_Shift_Del_p.G164fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G471fs NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 471 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAAAAGGTCTCCCCCCTGAGA 0.517 7 721 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 15 1536 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 14 946 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 13 616 --- --- --- --- RP11-597A11.6 0 broad.mit.edu 37 14 20146543 20146544 + RNA INS - - GTCCC rs60511353 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:20146543_20146544insGTCCC ENST00000555580.1 - 0 225 CCAACTCAGCAGAACAGTGTCA 0.505 8 128 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 11 87 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020942 23020942 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:23020942delT ENST00000478163.3 + 0 819 GAGGGGTTTATTTTTTTTTAA 0.468 9 298 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 8 900 --- --- --- --- DPPA3P2 0 broad.mit.edu 37 14 36841115 36841115 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:36841115delT ENST00000557188.1 + 0 746 TTCTTGCACCTTTTTTTCTTG 0.358 7 600 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 10 490 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 445 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45716018 45716019 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:45716018_45716019insT ENST00000310806.4 - 2 929_930 c.471_472insA c.(469-474)aatgcafs p.NA157fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 157 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K157fs*24(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GTATGCTGCAATTTTTTTTTTT 0.356 41 552 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174303 63174303 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:63174303delG ENST00000322893.7 - 11 3158 c.2890delC c.(2890-2892)agfs p.Q964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATGGTATCTGGGGGGGTACT 0.393 7 1503 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 7 56 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72054755 72054755 + Frame_Shift_Del DEL C C - rs12884638 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:72054755delC ENST00000555818.1 + 2 514 c.166delC c.(166-168)ccfs p.P57fs SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.P57fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.P57fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 57 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCCTGTAGGACCCCCCCGAAG 0.532 8 926 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 13 269 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88945628 88945630 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:88945628_88945630delTCC ENST00000556564.1 - 13 2429_2431 c.2145_2147delGGA c.(2143-2148)gac>ga p.ED717del PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 717 Poly-Glu. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GAAGTCCTCGTCCTCCTCCTCCT 0.704 7 402 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761192 93761193 + Frame_Shift_Ins INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:93761192_93761193insT ENST00000334746.5 - 3 480_481 c.173_174insA c.(172-174)aagfs p.K58fs BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CAGAGGTTCTCTTTTTTTTGTC 0.441 11 1126 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 10 949 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23333801 23333802 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:23333801_23333802insA ENST00000560464.1 - 0 908 ACTTACAGTTCAAAAAAAAAAA 0.441 7 59 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 11 442 --- --- --- --- UBE3A 7337 broad.mit.edu 37 15 25601871 25601871 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:25601871delT ENST00000232165.3 - 8 2582 c.1926delA c.(1924-1926)aafs p.K642fs UBE3A_ENST00000566215.1_Frame_Shift_Del_p.K622fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Frame_Shift_Del_p.K645fs|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.K622fs|UBE3A_ENST00000428984.2_Frame_Shift_Del_p.K622fs NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 645 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GAAAAGTTCCTTTTTTCCCCA 0.338 7 1669 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 847 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:44843099delA ENST00000261868.5 + 3 311 c.173delA c.(172-174)gafs p.E58fs EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 58 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.K60fs*36(1) endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GATGATGATGAAAAAAAAGAG 0.358 7 755 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45754119 45754121 + RNA DEL CAC CAC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:45754119_45754121delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA ccaccaccatcaccaccaccacc 0.571 8 22 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:64967246_64967247insA ENST00000326648.3 + 4 2321_2322 c.2193_2194insA c.(2191-2196)gaaaaafs p.EK731fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 10 1456 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 26 822 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 7 538 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 1786 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 7 73 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 11 993 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28846491 28846491 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:28846491delC ENST00000336783.4 + 19 2713 c.2546delC c.(2545-2547)acfs p.T849fs RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.T855fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.T849fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.T849fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 849 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GAGCAGCCTACCCCCCAAGCC 0.622 7 1322 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 648 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 10 2071 --- --- --- --- SLC5A2 6524 broad.mit.edu 37 16 31498693 31498693 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:31498693delG ENST00000330498.3 + 6 646 c.627delG c.(625-627)ctfs p.L209fs AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 209 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCGTCATTCTGGGGGGCGCCT 0.677 7 1791 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 9 451 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327780 67327781 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:67327780_67327781insG ENST00000304372.5 - 12 1939_1940 c.1884_1885insC c.(1882-1887)ccccacfs p.H629fs NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 629 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) ATGGGAGTGGCGGGAGGGTCTT 0.540 15 1657 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del 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 13 429 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77334227 77334228 + Frame_Shift_Ins INS - - G rs148849944 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:77334227_77334228insG ENST00000282849.5 - 17 3024_3025 c.2606_2607insC c.(2605-2607)cgcfs p.R869fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 869 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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 TTTTTGTGGCTGGTGGAGTTCC 0.460 8 401 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 8 41 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 13 1000 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 15 756 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6904974 6904974 + Frame_Shift_Del DEL C C - rs138651024 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:6904974delC ENST00000251535.6 + 8 1058 c.1005delC c.(1003-1005)gafs p.D335fs AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 335 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 TGCCCTCAGACCCCCCACTTG 0.517 7 2011 --- --- --- --- BCL6B 255877 broad.mit.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:6927858delC ENST00000293805.5 + 4 632 c.540delC c.(538-540)ggfs p.G180fs BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 180 Pro-rich. nucleus zinc ion binding p.S183fs*6(1) skin(1) 1 GCAGTCAAGGCCCCCCCAGTC 0.617 8 1355 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 7 795 --- --- --- --- MYH2 4620 broad.mit.edu 37 17 10434975 10434975 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:10434975delT ENST00000245503.5 - 22 3056 c.2672delA c.(2671-2673)atfs p.N891fs MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Frame_Shift_Del_p.N891fs|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 891 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGCAAGTCATTTTTTTCTTT 0.433 7 686 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 8 899 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 8 51 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 7 358 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_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 10 587 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 11 470 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 11 110 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr17:62496298delT ENST00000225792.5 - 13 1989 c.1588delA c.(1588-1590)ctfs p.T530fs DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 530 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCATTCTGAGTTTTTGCCCCA 0.413 T ETV4 prostate 8 1518 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7038885 7038885 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:7038885delT ENST00000389658.3 - 11 1580 c.1487delA c.(1486-1488)acfs p.N496fs NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 496 Laminin EGF-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCCGGGGGTTTTTTTCCTT 0.532 7 1096 --- --- --- --- FAM210A 125228 broad.mit.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - rs143162930 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:13681751delT ENST00000322247.3 - 3 713 c.326delA c.(325-327)agfs p.K109fs FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 109 integral to membrane p.K109fs*29(1) AGGCTCTTCCTTTTTTTCCGG 0.433 10 994 --- --- --- --- ANKRD20A5P 0 broad.mit.edu 37 18 14184163 14184164 + RNA INS - - T TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:14184163_14184164insT ENST00000581935.1 + 0 852_853 lung(3) 3 GGTAAGGGTCAATTTTTTATAT 0.282 8 335 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 24 1238 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 13 386 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 8 625 --- --- --- --- ZNF570 148268 broad.mit.edu 37 19 37976034 37976034 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:37976034delA ENST00000330173.1 + 5 2039 c.1510delA c.(1510-1512)aafs p.K505fs ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs|ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAAGGAATGCAAAAAAACCTT 0.448 7 904 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:39330958_39330959insG ENST00000221419.5 - 8 1376_1377 c.1010_1011insC c.(1009-1011)cccfs p.P337fs HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P204fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 337 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CGTAGTGAGGTGGGGGGGGCCC 0.668 8 189 --- --- --- --- AXL 558 broad.mit.edu 37 19 41743933 41743933 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:41743933delC ENST00000301178.4 + 7 1058 c.868delC c.(868-870)ccfs p.P291fs AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs|AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 291 Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AGCATCCGTGCCCCCCCATCA 0.647 11 1219 --- --- --- --- EXOSC5 56915 broad.mit.edu 37 19 41903203 41903203 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:41903203delT ENST00000221233.4 - 1 181 c.31delA c.(31-33)tcfs p.I11fs BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 11 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 TCAGCACGGATTTTGGCGTCA 0.647 7 1407 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 20 1416 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 7 601 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50156709 50156711 + In_Frame_Del DEL GGA GGA - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:50156709_50156711delGGA ENST00000360565.3 + 7 3187_3189 c.3063_3065delGGA c.(3061-3066)gcg>gc p.AE1021del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1021 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GAGGTGGGGCggaggaggaggag 0.655 7 89 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 8 448 --- --- --- --- SIGLEC7 27036 broad.mit.edu 37 19 51645628 51645630 + Translation_Start_Site DEL TGC TGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:51645628_51645630delTGC ENST00000317643.6 + 0 71_73 SIGLEC7_ENST00000305628.7_Start_Codon_Del|SIGLEC7_ENST00000600577.1_Start_Codon_Del NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACCCCAGATAtgctgctgctgct 0.596 7 294 --- --- --- --- ZNF211 0 broad.mit.edu 37 19 58153483 58153484 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr19:58153483_58153484insA ENST00000544273.1 + 5 1992_1993 c.1665_1666insA c.(1663-1668)ggaatcfs p.I556fs ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000299871.5_Frame_Shift_Ins_p.I609fs|ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.I548fs|ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.I557fs|ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.I544fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.I483fs Q13398 ZN211_HUMAN zinc finger protein 211 544 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K557E(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTCAATGTGGGAAATCCTTTGG 0.431 735 716 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 10 433 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:23065523delC ENST00000246006.4 - 1 1454 c.1307delG c.(1306-1308)gcfs p.G436fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 436 EGF-like 5; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGAGGGGGCCCCCCGGGCC 0.637 8 897 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:29628229_29628230insA ENST00000278882.3 + 6 611_612 c.231_232insA c.(229-234)ggaaatfs p.N78fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 83 1276 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr20:43052773_43052775delGCT ENST00000316099.3 + 8 1097_1099 c.1008_1010delGCT c.(1006-1011)gag>ga p.EL336del HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 336 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTTTGGAGAGCTGCTGCTGCTG 0.576 7 205 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 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) ACTTAATGTCAAAAAAAATGT 0.299 16 684 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15347435 15347436 + RNA INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr21:15347435_15347436insA ENST00000344693.5 - 0 736 NR_027270.1 CTTCCAAATATAAAAAATTGAC 0.287 32 361 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19349302 19349304 + In_Frame_Del DEL TTC TTC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:19349302_19349304delTTC ENST00000263208.5 - 16 2182_2184 c.1926_1928delGAA c.(1924-1929)aaa>aa p.KK642del HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_In_Frame_Del_p.KK598del|HIRA_ENST00000546308.1_In_Frame_Del_p.KK598del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 642 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGGCCGCCCTTTCTTCTTCTTCT 0.537 8 1453 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding 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) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 222 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 12 449 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24515602 24515602 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:24515602delC ENST00000398319.2 + 28 4954 c.4569delC c.(4567-4569)ttfs p.F1523fs CABIN1_ENST00000405822.2_Frame_Shift_Del_p.F1444fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.F1523fs NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1523 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGAGCCGCTTCCCCCAGCACT 0.642 8 1655 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30408494 30408494 + Frame_Shift_Del DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:30408494delC ENST00000333027.3 + 13 1587 c.1259delC c.(1258-1260)acfs p.T420fs CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.T420fs NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 420 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGGACCGCACCCCCCAGATT 0.547 8 2860 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 21 1246 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 10 1080 --- --- --- --- CRELD2 79174 broad.mit.edu 37 22 50315936 50315973 + Splice_Site DEL CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG - rs71805922 by1000genomes TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG ENST00000404488.3 + 6 727_756 c.592_splice c.e6-1 p.198_splice CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000403427.3_Intron NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 197 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC 0.622 7 101 --- --- --- --- MSL3 10943 broad.mit.edu 37 X 11783683 11783683 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:11783683delA ENST00000337339.2 + 9 1033 c.1006delA c.(1006-1008)aafs p.K336fs MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 336 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 AGCCACCCCCAAAAGGCGCAA 0.592 7 1532 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 13 496 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41205517 41205517 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:41205517delA ENST00000399959.2 + 13 2206 c.1351delA c.(1351-1353)aafs p.K452fs DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.K436fs NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 452 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TGTGGAGACCAAAAAGGGTGC 0.433 HNSCC(61;0.18) 7 1123 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350672 50350674 + In_Frame_Del DEL TCT TCT - rs3747282 byFrequency TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:50350672_50350674delTCT ENST00000376020.2 - 6 3493_3495 c.3468_3470delAGA c.(3466-3471)gag>ga p.EE1156del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1156 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.E1156E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGGCAGctcctcttcctcctcct 0.557 7 159 --- --- --- --- EDA 1896 broad.mit.edu 37 X 68836236 68836237 + Frame_Shift_Ins INS - - G rs41539891 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:68836236_68836237insG ENST00000374552.4 + 1 326_327 c.84_85insG c.(82-87)gggggcfs p.GG28fs EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 28 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GCGGGTGTGGCGGGGCCCCTGC 0.708 11 389 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70602999 70603000 + Frame_Shift_Ins INS - - A TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:70602999_70603000insA ENST00000449580.1 + 12 1980_1981 c.1929_1930insA c.(1927-1932)ataaaafs p.IK643fs TAF1_ENST00000276072.3_Frame_Shift_Ins_p.IK664fs|TAF1_ENST00000373790.4_Frame_Shift_Ins_p.IK643fs|TAF1_ENST00000423759.1_Frame_Shift_Ins_p.IK664fs P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 643 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TAAAGCACATCAAAAAAAAGGC 0.406 9 434 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 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 30 414 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:73046080delT ENST00000604411.1 + 0 34041 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGCCTGGCACTTTTTTTTCCC 0.423 9 808 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del 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 13 862 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 7 1101 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 10 1755 --- --- --- --- DDX26B 203522 broad.mit.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:134680317delT ENST00000370752.4 + 4 686 c.352delT c.(352-354)ttfs p.F119fs DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 119 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAATCCATTTTTTTTAGA 0.274 7 315 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 11 1976 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 9 929 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152225996 152225997 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:152225996_152225997insG ENST00000447306.1 + 2 920_921 c.584_585insG c.(583-585)cgtfs p.R195fs PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 195 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) cagatgtggcaggtgcccgagg 0.574 7 691 --- --- --- --- PNMA3 29944 broad.mit.edu 37 X 152226003 152226004 + Frame_Shift_Ins INS - - G TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:152226003_152226004insG ENST00000447306.1 + 2 927_928 c.591_592insG c.(589-594)ccagggfs p.G198fs PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 198 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ggcaggtgcccgagggggaaaa 0.574 7 659 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714159 153714160 + Frame_Shift_Ins INS - - G rs150392222 TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:153714159_153714160insG ENST00000369660.4 - 3 398_399 c.313_314insC c.(313-315)ccafs p.P105fs UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs|UBL4A_ENST00000477777.1_5'UTR NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 105 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGAAGTGGCGGGCCAAGACT 0.629 19 1502 --- --- --- --- IL9R 3581 broad.mit.edu 37 X 155239799 155239801 + In_Frame_Del DEL AGC AGC - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrX:155239799_155239801delAGC ENST00000424344.3 + 10 1595_1597 c.1228_1230delAGC c.(1228-1230)del p.S417del IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_In_Frame_Del_p.S438del|IL9R_ENST00000540897.1_3'UTR Q01113 IL9R_HUMAN interleukin 9 receptor 438 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGgcagcaggagcagcagcagca 0.621 8 261 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-H6-8124-01A-11D-2396-08 TCGA-H6-8124-11A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 575ab748-dec0-42a8-85a6-1e337f07b129 f330d800-8680-4db1-838b-b0130e2ce6c2 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 13 159 --- --- --- ---