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 KCNA6 3742 broad.mit.edu 37 12 4920057 4920057 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:4920057G>A ENST00000433855.1 + 1 1716 c.850G>A c.(850-852)Gcc>Acc p.A284T KCNA6_ENST00000280684.3_Missense_Mutation_p.A284T NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 284 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCGCTTCTCCGCCTGCCCTAG 0.542000 HNSCC(72;0.22) 258 381 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28841310 28841310 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:28841310C>T ENST00000336783.4 + 8 1132 c.965C>T c.(964-966)aCt>aTt p.T322I ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 322 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GATGGGCGCACTGAAGAGGAG 0.612000 128 212 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184677 130184677 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:130184677C>T ENST00000422113.2 - 2 972 c.646G>A c.(646-648)Gtg>Atg p.V216M NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 216 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGCTGGTCCACGGACTTCCTC 0.692000 132 186 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 28 387 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32955744 32955744 + Silent SNP A A G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:32955744A>G ENST00000399302.2 + 4 2888 c.2553A>G c.(2551-2553)gtA>gtG p.V851V QSER1_ENST00000527788.1_Silent_p.V612V NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 851 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TATCAAATGTAGATGATATCT 0.383000 426 442 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55616938 55616938 + Missense_Mutation SNP G G T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:55616938G>T ENST00000373965.2 - 29 4218 c.3824C>A c.(3823-3825)aCa>aAa p.T1275K PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1268K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1268 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAATTACTCTGTAAGATCTTC 0.313000 HNSCC(58;0.16) 94 92 3.21569e-47 3.44745e-47 1 1 0 COL24A1 255631 broad.mit.edu 37 1 86497562 86497562 + Splice_Site SNP C C G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:86497562C>G ENST00000370571.2 - 14 2414 c.2049_splice c.e14+1 p.R683_splice COL24A1_ENST00000436319.1_Splice_Site_p.R683_splice NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 683 Collagen-like 3. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GATACTCACTCTAAGCCCAGG 0.338000 202 288 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(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 0.527000 T MLL ALL 10 331 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107925082 107925082 + Missense_Mutation SNP G G T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:107925082G>T ENST00000328300.6 + 47 4424 c.4180G>T c.(4180-4182)Ggt>Tgt p.G1394C COL4A5_ENST00000361603.2_Missense_Mutation_p.G1388C NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1388 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGGCTAAAGGGTCTACCAGG 0.458000 Alport syndrome with Diffuse Leiomyomatosis 115 174 5.10254e-61 5.52002e-61 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 11 441 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60491098 60491098 + Missense_Mutation SNP C C G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:60491098C>G ENST00000371201.3 - 8 1209 c.1102G>C c.(1102-1104)Gat>Cat p.D368H C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 368 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TAACCCAAATCTTGATGGTTA 0.363000 96 195 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 250 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 7 379 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35218359 35218359 + Missense_Mutation SNP T T G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:35218359T>G ENST00000428726.2 + 6 857 c.734T>G c.(733-735)tTt>tGt p.F245C CD44_ENST00000263398.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.F245C|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000278386.6_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 245 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TGGGATTGGTTTTCATGGTTG 0.378000 84 226 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413745 72413745 + Silent SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:72413745C>T ENST00000395270.1 + 14 3459 c.2418C>T c.(2416-2418)tcC>tcT p.S806S POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1071 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 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) CCACCAGCTCCGGCTTTGGAG 0.657000 8 366 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 441 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 6 237 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) 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) aggaggaggaagaggaggagg 0.572000 6 183 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38087134 38087134 + Missense_Mutation SNP T T C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:38087134T>C ENST00000308059.6 + 2 533 c.512T>C c.(511-513)aTg>aCg p.M171T DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T|DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 171 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAGCGGGTCATGAGCCAGGCT 0.532000 166 231 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 3 51 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 24048945 24048945 + Nonsense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:24048945G>A ENST00000546136.1 - 1 15 c.13C>T c.(13-15)Cga>Tga p.R5* SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000451604.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5* P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 18 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GAGGCTGGTCGCTTGGAAGAC 0.493000 382 452 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 3 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179655562 179655562 + Missense_Mutation SNP T T C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:179655562T>C ENST00000589042.1 - 11 1897 c.1673A>G c.(1672-1674)gAa>gGa p.E558G TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E558G|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 558 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTCAGTTTCCTGTCTTAT 0.393000 214 343 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644624 20644624 + RNA SNP G G T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:20644624G>T ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGGGAAGGGAGACGGCCACCC 0.637000 17 166 4.14922e-12 4.22014e-12 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 11 426 0 0 1 0 0 IGKV2D-24 0 broad.mit.edu 37 2 90044354 90044354 + RNA SNP C C A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:90044354C>A ENST00000462693.1 + 0 305 GGCAGTGGGGCAGGGACAGAT 0.512000 395 859 1.22852e-136 1.34123e-136 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119251 38119251 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:38119251G>A ENST00000406386.3 + 7 943 c.688G>A c.(688-690)Ggg>Agg p.G230R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 230 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) GGGAGAAAGCGGGTTGTCCCT 0.647000 76 170 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 10 305 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760941 20760941 + Missense_Mutation SNP A A G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:20760941A>G ENST00000400451.2 + 5 2132 c.1618A>G c.(1618-1620)Aac>Gac p.N540D ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D|ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 540 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTTCAGCCAGAACCACTGTCT 0.547000 202 409 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 18 539 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 864531 864531 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:864531C>T ENST00000314167.4 - 19 2326 c.2216G>A c.(2215-2217)cGg>cAg p.R739Q GAK_ENST00000511163.1_Missense_Mutation_p.R660Q|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 739 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CTGCTCCTCCCGGCTGGAAAA 0.562000 17 472 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18462359 18462359 + Missense_Mutation SNP T T G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:18462359T>G ENST00000338745.6 - 2 1835 c.101A>C c.(100-102)gAg>gCg p.E34A SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|SATB1_ENST00000417717.2_Missense_Mutation_p.E34A NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 34 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CCCGTTCTGCTCCAGGCGGGC 0.507000 375 516 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 7 108 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215960150 215960150 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:215960150C>T ENST00000366943.2 - 52 10635 c.10249G>A c.(10249-10251)Gac>Aac p.D3417N USH2A_ENST00000307340.3_Missense_Mutation_p.D3417N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3417 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGTTGAAGTCACACCTGCCA 0.493000 HNSCC(13;0.011) 62 206 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33386077 33386077 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:33386077C>T ENST00000537089.1 - 5 565 c.247G>A c.(247-249)Gag>Aag p.E83K AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K O14520 AQP7_HUMAN aquaporin 7 175 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) CCACTGACCTCATTCAGGAAG 0.592000 9 369 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42580334 42580334 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:42580334G>A ENST00000381668.5 - 12 1302 c.1071C>T c.(1069-1071)atC>atT p.I357I ATP8A1_ENST00000264449.10_Silent_p.I357I NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 357 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CCAATAAGCTGATAGGAATGA 0.348000 220 325 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26872417 26872417 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:26872417G>A ENST00000531382.1 + 1 75 c.26G>A c.(25-27)cGt>cAt p.R9H RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron NM_001006665.1 NP_001006666.1 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 0 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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 ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AAGCCGCCCCGTCTGCGGCTC 0.716000 37 38 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity 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 0.537000 12 314 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138641963 138641963 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:138641963G>A ENST00000298480.5 + 3 348 c.274G>A c.(274-276)Gtc>Atc p.V92I KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 92 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGAGTTCTACGTCAACGAGAA 0.607000 5 223 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32196436 32196436 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:32196436C>T ENST00000373658.3 - 29 4686 c.4345G>A c.(4345-4347)Gtg>Atg p.V1449M BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M|BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1449 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GAGCCGGGCACGGTGCGAGGC 0.647000 93 401 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129195581 129195581 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:129195581C>T ENST00000296266.3 + 12 1429 c.1237C>T c.(1237-1239)Cgc>Tgc p.R413C IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000348417.2_Missense_Mutation_p.R362C|IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 362 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTACAAGGACCGCTATGCCTA 0.537000 180 252 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723069 49723069 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:49723069G>A ENST00000449682.2 - 11 1708 c.1347C>T c.(1345-1347)gaC>gaT p.D449D MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 435 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGTCCTTGGGTCCATCGTGT 0.612000 125 185 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 86 73 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635419 42635419 + Missense_Mutation SNP G G T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:42635419G>T ENST00000358131.5 + 3 633 c.425G>T c.(424-426)gGc>gTc p.G142V TOX2_ENST00000341197.3_Missense_Mutation_p.G133V|TOX2_ENST00000423191.1_Missense_Mutation_p.G91V|TOX2_ENST00000372999.1_Missense_Mutation_p.G91V NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTGCTGTCGGGCCAGCTGCCC 0.587000 54 131 9.72345e-25 1.02397e-24 1 1 0 POTEC 388468 broad.mit.edu 37 18 14542998 14542998 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr18:14542998C>T ENST00000358970.5 - 1 147 c.148G>A c.(148-150)Gac>Aac p.D50N POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 50 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGGAGTCGTCGTGGTCTCCA 0.592000 150 2348 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16816215 16816215 + RNA SNP C C A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:16816215C>A ENST00000263511.4 - 0 1155 NR_023386.1 TGACCAGCCGCCGGAACCCCA 0.582000 47 111 1.86633e-21 1.94819e-21 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 16 347 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 4 81 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49936017 49936017 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:49936017C>T ENST00000296474.3 - 4 1680 c.1653G>A c.(1651-1653)atG>atA p.M551I MST1R_ENST00000344206.4_Missense_Mutation_p.M551I NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 551 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCTGGCCGCACATGTTCCCAC 0.602000 207 334 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217947827 217947827 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:217947827G>A ENST00000366933.4 + 7 726 c.671G>A c.(670-672)cGt>cAt p.R224H NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 224 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ACAAGCGCCCGTTCTTTTCCT 0.403000 146 201 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T T G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:124062285T>G ENST00000373818.4 + 1 213 c.e1+2 GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000545652.1_Intron NM_000177.4|NM_001258029.1 NP_000168.1|NP_001244958.1 P06396 GELS_HUMAN gelsolin actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 gaggcgcgggtgagtgcccgg 0.697000 44 130 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99912180 99912180 + Silent SNP G G A rs858635 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:99912180G>A ENST00000332397.6 + 6 1192 c.1008G>A c.(1006-1008)ccG>ccA p.P336P SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 336 p.P336P(10) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCAGCCCCCCGCGTAGGTCCC 0.577000 7 371 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785784 140785784 + Silent SNP T T A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:140785784T>A ENST00000370515.3 - 2 465 c.132A>T c.(130-132)acA>acT p.T44T NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) AGGACTCAGATGTTTTTAGTT 0.478000 27 1116 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79090455 79090455 + Splice_Site SNP T T C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:79090455T>C ENST00000388820.4 - 3 667 c.456_splice c.e3-1 p.K153_splice ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 153 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AACACACCTTTCTGGGGAAGA 0.652000 167 149 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_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) 37 67 5.20837e-25 5.53389e-25 1 1 0 CYB5R4 51167 broad.mit.edu 37 6 84649843 84649843 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:84649843C>T ENST00000369681.4 + 13 1317 c.1177C>T c.(1177-1179)Ctc>Ttc p.L393F CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 393 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) ATTAGAAGATCTCTTTTTGTT 0.348000 207 179 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 287 0 0 1 0 0 UNC50 25972 broad.mit.edu 37 2 99226308 99226308 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:99226308C>T ENST00000409975.1 + 1 1267 c.137C>T c.(136-138)gCg>gTg p.A46V UNC50_ENST00000409347.1_Missense_Mutation_p.A46V|UNC50_ENST00000357765.2_Missense_Mutation_p.A29V Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 29 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 ACAGCCGGAGCGAAACGCTAC 0.493000 497 999 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 11 661 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88483870 88483870 + Missense_Mutation SNP A A G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:88483870A>G ENST00000394480.1 - 15 2021 c.1700T>C c.(1699-1701)aTg>aCg p.M567T NTRK3_ENST00000542733.2_Missense_Mutation_p.M469T|NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T|NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000360948.2_Missense_Mutation_p.M567T NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 567 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCCACAAGCATCTTGTCCTT 0.592000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 205 238 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 16 150 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105879775 105879775 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:105879775G>A ENST00000372548.4 + 7 1415 c.1306G>A c.(1306-1308)Gca>Aca p.A436T CXorf57_ENST00000372544.2_Missense_Mutation_p.A436T NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 436 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCTCTAGTGGCATATTTTGT 0.343000 6 269 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139093 178139093 + Missense_Mutation SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr5:178139093G>A ENST00000335815.2 - 5 1983 c.1786C>T c.(1786-1788)Cat>Tat p.H596Y NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 596 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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;0.185) ATTTTATAATGATTAGTAAGG 0.373000 138 119 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296531 153296531 + Missense_Mutation SNP G G A rs61750225 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:153296531G>A ENST00000303391.6 - 4 997 c.748C>T c.(748-750)Cgc>Tgc p.R250C MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.R262C NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 250 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCCGGGGCGTTTGATCACC 0.642000 34 686 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 8 207 0 0 1 0 0 COMMD4 54939 broad.mit.edu 37 15 75631625 75631625 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:75631625C>T ENST00000267935.8 + 6 521 c.322C>T c.(322-324)Cgc>Tgc p.R108C COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C|COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 108 cytoplasm protein binding p.R108C(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 CAGCCTGTGCCGCTGTTATGA 0.612000 10 154 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664070 124664070 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:124664070C>T ENST00000325995.7 - 1 1120 c.1097G>A c.(1096-1098)gGg>gAg p.G366E CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 366 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CATGGGCTCCCCCAGCCTCCA 0.572000 199 434 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220414568 220414568 + Missense_Mutation SNP C C T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:220414568C>T ENST00000344458.2 + 6 1660 c.1075C>T c.(1075-1077)Cgg>Tgg p.R359W TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W Q66K66 TM198_HUMAN transmembrane protein 198 359 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CCCCCCAGTGCGGGTATAGCC 0.622000 190 421 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 13 258 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 8 51 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 11 371 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 9 355 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:46752129delA ENST00000343304.6 - 4 685 c.400delT c.(400-402)ccfs p.S134fs LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 134 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGAACATGGGAAAAAAAGGCC 0.483 11 502 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 10 208 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 10 399 --- --- --- --- SRSF11 9295 broad.mit.edu 37 1 70716118 70716120 + In_Frame_Del DEL AAG AAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:70716118_70716120delAAG ENST00000370950.3 + 12 1271_1273 c.1189_1191delAAG c.(1189-1191)del p.K400del SRSF11_ENST00000370951.1_In_Frame_Del_p.K400del|SRSF11_ENST00000405432.1_In_Frame_Del_p.K400del|SRSF11_ENST00000370949.1_In_Frame_Del_p.K340del|SRSF11_ENST00000484162.1_3'UTR Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 400 Poly-Lys. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 atcaacaagcaagaagaagaaga 0.315 7 486 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 10 208 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 12 311 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_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 11 356 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del 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 10 1591 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 21 70 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 191 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 10 598 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 12 638 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 18 899 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 8 211 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 579 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 11 416 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 21 448 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 7 1247 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 13 741 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:39222520delT ENST00000426016.1 - 21 3176 c.3090delA c.(3088-3090)aafs p.K1030fs SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1030 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GATAGCTATATTTTTTTGGCT 0.388 Noonan syndrome 8 771 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 26 785 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 9 323 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 7 588 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 12 626 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 7 317 --- --- --- --- MRPS5 64969 broad.mit.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:95775728delT ENST00000272418.2 - 4 544 c.336delA c.(334-336)aafs p.K112fs NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 112 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCCTCTTCCTTTTTTTGCTC 0.383 8 1024 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 1736 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:100055102delT ENST00000258428.3 - 6 1402 c.1174delA c.(1174-1176)tgfs p.M392fs REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 392 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGTTTTCATTTTTTTTAAC 0.348 Direct reversal of damage 8 785 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 8 99 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 9 765 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 16 547 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178062 158178064 + In_Frame_Del DEL ATC ATC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:158178062_158178064delATC ENST00000410096.1 - 3 865_867 c.574_576delGAT c.(574-576)del p.D192del ERMN_ENST00000420719.2_In_Frame_Del_p.D172del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del|ERMN_ENST00000535935.1_In_Frame_Del_p.D86del NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 192 Poly-Asp. cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 tattgcaattatcatcatcatca 0.365 8 913 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178977303 178977304 + Frame_Shift_Ins INS - - G rs146365140 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:178977303_178977304insG ENST00000286070.5 + 1 122_123 c.30_31insG c.(28-33)ggggggfs p.GG10fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 10 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CTGCGAGCGGCGGGGGCTTCCG 0.644 OREG0015102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 467 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 11 785 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 11 3267 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR 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 9 619 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660050 227660052 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:227660050_227660052delGCT ENST00000305123.4 - 1 4423_4425 c.3403_3405delAGC c.(3403-3405)del p.S1135del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1135 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TCACATCCTCGCTGCTGCTGCTG 0.640 8 537 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233785144 233785146 + In_Frame_Del DEL CTC CTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr2:233785144_233785146delCTC ENST00000264051.3 - 5 954_956 c.676_678delGAG c.(676-678)del p.E226del NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 226 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCTGGCCGGctcctcctcctcc 0.586 12 607 --- --- --- --- RPL32 6161 broad.mit.edu 37 3 12880930 12880930 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:12880930delT ENST00000429711.2 - 3 295 c.196delA c.(196-198)cafs p.T66fs RPL32_ENST00000273223.6_Frame_Shift_Del_p.T84fs|RPL32_ENST00000435983.1_Frame_Shift_Del_p.T66fs|RPL32_ENST00000396957.1_Frame_Shift_Del_p.T66fs|RPL32_ENST00000396953.2_Frame_Shift_Del_p.T66fs NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 66 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 ATGTGCTTTGTTTTTTTGTTG 0.512 7 1789 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 9 700 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 8 279 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 8 1426 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 8 340 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 9 2017 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 7 164 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 9 623 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 8 390 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183493803 183493805 + In_Frame_Del DEL AGG AGG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:183493803_183493805delAGG ENST00000305135.5 + 18 2664_2666 c.2469_2471delAGG c.(2467-2472)aca>ac p.TG823del NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 823 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) gcggcagcacaggaggaggagga 0.601 7 320 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 772 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 8 69 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 22 623 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 12 518 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 8 452 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 14 374 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 11 404 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 437 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:83785565delT ENST00000432794.1 - 11 1547 c.1384delA c.(1384-1386)ttfs p.I462fs SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs 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) GAAGCATCAATTTTTTTTTGG 0.353 13 352 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 121 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.S120A(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGAGGAGGACGAGGAGGAGGAGG 0.606 9 519 --- --- --- --- ZNF330 27309 broad.mit.edu 37 4 142143531 142143532 + Frame_Shift_Ins INS - - A rs148880005 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr4:142143531_142143532insA ENST00000262990.4 + 2 234_235 c.6_7insA c.(4-9)ccaaaafs p.PK2fs ZNF330_ENST00000421169.2_5'UTR NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 2 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding p.K5fs*18(1) kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) GGAAAATGCCTAAAAAAAAGAC 0.356 7 203 --- --- --- --- TAS2R1 50834 broad.mit.edu 37 5 9629276 9629276 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr5:9629276delT ENST00000382492.2 - 1 1187 c.869delA c.(868-870)agfs p.K290fs CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 290 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GAGGAGGAACTTTTTTGCATT 0.393 19 439 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 16 96 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31597338 31597340 + In_Frame_Del DEL AGC AGC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:31597338_31597340delAGC ENST00000376033.2 + 14 2204_2206 c.1970_1972delAGC c.(1969-1974)aag>a p.KQ657del PRRC2A_ENST00000376007.4_In_Frame_Del_p.KQ657del NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 657 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CAGCTCCTGAagcagcagcagca 0.567 8 2431 --- --- --- --- CFB 629 broad.mit.edu 37 6 31895549 31895549 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:31895549delT ENST00000456570.1 + 1 75 c.20delT c.(19-21)ctfs p.L7fs C2_ENST00000442278.2_Frame_Shift_Del_p.L7fs|CFB_ENST00000477310.1_Frame_Shift_Del_p.L7fs|C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Frame_Shift_Del_p.L7fs|C2_ENST00000299367.5_Frame_Shift_Del_p.L7fs|C2_ENST00000418949.2_Frame_Shift_Del_p.L7fs|C2_ENST00000452323.2_Intron P00751 CFAB_HUMAN complement factor B 0 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTGATGGTTCTTTTTTGCCTG 0.582 9 2929 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 8 881 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 10 896 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 7 894 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs 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 8 206 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 7 140 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 21 1163 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871470 11871481 + In_Frame_Del DEL GCAGCGGCAGCG GCAGCGGCAGCG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:11871470_11871481delGCAGCGGCAGCG ENST00000423059.3 - 1 343_354 c.92_103delCGCTGCCGCTGC c.(91-105)ctc>c p.PLPLL31del NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 31 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) agcagcaggagcagcggcagcggcagcggcag 0.774 HNSCC(18;0.044) 13 69 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 9 436 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 8 140 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 10 162 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 8 110 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 11 434 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 9 40 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 12 2096 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 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) TCTGCTCCTCCTGCTGCTGCTGG 0.650 8 1678 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del O15409 FOXP2_HUMAN forkhead box P2 191 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.Q210Q(2) 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 gcagcagcaacagcagcagcagc 0.507 9 561 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123329091 123329094 + Splice_Site DEL TCTA TCTA - rs142849943 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:123329091_123329094delTCTA ENST00000223023.4 - 10 1789 c.e10+1 NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tctctctctctctACCTGAAGAAT 0.426 10 1748 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 10 800 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140434572 140434573 + Splice_Site INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:140434572_140434573insA ENST00000288602.6 - 18 2188 c.e18-2 NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GGCGAGAATCTACaaaaaaaaa 0.356 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 631 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 11 1399 --- --- --- --- TRBV7-1 0 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 8 103 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099832 142099833 + RNA DEL CA CA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142099832_142099833delCA ENST00000390359.3 - 0 88 accactctctcacacacacaca 0.455 8 558 --- --- --- --- TRBV7-3 0 broad.mit.edu 37 7 142247473 142247474 + RNA DEL AT AT - rs150154096 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142247473_142247474delAT ENST00000390361.3 - 0 99 acacacacacatacagacacac 0.559 16 1302 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 17 399 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 28 90 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 12 63 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151856009 151856009 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr7:151856009delT ENST00000355193.2 - 44 11827 c.11609delA c.(11608-11610)agfs p.K3870fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K3870fs lysine (K)-specific methyltransferase 2C CTCTTCGTCCTTTTTCCTTTT 0.458 8 2105 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 563 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 11 472 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 8 552 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61769038 61769040 + In_Frame_Del DEL GGA GGA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:61769038_61769040delGGA ENST00000423902.2 + 34 7678_7680 c.7199_7201delGGA c.(7198-7203)cgg>c p.RR2404del CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2404 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTCGCCAGCGGAGGAGGAGGAG 0.512 7 220 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 1679 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 7 413 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 7 2024 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_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 9 850 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 8 987 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 8 406 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs 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 19 513 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 9 861 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 8 1817 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000312046.6_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 7 348 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:113241029delA ENST00000297405.5 - 70 11164 c.10920delT c.(10918-10920)ttfs p.F3640fs CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3640 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATAAGTGCAAAAAAAGGCA 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 342 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144890900 144890902 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr8:144890900_144890902delTCC ENST00000356994.2 - 15 1998_2000 c.1992_1994delGGA c.(1990-1995)gaa>ga p.EE664del SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del|SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 664 Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) actaccctcttcctcctcctcct 0.665 8 455 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971063 21971068 + In_Frame_Del DEL GGTGCA GGTGCA - rs34886500 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:21971063_21971068delGGTGCA ENST00000579755.1 - 2 625_630 c.333_338delTGCACC c.(331-339)gcg>gc p.AAP111del CDKN2A_ENST00000304494.5_In_Frame_Del_p.LHR97del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LHR46del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LHR97del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.AAP152del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LHR97del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LHR46del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.AAP111del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LHR46del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.LHR46del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LHR46del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LHR97del P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 127 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.?(44)|p.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(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) GCCCCGGCCCGGTGCAGCACCACCAG 0.748 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 71 95 --- --- --- --- TOPORS 10210 broad.mit.edu 37 9 32542262 32542262 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:32542262delT ENST00000360538.2 - 3 2377 c.2261delA c.(2260-2262)atfs p.N755fs TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 755 Arg-rich.|Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ACTGTGATTATTTTTTTTCCT 0.428 7 744 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 8 629 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 12 231 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 13 1266 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 10 86 --- --- --- --- KLF4 9314 broad.mit.edu 37 9 110249719 110249720 + Frame_Shift_Ins INS - - G TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:110249719_110249720insG ENST00000374672.4 - 3 1428_1429 c.955_956insC c.(955-957)gggfs p.G319fs NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 319 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CTCAAGACCCAGGGTCGGGGTA 0.683 32 80 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115969556 115969556 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:115969556delT ENST00000238256.3 - 3 307 c.190delA c.(190-192)cafs p.T64fs FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 64 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GCTGGTGCTGTTTTTGGTGTT 0.418 7 1730 --- --- --- --- CRAT 1384 broad.mit.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:131864814delC ENST00000318080.2 - 5 789 c.495delG c.(493-495)ggfs p.G165fs CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 165 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) ACAGTGGCTTCCCCCCCAGGT 0.607 9 2366 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137693829 137693829 + Frame_Shift_Del DEL C C - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:137693829delC ENST00000371817.3 + 38 3396 c.2982delC c.(2980-2982)ggfs p.G994fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 994 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.G997fs*17(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCTCCAGGCCCCCCCGGCG 0.657 7 641 --- --- --- --- EXD3 54932 broad.mit.edu 37 9 140267462 140267462 + Frame_Shift_Del DEL G G - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr9:140267462delG ENST00000340951.4 - 5 552 c.357delC c.(355-357)ccfs p.P119fs EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 119 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCGCAAGGCTGGGGGGGCTCT 0.647 7 555 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 15 550 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 9 449 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 9 573 --- --- --- --- DNAJC12 56521 broad.mit.edu 37 10 69565430 69565433 + Frame_Shift_Del DEL TCTT TCTT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:69565430_69565433delTCTT ENST00000225171.2 - 4 562_565 c.410_413delAAGA c.(409-414)agfs p.KE137fs DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 137 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 AGCCAGCTCCTCTTTCTTTCTTTC 0.446 7 1178 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 10 1186 --- --- --- --- AFAP1L2 84632 broad.mit.edu 37 10 116062107 116062107 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:116062107delT ENST00000369271.3 - 12 1721 c.1421delA c.(1420-1422)acfs p.N474fs AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 474 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAAGAGAGAGTTTTTGGCCGC 0.547 9 1177 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr10:123844356delC ENST00000369005.1 + 4 2681 c.2341delC c.(2341-2343)ccfs p.P782fs TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P782fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P782fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P782fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P782fs|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 782 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGTGCCACATCCCCCCCAGGG 0.642 7 557 --- --- --- --- ARL14EP 120534 broad.mit.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:30352754delA ENST00000282032.3 + 2 474 c.259delA c.(259-261)aafs p.K88fs NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GAAATTAGCCAAAAAAAATTT 0.338 8 987 --- --- --- --- GYLTL1B 120071 broad.mit.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:45948373delC ENST00000531526.1 + 10 1387 c.1276delC c.(1276-1278)ccfs p.P427fs GYLTL1B_ENST00000529052.1_Frame_Shift_Del_p.P396fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000389968.3_Frame_Shift_Del_p.P154fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Del_p.P396fs NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 427 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.R428fs*68(1) breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) TGAACCGCCACCCCCCCGGCC 0.647 8 753 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:47359101_47359103delTCT ENST00000399249.2 - 24 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 12 545 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:47599139delA ENST00000533290.1 - 1 1202 c.488delT c.(487-489)tgfs p.L163fs NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 138 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TGTGCGGGCCAAAAACCGAGA 0.517 7 1990 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 9 348 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 1424 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 8 285 --- --- --- --- FTH1 2495 broad.mit.edu 37 11 61732517 61732517 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:61732517delT ENST00000273550.7 - 3 563 c.329delA c.(328-330)atfs p.N110fs FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 110 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CTGATTCACATTTTTTTCCAA 0.423 7 1440 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62303520 62303521 + Frame_Shift_Ins INS - - C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:62303520_62303521insC ENST00000378024.4 - 3 324_325 c.50_51insG c.(49-51)gagfs p.E17fs AHNAK_ENST00000530124.1_Frame_Shift_Ins_p.E17fs|AHNAK_ENST00000257247.7_Frame_Shift_Ins_p.E17fs NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 17 PDZ. 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) GGGAGCCACTACCCTGCCAGTT 0.639 194 372 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 12 1084 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 18 1019 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 16 339 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 9 723 --- --- --- --- TAF1D 79101 broad.mit.edu 37 11 93471452 93471453 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:93471452_93471453insT ENST00000448108.2 - 3 931_932 c.281_282insA c.(280-282)aaafs p.K94fs NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TCCTCTTTTTCTTTTTTTTATA 0.347 7 1156 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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* 26 569 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 10 483 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA 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 11 827 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 1044 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 1303 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 9 911 --- --- --- --- TIMELESS 8914 broad.mit.edu 37 12 56818901 56818903 + In_Frame_Del DEL CTT CTT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:56818901_56818903delCTT ENST00000229201.4 - 14 1763_1765 c.1609_1611delAAG c.(1609-1611)del p.K537del TIMELESS_ENST00000553532.1_In_Frame_Del_p.K538del|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 538 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GGTCTAGGACcttcttcttcttc 0.488 7 489 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 1280 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 1316 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 57 1270 --- --- --- --- RNF6 6049 broad.mit.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr13:26788241delA ENST00000381588.4 - 5 2530 c.1778delT c.(1777-1779)tafs p.L594fs RNF6_ENST00000346166.3_Frame_Shift_Del_p.L594fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.L238fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Del_p.L594fs NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 594 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCATTTAGTAAAAAAAAGTG 0.403 9 820 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46543660 46543661 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr13:46543660_46543661insT ENST00000242848.4 - 14 3366_3367 c.3018_3019insA c.(3016-3021)aagtaafs p.*1007fs ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.*1007fs|ZC3H13_ENST00000378921.2_5'UTR Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1007 Lys-rich. nucleic acid binding|zinc ion binding p.R1007fs*2(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GATTTTTTACGTTTTTTTTCAA 0.371 7 555 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 13 334 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs 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 13 255 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 47 85 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 9 1318 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 19 89 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 11 791 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 8 1586 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 16 398 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron 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 13 1059 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 10 1080 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 8 1726 --- --- --- --- IGHV4-59 0 broad.mit.edu 37 14 107083457 107083458 + RNA INS - - CCACTG TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr14:107083457_107083458insCCACTG ENST00000455737.1 - 0 185_186 AGTAGTAACTACTGATGGAGCC 0.599 9 828 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 10 384 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:49309051delT ENST00000559471.1 - 10 1676 c.1413delA c.(1411-1413)aafs p.K471fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K426fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 471 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GTACCTGTAATTTTTTTTGCT 0.353 7 253 --- --- --- --- SPESP1 246777 broad.mit.edu 37 15 69238674 69238676 + In_Frame_Del DEL AGC AGC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:69238674_69238676delAGC ENST00000310673.3 + 2 955_957 c.801_803delAGC c.(799-804)cta>ct p.LA267del NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 267 Poly-Ala. multicellular organismal development acrosomal vesicle p.A268T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GCCTTGCTCTAGCAGCAGCAGCA 0.384 7 388 --- --- --- --- RP11-114H24.7 0 broad.mit.edu 37 15 78211738 78211739 + RNA INS - - C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:78211738_78211739insC ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA aaaaaaaaaaaaaaaaaCCTCC 0.505 19 82 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 153 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 8 14 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 13 116 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5320213 5320214 + RNA INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:5320213_5320214insA ENST00000569895.1 + 0 304 TGAAAGGTGGCAAAAAGGGAGT 0.366 8 69 --- --- --- --- GSPT1 2935 broad.mit.edu 37 16 12009530 12009531 + In_Frame_Ins INS - - CCG rs71408216 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:12009530_12009531insCCG ENST00000434724.2 - 1 246_247 c.47_48insCGG c.(46-48)gag>gCGGag p.15_16insA AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA|GSPT1_ENST00000420576.2_Intron NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085.2 P15170 ERF3A_HUMAN G1 to S phase transition 1 42 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 cgctgctgctcccgccgccgcc 0.772 4 8 --- --- --- --- RP11-368J21.3 0 broad.mit.edu 37 16 22579763 22579764 + RNA DEL TT TT - rs112473041 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:22579763_22579764delTT ENST00000550753.1 + 0 1976 NR_003676.2 tgtgtgtgtgtttgtttgtTTT 0.505 8 164 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27499608 27499608 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:27499608delT ENST00000356183.4 - 23 3655 c.3640delA c.(3640-3642)gcfs p.S1214fs GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.S1214fs NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1214 Arg/Lys-rich (basic). transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CGCTTCTGGCTTTTCCCACCC 0.532 7 1896 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 11 131 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 15 214 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899223 30899223 + Frame_Shift_Del DEL G G - rs150838242 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:30899223delG ENST00000215115.4 - 6 1632 c.617delC c.(616-618)cafs p.P206fs MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000380317.4_Intron|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) GCGCTTGAGTGGGGGGGCACC 0.622 7 1646 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 10 792 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 10 403 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 9 410 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 12 339 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:71220808delT ENST00000538248.1 - 2 106 c.72delA c.(70-72)aafs p.K24fs HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448691.1_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTTAGTAATTTTTTTTTCT 0.333 9 427 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 18 1392 --- --- --- --- RANGRF 29098 broad.mit.edu 37 17 8192146 8192146 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:8192146delT ENST00000439238.3 + 1 151 c.40delT c.(40-42)ttfs p.F14fs SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000580434.1_Frame_Shift_Del_p.F14fs|RANGRF_ENST00000407006.4_Frame_Shift_Del_p.F14fs|RANGRF_ENST00000226105.6_Frame_Shift_Del_p.F14fs|SLC25A35_ENST00000581320.1_Intron|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 14 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CGGGGGCGCCTTTTCCGCCAT 0.617 7 614 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 424 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 835 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 12 538 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ccg>c p.LP22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 7 83 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 37 318 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_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 12 1000 --- --- --- --- HOXB7 3217 broad.mit.edu 37 17 46685277 46685277 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:46685277delT ENST00000239165.7 - 2 679 c.581delA c.(580-582)agfs p.K194fs HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 194 K -> N (in Ref. 7; AAB19469). nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 CTTGTTCTCCTTTTTCCACTT 0.592 7 2685 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 124 872 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 7 88 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - AA TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr17:66141015_66141016insAA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 8 245 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452222 3452223 + Frame_Shift_Del DEL CT CT - rs11571510 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr18:3452222_3452223delCT ENST00000330513.5 + 1 548_549 c.245_246delCT c.(244-246)cfs p.P85fs TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551402.1_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TGCGCCCCCCCTCCTCCACCGG 0.762 9 218 --- --- --- --- ANKRD20A5P 0 broad.mit.edu 37 18 14183532 14183532 + RNA DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr18:14183532delT ENST00000581935.1 + 0 501 lung(3) 3 TTCAAAAAAATTAAGTGTTTG 0.313 7 119 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 14 365 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 16 521 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 890 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 10 1195 --- --- --- --- GADD45GIP1 90480 broad.mit.edu 37 19 13065273 13065275 + In_Frame_Del DEL GCT GCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:13065273_13065275delGCT ENST00000316939.1 - 2 439_441 c.416_418delAGC c.(415-420)cgg>c p.QR139del NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 139 Poly-Gln. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CAGTTCTCCCGCTGCTGCTGCTG 0.635 8 751 --- --- --- --- CIB3 117286 broad.mit.edu 37 19 16275653 16275654 + Frame_Shift_Ins INS - - C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:16275653_16275654insC ENST00000269878.4 - 5 466_467 c.417_418insG c.(415-420)ggtgagfs p.E140fs CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 140 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 TCGGCACTCAGCCCCCCCCGCG 0.564 22 891 --- --- --- --- B3GNT3 10331 broad.mit.edu 37 19 17918772 17918773 + Frame_Shift_Ins INS - - C TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:17918772_17918773insC ENST00000318683.6 + 2 303_304 c.156_157insC c.(154-159)ccccacfs p.H53fs B3GNT3_ENST00000595387.1_Frame_Shift_Ins_p.H53fs NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 53 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GGCCCACTCCACCCACCCGCCC 0.663 9 266 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 13 227 --- --- --- --- PLAUR 5329 broad.mit.edu 37 19 44174235 44174237 + In_Frame_Del DEL AGC AGC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:44174235_44174237delAGC ENST00000221264.4 - 1 462_464 c.36_38delGCT c.(34-39)ctc>ct p.LL12del PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 12 attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCAGGTGTGGagcagcagcagca 0.660 7 1126 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 11 220 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 7 489 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 7 204 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 11 691 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 14 1052 --- --- --- --- PPP1R12C 54776 broad.mit.edu 37 19 55607462 55607462 + Frame_Shift_Del DEL C C - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr19:55607462delC ENST00000263433.3 - 8 1125 c.1110delG c.(1108-1110)ggfs p.G370fs PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 370 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGATGGGGGGCCCCCCAGCCC 0.647 9 1015 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:17581679_17581680insT ENST00000246069.6 + 2 646_647 c.300_301insT c.(298-303)atttttfs p.IF100fs DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 100 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 AAGAGTTGATGTTTTTTTTGTG 0.356 11 546 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 596 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 11 805 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39981287 39981287 + Frame_Shift_Del DEL A A - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:39981287delA ENST00000373257.3 + 10 1496 c.1405delA c.(1405-1407)aafs p.K469fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 469 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGACCTCACCAAAAACCCCGG 0.562 7 2355 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 743 --- --- --- --- IL10RB 3588 broad.mit.edu 37 21 34668489 34668489 + Splice_Site DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr21:34668489delT ENST00000290200.2 + 7 913 c.804_splice c.e7-1 p.F269_splice NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 CCCTCCACAGTTTTTGGGCCA 0.378 7 1065 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 9 1661 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 21 100 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 12 392 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 11 603 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 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 8 485 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 17 951 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 949 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 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 16 809 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 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) AATCCCAGAGCCTCCTCTCCCAA 0.596 7 2316 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 9 268 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 17 22 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110951444 110951444 + Frame_Shift_Del DEL T T - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:110951444delT ENST00000394780.3 + 4 585 c.573delT c.(571-573)gcfs p.A191fs ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Frame_Shift_Del_p.A87fs NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 191 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CTTGCCACGCTTTTTTTCCTC 0.483 7 311 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 10 1451 --- --- --- --- LAGE3 8270 broad.mit.edu 37 X 153706723 153706723 + Frame_Shift_Del DEL G G - TCGA-FB-A545-01A-11D-A26I-08 TCGA-FB-A545-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6a5fc11-2047-4c23-b325-4cd21131fdf6 01505e81-dfca-433f-80ac-458881d3d217 g.chrX:153706723delG ENST00000357360.4 - 2 557 c.216delC c.(214-216)ccfs p.P72fs LAGE3_ENST00000407062.1_Frame_Shift_Del_p.P72fs NM_006014.3 NP_006005.2 Q14657 LAGE3_HUMAN L antigen family, member 3 72 protein binding lung(2) 2 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) CCGCCTCCAAGGGGGTCGGGA 0.597 19 399 --- --- --- ---