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 ESPNP 284729 broad.mit.edu 37 1 17023403 17023403 + RNA SNP G G A rs10907267 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:17023403G>A ENST00000492551.1 - 0 1544 NR_026567.1 GGAACATCACGTTGAAAGACT 0.622000 5 71 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79365129 79365129 + RNA SNP G G A rs3819310 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:79365129G>A ENST00000444841.1 - 0 129 CAGGAGATCAGCATGAAGCAT 0.502000 9 153 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22236771 22236771 + RNA SNP C C T rs11623408 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:22236771C>T ENST00000390428.3 + 0 43 GTCTACATTTCAGGCCACATT 0.468000 22 389 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378920 204378920 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:204378920T>A ENST00000367188.4 - 1 1999 c.1620A>T c.(1618-1620)gaA>gaT p.E540D RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 540 regulation of translation p.E540D(1) breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CCCAGTCATCTTCCTCCCCAG 0.458000 14 23 0 0 1 0 0 RPS29 6235 broad.mit.edu 37 14 50053045 50053045 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:50053045T>C ENST00000396020.3 - 1 49 c.20A>G c.(19-21)tAc>tGc p.Y7C RPS29_ENST00000245458.6_Missense_Mutation_p.Y7C|RPS29_ENST00000557111.1_Intron NM_001030001.1 NP_001025172.1 P62273 RS29_HUMAN ribosomal protein S29 7 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome|zinc ion binding p.Y7C(2) endometrium(1)|kidney(1)|lung(1)|ovary(1) 4 all_epithelial(31;0.00214)|Breast(41;0.0124) GTGGCTCCAGTACAGCTGCTG 0.522000 37 137 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316410 14316410 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:14316410T>A ENST00000545643.1 - 3 528 c.e3-2 RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) TATCCAAAACTAAAGAAAAAA 0.398000 7 142 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189349247 189349247 + Translation_Start_Site SNP A A T rs28673064 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:189349247A>T ENST00000264731.3 + 0 32 TP63_ENST00000382063.4_De_novo_Start_OutOfFrame NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACACAGGTATATGTGTATATT 0.368000 HNSCC(45;0.13) 3 24 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36755101 36755101 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:36755101C>T ENST00000354618.5 + 5 1705 c.1481C>T c.(1480-1482)tCt>tTt p.S494F THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 494 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.S494F(1) breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGGAGGAGTCTTTCCCAGAG 0.507000 T USP6 aneurysmal bone cysts 62 138 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57913819 57913819 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:57913819T>C ENST00000574161.1 + 4 451 c.332T>C c.(331-333)tTg>tCg p.L111S MYZAP_ENST00000267853.5_Missense_Mutation_p.L111S|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000396180.1_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 111 intracellular signal transduction extrinsic to internal side of plasma membrane|I band p.L111S(2) endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AGAGCCACTTTGGAAAAGGTG 0.383000 83 164 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65392741 65392741 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:65392741A>T ENST00000355703.3 + 17 3558 c.3019A>T c.(3019-3021)Acc>Tcc p.T1007S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1007 integral to membrane p.T1007S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CAGCGACCCCACCGTGCTCTG 0.647000 4 9 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985847 61985847 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:61985847G>T ENST00000409186.1 - 5 4490 c.2385C>A c.(2383-2385)ttC>ttA p.F795L PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L Q8N6Y1 PCD20_HUMAN protocadherin 20 768 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F795F(1)|p.F768F(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGTCAATCCTGAAGGACTCAG 0.478000 15 310 1.67942e-08 1.86602e-08 1 1 0 INVS 27130 broad.mit.edu 37 9 103060386 103060386 + Missense_Mutation SNP T T G rs3813712 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:103060386T>G ENST00000541287.1 + 17 3451 c.2897T>G c.(2896-2898)aTa>aGa p.I966R INVS_ENST00000262456.2_Intron|INVS_ENST00000262457.2_Intron Q9Y283 INVS_HUMAN inversin 0 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) TTAGAACAGATATGGCCAGGG 0.418000 2 8 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38645403 38645403 + RNA SNP T T C rs72639552 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:38645403T>C ENST00000494540.1 + 0 96 NR_003086.1 TGGTTTTGATTACCGGGGCTA 0.617000 3 30 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409843 56409843 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:56409843C>T ENST00000544374.1 - 1 104 c.76G>A c.(76-78)Gac>Aac p.D26N OR5AP2_ENST00000302981.1_Missense_Mutation_p.D25N Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TCTGGATTGTCGGAAAGTCCT 0.383000 17 111 0 0 1 0 0 ERP27 121506 broad.mit.edu 37 12 15068485 15068485 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:15068485C>A ENST00000266397.2 - 6 1285 c.712G>T c.(712-714)Gca>Tca p.A238S ERP27_ENST00000540097.1_Missense_Mutation_p.A137S NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 238 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 GAAACTTCTGCTGTGGGCAGT 0.408000 17 232 1.64113e-05 1.72751e-05 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121513577 121513577 + Silent SNP C C T rs140414935 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:121513577C>T ENST00000393386.2 + 1 435 c.24C>T c.(22-24)ctC>ctT p.L8L PTPRZ1_ENST00000449182.1_Silent_p.L8L NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 8 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGCGTTTCCTCGCTTGCATTC 0.597000 5 92 0 0 1 0 0 DCP2 167227 broad.mit.edu 37 5 112327832 112327832 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:112327832C>A ENST00000389063.2 + 3 418 c.220C>A c.(220-222)Ccg>Acg p.P74T DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.P74T NM_152624.5 NP_689837.2 Q8IU60 DCP2_HUMAN decapping mRNA 2 74 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) CAGTCATTGTCCGTTTTTGCT 0.338000 13 427 0.00074312 0.000773189 1 1 0 RNASE9 390443 broad.mit.edu 37 14 21025051 21025051 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:21025051G>T ENST00000557068.1 - 4 1903 c.178C>A c.(178-180)Cct>Act p.P60T RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T|RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T|RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 60 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.P60T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TCTTTGGTAGGTGGTCTGGCG 0.358000 6 127 0.00116845 0.00120874 1 1 0 SMARCAD1 56916 broad.mit.edu 37 4 95158101 95158101 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:95158101A>T ENST00000354268.4 + 5 610 c.e5-1 SMARCAD1_ENST00000457823.2_Splice_Site Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TCGTTCTGTTAGTTGATTGAA 0.323000 9 152 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78340223 78340223 + Missense_Mutation SNP G G A rs145258663 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:78340223G>A ENST00000255189.3 - 6 926 c.898C>T c.(898-900)Ctc>Ttc p.L300F DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 300 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TCCTGTCGGAGATAATATGAT 0.448000 12 145 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7909785 7909785 + Silent SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7909785T>A ENST00000254854.4 + 4 1281 c.1131T>A c.(1129-1131)gcT>gcA p.A377A NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 377 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.A377A(1) skin(1) 1 Prostate(122;0.157) CCGGAGCAGCTGTGGCCCGCC 0.677000 10 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065013 9065013 + Missense_Mutation SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:9065013G>A ENST00000397910.4 - 3 22636 c.22433C>T c.(22432-22434)gCa>gTa p.A7478V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7480 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGGTTACTGCCGTGTTTGA 0.483000 15 494 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101339500 101339500 + Nonstop_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:101339500A>T ENST00000370114.3 - 5 2427 c.991T>A c.(991-993)Taa>Aaa p.*331K EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 0 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTTACTTTTATATTTTTCTT 0.303000 4 40 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172406 7172406 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:7172406A>T ENST00000406697.1 + 9 1148 c.520A>T c.(520-522)Aat>Tat p.N174Y C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y P09871 C1S_HUMAN complement component 1, s subcomponent 174 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCTGTTAGTTAATTGCAGTGG 0.423000 6 114 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2195926 2195926 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:2195926T>A ENST00000544865.1 - 6 2676 c.e6-2 SMG6_ENST00000263073.5_Splice_Site Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGTACCAACTAGAACAGAAA 0.428000 9 200 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35836041 35836041 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:35836041G>T ENST00000314607.6 + 7 1074 c.994G>T c.(994-996)Gtt>Ttt p.V332F ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 332 multicellular organismal development DNA binding|zinc ion binding p.V332F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTTCCTTCAGTTCCAGCCAC 0.403000 20 38 1.00905e-13 1.13518e-13 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124968161 124968161 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:124968161C>A ENST00000356219.3 - 4 547 c.392G>T c.(391-393)gGa>gTa p.G131V NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000405201.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 131 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.G131V(2) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTCTTCAGATCCCGCAGGCTG 0.647000 12 5 2.31682e-05 2.42458e-05 1 1 0 SMG7 9887 broad.mit.edu 37 1 183495729 183495729 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:183495729A>T ENST00000367537.3 + 6 594 c.e6-1 SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTTTTCTTTTAGTTATTACAA 0.333000 6 77 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78196561 78196561 + Missense_Mutation SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:78196561C>G ENST00000361193.3 + 4 622 c.342C>G c.(340-342)ttC>ttG p.F114L SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 114 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity p.F114L(1) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGTCTCCTTCTACACCTTCC 0.607000 176 156 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58520806 58520806 + Silent SNP A A G rs140431503 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:58520806A>G ENST00000302819.5 - 2 319 c.28T>C c.(28-30)Ttg>Ctg p.L10L ACOX2_ENST00000459701.2_Silent_p.L10L NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 10 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GTATCCCCCAATGACACTCGG 0.567000 51 520 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85447027 85447027 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:85447027G>T ENST00000369663.5 - 8 1537 c.1200C>A c.(1198-1200)ttC>ttA p.F400L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 400 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.F400L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCCCCAGATGGAAGGCAGGAG 0.582000 10 96 1.76689e-08 1.95117e-08 1 1 0 PSG6 5675 broad.mit.edu 37 19 43414833 43414833 + Missense_Mutation SNP T T C rs147725300 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:43414833T>C ENST00000187910.2 - 3 670 c.605A>G c.(604-606)tAt>tGt p.Y202C PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C|PSG6_ENST00000292125.2_Missense_Mutation_p.Y202C NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ACCAAATAGATAGAGGGTCCT 0.507000 35 436 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164766 15164766 + Nonsense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:15164766G>T ENST00000427043.3 + 4 708 c.400G>T c.(400-402)Gga>Tga p.G134* CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134* NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 134 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.G134*(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GGCCTGTCGAGGAGGTGGGGA 0.522000 64 141 2.94687e-45 3.53625e-45 1 1 0 SLC1A4 6509 broad.mit.edu 37 2 65237735 65237735 + Missense_Mutation SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:65237735C>G ENST00000234256.3 + 4 881 c.638C>G c.(637-639)cCc>cGc p.P213R SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 213 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CTGCAGATCCCCATAGGCACT 0.448000 19 267 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30918079 30918079 + Missense_Mutation SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:30918079G>A ENST00000375712.3 + 8 2271 c.2104G>A c.(2104-2106)Gca>Aca p.A702T KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 702 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding p.A702T(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACAGGTGGATGCATCATCATT 0.493000 70 68 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114448936 114448936 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:114448936C>A ENST00000297405.5 - 1 392 c.148G>T c.(148-150)Gtc>Ttc p.V50F CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 50 integral to membrane|plasma membrane p.V50F(1)|p.V50L(1) 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 AATAAAAAGACGAGGTTCCAA 0.507000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 110 98 3.25107e-29 3.84995e-29 1 1 0 ZNF876P 642280 broad.mit.edu 37 4 206531 206531 + RNA SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:206531C>G ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 8 28 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072236 17072236 + Missense_Mutation SNP A A G rs138335730 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:17072236A>G ENST00000359963.3 - 1 1464 c.1205T>C c.(1204-1206)cTa>cCa p.L402P NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 402 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATCTTGACATAGCTGGAAATA 0.567000 4 63 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102466737 102466737 + Splice_Site SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:102466737G>A ENST00000360184.4 + 18 4238 c.e18+1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.?(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCTCGAAAGGTATATCATGA 0.403000 21 38 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775512 234775512 + RNA SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:234775512G>T ENST00000438684.1 - 0 602 NR_024322.1 CTTGTTCATAGGGATAGAGTA 0.388000 5 50 0.217242 0.219683 1 1 0 ZMYM4 9202 broad.mit.edu 37 1 35836039 35836039 + Nonsense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:35836039C>A ENST00000314607.6 + 7 1072 c.992C>A c.(991-993)tCa>tAa p.S331* ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 331 multicellular organismal development DNA binding|zinc ion binding p.S331*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGCTTCCTTCAGTTCCAGCC 0.398000 20 38 8.00594e-06 8.62916e-06 1 1 0 KRT4 3851 broad.mit.edu 37 12 53207418 53207418 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53207418T>C ENST00000293774.4 - 1 917 c.647A>G c.(646-648)aAg>aGg p.K216R KRT4_ENST00000458244.2_Missense_Mutation_p.K122R|KRT4_ENST00000551956.1_Missense_Mutation_p.K142R B4DRS2 B4DRS2_HUMAN keratin 4 142 keratin filament structural molecule activity p.K216R(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GTTGAGGAGCTTGATCTGTTC 0.562000 147 290 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3037187 3037187 + Silent SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:3037187G>T ENST00000398052.4 + 13 1687 c.1344G>T c.(1342-1344)gtG>gtT p.V448V GRK4_ENST00000345167.6_Silent_p.V416V|GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000509545.1_Intron NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 448 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCACCCCGTGTTCAAGGACA 0.587000 99 454 1.54984e-59 1.87229e-59 1 1 0 GDI2 2665 broad.mit.edu 37 10 5838827 5838827 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:5838827T>A ENST00000380191.4 - 3 444 c.e3-2 GDI2_ENST00000380181.3_Splice_Site|GDI2_ENST00000380132.4_Splice_Site NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TTTGTATAACTAAAAGCAAGG 0.308000 4 33 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55625310 55625310 + Silent SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:55625310T>C ENST00000247191.2 - 14 2019 c.1803A>G c.(1801-1803)ccA>ccG p.P601P DLGAP5_ENST00000395425.2_Silent_p.P601P NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 601 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding p.P601P(1) biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CAACTTCCTTTGGTATCACAG 0.348000 16 76 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38658896 38658896 + RNA SNP A A G rs147623826 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:38658896A>G ENST00000494540.1 + 0 740 NR_003086.1 CTTTTTTGCAAATGCATTCAC 0.299000 4 78 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25261605 25261605 + Silent SNP C C T rs2228978 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:25261605C>T ENST00000216962.4 + 11 1370 c.1260C>T c.(1258-1260)ccC>ccT p.P420P NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 420 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CGCTGTTTCCCGGCGATGTGG 0.642000 7 106 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47280724 47280724 + Translation_Start_Site SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:47280724C>A ENST00000467728.1 + 0 1195 NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000529540.1_Intron Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 CTGGGTCCTTCCTGCAGGACA 0.517000 14 265 2.23348e-06 2.43653e-06 1 1 0 TBATA 219793 broad.mit.edu 37 10 72532300 72532300 + Missense_Mutation SNP T T C rs143899859 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:72532300T>C ENST00000299290.1 - 10 1329 c.940A>G c.(940-942)Ata>Gta p.I314V NM_152710.2 NP_689923.2 thymus, brain and testes associated AAAGGTGATATCTTCGTTTTC 0.512000 25 365 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532807 92532807 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:92532807G>T ENST00000298047.6 + 9 6645 c.6628G>T c.(6628-6630)Gcc>Tcc p.A2210S FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2210 Cadherin 20. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAGCATCAATGCCACCAGTCC 0.413000 TCGA Ovarian(4;0.039) 7 111 1.12685e-05 1.19314e-05 1 1 0 KRT76 51350 broad.mit.edu 37 12 53162498 53162498 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53162498C>T ENST00000332411.2 - 9 1969 c.1916G>A c.(1915-1917)tGa>tAa p.*639* NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 0 cytoskeleton organization keratin filament structural molecule activity p.*639*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACAGTAGATCACTTGGTGGA 0.517000 50 261 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78697880 78697880 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:78697880T>A ENST00000334082.6 - 6 1970 c.e6-2 HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) ATTGCTGAACTAAAATAAAAC 0.408000 3 22 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133219900 133219900 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:133219900G>C ENST00000320574.5 - 35 4504 c.4461C>G c.(4459-4461)atC>atG p.I1487M POLE_ENST00000535270.1_Missense_Mutation_p.I1460M NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1487 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding p.I1487M(2) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGTACAGGTAGATATGGCGGA 0.592000 DNA polymerases (catalytic subunits) 71 59 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9613721 9613721 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:9613721C>T ENST00000302692.6 + 2 304 c.94C>T c.(94-96)Cta>Tta p.L32L NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 32 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CACTTGTCCACTAGAAGTCAT 0.458000 87 583 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160273 132160273 + Missense_Mutation SNP G G A rs145695346 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:132160273G>A ENST00000511190.1 - 6 2445 c.1976C>T c.(1975-1977)aCg>aTg p.T659M USP26_ENST00000370832.1_Missense_Mutation_p.T659M|USP26_ENST00000406273.1_Missense_Mutation_p.T659M NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 659 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TTCCAGATACGTCATTAAGTG 0.418000 6 127 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64827305 64827305 + Nonsense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:64827305C>T ENST00000332707.5 + 19 2903 c.2374C>T c.(2374-2376)Cag>Tag p.Q792* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 792 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.Q792*(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TTTAGAGAAGCAGATGTTGCG 0.468000 25 387 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079565 38079565 + Splice_Site SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:38079565C>A ENST00000356545.2 - 7 1224 c.e7-1 RSPO1_ENST00000401069.1_Splice_Site|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401068.1_Splice_Site NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCACATTGCGCTGGCAGGAAG 0.607000 7 62 0.307466 0.309184 1 1 0 RAET1G 353091 broad.mit.edu 37 6 150240312 150240312 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:150240312T>A ENST00000367360.2 - 3 565 c.498A>T c.(496-498)agA>agT p.R166S RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 166 MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding p.R166S(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTTTCATCTTTCTGGCTCCAG 0.473000 85 280 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51935825 51935825 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:51935825G>T ENST00000371117.3 - 9 921 c.646C>A c.(646-648)Cat>Aat p.H216N PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 216 IPT/TIG 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.H216N(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTTCCACATGGCACTGCAGA 0.413000 36 166 4.07013e-28 4.78839e-28 1 1 0 SH3RF1 57630 broad.mit.edu 37 4 170077770 170077770 + Missense_Mutation SNP C C G rs144629121 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:170077770C>G ENST00000284637.9 - 3 795 c.454G>C c.(454-456)Gac>Cac p.D152H SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 152 SH3 1. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) AATTTAAGGTCTCCAGGCTCT 0.373000 12 96 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49340732 49340732 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:49340732A>G ENST00000225298.7 + 2 497 c.440A>G c.(439-441)gAt>gGt p.D147G NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 147 rRNA processing nucleolus p.D147G(1) breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GATGAAGAAGATGAAGATGAG 0.358000 38 154 0 0 1 0 0 RAB28 9364 broad.mit.edu 37 4 13378197 13378197 + Nonsense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:13378197A>T ENST00000288723.4 - 6 759 c.545T>A c.(544-546)tTa>tAa p.L182* RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182*|RAB28_ENST00000330852.5_Nonsense_Mutation_p.L182* NM_004249.3 NP_004240.2 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 182 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 TGCTTTGTTTAATTTGATCCC 0.303000 4 56 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100887766 100887766 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:100887766G>T ENST00000358544.2 + 62 12052 c.11941G>T c.(11941-11943)Gtg>Ttg p.V3981L VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3981 protein transport p.V3981L(1)|p.V3956L(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATGCCCTGTGGTGGCTGCAGA 0.468000 11 214 4.93089e-13 5.5128e-13 1 1 0 DPYD 1806 broad.mit.edu 37 1 98165090 98165090 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:98165090A>T ENST00000370192.3 - 6 597 c.497T>A c.(496-498)aTg>aAg p.M166K DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 166 M -> V (in dbSNP:rs2297595). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGGGATACTCATTGCTTTGAA 0.388000 8 101 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793714 17793714 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:17793714T>C ENST00000379472.3 + 2 1103 c.1073T>C c.(1072-1074)aTc>aCc p.I358T KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 358 voltage-gated potassium channel complex voltage-gated potassium channel activity p.I358T(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGCGTGCTGATCTTCGCCACC 0.612000 26 61 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172227005 172227005 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:172227005A>T ENST00000241261.2 - 4 541 c.e4+1 TNFSF10_ENST00000420541.2_Intron NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGTTTCTCTTACTTGGAGAAG 0.358000 9 161 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37670844 37670844 + Missense_Mutation SNP T T G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:37670844T>G ENST00000422441.1 + 16 2116 c.1856T>G c.(1855-1857)cTc>cGc p.L619R ITGA9_ENST00000264741.5_Intron Q13797 ITA9_HUMAN integrin, alpha 9 0 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACCTTAAAGCTCATACTCAGC 0.547000 5 22 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152711518 152711518 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:152711518A>T ENST00000367255.5 - 53 8675 c.8074T>A c.(8074-8076)Ttg>Atg p.L2692M SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2692 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.L2692M(2)|p.L2699M(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTACTTCTCAAGGCCTGTTCC 0.473000 HNSCC(10;0.0054) 11 123 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31549617 31549617 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31549617G>T ENST00000429299.2 - 2 189 c.182C>A c.(181-183)cCc>cAc p.P61H LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 61 DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CTGTGCCCCGGGGTCGGCCGT 0.627000 12 84 8.60227e-14 9.73842e-14 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170912627 170912627 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:170912627C>A ENST00000361618.3 - 3 1439 c.1132G>T c.(1132-1134)Gta>Tta p.V378L RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 378 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TTATCTGGTACCTCAACAGGT 0.502000 38 497 2.40579e-17 2.75823e-17 1 1 0 LRP2 4036 broad.mit.edu 37 2 170134463 170134463 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:170134463T>A ENST00000263816.3 - 13 1851 c.e13-2 LRP2_ENST00000443831.1_Intron NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATAAATAACTACAAAAGAAA 0.363000 4 34 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71682850 71682850 + Silent SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:71682850A>G ENST00000393524.2 - 17 4447 c.3714T>C c.(3712-3714)ccT>ccC p.P1238P PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1305 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity p.P1305P(1) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CATGGGGCTCAGGCTCGAGCC 0.582000 54 91 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44856401 44856401 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:44856401A>T ENST00000326047.4 + 20 2532 c.e20-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTTGTTTTTTAGTTTTGAAAA 0.358000 6 78 0 0 1 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106793620 106793620 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:106793620A>T ENST00000265717.4 + 8 1102 c.e8-1 NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 CTTTCTTTGTAGTTTTCTGAA 0.333000 4 44 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772058 109772058 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:109772058A>G ENST00000369923.4 + 4 322 c.311A>G c.(310-312)aAa>aGa p.K104R SARS_ENST00000234677.2_Missense_Mutation_p.K104R P49591 SYSC_HUMAN seryl-tRNA synthetase 104 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity p.K104R(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TCACAAATCAAAAAAGTCCGA 0.502000 78 639 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55223621 55223621 + Missense_Mutation SNP G G A rs139429793 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:55223621G>A ENST00000275493.2 + 8 1165 c.988G>A c.(988-990)Gaa>Aaa p.E330K EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 330 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAAGAAGTGCGAAGGGCCTTG 0.597000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 22 21 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197168567 197168567 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:197168567T>C ENST00000367405.4 - 1 1105 c.1037A>G c.(1036-1038)gAg>gGg p.E346G ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E346G(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGTTAACCCCTCATGAACATT 0.373000 48 154 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47738989 47738989 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:47738989C>T ENST00000263773.5 - 17 3051 c.3039G>A c.(3037-3039)atG>atA p.M1013I NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 1013 p.M1013I(1)|p.M1013_A1014>IS(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TGTTTGGAGCCATTTTCCTTC 0.333000 10 124 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14200007 14200007 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:14200007T>A ENST00000285021.7 - 9 1590 c.1376A>T c.(1375-1377)gAt>gTt p.D459V XPC_ENST00000449060.2_Missense_Mutation_p.D422V NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 459 Asp/Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.D459V(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGTTCGGAATCCTCATCAGA 0.577000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 30 0 0 1 0 0 CGA 1081 broad.mit.edu 37 6 87795978 87795978 + Nonsense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:87795978G>T ENST00000369582.2 - 3 363 c.263C>A c.(262-264)tCa>tAa p.S88* NM_000735.3 NP_000726.1 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 88 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) CCTGTTATATGATTTAGCTAC 0.453000 8 169 1.12685e-05 1.19314e-05 1 1 0 DST 667 broad.mit.edu 37 6 56373370 56373370 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:56373370C>A ENST00000370754.5 - 75 19102 c.19103G>T c.(19102-19104)gGa>gTa p.G6368V DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V|DST_ENST00000361203.3_Missense_Mutation_p.G6079V Q03001 DYST_HUMAN dystonin 6188 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGATCAATTCCAGGATCTTC 0.378000 12 243 9.31168e-06 9.9768e-06 1 1 0 YTHDC2 64848 broad.mit.edu 37 5 112884236 112884236 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:112884236A>T ENST00000161863.4 + 11 1708 c.e11-1 YTHDC2_ENST00000515883.1_Splice_Site NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCCTTTTTTTAGTTGATTACA 0.348000 4 28 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155300229 155300229 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:155300229G>T ENST00000368352.5 + 10 2727 c.2576G>T c.(2575-2577)aGa>aTa p.R859I RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 859 SH3. cytoplasm|nucleolus SH3/SH2 adaptor activity p.R449I(1)|p.R390I(1)|p.R753I(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) ACTGCTGCAAGACCTGACCAG 0.642000 34 514 3.09479e-21 3.57091e-21 1 1 0 GFOD2 81577 broad.mit.edu 37 16 67709603 67709603 + Missense_Mutation SNP C C T rs147012796 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:67709603C>T ENST00000268797.7 - 3 958 c.613G>A c.(613-615)Gtg>Atg p.V205M GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 205 proteinaceous extracellular matrix binding|oxidoreductase activity p.V205M(1) breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TTCTGCCTCACGAATGTCTTG 0.612000 5 78 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369428 56369428 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:56369428G>A ENST00000301295.6 + 3 1091 c.669G>A c.(667-669)ccG>ccA p.P223P NLRP4_ENST00000346986.5_Silent_p.P223P|NLRP4_ENST00000587891.1_Silent_p.P148P NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 223 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGTCTCAACCGGAGAGACTCT 0.557000 22 76 0 0 1 0 0 CHRNE 1145 broad.mit.edu 37 17 4804298 4804298 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:4804298G>A ENST00000293780.4 - 7 799 c.789C>T c.(787-789)ttC>ttT p.F263F C17orf107_ENST00000381365.3_3'UTR NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 263 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.F263F(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 GCGCCGGCAGGAAGTAGGCGA 0.657000 9 39 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172402 7172402 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:7172402A>T ENST00000406697.1 + 9 1145 c.e9-1 C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site P09871 C1S_HUMAN complement component 1, s subcomponent complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTTCTCTGTTAGTTAATTGCA 0.418000 8 107 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450450 55450450 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:55450450C>A ENST00000446217.1 - 6 2223 c.1821G>T c.(1819-1821)caG>caT p.Q607H NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000590030.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 579 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTCCTCCTCCTGAGACTCAT 0.493000 75 503 2.35497e-27 2.75256e-27 1 1 0 ATG2B 55102 broad.mit.edu 37 14 96756058 96756058 + Missense_Mutation SNP G G C rs144991946 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:96756058G>C ENST00000359933.4 - 41 6834 c.5941C>G c.(5941-5943)Cgg>Ggg p.R1981G NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1981 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGGGCTAACCGGTGATGAGGA 0.502000 29 346 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17029462 17029462 + RNA SNP A A G rs11260891 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:17029462A>G ENST00000492551.1 - 0 903 NR_026567.1 CTAGTGCTGGAAAGCCCTGGG 0.577000 7 19 0 0 1 0 0 PEX7 5191 broad.mit.edu 37 6 137167252 137167252 + Silent SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:137167252C>A ENST00000541292.1 + 5 545 c.459C>A c.(457-459)ggC>ggA p.G153G PEX7_ENST00000318471.4_Silent_p.G153G O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 153 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) CCTTTAGAGGCCATGAAAGTA 0.363000 5 97 0.00307968 0.00316767 1 1 0 SMC3 9126 broad.mit.edu 37 10 112356197 112356197 + Missense_Mutation SNP T T G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:112356197T>G ENST00000361804.4 + 19 2131 c.2005T>G c.(2005-2007)Tat>Gat p.Y669D NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 669 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity p.Y669D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGGGGTTATTATGACACAAG 0.383000 69 123 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967381 31967381 + Nonsense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:31967381A>T ENST00000357886.4 - 9 1188 c.1035T>A c.(1033-1035)taT>taA p.Y345* CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331* Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 345 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GCTTGGTTTTATAGTTGGTGG 0.473000 7 145 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105635195 105635195 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:105635195A>T ENST00000542731.1 + 5 621 c.e5-1 CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000317716.9_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Splice_Site Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CTTGTTTTTTAGTATTTCCTG 0.438000 3 16 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107042546 107042546 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:107042546T>A ENST00000409886.3 - 19 2693 c.e19-2 RGPD3_ENST00000304514.7_Splice_Site NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TAGTTGCAACTAAAAAAAAAA 0.338000 5 40 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545342 234545342 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:234545342C>T ENST00000344644.5 + 1 243 c.174C>T c.(172-174)gtC>gtT p.V58V UGT1A10_ENST00000373445.1_Silent_p.V58V|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 p.V58V(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGTTGTAGTCATGCCAGAGG 0.517000 13 256 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48523269 48523269 + Silent SNP G G A rs148068614 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:48523269G>A ENST00000422556.1 - 3 799 c.450C>T c.(448-450)ctC>ctT p.L150L SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 150 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGAGCTCTCTGAGCTTGTATG 0.502000 7 165 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42022431 42022431 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:42022431A>T ENST00000264451.6 + 4 514 c.e4-1 NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTTTTTGTTTAGTTAAAGCAG 0.348000 5 56 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10795708 10795708 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:10795708G>A ENST00000361367.2 + 22 3303 c.2877G>A c.(2875-2877)aaG>aaA p.K959K NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 959 Lys-rich.|Poly-Lys. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) agaagaaaaagaggagaagGT 0.368000 24 73 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136837 80136837 + Silent SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:80136837C>A ENST00000466387.1 + 11 1694 c.970C>A c.(970-972)Cga>Aga p.R324R CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000402739.4_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 324 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R324R(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTCCTGCACGCGAGACGACCG 0.647000 31 96 3.88204e-17 4.42257e-17 1 1 0 SLC7A10 56301 broad.mit.edu 37 19 33702235 33702235 + Splice_Site SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:33702235C>G ENST00000253188.3 - 7 1059 c.e7-1 NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity p.?(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CCCCGAAGGTCTGGGTGGGCA 0.617000 7 24 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103560981 103560981 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:103560981C>T ENST00000226578.4 - 14 2002 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K MANBA_ENST00000505239.1_Missense_Mutation_p.E578K NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 635 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CGGTAGAATTCAGTTTCTGTT 0.468000 5 63 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866017 40866017 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:40866017G>C ENST00000315616.7 + 3 1233 c.1195G>C c.(1195-1197)Ggc>Cgc p.G399R RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 399 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding p.G399R(1) kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TCCTTCTCGAGGCCGGGGCGG 0.572000 71 202 0 0 1 0 0 MRRF 92399 broad.mit.edu 37 9 125033141 125033141 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:125033141A>T ENST00000344641.3 + 2 283 c.e2-1 MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000373730.3_Splice_Site NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 TATTCTTTTTAGTGGATGTTT 0.393000 7 154 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223940635 223940635 + Missense_Mutation SNP C C T rs145466296 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:223940635C>T ENST00000295006.5 + 9 1421 c.1112C>T c.(1111-1113)gCg>gTg p.A371V CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 371 Domain III. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GGCTCCACCGCGGGAGGTTGC 0.567000 9 163 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39051932 39051932 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:39051932G>A ENST00000355481.4 + 89 12578 c.12447G>A c.(12445-12447)ccG>ccA p.P4149P RYR1_ENST00000359596.3_Silent_p.P4154P|RYR1_ENST00000360985.3_Silent_p.P4149P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4154 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.P4154P(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCATGTGCCGCATGACCCTC 0.627000 202 455 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7636022 7636022 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:7636022C>T ENST00000340080.4 + 11 2752 c.2331C>T c.(2329-2331)ggC>ggT p.G777G MIOS_ENST00000405785.1_Silent_p.G777G NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 777 p.G777G(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTTGTCCTGGCTGTCGAAAAC 0.433000 57 172 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724757 138724757 + Silent SNP C C G rs11924188 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:138724757C>G ENST00000383163.2 - 1 353 c.354G>C c.(352-354)tcG>tcC p.S118S MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 118 endometrium(3)|kidney(1)|lung(7) 11 GCCCAGCAGACGAGTCGTCCT 0.617000 14 90 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708271 36708271 + Missense_Mutation SNP A A C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:36708271A>C ENST00000264659.7 - 14 2802 c.2578T>G c.(2578-2580)Ttc>Gtc p.F860V SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 732 Pro-rich. exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding p.F860V(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GGCATTTCGAAGTCCACGCTC 0.617000 23 35 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234255451 234255451 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:234255451A>T ENST00000409110.1 + 16 1342 c.e16-1 NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) GTTTTATTTTAGTTATCAGGA 0.388000 7 44 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103132475 103132475 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:103132475T>A ENST00000428762.1 - 58 9529 c.e58-2 CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACCACAATCTAAAACAAACA 0.333000 4 30 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553696 39553696 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:39553696G>A ENST00000251645.2 - 1 148 c.96C>T c.(94-96)ccC>ccT p.P32P NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 32 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGCAGGCCCCGGGCAGGGTGC 0.637000 11 267 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103452870 103452870 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:103452870C>A ENST00000361246.2 - 6 932 c.644G>T c.(643-645)cGc>cTc p.R215L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 215 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GTCAGCCAGGCGGATATGACC 0.378000 19 288 0.667858 0.667858 1 1 0 EPB41L5 57669 broad.mit.edu 37 2 120900686 120900686 + Silent SNP T T C rs61730480 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:120900686T>C ENST00000263713.5 + 19 1921 c.1707T>C c.(1705-1707)gcT>gcC p.A569A EPB41L5_ENST00000452780.1_Silent_p.A569A|EPB41L5_ENST00000443902.2_Silent_p.A569A NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 569 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TTTTGAAGGCTCAAGTAGAAG 0.428000 15 442 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117681127 117681127 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:117681127C>T ENST00000317775.6 - 19 3622 c.2937G>A c.(2935-2937)gtG>gtA p.V979V NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.V1013V NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 979 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.V979V(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GAGCTTCGGCCACAAAGGTGA 0.517000 52 473 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48977501 48977501 + Missense_Mutation SNP G G A rs1804728 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:48977501G>A ENST00000427476.1 + 7 910 c.610G>A c.(610-612)Gtc>Atc p.V204I CYTH2_ENST00000452733.2_Missense_Mutation_p.V204I NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 204 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.V204I(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 CAATCCCAATGTCCGGGACAA 0.632000 57 139 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160062372 160062372 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:160062372C>A ENST00000368086.1 - 5 1642 c.1426G>T c.(1426-1428)Gcc>Tcc p.A476S IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 476 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGCTGGCGGCCAGCCGCAGT 0.687000 5 75 0.014758 0.0150081 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96106258 96106258 + Silent SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:96106258G>T ENST00000453304.1 - 13 2574 c.2226C>A c.(2224-2226)cgC>cgA p.R742R NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 742 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAATTGACAGGCGCAGGTTGT 0.458000 36 180 1.43246e-33 1.70757e-33 1 1 0 DPY19L1 23333 broad.mit.edu 37 7 34981390 34981390 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:34981390A>G ENST00000310974.4 - 18 1601 c.1457T>C c.(1456-1458)aTc>aCc p.I486T NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 486 integral to membrane p.I486T(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 TCTTGAGCAGATCAGTGATGC 0.343000 13 42 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554161 140554161 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:140554161C>T ENST00000231137.3 + 1 1919 c.1745C>T c.(1744-1746)cCg>cTg p.P582L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 582 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P582L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCCGAGCCGGGCTACCTG 0.697000 7 22 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183960405 183960405 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:183960405C>T ENST00000455059.1 - 9 1548 c.1094G>A c.(1093-1095)aGc>aAc p.S365N EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N|ALG3_ENST00000397676.3_Missense_Mutation_p.S405N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 405 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCAGCAGAGCTGCAGGATGT 0.572000 5 99 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31484489 31484489 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:31484489G>A ENST00000322054.5 + 5 1275 c.990G>A c.(988-990)gaG>gaA p.E330E EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 330 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.E330E(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AGAAGAAGGAGCTGGTCAACA 0.572000 203 86 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47738988 47738988 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:47738988C>A ENST00000263773.5 - 17 3052 c.3040G>T c.(3040-3042)Gct>Tct p.A1014S NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 1014 p.M1013_A1014>IS(1)|p.A1014S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GTGTTTGGAGCCATTTTCCTT 0.333000 10 121 1.58986e-06 1.74497e-06 1 1 0 ANK3 288 broad.mit.edu 37 10 61840378 61840378 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:61840378T>A ENST00000280772.1 - 36 4542 c.e36-2 ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000355288.2_Splice_Site NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTCAATCTGAAAAGGAAA 0.378000 4 56 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44751187 44751187 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:44751187A>T ENST00000260327.4 + 2 539 c.e2-1 CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) tttCTCTTTTAGTTTTACATG 0.343000 5 19 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507132 64507132 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:64507132G>C ENST00000377494.1 - 6 1594 c.672C>G c.(670-672)atC>atG p.I224M RASGRP2_ENST00000354024.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 224 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity p.I286M(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAAAGTGTGTGATGACCAGGG 0.637000 22 61 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173523955 173523955 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:173523955T>A ENST00000367714.3 - 11 1638 c.e11-2 SLC9C2_ENST00000536496.1_Splice_Site|SLC9C2_ENST00000466087.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GAGTATAAACTAAAAACAAAG 0.294000 6 121 0 0 1 0 0 C1orf141 400757 broad.mit.edu 37 1 67559027 67559027 + Silent SNP C C T rs139606703 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:67559027C>T ENST00000371007.2 - 8 973 c.864G>A c.(862-864)gcG>gcA p.A288A C1orf141_ENST00000544837.1_Silent_p.A288A|C1orf141_ENST00000371006.1_Silent_p.A288A NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 288 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TTGTGTGGCCCGCTTTAAAAG 0.323000 6 51 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33091085 33091085 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:33091085G>A ENST00000334528.9 - 15 3380 c.3381C>T c.(3379-3381)taC>taT p.Y1127Y FMN1_ENST00000561249.1_Silent_p.Y1252Y|FMN1_ENST00000559047.1_Silent_p.Y1350Y NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 1350 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCATAAACACGTAGCTGGGTG 0.403000 5 101 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63030443 63030443 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:63030443A>G ENST00000561311.1 + 29 3828 c.3598A>G c.(3598-3600)Aac>Gac p.N1200D TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D Q9Y4G6 TLN2_HUMAN talin 2 1200 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.N1200D(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTCCTTGAATAACTGCGTAAA 0.502000 237 171 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186086589 186086589 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:186086589A>T ENST00000271588.4 + 77 11912 c.e77-1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTGTTGTTTTAGTTCCACCTT 0.403000 6 70 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33836390 33836390 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:33836390A>T ENST00000548645.1 + 3 340 c.e3-1 NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TTTTCTTTTAAGTTATAGGTG 0.368000 4 31 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481848 43481848 + Missense_Mutation SNP C C A rs149944561 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:43481848C>A ENST00000532038.1 - 5 911 c.776G>T c.(775-777)gGt>gTt p.G259V ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.G459V|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 459 WW 1. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) TGGGGTGTCACCATCCTGGCT 0.607000 4 37 0.014758 0.0150081 1 1 0 ZADH2 284273 broad.mit.edu 37 18 72914297 72914297 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr18:72914297T>A ENST00000322342.3 - 2 499 c.e2-2 ZADH2_ENST00000537114.2_Splice_Site NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CCAACAAATCTAAAAGAAAAC 0.428000 7 151 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023403 17023403 + RNA SNP G G A rs10907267 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:17023403G>A ENST00000492551.1 - 0 1544 NR_026567.1 GGAACATCACGTTGAAAGACT 0.622000 5 71 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79365129 79365129 + RNA SNP G G A rs3819310 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:79365129G>A ENST00000444841.1 - 0 129 CAGGAGATCAGCATGAAGCAT 0.502000 9 153 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22236771 22236771 + RNA SNP C C T rs11623408 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:22236771C>T ENST00000390428.3 + 0 43 GTCTACATTTCAGGCCACATT 0.468000 22 389 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378920 204378920 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:204378920T>A ENST00000367188.4 - 1 1999 c.1620A>T c.(1618-1620)gaA>gaT p.E540D RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 540 regulation of translation p.E540D(1) breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CCCAGTCATCTTCCTCCCCAG 0.458000 14 23 0 0 1 0 0 RPS29 6235 broad.mit.edu 37 14 50053045 50053045 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:50053045T>C ENST00000396020.3 - 1 49 c.20A>G c.(19-21)tAc>tGc p.Y7C RPS29_ENST00000557111.1_Intron|RPS29_ENST00000245458.6_Missense_Mutation_p.Y7C NM_001030001.1 NP_001025172.1 P62273 RS29_HUMAN ribosomal protein S29 7 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome|zinc ion binding p.Y7C(2) endometrium(1)|kidney(1)|lung(1)|ovary(1) 4 all_epithelial(31;0.00214)|Breast(41;0.0124) GTGGCTCCAGTACAGCTGCTG 0.522000 37 137 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189349247 189349247 + Translation_Start_Site SNP A A T rs28673064 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:189349247A>T ENST00000264731.3 + 0 32 TP63_ENST00000382063.4_De_novo_Start_OutOfFrame NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACACAGGTATATGTGTATATT 0.368000 HNSCC(45;0.13) 3 24 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36755101 36755101 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:36755101C>T ENST00000354618.5 + 5 1705 c.1481C>T c.(1480-1482)tCt>tTt p.S494F THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 494 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.S494F(1) breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGGAGGAGTCTTTCCCAGAG 0.507000 T USP6 aneurysmal bone cysts 62 138 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57913819 57913819 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:57913819T>C ENST00000574161.1 + 4 451 c.332T>C c.(331-333)tTg>tCg p.L111S GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S|MYZAP_ENST00000267853.5_Missense_Mutation_p.L111S|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380561.2_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|GCOM1_ENST00000396180.1_Intron NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 111 intracellular signal transduction extrinsic to internal side of plasma membrane|I band p.L111S(2) endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AGAGCCACTTTGGAAAAGGTG 0.383000 83 164 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65392741 65392741 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:65392741A>T ENST00000355703.3 + 17 3558 c.3019A>T c.(3019-3021)Acc>Tcc p.T1007S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1007 integral to membrane p.T1007S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CAGCGACCCCACCGTGCTCTG 0.647000 4 9 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985847 61985847 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr13:61985847G>T ENST00000409186.1 - 5 4490 c.2385C>A c.(2383-2385)ttC>ttA p.F795L PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L Q8N6Y1 PCD20_HUMAN protocadherin 20 768 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F795F(1)|p.F768F(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGTCAATCCTGAAGGACTCAG 0.478000 15 310 1.67942e-08 1.91018e-08 1 1 0 INVS 27130 broad.mit.edu 37 9 103060386 103060386 + Missense_Mutation SNP T T G rs3813712 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr9:103060386T>G ENST00000541287.1 + 17 3451 c.2897T>G c.(2896-2898)aTa>aGa p.I966R INVS_ENST00000262457.2_Intron|INVS_ENST00000262456.2_Intron Q9Y283 INVS_HUMAN inversin 0 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) TTAGAACAGATATGGCCAGGG 0.418000 2 8 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409843 56409843 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:56409843C>T ENST00000544374.1 - 1 104 c.76G>A c.(76-78)Gac>Aac p.D26N OR5AP2_ENST00000302981.1_Missense_Mutation_p.D25N Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TCTGGATTGTCGGAAAGTCCT 0.383000 17 111 0 0 1 0 0 ERP27 121506 broad.mit.edu 37 12 15068485 15068485 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:15068485C>A ENST00000266397.2 - 6 1285 c.712G>T c.(712-714)Gca>Tca p.A238S ERP27_ENST00000540097.1_Missense_Mutation_p.A137S NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 238 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 GAAACTTCTGCTGTGGGCAGT 0.408000 17 232 1.64113e-05 1.7592e-05 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121513577 121513577 + Silent SNP C C T rs140414935 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:121513577C>T ENST00000393386.2 + 1 435 c.24C>T c.(22-24)ctC>ctT p.L8L PTPRZ1_ENST00000449182.1_Silent_p.L8L NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 8 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGCGTTTCCTCGCTTGCATTC 0.597000 5 92 0 0 1 0 0 DCP2 167227 broad.mit.edu 37 5 112327832 112327832 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:112327832C>A ENST00000389063.2 + 3 418 c.220C>A c.(220-222)Ccg>Acg p.P74T DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.P74T NM_152624.5 NP_689837.2 Q8IU60 DCP2_HUMAN decapping mRNA 2 74 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) CAGTCATTGTCCGTTTTTGCT 0.338000 13 427 0.00074312 0.000785283 1 1 0 RNASE9 390443 broad.mit.edu 37 14 21025051 21025051 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:21025051G>T ENST00000557068.1 - 4 1903 c.178C>A c.(178-180)Cct>Act p.P60T RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 60 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.P60T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TCTTTGGTAGGTGGTCTGGCG 0.358000 6 127 0.00116845 0.00122604 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78340223 78340223 + Missense_Mutation SNP G G A rs145258663 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:78340223G>A ENST00000255189.3 - 6 926 c.898C>T c.(898-900)Ctc>Ttc p.L300F DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 300 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TCCTGTCGGAGATAATATGAT 0.448000 12 145 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7909785 7909785 + Silent SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:7909785T>A ENST00000254854.4 + 4 1281 c.1131T>A c.(1129-1131)gcT>gcA p.A377A NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 377 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.A377A(1) skin(1) 1 Prostate(122;0.157) CCGGAGCAGCTGTGGCCCGCC 0.677000 10 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065013 9065013 + Missense_Mutation SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:9065013G>A ENST00000397910.4 - 3 22636 c.22433C>T c.(22432-22434)gCa>gTa p.A7478V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7480 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGGTTACTGCCGTGTTTGA 0.483000 15 494 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35836041 35836041 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:35836041G>T ENST00000314607.6 + 7 1074 c.994G>T c.(994-996)Gtt>Ttt p.V332F ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 332 multicellular organismal development DNA binding|zinc ion binding p.V332F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTTCCTTCAGTTCCAGCCAC 0.403000 20 38 1.00905e-13 1.16549e-13 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124968161 124968161 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:124968161C>A ENST00000356219.3 - 4 547 c.392G>T c.(391-393)gGa>gTa p.G131V NCOR2_ENST00000405201.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 131 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.G131V(2) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTCTTCAGATCCCGCAGGCTG 0.647000 12 5 2.31682e-05 2.46576e-05 1 1 0 SLC26A11 284129 broad.mit.edu 37 17 78196561 78196561 + Missense_Mutation SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:78196561C>G ENST00000361193.3 + 4 622 c.342C>G c.(340-342)ttC>ttG p.F114L SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 114 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity p.F114L(1) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGTCTCCTTCTACACCTTCC 0.607000 176 156 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58520806 58520806 + Silent SNP A A G rs140431503 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:58520806A>G ENST00000302819.5 - 2 319 c.28T>C c.(28-30)Ttg>Ctg p.L10L ACOX2_ENST00000459701.2_Silent_p.L10L NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 10 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GTATCCCCCAATGACACTCGG 0.567000 51 520 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85447027 85447027 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:85447027G>T ENST00000369663.5 - 8 1537 c.1200C>A c.(1198-1200)ttC>ttA p.F400L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 400 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.F400L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCCCCAGATGGAAGGCAGGAG 0.582000 10 96 1.76689e-08 1.99445e-08 1 1 0 PSG6 5675 broad.mit.edu 37 19 43414833 43414833 + Missense_Mutation SNP T T C rs147725300 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:43414833T>C ENST00000187910.2 - 3 670 c.605A>G c.(604-606)tAt>tGt p.Y202C PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C|PSG6_ENST00000292125.2_Missense_Mutation_p.Y202C NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ACCAAATAGATAGAGGGTCCT 0.507000 35 436 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65237735 65237735 + Missense_Mutation SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:65237735C>G ENST00000234256.3 + 4 881 c.638C>G c.(637-639)cCc>cGc p.P213R SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 213 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CTGCAGATCCCCATAGGCACT 0.448000 19 267 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30918079 30918079 + Missense_Mutation SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr20:30918079G>A ENST00000375712.3 + 8 2271 c.2104G>A c.(2104-2106)Gca>Aca p.A702T KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 702 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding p.A702T(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACAGGTGGATGCATCATCATT 0.493000 70 68 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114448936 114448936 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr8:114448936C>A ENST00000297405.5 - 1 392 c.148G>T c.(148-150)Gtc>Ttc p.V50F CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 50 integral to membrane|plasma membrane p.V50F(1)|p.V50L(1) 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 AATAAAAAGACGAGGTTCCAA 0.507000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 110 98 3.25107e-29 4.00339e-29 1 1 0 ZNF876P 642280 broad.mit.edu 37 4 206531 206531 + RNA SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:206531C>G ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 8 28 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102466737 102466737 + Splice_Site SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:102466737G>A ENST00000360184.4 + 18 4238 c.e18+1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.?(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCTCGAAAGGTATATCATGA 0.403000 21 38 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775512 234775512 + RNA SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:234775512G>T ENST00000438684.1 - 0 602 NR_024322.1 CTTGTTCATAGGGATAGAGTA 0.388000 5 50 0.217242 0.220198 1 1 0 ZMYM4 9202 broad.mit.edu 37 1 35836039 35836039 + Nonsense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:35836039C>A ENST00000314607.6 + 7 1072 c.992C>A c.(991-993)tCa>tAa p.S331* ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 331 multicellular organismal development DNA binding|zinc ion binding p.S331*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGCTTCCTTCAGTTCCAGCC 0.398000 20 38 8.00594e-06 8.83619e-06 1 1 0 KRT4 3851 broad.mit.edu 37 12 53207418 53207418 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:53207418T>C ENST00000551956.1 - 1 917 c.425A>G c.(424-426)aAg>aGg p.K142R KRT4_ENST00000293774.4_Missense_Mutation_p.K216R|KRT4_ENST00000458244.2_Missense_Mutation_p.K122R B4DRS2 B4DRS2_HUMAN keratin 4 142 keratin filament structural molecule activity p.K216R(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GTTGAGGAGCTTGATCTGTTC 0.562000 147 290 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3037187 3037187 + Silent SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:3037187G>T ENST00000398052.4 + 13 1687 c.1344G>T c.(1342-1344)gtG>gtT p.V448V GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000345167.6_Silent_p.V416V NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 448 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCACCCCGTGTTCAAGGACA 0.587000 99 454 1.54984e-59 1.95701e-59 1 1 0 MIOS 54468 broad.mit.edu 37 7 7636022 7636022 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:7636022C>T ENST00000340080.4 + 11 2752 c.2331C>T c.(2329-2331)ggC>ggT p.G777G MIOS_ENST00000405785.1_Silent_p.G777G NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 777 p.G777G(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTTGTCCTGGCTGTCGAAAAC 0.433000 57 172 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55625310 55625310 + Silent SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:55625310T>C ENST00000247191.2 - 14 2019 c.1803A>G c.(1801-1803)ccA>ccG p.P601P DLGAP5_ENST00000395425.2_Silent_p.P601P NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 601 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding p.P601P(1) biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CAACTTCCTTTGGTATCACAG 0.348000 16 76 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38658896 38658896 + RNA SNP A A G rs147623826 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:38658896A>G ENST00000494540.1 + 0 740 NR_003086.1 CTTTTTTGCAAATGCATTCAC 0.299000 4 78 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25261605 25261605 + Silent SNP C C T rs2228978 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr20:25261605C>T ENST00000216962.4 + 11 1370 c.1260C>T c.(1258-1260)ccC>ccT p.P420P NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 420 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CGCTGTTTCCCGGCGATGTGG 0.642000 7 106 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47280724 47280724 + Translation_Start_Site SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:47280724C>A ENST00000467728.1 + 0 1195 NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000395397.3_Intron Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 CTGGGTCCTTCCTGCAGGACA 0.517000 14 265 2.23348e-06 2.4835e-06 1 1 0 PRR23A 729627 broad.mit.edu 37 3 138724757 138724757 + Silent SNP C C G rs11924188 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:138724757C>G ENST00000383163.2 - 1 353 c.354G>C c.(352-354)tcG>tcC p.S118S MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 118 endometrium(3)|kidney(1)|lung(7) 11 GCCCAGCAGACGAGTCGTCCT 0.617000 14 90 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532807 92532807 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:92532807G>T ENST00000298047.6 + 9 6645 c.6628G>T c.(6628-6630)Gcc>Tcc p.A2210S FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2210 Cadherin 20. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAGCATCAATGCCACCAGTCC 0.413000 TCGA Ovarian(4;0.039) 7 111 1.12685e-05 1.21667e-05 1 1 0 KRT76 51350 broad.mit.edu 37 12 53162498 53162498 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:53162498C>T ENST00000332411.2 - 9 1969 c.1916G>A c.(1915-1917)tGa>tAa p.*639* NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 0 cytoskeleton organization keratin filament structural molecule activity p.*639*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACAGTAGATCACTTGGTGGA 0.517000 50 261 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78697880 78697880 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:78697880T>A ENST00000334082.6 - 6 1970 c.e6-2 HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Splice_Site NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) ATTGCTGAACTAAAATAAAAC 0.408000 3 22 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133219900 133219900 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:133219900G>C ENST00000320574.5 - 35 4504 c.4461C>G c.(4459-4461)atC>atG p.I1487M POLE_ENST00000535270.1_Missense_Mutation_p.I1460M NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1487 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding p.I1487M(2) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGTACAGGTAGATATGGCGGA 0.592000 DNA polymerases (catalytic subunits) 71 59 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9613721 9613721 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:9613721C>T ENST00000302692.6 + 2 304 c.94C>T c.(94-96)Cta>Tta p.L32L NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 32 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CACTTGTCCACTAGAAGTCAT 0.458000 87 583 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160273 132160273 + Missense_Mutation SNP G G A rs145695346 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chrX:132160273G>A ENST00000511190.1 - 6 2445 c.1976C>T c.(1975-1977)aCg>aTg p.T659M USP26_ENST00000406273.1_Missense_Mutation_p.T659M|USP26_ENST00000370832.1_Missense_Mutation_p.T659M NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 659 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TTCCAGATACGTCATTAAGTG 0.418000 6 127 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164766 15164766 + Nonsense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:15164766G>T ENST00000427043.3 + 4 708 c.400G>T c.(400-402)Gga>Tga p.G134* CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134* NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 134 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.G134*(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GGCCTGTCGAGGAGGTGGGGA 0.522000 64 141 2.94687e-45 3.68978e-45 1 1 0 RSPO1 284654 broad.mit.edu 37 1 38079565 38079565 + Splice_Site SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:38079565C>A ENST00000356545.2 - 7 1224 c.e7-1 RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401068.1_Splice_Site|RSPO1_ENST00000401069.1_Splice_Site|RSPO1_ENST00000401070.1_Intron NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCACATTGCGCTGGCAGGAAG 0.607000 7 62 0.307466 0.309543 1 1 0 RAET1G 353091 broad.mit.edu 37 6 150240312 150240312 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:150240312T>A ENST00000367360.2 - 3 565 c.498A>T c.(496-498)agA>agT p.R166S RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.1_ENST00000605899.1_RNA NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 166 MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding p.R166S(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTTTCATCTTTCTGGCTCCAG 0.473000 85 280 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51935825 51935825 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:51935825G>T ENST00000371117.3 - 9 921 c.646C>A c.(646-648)Cat>Aat p.H216N PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 216 IPT/TIG 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.H216N(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTTCCACATGGCACTGCAGA 0.413000 36 166 4.07013e-28 4.9709e-28 1 1 0 SH3RF1 57630 broad.mit.edu 37 4 170077770 170077770 + Missense_Mutation SNP C C G rs144629121 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:170077770C>G ENST00000284637.9 - 3 795 c.454G>C c.(454-456)Gac>Cac p.D152H SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 152 SH3 1. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) AATTTAAGGTCTCCAGGCTCT 0.373000 12 96 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49340732 49340732 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:49340732A>G ENST00000225298.7 + 2 497 c.440A>G c.(439-441)gAt>gGt p.D147G NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 147 rRNA processing nucleolus p.D147G(1) breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GATGAAGAAGATGAAGATGAG 0.358000 38 154 0 0 1 0 0 RAB28 9364 broad.mit.edu 37 4 13378197 13378197 + Nonsense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:13378197A>T ENST00000288723.4 - 6 759 c.545T>A c.(544-546)tTa>tAa p.L182* RAB28_ENST00000330852.5_Nonsense_Mutation_p.L182*|RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182* NM_004249.3 NP_004240.2 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 182 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 TGCTTTGTTTAATTTGATCCC 0.303000 4 56 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234255451 234255451 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:234255451A>T ENST00000409110.1 + 16 1342 c.e16-1 NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) GTTTTATTTTAGTTATCAGGA 0.388000 7 44 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98165090 98165090 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:98165090A>T ENST00000370192.3 - 6 597 c.497T>A c.(496-498)aTg>aAg p.M166K DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 166 M -> V (in dbSNP:rs2297595). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGGGATACTCATTGCTTTGAA 0.388000 8 101 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793714 17793714 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:17793714T>C ENST00000379472.3 + 2 1103 c.1073T>C c.(1072-1074)aTc>aCc p.I358T KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 358 voltage-gated potassium channel complex voltage-gated potassium channel activity p.I358T(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGCGTGCTGATCTTCGCCACC 0.612000 26 61 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37670844 37670844 + Missense_Mutation SNP T T G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:37670844T>G ENST00000422441.1 + 16 2116 c.1856T>G c.(1855-1857)cTc>cGc p.L619R ITGA9_ENST00000264741.5_Intron Q13797 ITA9_HUMAN integrin, alpha 9 0 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACCTTAAAGCTCATACTCAGC 0.547000 5 22 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152711518 152711518 + Missense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:152711518A>T ENST00000367255.5 - 53 8675 c.8074T>A c.(8074-8076)Ttg>Atg p.L2692M SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2692 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.L2692M(2)|p.L2699M(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTACTTCTCAAGGCCTGTTCC 0.473000 HNSCC(10;0.0054) 11 123 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31549617 31549617 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:31549617G>T ENST00000429299.2 - 2 189 c.182C>A c.(181-183)cCc>cAc p.P61H LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 61 DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CTGTGCCCCGGGGTCGGCCGT 0.627000 12 84 8.60227e-14 1.00136e-13 1 1 0 MFAP3L 9848 broad.mit.edu 37 4 170912627 170912627 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:170912627C>A ENST00000361618.3 - 3 1439 c.1132G>T c.(1132-1134)Gta>Tta p.V378L RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 378 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TTATCTGGTACCTCAACAGGT 0.502000 38 497 2.40579e-17 2.84494e-17 1 1 0 PRKAR2B 5577 broad.mit.edu 37 7 106793620 106793620 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:106793620A>T ENST00000265717.4 + 8 1102 c.e8-1 NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 CTTTCTTTGTAGTTTTCTGAA 0.333000 4 44 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772058 109772058 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:109772058A>G ENST00000369923.4 + 4 322 c.311A>G c.(310-312)aAa>aGa p.K104R SARS_ENST00000234677.2_Missense_Mutation_p.K104R P49591 SYSC_HUMAN seryl-tRNA synthetase 104 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity p.K104R(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TCACAAATCAAAAAAGTCCGA 0.502000 78 639 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55223621 55223621 + Missense_Mutation SNP G G A rs139429793 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:55223621G>A ENST00000275493.2 + 8 1165 c.988G>A c.(988-990)Gaa>Aaa p.E330K EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K|EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 330 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAAGAAGTGCGAAGGGCCTTG 0.597000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 22 21 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197168567 197168567 + Missense_Mutation SNP T T C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:197168567T>C ENST00000367405.4 - 1 1105 c.1037A>G c.(1036-1038)gAg>gGg p.E346G ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E346G(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGTTAACCCCTCATGAACATT 0.373000 48 154 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47738989 47738989 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:47738989C>T ENST00000263773.5 - 17 3051 c.3039G>A c.(3037-3039)atG>atA p.M1013I NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 1013 p.M1013I(1)|p.M1013_A1014>IS(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TGTTTGGAGCCATTTTCCTTC 0.333000 10 124 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14200007 14200007 + Missense_Mutation SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:14200007T>A ENST00000285021.7 - 9 1590 c.1376A>T c.(1375-1377)gAt>gTt p.D459V XPC_ENST00000449060.2_Missense_Mutation_p.D422V NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 459 Asp/Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.D459V(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGTTCGGAATCCTCATCAGA 0.577000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 30 0 0 1 0 0 CGA 1081 broad.mit.edu 37 6 87795978 87795978 + Nonsense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:87795978G>T ENST00000369582.2 - 3 363 c.263C>A c.(262-264)tCa>tAa p.S88* NM_000735.3 NP_000726.1 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 88 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) CCTGTTATATGATTTAGCTAC 0.453000 8 169 1.12685e-05 1.21667e-05 1 1 0 DST 667 broad.mit.edu 37 6 56373370 56373370 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:56373370C>A ENST00000370754.5 - 75 19102 c.19103G>T c.(19102-19104)gGa>gTa p.G6368V DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.G6079V|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V Q03001 DYST_HUMAN dystonin 6188 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGATCAATTCCAGGATCTTC 0.378000 12 243 9.31168e-06 1.02018e-05 1 1 0 YTHDC2 64848 broad.mit.edu 37 5 112884236 112884236 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:112884236A>T ENST00000161863.4 + 11 1708 c.e11-1 YTHDC2_ENST00000515883.1_Splice_Site NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCCTTTTTTTAGTTGATTACA 0.348000 4 28 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155300229 155300229 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:155300229G>T ENST00000368352.5 + 10 2727 c.2576G>T c.(2575-2577)aGa>aTa p.R859I RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 859 SH3. cytoplasm|nucleolus SH3/SH2 adaptor activity p.R449I(1)|p.R390I(1)|p.R753I(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) ACTGCTGCAAGACCTGACCAG 0.642000 34 514 3.09479e-21 3.68899e-21 1 1 0 GFOD2 81577 broad.mit.edu 37 16 67709603 67709603 + Missense_Mutation SNP C C T rs147012796 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr16:67709603C>T ENST00000268797.7 - 3 958 c.613G>A c.(613-615)Gtg>Atg p.V205M GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 205 proteinaceous extracellular matrix binding|oxidoreductase activity p.V205M(1) breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TTCTGCCTCACGAATGTCTTG 0.612000 5 78 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369428 56369428 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:56369428G>A ENST00000301295.6 + 3 1091 c.669G>A c.(667-669)ccG>ccA p.P223P NLRP4_ENST00000587891.1_Silent_p.P148P|NLRP4_ENST00000346986.5_Silent_p.P223P NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 223 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGTCTCAACCGGAGAGACTCT 0.557000 22 76 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961026 1961026 + Silent SNP C C A rs150953132 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr20:1961026C>A ENST00000217305.2 - 4 933 c.708G>T c.(706-708)gtG>gtT p.V236V RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.V236V|PDYN_ENST00000539905.1_Silent_p.V236V NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 236 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACCGAGTCACCACCTTGAACT 0.527000 11 295 0.00136819 0.0014256 1 1 0 CHRNE 1145 broad.mit.edu 37 17 4804298 4804298 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:4804298G>A ENST00000293780.4 - 7 799 c.789C>T c.(787-789)ttC>ttT p.F263F C17orf107_ENST00000381365.3_3'UTR NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 263 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.F263F(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 GCGCCGGCAGGAAGTAGGCGA 0.657000 9 39 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64827305 64827305 + Nonsense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:64827305C>T ENST00000332707.5 + 19 2903 c.2374C>T c.(2374-2376)Cag>Tag p.Q792* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 792 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.Q792*(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TTTAGAGAAGCAGATGTTGCG 0.468000 25 387 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450450 55450450 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:55450450C>A ENST00000588756.1 - 6 2223 c.1737G>T c.(1735-1737)caG>caT p.Q579H NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H|NLRP7_ENST00000590030.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q607H Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 579 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTCCTCCTCCTGAGACTCAT 0.493000 75 503 2.35497e-27 2.85277e-27 1 1 0 ATG2B 55102 broad.mit.edu 37 14 96756058 96756058 + Missense_Mutation SNP G G C rs144991946 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:96756058G>C ENST00000359933.4 - 41 6834 c.5941C>G c.(5941-5943)Cgg>Ggg p.R1981G NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1981 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGGGCTAACCGGTGATGAGGA 0.502000 29 346 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17029462 17029462 + RNA SNP A A G rs11260891 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:17029462A>G ENST00000492551.1 - 0 903 NR_026567.1 CTAGTGCTGGAAAGCCCTGGG 0.577000 7 19 0 0 1 0 0 PEX7 5191 broad.mit.edu 37 6 137167252 137167252 + Silent SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:137167252C>A ENST00000541292.1 + 5 545 c.459C>A c.(457-459)ggC>ggA p.G153G PEX7_ENST00000318471.4_Silent_p.G153G O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 153 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) CCTTTAGAGGCCATGAAAGTA 0.363000 5 97 0.00307968 0.00318661 1 1 0 SMC3 9126 broad.mit.edu 37 10 112356197 112356197 + Missense_Mutation SNP T T G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:112356197T>G ENST00000361804.4 + 19 2131 c.2005T>G c.(2005-2007)Tat>Gat p.Y669D NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 669 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity p.Y669D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGGGGTTATTATGACACAAG 0.383000 69 123 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967381 31967381 + Nonsense_Mutation SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr20:31967381A>T ENST00000357886.4 - 9 1188 c.1035T>A c.(1033-1035)taT>taA p.Y345* CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331* Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 345 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GCTTGGTTTTATAGTTGGTGG 0.473000 7 145 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105635195 105635195 + Splice_Site SNP A A T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:105635195A>T ENST00000542731.1 + 5 621 c.e5-1 CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000317716.9_Splice_Site|CDHR3_ENST00000478080.1_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CTTGTTTTTTAGTATTTCCTG 0.438000 3 16 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545342 234545342 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:234545342C>T ENST00000344644.5 + 1 243 c.174C>T c.(172-174)gtC>gtT p.V58V UGT1A10_ENST00000373445.1_Silent_p.V58V|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 p.V58V(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGTTGTAGTCATGCCAGAGG 0.517000 13 256 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48523269 48523269 + Silent SNP G G A rs148068614 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr20:48523269G>A ENST00000422556.1 - 3 799 c.450C>T c.(448-450)ctC>ctT p.L150L SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 150 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGAGCTCTCTGAGCTTGTATG 0.502000 7 165 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47738988 47738988 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:47738988C>A ENST00000263773.5 - 17 3052 c.3040G>T c.(3040-3042)Gct>Tct p.A1014S NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 1014 p.M1013_A1014>IS(1)|p.A1014S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GTGTTTGGAGCCATTTTCCTT 0.333000 10 121 1.58986e-06 1.78113e-06 1 1 0 PHLPP2 23035 broad.mit.edu 37 16 71682850 71682850 + Silent SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr16:71682850A>G ENST00000393524.2 - 17 4447 c.3714T>C c.(3712-3714)ccT>ccC p.P1238P PHLPP2_ENST00000568954.1_Silent_p.P1305P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P|PHLPP2_ENST00000540628.1_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1305 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity p.P1305P(1) central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CATGGGGCTCAGGCTCGAGCC 0.582000 54 91 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10795708 10795708 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:10795708G>A ENST00000361367.2 + 22 3303 c.2877G>A c.(2875-2877)aaG>aaA p.K959K NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 959 Lys-rich.|Poly-Lys. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) agaagaaaaagaggagaagGT 0.368000 24 73 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136837 80136837 + Silent SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:80136837C>A ENST00000466387.1 + 11 1694 c.970C>A c.(970-972)Cga>Aga p.R324R CTNNA2_ENST00000402739.4_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 324 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R324R(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTCCTGCACGCGAGACGACCG 0.647000 31 96 3.88204e-17 4.55452e-17 1 1 0 SLC7A10 56301 broad.mit.edu 37 19 33702235 33702235 + Splice_Site SNP C C G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:33702235C>G ENST00000253188.3 - 7 1059 c.e7-1 NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity p.?(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CCCCGAAGGTCTGGGTGGGCA 0.617000 7 24 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 6 5 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103560981 103560981 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:103560981C>T ENST00000226578.4 - 14 2002 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K MANBA_ENST00000505239.1_Missense_Mutation_p.E578K NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 635 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CGGTAGAATTCAGTTTCTGTT 0.468000 5 63 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866017 40866017 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:40866017G>C ENST00000315616.7 + 3 1233 c.1195G>C c.(1195-1197)Ggc>Cgc p.G399R RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 399 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding p.G399R(1) kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TCCTTCTCGAGGCCGGGGCGG 0.572000 71 202 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223940635 223940635 + Missense_Mutation SNP C C T rs145466296 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:223940635C>T ENST00000295006.5 + 9 1421 c.1112C>T c.(1111-1113)gCg>gTg p.A371V CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 371 Domain III. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GGCTCCACCGCGGGAGGTTGC 0.567000 9 163 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39051932 39051932 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:39051932G>A ENST00000355481.4 + 89 12578 c.12447G>A c.(12445-12447)ccG>ccA p.P4149P RYR1_ENST00000359596.3_Silent_p.P4154P|RYR1_ENST00000360985.3_Silent_p.P4149P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4154 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.P4154P(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCATGTGCCGCATGACCCTC 0.627000 202 455 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5838827 5838827 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:5838827T>A ENST00000380191.4 - 3 444 c.e3-2 GDI2_ENST00000380132.4_Splice_Site|GDI2_ENST00000380181.3_Splice_Site NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TTTGTATAACTAAAAGCAAGG 0.308000 4 33 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72532300 72532300 + Missense_Mutation SNP T T C rs143899859 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:72532300T>C ENST00000299290.1 - 10 1329 c.940A>G c.(940-942)Ata>Gta p.I314V NM_152710.2 NP_689923.2 thymus, brain and testes associated AAAGGTGATATCTTCGTTTTC 0.512000 25 365 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708271 36708271 + Missense_Mutation SNP A A C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:36708271A>C ENST00000264659.7 - 14 2802 c.2578T>G c.(2578-2580)Ttc>Gtc p.F860V SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 732 Pro-rich. exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding p.F860V(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GGCATTTCGAAGTCCACGCTC 0.617000 23 35 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100887766 100887766 + Missense_Mutation SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr8:100887766G>T ENST00000358544.2 + 62 12052 c.11941G>T c.(11941-11943)Gtg>Ttg p.V3981L VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3981 protein transport p.V3981L(1)|p.V3956L(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATGCCCTGTGGTGGCTGCAGA 0.468000 11 214 4.93089e-13 5.65156e-13 1 1 0 RELN 5649 broad.mit.edu 37 7 103132475 103132475 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:103132475T>A ENST00000424685.2 - 58 9529 c.e58-2 CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Splice_Site|RELN_ENST00000343529.5_Splice_Site P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACCACAATCTAAAACAAACA 0.333000 4 30 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553696 39553696 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:39553696G>A ENST00000251645.2 - 1 148 c.96C>T c.(94-96)ccC>ccT p.P32P NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 32 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGCAGGCCCCGGGCAGGGTGC 0.637000 11 267 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120900686 120900686 + Silent SNP T T C rs61730480 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:120900686T>C ENST00000263713.5 + 19 1921 c.1707T>C c.(1705-1707)gcT>gcC p.A569A EPB41L5_ENST00000443902.2_Silent_p.A569A|EPB41L5_ENST00000452780.1_Silent_p.A569A NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 569 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TTTTGAAGGCTCAAGTAGAAG 0.428000 15 442 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117681127 117681127 + Silent SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:117681127C>T ENST00000317775.6 - 19 3622 c.2937G>A c.(2935-2937)gtG>gtA p.V979V NOS1_ENST00000338101.4_Silent_p.V1013V|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 979 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.V979V(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GAGCTTCGGCCACAAAGGTGA 0.517000 52 473 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48977501 48977501 + Missense_Mutation SNP G G A rs1804728 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:48977501G>A ENST00000427476.1 + 7 910 c.610G>A c.(610-612)Gtc>Atc p.V204I CYTH2_ENST00000452733.2_Missense_Mutation_p.V204I NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 204 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.V204I(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 CAATCCCAATGTCCGGGACAA 0.632000 57 139 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160062372 160062372 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:160062372C>A ENST00000368086.1 - 5 1642 c.1426G>T c.(1426-1428)Gcc>Tcc p.A476S IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 476 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGCTGGCGGCCAGCCGCAGT 0.687000 5 75 0.014758 0.0150612 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96106258 96106258 + Silent SNP G G T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:96106258G>T ENST00000453304.1 - 13 2574 c.2226C>A c.(2224-2226)cgC>cgA p.R742R NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 742 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAATTGACAGGCGCAGGTTGT 0.458000 36 180 1.43246e-33 1.77864e-33 1 1 0 DPY19L1 23333 broad.mit.edu 37 7 34981390 34981390 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:34981390A>G ENST00000310974.4 - 18 1601 c.1457T>C c.(1456-1458)aTc>aCc p.I486T NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 486 integral to membrane p.I486T(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 TCTTGAGCAGATCAGTGATGC 0.343000 13 42 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554161 140554161 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:140554161C>T ENST00000231137.3 + 1 1919 c.1745C>T c.(1744-1746)cCg>cTg p.P582L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 582 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P582L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCCGAGCCGGGCTACCTG 0.697000 7 22 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183960405 183960405 + Missense_Mutation SNP C C T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:183960405C>T ENST00000455059.1 - 9 1548 c.1094G>A c.(1093-1095)aGc>aAc p.S365N ALG3_ENST00000397676.3_Missense_Mutation_p.S405N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 405 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCAGCAGAGCTGCAGGATGT 0.572000 5 99 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31484489 31484489 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:31484489G>A ENST00000322054.5 + 5 1275 c.990G>A c.(988-990)gaG>gaA p.E330E EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 330 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.E330E(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AGAAGAAGGAGCTGGTCAACA 0.572000 203 86 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61840378 61840378 + Splice_Site SNP T T A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:61840378T>A ENST00000280772.1 - 36 4542 c.e36-2 ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000503366.1_Splice_Site NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTCAATCTGAAAAGGAAA 0.378000 4 56 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507132 64507132 + Missense_Mutation SNP G G C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:64507132G>C ENST00000377494.1 - 6 1594 c.672C>G c.(670-672)atC>atG p.I224M RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000354024.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 224 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity p.I286M(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAAAGTGTGTGATGACCAGGG 0.637000 22 61 0 0 1 0 0 C1orf141 400757 broad.mit.edu 37 1 67559027 67559027 + Silent SNP C C T rs139606703 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:67559027C>T ENST00000371007.2 - 8 973 c.864G>A c.(862-864)gcG>gcA p.A288A C1orf141_ENST00000544837.1_Silent_p.A288A|C1orf141_ENST00000371006.1_Silent_p.A288A NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 288 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TTGTGTGGCCCGCTTTAAAAG 0.323000 6 51 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33091085 33091085 + Silent SNP G G A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:33091085G>A ENST00000334528.9 - 15 3380 c.3381C>T c.(3379-3381)taC>taT p.Y1127Y FMN1_ENST00000559047.1_Silent_p.Y1350Y|FMN1_ENST00000561249.1_Silent_p.Y1252Y NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 1350 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCATAAACACGTAGCTGGGTG 0.403000 5 101 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63030443 63030443 + Missense_Mutation SNP A A G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:63030443A>G ENST00000561311.1 + 29 3828 c.3598A>G c.(3598-3600)Aac>Gac p.N1200D TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D Q9Y4G6 TLN2_HUMAN talin 2 1200 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.N1200D(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTCCTTGAATAACTGCGTAAA 0.502000 237 171 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103452870 103452870 + Missense_Mutation SNP C C A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:103452870C>A ENST00000361246.2 - 6 932 c.644G>T c.(643-645)cGc>cTc p.R215L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 215 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GTCAGCCAGGCGGATATGACC 0.378000 19 288 0.667858 0.667858 1 1 0 ARHGAP27 201176 broad.mit.edu 37 17 43481848 43481848 + Missense_Mutation SNP C C A rs149944561 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:43481848C>A ENST00000532038.1 - 5 911 c.776G>T c.(775-777)gGt>gTt p.G259V ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.G459V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 459 WW 1. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) TGGGGTGTCACCATCCTGGCT 0.607000 4 37 0.014758 0.0150612 1 1 0 SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 11 616 --- --- --- --- KIAA2013 90231 broad.mit.edu 37 1 11983199 11983200 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:11983199_11983200insC ENST00000376572.3 - 2 1565_1566 c.1380_1381insG c.(1378-1383)ggtgcafs p.A461fs KIAA2013_ENST00000376576.3_Frame_Shift_Ins_p.A461fs NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 461 integral to membrane p.G460G(1) endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGAACTGCAGCCCCCCAAAGC 0.604 7 501 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 11 481 --- --- --- --- PADI3 51702 broad.mit.edu 37 1 17603074 17603075 + Frame_Shift_Ins INS - - C rs148039282 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:17603074_17603075insC ENST00000375460.3 + 12 1408_1409 c.1368_1369insC c.(1366-1371)caccccfs p.HP456fs NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 456 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGAAGGTGCAGCCCCCCGTGGA 0.564 8 587 --- --- --- --- IGSF21 84966 broad.mit.edu 37 1 18554419 18554420 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:18554419_18554420insC ENST00000251296.1 + 2 481_482 c.98_99insC c.(97-99)cccfs p.P33fs NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 33 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ATTGAGCCTCTCCCCCCTGTGG 0.574 8 541 --- --- --- --- EPHB2 2048 broad.mit.edu 37 1 23222908 23222909 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:23222908_23222909insG ENST00000374632.3 + 9 1718_1719 c.1705_1706insG c.(1705-1707)gggfs p.G569fs EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Splice_Site_p.G563_splice|EPHB2_ENST00000400191.3_Splice_Site_p.G568_splice|EPHB2_ENST00000374630.3_Splice_Site_p.G568_splice P29323 EPHB2_HUMAN EPH receptor B2 568 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.R568W(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TTCCAGAAGACGGGGGTTTGAG 0.614 7 659 --- --- --- --- LUZP1 7798 broad.mit.edu 37 1 23417944 23417945 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:23417944_23417945insG ENST00000302291.4 - 4 3611_3612 c.2810_2811insC c.(2809-2811)cacfs p.H937fs LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTATTCGAGTTGGGGGGTCTTC 0.495 12 429 --- --- --- --- LUZP1 7798 broad.mit.edu 37 1 23419318 23419319 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:23419318_23419319insG ENST00000302291.4 - 4 2237_2238 c.1436_1437insC c.(1435-1437)cgcfs p.R479fs LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 479 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CCTGAGCAGCCGGGGGGTAGCG 0.569 10 508 --- --- --- --- STPG1 90529 broad.mit.edu 37 1 24700193 24700194 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:24700193_24700194insG ENST00000374409.1 - 6 823_824 c.571_splice c.e6+1 p.R190_splice STPG1_ENST00000440416.1_Splice_Site_p.R143_splice|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Splice_Site_p.R190_splice|STPG1_ENST00000003583.8_Splice_Site_p.R143_splice NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 GCTGCTTACCTGGGGGAGGTCC 0.485 10 2473 --- --- --- --- LDLRAP1 26119 broad.mit.edu 37 1 25889626 25889627 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:25889626_25889627insC ENST00000374338.4 + 6 717_718 c.598_599insC c.(598-600)cccfs p.P200fs LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 200 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CCAAGACTGCACCCCCTCCTTG 0.634 10 156 --- --- --- --- RPS6KA1 6195 broad.mit.edu 37 1 26885310 26885311 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:26885310_26885311insC ENST00000374168.2 + 14 1251_1252 c.1097_1098insC c.(1096-1098)accfs p.T366fs RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 366 AGC-kinase C-terminal. 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) TCCCCAGGCATCCCCCCCAGCG 0.673 7 214 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27101267 27101268 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:27101267_27101268insC ENST00000324856.7 + 18 4920_4921 c.4549_4550insC c.(4549-4551)cccfs p.P1517fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P1134fs|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1517 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CACGGGCTCTGCCCCCCAGGGC 0.584 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 10 557 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5539-5544)ggggggfs p.GG1847fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 381 --- --- --- --- WASF2 10163 broad.mit.edu 37 1 27736340 27736340 + Frame_Shift_Del DEL A A - rs71584884 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:27736340delA ENST00000430629.2 - 8 1400 c.1185delT c.(1183-1185)ccfs p.P400fs WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 400 Poly-Pro. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) gaggaggaggagggggaggag 0.642 15 157 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 12 506 --- --- --- --- SDC3 9672 broad.mit.edu 37 1 31347369 31347370 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:31347369_31347370insC ENST00000336798.7 - 2 2254_2255 c.762_763insG c.(760-765)ggccagfs p.Q255fs SDC3_ENST00000339394.6_Frame_Shift_Ins_p.Q313fs O75056 SDC3_HUMAN syndecan 3 313 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCACTGGGCCCCCCACTCA 0.609 8 251 --- --- --- --- PUM1 9698 broad.mit.edu 37 1 31406073 31406074 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:31406073_31406074insG ENST00000373747.3 - 22 3653_3654 c.3554_3555insC c.(3553-3555)caafs p.Q1185fs PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1182 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGATACCATTAGGGGGGCCACA 0.525 13 516 --- --- --- --- IQCC 55721 broad.mit.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:32673442_32673443insG ENST00000537469.1 + 5 1447_1448 c.1400_1401insG c.(1399-1401)tggfs p.W467fs IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 387 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATGGTACCTTGGGGGGGCCAG 0.550 22 383 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 13 192 --- --- --- --- ADC 113451 broad.mit.edu 37 1 33583704 33583705 + In_Frame_Ins INS - - TGG TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:33583704_33583705insTGG ENST00000294517.6 + 11 1818_1819 c.1231_1232insTGG c.(1231-1233)ccg>TGGccg p.410_411insW ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.410_411insW|ADC_ENST00000398167.1_In_Frame_Ins_p.430_431insW|ADC_ENST00000373441.1_In_Frame_Ins_p.430_431insW NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 410 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTATGCCATGTCCCGGGTGGCC 0.579 7 119 --- --- --- --- PHC2 1912 broad.mit.edu 37 1 33799791 33799792 + Frame_Shift_Ins INS - - G rs34753508 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:33799791_33799792insG ENST00000257118.5 - 9 1710_1711 c.1657_1658insC c.(1657-1659)gaafs p.E553fs PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 553 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTCACCATTCTGGGGGGCAGTG 0.589 8 387 --- --- --- --- CSMD2 114784 broad.mit.edu 37 1 34035115 34035116 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:34035115_34035116insG ENST00000373381.4 - 52 8165_8166 c.7989_7990insC c.(7987-7992)ccatggfs p.W2664fs NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2666 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGGTGGCCATTGGGGGGAATCG 0.554 7 159 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36354044 36354045 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:36354044_36354045insC ENST00000373204.4 + 2 255_256 c.42_43insC c.(40-45)ctccccfs p.LP14fs AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GCGCTTACCTGCCCCCCCTGCA 0.569 17 184 --- --- --- --- MAP7D1 55700 broad.mit.edu 37 1 36636763 36636764 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:36636763_36636764insC ENST00000316156.4 + 2 691_692 c.238_239insC c.(238-240)cccfs p.P80fs MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 80 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCTAGGCCAGCCCCCCCGCAG 0.653 21 260 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 31 636 --- --- --- --- GRIK3 2899 broad.mit.edu 37 1 37291402 37291403 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:37291402_37291403insG ENST00000373091.3 - 11 1571_1572 c.1555_1556insC c.(1555-1557)gacfs p.D519fs GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.D519fs NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 519 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGTGATGGTCAGGGGGGCCACG 0.540 9 1555 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 9 312 --- --- --- --- RNF220 55182 broad.mit.edu 37 1 44878032 44878033 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:44878032_44878033insC ENST00000355387.2 + 2 713_714 c.263_264insC c.(262-264)tccfs p.S88fs RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs Q5VTB9 RN220_HUMAN ring finger protein 220 88 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AATCGTGATTTCCCCCCTTCTC 0.515 11 806 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 32 478 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65143921 65143922 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:65143921_65143922insC ENST00000371073.2 + 23 3172_3173 c.3172_3173insC c.(3172-3174)cccfs p.P1058fs CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1007fs|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1058 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACCCTACTGTGCCCCCCAGAAA 0.485 9 199 --- --- --- --- PTGFR 5737 broad.mit.edu 37 1 78958518 78958519 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:78958518_78958519insT ENST00000370756.3 + 2 327_328 c.90_91insT c.(88-93)gtttttfs p.VF30fs PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 30 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GGCTTTCCGTATTTTTTTCAGT 0.450 17 1740 --- --- --- --- CLCA2 9635 broad.mit.edu 37 1 86921042 86921043 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:86921042_86921043insC ENST00000370565.4 + 14 2826_2827 c.2664_2665insC c.(2662-2667)atccccfs p.IP888fs NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 888 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CTCTGTTTATTCCCCCCAATTC 0.396 7 375 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 8 103 --- --- --- --- LRRC8C 84230 broad.mit.edu 37 1 90179646 90179647 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:90179646_90179647insC ENST00000370454.4 + 3 1772_1773 c.1517_1518insC c.(1516-1518)cccfs p.P506fs RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 506 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ATGAGGGAACTCCCCCCCTGGA 0.500 11 314 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 55 754 --- --- --- --- PPM1J 333926 broad.mit.edu 37 1 113253630 113253631 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:113253630_113253631insT ENST00000464951.1 - 8 1899_1900 c.492_splice c.e8+1 p.S164_splice RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000359994.4_Splice_Site_p.S164_splice|PPM1J_ENST00000309276.6_Splice_Site_p.S370_splice|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.L52_splice Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 370 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAGTTTACCTTTTTGCCCTC 0.559 8 1803 --- --- --- --- SLC16A1 6566 broad.mit.edu 37 1 113471889 113471890 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:113471889_113471890insG ENST00000538576.1 - 2 872_873 c.41_42insC c.(40-42)cgafs p.R14fs SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 14 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGCCTCCATCTGGGGGGGTGTA 0.426 7 77 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118584454 118584455 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:118584454_118584455insG ENST00000336338.5 - 21 3090_3091 c.3025_3026insC c.(3025-3027)ccafs p.P1009fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1009 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCTGGTTGGTGGGGGGACTCT 0.371 8 517 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145584022 145584023 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:145584022_145584023insC ENST00000393045.2 + 10 1343_1344 c.1253_1254insC c.(1252-1254)tccfs p.S418fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 418 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGAGGTTTGCCCCCCGCCAG 0.500 20 906 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 10 105 --- --- --- --- GJA5 2702 broad.mit.edu 37 1 147230551 147230552 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:147230551_147230552insG ENST00000271348.2 - 2 956_957 c.795_796insC c.(793-798)ccacttfs p.L266fs GJA5_ENST00000369237.1_Frame_Shift_Ins_p.L266fs NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 266 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.P265P(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TGATTAAAGTCGGGGGGTGGTG 0.530 7 308 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150477198 150477199 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:150477198_150477199insG ENST00000369064.3 + 15 1843_1844 c.1809_1810insG c.(1807-1812)tgggggfs p.WG603fs TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.C603C(2)|p.G604W(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAATG 0.569 7 444 --- --- --- --- SETDB1 9869 broad.mit.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:150917623_150917624insG ENST00000368962.2 + 9 1305_1306 c.1179_1180insG c.(1177-1182)ggggggfs p.GG393fs SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000368969.4_Intron NM_001243491.1 NP_001230420.1 Q15047 SETB1_HUMAN SET domain, bifurcated 1 0 Tudor 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAGGTTGGTGGGGGGGGAAC 0.475 10 91 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 17 312 --- --- --- --- SELENBP1 8991 broad.mit.edu 37 1 151338280 151338281 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:151338280_151338281insG ENST00000435071.1 - 8 1155_1156 c.693_694insC c.(691-696)ccagaafs p.E232fs SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs Q13228 SBP1_HUMAN selenium binding protein 1 296 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCACTTTCTTGGGGGGCACCT 0.545 7 294 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152279926 152279936 + Frame_Shift_Del DEL TCGTAGTGGGA TCGTAGTGGGA - rs77498426 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152279926_152279936delTCGTAGTGGGA ENST00000368799.1 - 3 7461_7471 c.7426_7436delTCCCACTACGA c.(7426-7437)gfs p.SHYE2476fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2476 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACCAATTGCTCGTAGTGGGATCCCTGCCTT 0.573 Ichthyosis 11 387 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152281828 152281828 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152281828delT ENST00000368799.1 - 3 5569 c.5534delA c.(5533-5535)ccfs p.H1845fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1845 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGACGTGGTGTGGCTGTGATG 0.542 Ichthyosis 33 513 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152282888 152282893 + In_Frame_Del DEL GTCCAC GTCCAC - rs143101193 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152282888_152282893delGTCCAC ENST00000368799.1 - 3 4504_4509 c.4469_4474delGTGGAC c.(4468-4476)cac>c p.RGH1490del FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1490 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCCGGGTGTCCACGAATGGTGTC 0.583 Ichthyosis 14 631 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152283772 152283772 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152283772delT ENST00000368799.1 - 3 3625 c.3590delA c.(3589-3591)ccfs p.H1197fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1197 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATGTGGTGTGGCTGTGATG 0.562 Ichthyosis 33 502 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152283860 152283865 + In_Frame_Del DEL GTGCAC GTGCAC - rs58001094 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152283860_152283865delGTGCAC ENST00000368799.1 - 3 3532_3537 c.3497_3502delGTGCAC c.(3496-3504)cac>c p.RAH1166del FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1166 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCCGGGTGTGCACGAATGGTGTC 0.602 Ichthyosis 11 575 --- --- --- --- KPRP 448834 broad.mit.edu 37 1 152732677 152732678 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:152732677_152732678insC ENST00000368773.1 + 2 671_672 c.613_614insC c.(613-615)cccfs p.P205fs KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 205 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAACAACTACACCCCCCAGTTC 0.574 8 406 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153317810 153317811 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:153317810_153317811insC ENST00000368739.3 - 4 533_534 c.175_176insG c.(175-177)agafs p.R59fs PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 63 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AACAGCTTCTGCCCCCCATGCC 0.589 9 650 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:154246356_154246357insG ENST00000328703.7 + 3 636_637 c.423_424insG c.(421-426)ttggggfs p.LG141fs HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 141 Involved in HCLS1 binding. F -> L (in SCN3; mild form). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 Kostmann syndrome 19 299 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156628493 156628494 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:156628493_156628494insC ENST00000329117.4 + 13 2932_2933 c.2596_2597insC c.(2596-2598)cccfs p.P866fs RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000496038.1_3'UTR NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 866 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCGTTGGGAGGCCCCCCAGATC 0.604 8 273 --- --- --- --- MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:156708444_156708445insG ENST00000368211.4 - 2 190_191 c.52_53insC c.(52-54)ttafs p.L18fs MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 17 302 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159904586 159904587 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:159904586_159904587insG ENST00000368094.1 - 7 896_897 c.699_700insC c.(697-702)ccagaafs p.E234fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 234 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGTTCTTGGGGGGCACCA 0.569 11 464 --- --- --- --- VANGL2 57216 broad.mit.edu 37 1 160388801 160388802 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:160388801_160388802insG ENST00000368061.2 + 4 676_677 c.202_203insG c.(202-204)gggfs p.G68fs NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 68 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.E70fs*17(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGATGACAACTGGGGGGAAACG 0.554 13 526 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 8 557 --- --- --- --- B4GALT3 8703 broad.mit.edu 37 1 161145761 161145762 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:161145761_161145762insC ENST00000319769.5 - 3 311_312 c.89_90insG c.(88-90)gttfs p.V30fs PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.V30fs|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 30 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) GACTTCGGAAGCCCCCCAGTGA 0.599 11 519 --- --- --- --- DDR2 4921 broad.mit.edu 37 1 162745595 162745596 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:162745595_162745596insC ENST00000367922.2 + 16 2448_2449 c.2010_2011insC c.(2008-2013)gaccccfs p.DP670fs DDR2_ENST00000367921.3_Frame_Shift_Ins_p.DP670fs NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 670 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CCCGCCACGAGCCCCCTAATTC 0.470 7 492 --- --- --- --- RCSD1 92241 broad.mit.edu 37 1 167654710 167654711 + Frame_Shift_Ins INS - - C rs144007158 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:167654710_167654711insC ENST00000367854.3 + 3 492_493 c.161_162insC c.(160-162)tccfs p.S54fs RCSD1_ENST00000537350.1_Intron NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 54 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CTCCCCCTGTTCCCCCCCAAGG 0.554 8 256 --- --- --- --- FMO1 2326 broad.mit.edu 37 1 171227337 171227338 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:171227337_171227338insG ENST00000354841.4 + 1 242_243 c.111_112insG c.(109-114)ctggggfs p.LG37fs FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs Q01740 FMO1_HUMAN flavin containing monooxygenase 1 37 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCGATGACCTTGGGGGGCTGTG 0.530 17 873 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176563963 176563964 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:176563963_176563964insG ENST00000367662.3 + 3 2387_2388 c.1223_1224insG c.(1222-1224)cggfs p.R408fs PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 408 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L408fs*49(2)|p.L408L(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCTTTGCTCCTGGGGGGAGACA 0.574 15 506 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181549749 181549750 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:181549749_181549750insC ENST00000526775.1 + 6 953_954 c.788_789insC c.(787-789)gccfs p.A263fs CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 263 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAAGGATTTGACCCCCCTCACC 0.505 13 1457 --- --- --- --- RNASEL 6041 broad.mit.edu 37 1 182554908 182554909 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:182554908_182554909insC ENST00000367559.3 - 2 1286_1287 c.1033_1034insG c.(1033-1035)agcfs p.S345fs RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 345 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CTTCAGGGCTGCCCCCCAGTGT 0.455 8 255 --- --- --- --- FAM129A 116496 broad.mit.edu 37 1 184764537 184764538 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:184764537_184764538insC ENST00000367511.3 - 14 2553_2554 c.2360_2361insG c.(2359-2361)gttfs p.V787fs FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 787 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCTCTGGAAATCCCCCCAACTC 0.668 11 425 --- --- --- --- KIF21B 23046 broad.mit.edu 37 1 200956270 200956271 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:200956270_200956271insG ENST00000332129.2 - 25 3783_3784 c.3467_3468insC c.(3466-3468)cctfs p.P1156fs KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1156 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGATATCCAGTGGGGGGCCCAG 0.559 19 1137 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:201046125_201046126insC ENST00000362061.3 - 12 1975_1976 c.1749_1750insG c.(1747-1752)ggggtafs p.V584fs CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 584 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.574 18 666 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201779175 201779176 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:201779175_201779176insC ENST00000367296.4 + 23 4923_4924 c.4503_4504insC c.(4501-4506)gaccccfs p.DP1501fs NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1501 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGGATGCAGAGCCCCCCGAGAT 0.525 14 506 --- --- --- --- KLHL12 59349 broad.mit.edu 37 1 202862507 202862508 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:202862507_202862508insC ENST00000367261.3 - 11 1657_1658 c.1439_1440insG c.(1438-1440)gttfs p.V480fs KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.V518fs NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 480 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) TACCATCAAATCCCCCCACCAC 0.455 7 846 --- --- --- --- FMOD 2331 broad.mit.edu 37 1 203316599 203316600 + Frame_Shift_Ins INS - - C rs139730140 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:203316599_203316600insC ENST00000354955.4 - 2 1262_1263 c.799_800insG c.(799-801)gccfs p.A267fs FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 267 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CAGCTTGGGCGCCCCCCGGAAG 0.579 9 239 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203668728 203668729 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:203668728_203668729insG ENST00000357681.5 + 4 1655_1656 c.532_533insG c.(532-534)gggfs p.G178fs ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.G178fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 178 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGCAATTCCGGGGGCTGCAG 0.510 9 908 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G rs115574296 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:204438071_204438072insG ENST00000367187.3 - 3 1415_1416 c.859_860insC c.(859-861)cacfs p.H287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCATAGGTGCGGGGGGGCACC 0.624 22 178 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204924032 204924033 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:204924032_204924033insC ENST00000367172.4 + 7 816_817 c.488_489insC c.(487-489)accfs p.T163fs NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs O94856 NFASC_HUMAN neurofascin 163 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P159fs*12(1)|p.P165fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTCCAGTGCAACCCCCCGCCTG 0.559 9 745 --- --- --- --- TMEM81 388730 broad.mit.edu 37 1 205052693 205052694 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:205052693_205052694insC ENST00000367167.3 - 1 951_952 c.755_756insG c.(754-756)gctfs p.A252fs NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 252 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACTGCTGCAGGCCCCCCCTTAG 0.540 11 207 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 23 480 --- --- --- --- LAMB3 3914 broad.mit.edu 37 1 209807794 209807795 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:209807794_209807795insC ENST00000391911.1 - 5 950_951 c.561_562insG c.(559-564)ggaggtfs p.G188fs LAMB3_ENST00000356082.4_Frame_Shift_Ins_p.G188fs|LAMB3_ENST00000367030.3_Frame_Shift_Ins_p.G188fs NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 188 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTACCTACCTTCCCCCCATTTA 0.599 8 372 --- --- --- --- DIEXF 27042 broad.mit.edu 37 1 210014266 210014267 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:210014266_210014267insC ENST00000491415.2 + 8 1408_1409 c.1351_1352insC c.(1351-1353)cccfs p.P451fs NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 451 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CCTCATTGCTTCCCCCCTGGGC 0.465 8 393 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223395558 223395559 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:223395558_223395559insC ENST00000343846.3 - 8 2081_2082 c.1448_1449insG c.(1447-1449)accfs p.T483fs SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.T483fs|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.T323fs Q5VX71 SUSD4_HUMAN sushi domain containing 4 483 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CCATTAGAGGAATCTCTGTAAA 0.406 64 599 --- --- --- --- PGBD5 79605 broad.mit.edu 37 1 230493044 230493045 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr1:230493044_230493045insG ENST00000321327.2 - 4 443_444 c.444_445insC c.(442-447)ccgcgcfs p.R149fs PGBD5_ENST00000391860.1_Frame_Shift_Ins_p.R4fs|PGBD5_ENST00000525115.1_Frame_Shift_Ins_p.R50fs Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 50 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GCACTGGCGCTGGGGGGCATCT 0.569 7 481 --- --- --- --- KCNS3 3790 broad.mit.edu 37 2 18112337 18112338 + Frame_Shift_Ins INS - - G rs35579067 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:18112337_18112338insG ENST00000403915.1 + 3 513_514 c.62_63insG c.(61-63)gggfs p.G21fs KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 21 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCTGAATGTGGGGGGCTTTA 0.535 8 879 --- --- --- --- DNMT3A 1788 broad.mit.edu 37 2 25523008 25523009 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:25523008_25523009insG ENST00000264709.3 - 3 513_514 c.177_splice c.e3+1 p.R59_splice DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice|DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 59 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACACTCACCGGGGGGTGCTT 0.649 """Mis, F, N, S""" AML 15 354 --- --- --- --- CAD 790 broad.mit.edu 37 2 27456981 27456982 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:27456981_27456982insC ENST00000264705.4 + 22 3667_3668 c.3505_3506insC c.(3505-3507)cccfs p.P1169fs CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1169 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GACGCTGGTGACCCCCCCACAA 0.574 7 197 --- --- --- --- SLC30A3 7781 broad.mit.edu 37 2 27479379 27479380 + Frame_Shift_Ins INS - - G rs146572471 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:27479379_27479380insG ENST00000233535.4 - 7 1244_1245 c.892_893insC c.(892-894)caafs p.Q298fs SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 298 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity p.R298H(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCACATTGCGGGGGGTACCT 0.604 12 978 --- --- --- --- NRBP1 29959 broad.mit.edu 37 2 27658017 27658018 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:27658017_27658018insC ENST00000233557.3 + 8 1416_1417 c.584_585insC c.(583-585)gccfs p.A195fs NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 195 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CACTCCTGTGACCCCCCCATCA 0.589 9 339 --- --- --- --- XDH 7498 broad.mit.edu 37 2 31598344 31598345 + Frame_Shift_Del DEL CA CA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:31598344_31598345delCA ENST00000379416.3 - 15 1551_1552 c.1503_1504delTG c.(1501-1506)ccgtfs p.PG501fs NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 501 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACCATGCCACCAGGGGCATCGG 0.604 17 110 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48030796 48030797 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:48030796_48030797insG ENST00000234420.4 + 5 3562_3563 c.3410_3411insG c.(3409-3411)aggfs p.R1137fs MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1137 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGACCAAATATGGGGGGCAAGT 0.376 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 8 1093 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54167139 54167140 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:54167139_54167140insG ENST00000404125.1 - 4 556 c.e4-2 PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.?(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAAA 0.347 7 64 --- --- --- --- B3GNT2 10678 broad.mit.edu 37 2 62449597 62449598 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:62449597_62449598insG ENST00000301998.4 + 2 494_495 c.242_243insG c.(241-243)aggfs p.R81fs B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.R81fs NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 81 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.T81T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) ACCAACCAGACGGGGGAGGCGG 0.554 7 2316 --- --- --- --- PLEK 5341 broad.mit.edu 37 2 68622886 68622887 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:68622886_68622887insC ENST00000234313.7 + 9 1170_1171 c.991_992insC c.(991-993)cccfs p.P331fs NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 331 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCAAGCAGCCACCCCCAAGGAG 0.540 8 740 --- --- --- --- ANTXR1 84168 broad.mit.edu 37 2 69409763 69409764 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:69409763_69409764insC ENST00000303714.4 + 16 1646_1647 c.1324_1325insC c.(1324-1326)cccfs p.P442fs NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 442 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TCGGCCTTCTTCCCCCCGGAAG 0.421 Familial Infantile Hemangioma 7 373 --- --- --- --- NAT8 9027 broad.mit.edu 37 2 73868515 73868516 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:73868515_73868516insT ENST00000272425.3 - 2 389_390 c.240_241insA c.(238-243)aacctgfs p.NL80fs NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 80 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 TCCGTCCAGGGTTTTTTGGCAA 0.564 16 1432 --- --- --- --- NAT8 9027 broad.mit.edu 37 2 73868608 73868609 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:73868608_73868609insC ENST00000272425.3 - 2 296_297 c.147_148insG c.(145-150)ggccctfs p.GP49fs NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 49 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 AGGGCGAGGGGCCCCCCAAGTA 0.614 8 593 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74480126 74480127 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:74480126_74480127insG ENST00000394019.2 - 15 1639_1640 c.1242_1243insC c.(1240-1245)ccagaafs p.E415fs SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 415 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGCACCTTCTTGGGGGGCTCAA 0.475 8 278 --- --- --- --- DCTN1 1639 broad.mit.edu 37 2 74593376 74593377 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:74593376_74593377insG ENST00000361874.3 - 23 3071_3072 c.2754_2755insC c.(2752-2757)ccgcaafs p.Q919fs DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 919 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCTACCTTGCTGGGGGGCCGCT 0.559 7 621 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690034 74690035 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:74690034_74690035insG ENST00000233616.4 - 4 1043_1044 c.881_882insC c.(880-882)cgafs p.R294fs MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 294 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GGTAGCGTTCAGGGGGGGCCCC 0.584 7 389 --- --- --- --- PCGF1 84759 broad.mit.edu 37 2 74732899 74732900 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:74732899_74732900insG ENST00000233630.6 - 6 1442 c.e6-2 PCGF1_ENST00000480844.2_Splice_Site NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 TTGCCAGAACTGGGGGGAAATA 0.530 16 1005 --- --- --- --- SEMA4F 10505 broad.mit.edu 37 2 74906845 74906846 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:74906845_74906846insC ENST00000357877.2 + 14 1971_1972 c.1822_1823insC c.(1822-1824)cccfs p.P608fs SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 608 Ig-like C2-type. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GACTGCACTCACCCCCCGGCGG 0.629 26 570 --- --- --- --- HK2 3099 broad.mit.edu 37 2 75104377 75104378 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:75104377_75104378insG ENST00000290573.2 + 8 1560_1561 c.960_961insG c.(958-963)ttggggfs p.LG320fs HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 320 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 AGCTGCTCTTTGGGGGGAAGCT 0.545 29 1510 --- --- --- --- TCF7L1 83439 broad.mit.edu 37 2 85536195 85536196 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:85536195_85536196insC ENST00000282111.3 + 12 1652_1653 c.1377_1378insC c.(1375-1380)ctccccfs p.LP459fs NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 459 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 TTCAGTACCTGCCCCCCGAGAA 0.614 11 290 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85863227 85863228 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:85863227_85863228insG ENST00000323701.6 + 7 1011_1012 c.1001_1002insG c.(1000-1002)cggfs p.R334fs USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 334 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CACTCAGCTCTGGGGGGCACAA 0.416 7 457 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 6 --- --- --- --- ANKRD23 200539 broad.mit.edu 37 2 97507820 97507821 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:97507820_97507821insG ENST00000318357.4 - 3 317_318 c.276_277insC c.(274-279)ccggaafs p.E93fs ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 93 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 TCAGGTTTCCTGGGGGGGACTC 0.530 7 230 --- --- --- --- MFSD9 84804 broad.mit.edu 37 2 103334977 103334978 + Frame_Shift_Ins INS - - G rs145424077 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:103334977_103334978insG ENST00000258436.5 - 6 1369_1370 c.1326_1327insC c.(1324-1329)ccgcctfs p.P443fs NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 443 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GCGCCCAGGCTGGGGGGGCCGC 0.554 9 84 --- --- --- --- EDAR 10913 broad.mit.edu 37 2 109539836 109539837 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:109539836_109539837insG ENST00000409271.1 - 6 872_873 c.429_430insC c.(427-432)ccacacfs p.H144fs EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 144 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TCCTTGGTGTTGGGGGGTGCCA 0.535 12 436 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128467384 128467385 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:128467384_128467385insG ENST00000322313.4 - 19 3512_3513 c.3354_3355insC c.(3352-3357)ccgaggfs p.R1119fs NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1119 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCCCTTCCTCTGGGGGGAGCAC 0.545 8 1102 --- --- --- --- MAP3K19 80122 broad.mit.edu 37 2 135740765 135740766 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:135740765_135740766insC ENST00000392915.1 - 9 3528_3529 c.3409_3410insG c.(3409-3411)gggfs p.G1137fs MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron mitogen-activated protein kinase kinase kinase 19 ttcatcgcccaccccCCAAGAT 0.376 9 270 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 12 241 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 16 363 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179398169 179398170 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:179398169_179398170insG ENST00000589042.1 - 358 103396_103397 c.103172_103173insC c.(103171-103173)cccfs p.P34391fs TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P25451fs|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P31823fs|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P25518fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P25326fs|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P32750fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32750 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) TTAATGTTGGTGGGGGGATGCC 0.460 10 391 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 28 594 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 16 415 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197171262 197171263 + Frame_Shift_Ins INS - - G rs144884935 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:197171262_197171263insG ENST00000260983.2 - 13 2945_2946 c.2763_2764insC c.(2761-2766)cctgaafs p.E922fs HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 922 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGGAACTTCACGGGGGGAGACT 0.530 10 574 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202588159 202588160 + Frame_Shift_Ins INS - - C rs41309046 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:202588159_202588160insC ENST00000264276.6 - 22 3889_3890 c.3517_3518insG c.(3517-3519)aaafs p.K1173fs ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1173 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATATACTTTTCCCCCCTGCAC 0.406 8 431 --- --- --- --- GPR1 2825 broad.mit.edu 37 2 207041591 207041592 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:207041591_207041592insA ENST00000407325.2 - 3 742_743 c.380_381insT c.(379-381)tctfs p.S127fs GPR1_ENST00000437420.1_Frame_Shift_Ins_p.S127fs NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 127 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) TCACTGTCAGGAAAAAAACACT 0.455 10 404 --- --- --- --- RNF25 64320 broad.mit.edu 37 2 219529513 219529514 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:219529513_219529514insC ENST00000295704.2 - 9 1189_1190 c.749_750insG c.(748-750)gatfs p.D250fs NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 250 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding p.I251fs*3(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCAATGATTCCCCCCCGCTC 0.564 9 308 --- --- --- --- CCDC108 255101 broad.mit.edu 37 2 219883882 219883883 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:219883882_219883883insG ENST00000341552.5 - 21 3575_3576 c.3492_3493insC c.(3490-3495)cctcctfs p.P1165fs CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.P1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.P1165fs NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1165 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGTGAGGACGGGGGGGATCT 0.614 7 92 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 13 220 --- --- --- --- ATG16L1 55054 broad.mit.edu 37 2 234171866 234171866 + Frame_Shift_Del DEL C C - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:234171866delC ENST00000392017.4 + 3 557 c.300delC c.(298-300)cafs p.H100fs ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 100 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) CTGAATTACACAAGAAACGTG 0.502 10 44 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 21 370 --- --- --- --- PPP1R7 5510 broad.mit.edu 37 2 242092998 242092999 + Frame_Shift_Ins INS - - G rs140300724 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr2:242092998_242092999insG ENST00000234038.6 + 2 634_635 c.160_161insG c.(160-162)gggfs p.G54fs PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000272983.8_Intron NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 54 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) TGGGGAGGAGCGGGGGGAGGAG 0.629 8 424 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9034599 9034600 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:9034599_9034600insC ENST00000383836.3 - 20 2975_2976 c.2548_2549insG c.(2548-2550)gatfs p.D850fs SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 850 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCGGCCCATCACCCCCCCAAAG 0.554 T RAF1 pilocytic astrocytoma 11 81 --- --- --- --- VHL 7428 broad.mit.edu 37 3 10188268 10188269 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:10188268_10188269insC ENST00000256474.2 + 2 1251_1252 c.411_412insC c.(409-414)gtcatcfs p.I138fs VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 138 Involved in binding to CCT complex. anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.P138fs*1(2) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) AATTATTTGTGCCATCTCTCAA 0.421 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 78 139 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10312538 10312539 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:10312538_10312539insG ENST00000287652.4 + 4 2723_2724 c.1672_1673insG c.(1672-1674)gggfs p.G558fs RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 558 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGATCTGGTCTGGGGGGCCTTT 0.505 10 940 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14538073 14538073 + RNA DEL A A - rs11333211 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:14538073delA ENST00000273083.3 - 0 2744 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGATGCCTGCAAGGAACACGG 0.607 8 146 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38043303 38043304 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:38043303_38043304insC ENST00000283713.6 + 13 1697_1698 c.1431_1432insC c.(1429-1434)gaccccfs p.DP477fs VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs O15195 VILL_HUMAN villin-like 477 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton p.H480fs*38(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGGCAGCGAGCCCCCCCACTT 0.594 10 139 --- --- --- --- TRAK1 22906 broad.mit.edu 37 3 42242449 42242450 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:42242449_42242450insC ENST00000327628.5 + 12 1730_1731 c.1330_1331insC c.(1330-1332)cccfs p.P444fs TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 444 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CTGCGTCAGCACCCCCCGGTCC 0.594 7 540 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G rs141234052 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:50005144_50005145insG ENST00000266022.4 + 3 545_546 c.286_287insG c.(286-288)gggfs p.G96fs RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 96 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGAT 0.495 11 142 --- --- --- --- SFMBT1 51460 broad.mit.edu 37 3 52962211 52962212 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:52962211_52962212insG ENST00000394752.3 - 9 1425_1426 c.1043_1044insC c.(1042-1044)cccfs p.P348fs SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 348 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GTGCACCTGGAGGGGGGCTGAT 0.530 8 474 --- --- --- --- IL17RB 55540 broad.mit.edu 37 3 53898813 53898814 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:53898813_53898814insC ENST00000288167.3 + 11 996_997 c.987_988insC c.(985-990)ctccccfs p.LP329fs NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 329 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) CCACACTACTGCCCCCCATTAA 0.406 7 799 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 10 194 --- --- --- --- CADPS 8618 broad.mit.edu 37 3 62459994 62459995 + Splice_Site INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:62459994_62459995insA ENST00000383710.4 - 24 3679_3680 c.3329_splice c.e24-1 p.Q1111_splice CADPS_ENST00000357948.3_Splice_Site_p.Q1032_splice|CADPS_ENST00000283269.9_Splice_Site_p.Q1072_splice NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1111 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCAATCCTGGTTCTATTAAAAC 0.396 24 144 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87018182 87018183 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:87018182_87018183insC ENST00000398399.2 - 3 857_858 c.494_495insG c.(493-495)ggtfs p.G165fs VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGGATGAACTCCCCCCAAACA 0.579 9 325 --- --- --- --- CPOX 1371 broad.mit.edu 37 3 98304318 98304319 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:98304318_98304319insG ENST00000264193.2 - 5 1356_1357 c.1138_1139insC c.(1138-1140)ggafs p.G380fs NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 380 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CAGCTTCTCCTGGGGGGTGAAT 0.500 10 565 --- --- --- --- TAGLN3 29114 broad.mit.edu 37 3 111718404 111718405 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:111718404_111718405insC ENST00000393917.2 + 2 687_688 c.135_136insC c.(133-138)ccccccfs p.PP45fs TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 45 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 TAGAGCACCCGCCCCCCGGCAG 0.614 9 168 --- --- --- --- IGSF11 152404 broad.mit.edu 37 3 118647520 118647521 + Frame_Shift_Ins INS - - G rs145433873 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:118647520_118647521insG ENST00000354673.2 - 5 636_637 c.256_257insC c.(256-258)gttfs p.V86fs IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 87 Ig-like V-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ACCGTGGAACCGGGGGGCACCA 0.465 8 208 --- --- --- --- GPR156 165829 broad.mit.edu 37 3 119885959 119885960 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:119885959_119885960insC ENST00000464295.1 - 10 2809_2810 c.2364_2365insG c.(2362-2367)ggtggcfs p.G789fs GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 789 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CAGGAAGCCAGCCCCCCAGTAG 0.550 13 553 --- --- --- --- GPR156 165829 broad.mit.edu 37 3 119900210 119900211 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:119900210_119900211insG ENST00000464295.1 - 8 1142 c.e8-2 GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GAGCAGACCCTGGGGGGTGAAG 0.515 7 262 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 10 109 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126180565 126180566 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:126180565_126180566insG ENST00000389709.3 - 6 1992_1993 c.1939_1940insC c.(1939-1941)agafs p.R647fs ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 647 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GGCATTTTCTCGGGGGGTGCTC 0.579 7 407 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129183576 129183577 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:129183576_129183577insG ENST00000296266.3 + 8 860_861 c.668_669insG c.(667-669)cggfs p.R223fs IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 172 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.P223P(1) 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 ATCGAGCGGCCGGGGGGCTCCC 0.505 8 324 --- --- --- --- PLXND1 23129 broad.mit.edu 37 3 129324871 129324872 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:129324871_129324872insC ENST00000393239.1 - 1 789_790 c.611_612insG c.(610-612)gagfs p.E204fs PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E204fs Q9Y4D7 PLXD1_HUMAN plexin D1 204 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCAGGCGGCTgccccccgcgcc 0.708 2 4 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130281934 130281935 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:130281934_130281935insT ENST00000358511.6 + 2 118_119 c.87_88insT c.(85-90)gtttttfs p.VF29fs COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.VF29fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 29 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CAGATGTTGTGTTTTTGGTGGA 0.431 8 723 --- --- --- --- TF 7018 broad.mit.edu 37 3 133476713 133476714 + Frame_Shift_Ins INS - - C rs148358704 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:133476713_133476714insC ENST00000402696.3 + 8 1456_1457 c.971_972insC c.(970-972)gccfs p.A324fs TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 324 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTTTTAAAAGTCCCCCCCAGGA 0.485 7 204 --- --- --- --- STAG1 10274 broad.mit.edu 37 3 136141378 136141379 + Frame_Shift_Del DEL AC AC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:136141378_136141379delAC ENST00000383202.2 - 19 2166_2167 c.1910_1911delGT c.(1909-1911)afs p.S637fs STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 637 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TATAGGTTTTACTGCAGGCTTC 0.371 33 108 --- --- --- --- LOC100507291 100507291 broad.mit.edu 37 3 139212981 139212982 + RNA INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:139212981_139212982insC ENST00000515247.1 + 0 317 GATGACCAAGGCCCCCCCTTGT 0.530 7 117 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 15 794 --- --- --- --- KPNA4 3840 broad.mit.edu 37 3 160245789 160245789 + Frame_Shift_Del DEL G G - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:160245789delG ENST00000334256.4 - 8 813 c.508delC c.(508-510)atfs p.H170fs NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 170 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ACATTCTGATGGGGTGAATGG 0.348 48 51 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165547909 165547915 + Frame_Shift_Del DEL CTTCATT CTTCATT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:165547909_165547915delCTTCATT ENST00000264381.3 - 2 1073_1079 c.907_913delAATGAAG c.(907-915)cafs p.NEA303fs BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 303 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ACAACAAATGCTTCATTCAGAAGAATT 0.401 33 123 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:172096209_172096210insC ENST00000336824.4 + 24 3257_3258 c.3158_3159insC c.(3157-3159)gccfs p.A1053fs FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1053 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCAAAAGTGTCCCCCCCACCA 0.470 9 177 --- --- --- --- HTR3C 170572 broad.mit.edu 37 3 183777416 183777417 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:183777416_183777417insC ENST00000318351.1 + 7 947_948 c.913_914insC c.(913-915)cccfs p.P305fs NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGCCAGTGGCACCCCCCTCATC 0.584 8 629 --- --- --- --- LPP 4026 broad.mit.edu 37 3 188478066 188478066 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr3:188478066delA ENST00000312675.4 + 8 1652 c.1406delA c.(1405-1407)tcfs p.Y469fs LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 469 LIM zinc-binding 1. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GAGCCCTGCTACATTGTAAGT 0.453 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 11 250 --- --- --- --- LETM1 3954 broad.mit.edu 37 4 1843235 1843236 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:1843235_1843236insG ENST00000302787.2 - 3 728_729 c.432_433insC c.(430-435)cccagafs p.R145fs NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 145 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ACCACCTCTGCGGGGGGGCTGT 0.604 22 330 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:2661592_2661593insC ENST00000324666.5 + 8 1034_1035 c.683_684insC c.(682-684)gccfs p.A228fs FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 17 778 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2674078 2674079 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:2674078_2674079insC ENST00000324666.5 + 11 1788_1789 c.1437_1438insC c.(1435-1440)acccccfs p.TP479fs FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.TP501fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.TP479fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 479 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGTATGCAACGCCCCCCTTCAC 0.510 7 258 --- --- --- --- ZBTB49 166793 broad.mit.edu 37 4 4304018 4304019 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:4304018_4304019insC ENST00000337872.4 + 3 576_577 c.455_456insC c.(454-456)tccfs p.S152fs ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.S152fs|ZBTB49_ENST00000538529.1_5'UTR NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 AGTGAAAACTACCCCCCTCATT 0.470 7 276 --- --- --- --- CPEB2 132864 broad.mit.edu 37 4 15067857 15067858 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:15067857_15067858insT ENST00000538197.1 + 12 2958_2959 c.2958_2959insT c.(2956-2961)ccttttfs p.PF986fs RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 541 regulation of translation cytoplasm nucleotide binding|RNA binding p.P541P(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 AATTTGCTCCCTTTTTTTGTGC 0.441 10 423 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:38691475_38691476insC ENST00000261438.5 + 4 975_976 c.670_671insC c.(670-672)cccfs p.P224fs KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GAACTCAGTGTCCCCCCCGCAA 0.426 7 353 --- --- --- --- CORIN 10699 broad.mit.edu 37 4 47676518 47676519 + Splice_Site INS - - TT TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:47676518_47676519insTT ENST00000273857.4 - 10 1249 c.e10-1 CORIN_ENST00000504584.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site|CORIN_ENST00000502252.1_Splice_Site NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GAAGTCTGAACTACAGAGGGAG 0.441 56 421 --- --- --- --- ENAM 10117 broad.mit.edu 37 4 71503554 71503555 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:71503554_71503555insG ENST00000396073.3 + 8 863_864 c.582_583insG c.(580-585)gaggggfs p.EG194fs ENAM_ENST00000472903.1_3'UTR NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 194 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GCAATGAAGAAGGGGGGGTAAG 0.431 17 380 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79238582 79238583 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:79238582_79238583insC ENST00000264895.6 + 17 2320_2321 c.1880_1881insC c.(1879-1881)accfs p.T627fs FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 627 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAGCCTGCAGCCCCCCCAAGG 0.574 8 112 --- --- --- --- HPGDS 27306 broad.mit.edu 37 4 95223320 95223321 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:95223320_95223321insC ENST00000295256.5 - 5 501_502 c.411_412insG c.(409-414)gggagafs p.R138fs NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 138 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) AGCCATTCTCTCCCCCCTAAAT 0.351 7 555 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:96140293_96140294insG ENST00000453304.1 - 9 1819_1820 c.1471_1472insC c.(1471-1473)agafs p.R491fs UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 491 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 14 659 --- --- --- --- EGF 1950 broad.mit.edu 37 4 110909773 110909774 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:110909773_110909774insC ENST00000265171.5 + 18 3087_3088 c.2642_2643insC c.(2641-2643)tccfs p.S881fs EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 881 EGF-like 7; calcium-binding (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTCCCAGTGTGCCCCCCTGCCT 0.470 10 323 --- --- --- --- C4orf32 132720 broad.mit.edu 37 4 113107915 113107916 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:113107915_113107916insT ENST00000309733.4 + 2 404_405 c.220_221insT c.(220-222)tttfs p.F74fs NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 74 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) AATGGGAACACTTTTTGGTGAA 0.366 8 760 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:134071648_134071649insC ENST00000264360.4 + 1 1179_1180 c.353_354insC c.(352-354)accfs p.T118fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S121fs*13(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTAATGACAACCCCCCCTCTT 0.604 7 213 --- --- --- --- FGG 2266 broad.mit.edu 37 4 155526058 155526059 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:155526058_155526059insC ENST00000404648.3 - 9 1528_1529 c.1289_1290insG c.(1288-1290)ggcfs p.G430fs FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 430 Platelet aggregation and Staphylococcus clumping. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCTGTTTGGCTCCCCCCAGGTG 0.450 10 609 --- --- --- --- SNX25 83891 broad.mit.edu 37 4 186188239 186188240 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:186188239_186188240insC ENST00000504273.1 + 5 823_824 c.529_530insC c.(529-531)cccfs p.P177fs SNX25_ENST00000264694.8_Frame_Shift_Ins_p.P177fs Q9H3E2 SNX25_HUMAN sorting nexin 25 177 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CTACACCTATGCCCCCTCTTAC 0.441 10 381 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 28 587 --- --- --- --- TRIML2 205860 broad.mit.edu 37 4 189012770 189012771 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr4:189012770_189012771insG ENST00000512729.1 - 7 1294_1295 c.920_921insC c.(919-921)cctfs p.P307fs TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 307 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GCCTTTTCAGAGGGGGGAAGAC 0.559 8 354 --- --- --- --- SEMA5A 9037 broad.mit.edu 37 5 9044549 9044550 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:9044549_9044550insG ENST00000382496.5 - 22 3705_3706 c.3040_3041insC c.(3040-3042)taafs p.*1014fs CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1014 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCTGGTATTAAGGGGGGCAGGT 0.525 8 1316 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24487951 24487952 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:24487951_24487952insG ENST00000264463.4 - 12 2694_2695 c.2187_2188insC c.(2185-2190)ccacgafs p.R730fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 730 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGTGAGTCGTAGGGGGGTGCGG 0.460 HNSCC(23;0.051) 8 502 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 29 1419 --- --- --- --- EGFLAM 133584 broad.mit.edu 37 5 38407191 38407192 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:38407191_38407192insG ENST00000322350.5 + 8 1436_1437 c.1090_1091insG c.(1090-1092)gggfs p.G364fs EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 364 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse p.S367fs*12(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGACTACACCTGGGGGGGCTCG 0.545 10 260 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:39202090_39202091insC ENST00000351578.6 - 2 1162_1163 c.972_973insG c.(970-975)ggcatgfs p.M325fs FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 325 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P325A(3)|p.P335A(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCCCATGGCCCCCCCACTG 0.540 11 116 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:52402939_52402940insG ENST00000361377.4 - 3 293_294 c.252_253insC c.(250-255)ccttagfs p.*85fs MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 17 390 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71490419 71490420 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:71490419_71490420insA ENST00000296755.7 + 5 1535_1536 c.1237_1238insA c.(1237-1239)aaafs p.K413fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 413 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CATTCTTTTCCAAAAAATGGGA 0.401 7 872 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 11 256 --- --- --- --- BHMT2 23743 broad.mit.edu 37 5 78378743 78378744 + Frame_Shift_Ins INS - - C rs139619947 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:78378743_78378744insC ENST00000255192.3 + 5 628_629 c.562_563insC c.(562-564)cccfs p.P188fs DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Frame_Shift_Ins_p.P124fs NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 188 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GCATGATATAACCCCCGGAGAA 0.480 8 1170 --- --- --- --- CEP120 153241 broad.mit.edu 37 5 122713212 122713213 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:122713212_122713213insT ENST00000306467.5 - 16 2517_2518 c.2213_2214insA c.(2212-2214)agafs p.R738fs CEP120_ENST00000328236.5_Frame_Shift_Ins_p.R738fs|CEP120_ENST00000306481.6_Frame_Shift_Ins_p.R712fs Q8N960 CE120_HUMAN centrosomal protein 120kDa 738 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ATTGCAGTTCCTTTTTTTCTCT 0.391 9 290 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 8 244 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:127648336_127648337insG ENST00000508053.1 - 43 5842_5843 c.4868_4869insC c.(4867-4869)cgtfs p.R1623fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs P35556 FBN2_HUMAN fibrillin 2 1623 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P1623P(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTATTGACAGGGGGGCATGT 0.505 9 905 --- --- --- --- SLC22A5 6584 broad.mit.edu 37 5 131722730 131722731 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:131722730_131722731insC ENST00000245407.3 + 5 1059_1060 c.838_839insC c.(838-840)cccfs p.P280fs SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 280 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CATCCCTGAGTCCCCCCGATGG 0.545 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 1081 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132432907 132432907 + Frame_Shift_Del DEL G G - rs143003242 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:132432907delG ENST00000304858.2 + 15 2147 c.1858delG c.(1858-1860)cafs p.A620fs NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 620 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAAGAACGCAGTGGAGGA 0.373 14 580 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137727193 137727194 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:137727193_137727194insC ENST00000314358.5 + 8 2072_2073 c.1872_1873insC c.(1870-1875)caccccfs p.HP624fs KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 624 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TATTTTTACAGCCCCCCAAATT 0.505 7 130 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137803131 137803132 + Frame_Shift_Ins INS - - C rs148475837 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:137803131_137803132insC ENST00000239938.4 + 2 1265_1266 c.993_994insC c.(991-996)acccccfs p.TP331fs NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 331 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGCAAGACGCCCCCCCACGA 0.649 24 345 --- --- --- --- PCDHA2 56146 broad.mit.edu 37 5 140176837 140176838 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:140176837_140176838insC ENST00000526136.1 + 1 2288_2289 c.2288_2289insC c.(2287-2289)gccfs p.A763fs PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.A763fs|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.A763fs NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGGGAGGACCCCCCCAAGA 0.619 9 127 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 8 529 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 22 351 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694153 141694154 + Frame_Shift_Ins INS - - G rs144353509 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:141694153_141694154insG ENST00000344120.4 - 3 775_776 c.589_590insC c.(589-591)gacfs p.D197fs SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 174 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCAACGTCCGGGGGGATGCA 0.609 Testicular Cancer, Familial Clustering of 7 318 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969651 145969652 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:145969651_145969652insC ENST00000394413.3 - 9 1760_1761 c.1190_1191insG c.(1189-1191)gaafs p.E397fs PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 397 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTCCGCTTGCCCCCCACACA 0.500 8 544 --- --- --- --- GABRA6 2559 broad.mit.edu 37 5 161116011 161116012 + Frame_Shift_Ins INS - - G rs143274925 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:161116011_161116012insG ENST00000523217.1 + 4 494_495 c.252_253insG c.(250-255)ttggggfs p.LG84fs GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 94 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTTGAAGTTTGGGGGGCCAAC 0.406 TCGA Ovarian(5;0.080) 14 865 --- --- --- --- WWC1 23286 broad.mit.edu 37 5 167850576 167850577 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:167850576_167850577insC ENST00000265293.4 + 11 1815_1816 c.1313_1314insC c.(1312-1314)accfs p.T438fs WWC1_ENST00000521089.1_Frame_Shift_Ins_p.T438fs NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 438 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCAGGCAGCAGCCCCGGATCCC 0.614 7 2448 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517344 171517345 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:171517344_171517345insT ENST00000176763.5 - 10 1919_1920 c.1576_1577insA c.(1576-1578)cctfs p.P526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCGCTTGAGGGTTTTTTTGTAC 0.515 13 772 --- --- --- --- KIAA1191 57179 broad.mit.edu 37 5 175774701 175774702 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr5:175774701_175774702insG ENST00000298569.4 - 9 1352_1353 c.819_820insC c.(817-822)ccagatfs p.D274fs KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 274 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) ATGTCCATCTTGGGGGGCTTCA 0.579 9 435 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:637793_637794insG ENST00000230449.4 - 2 160_161 c.25_26insC c.(25-27)tgtfs p.C9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 35 782 --- --- --- --- WRNIP1 56897 broad.mit.edu 37 6 2785481 2785482 + Frame_Shift_Ins INS - - G rs144391691 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:2785481_2785482insG ENST00000380769.4 + 7 1534_1535 c.1303_1304insG c.(1303-1305)gggfs p.G435fs WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.G630fs|WRNIP1_ENST00000380773.4_Frame_Shift_Ins_p.G655fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.G271fs Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 655 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TGAAGAGTTGAGGGGGGTAGAT 0.520 9 422 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 17 314 --- --- --- --- NRSN1 140767 broad.mit.edu 37 6 24145844 24145845 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:24145844_24145845insC ENST00000378491.4 + 4 559_560 c.258_259insC c.(256-261)gtccccfs p.VP86fs NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 86 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 GCTTTCTTGTGCCCCCCAAAAT 0.485 7 212 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 25 1181 --- --- --- --- GABBR1 2550 broad.mit.edu 37 6 29577143 29577144 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:29577143_29577144insG ENST00000377034.4 - 15 2056_2057 c.1721_1722insC c.(1720-1722)cgcfs p.R574fs GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 574 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) TCTGGTCAGCTGGGGGGGACCC 0.540 20 318 --- --- --- --- DDR1 780 broad.mit.edu 37 6 30867830 30867831 + Frame_Shift_Ins INS - - G rs146246499 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:30867830_30867831insG ENST00000361741.4 + 12 1492_1493 c.1297_1298insG c.(1297-1299)gggfs p.G433fs DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_3'UTR Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 0 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGTACATTTTTGGGGGGAGAGA 0.441 12 370 --- --- --- --- DDX39B 7919 broad.mit.edu 37 6 31500690 31500691 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31500690_31500691insG ENST00000417556.2 - 8 1411 c.e8-2 DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000458640.1_Splice_Site|DDX39B_ENST00000396172.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CTCCATTGGCTgggggggagga 0.579 19 353 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608570 31608571 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31608570_31608571insG ENST00000404765.2 - 21 3221_3222 c.2934_splice c.e21+1 p.A978_splice BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice P46379 BAG6_HUMAN BCL2-associated athanogene 6 948 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTCCCTTACCTGGGGGGGATCA 0.535 12 587 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608920 31608921 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31608920_31608921insC ENST00000404765.2 - 20 3036_3037 c.2747_2748insG c.(2746-2748)gcafs p.A916fs BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs P46379 BAG6_HUMAN BCL2-associated athanogene 6 886 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CCATCTGCTGTCCCCCCAAGCA 0.515 11 807 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 11 227 --- --- --- --- VARS 7407 broad.mit.edu 37 6 31759454 31759455 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31759454_31759455insG ENST00000375663.3 - 8 1472_1473 c.1032_1033insC c.(1030-1035)ccatgtfs p.C345fs VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 345 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCTGTCACATTGGGGGGTGGGA 0.564 11 505 --- --- --- --- CFB 629 broad.mit.edu 37 6 31911214 31911215 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31911214_31911215insG ENST00000456570.1 + 9 1073_1074 c.1018_1019insG c.(1018-1020)gggfs p.G340fs C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000556679.1_Frame_Shift_Ins_p.G340fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs P00751 CFAB_HUMAN complement factor B 512 VWFA. 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 AGAGACCTGCCGGGGGGCCCTC 0.589 7 299 --- --- --- --- SKIV2L 6499 broad.mit.edu 37 6 31937382 31937383 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:31937382_31937383insG ENST00000375394.2 + 28 3744_3745 c.3631_3632insG c.(3631-3633)gggfs p.G1211fs SKIV2L_ENST00000544581.1_Frame_Shift_Ins_p.G1018fs NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 1211 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCGCTCACTGCGGGGGGCAGCC 0.653 7 151 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32020535 32020536 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:32020535_32020536insC ENST00000375244.3 - 26 9227_9228 c.9026_9027insG c.(9025-9027)gctfs p.A3009fs TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A3007fs P22105 TENX_HUMAN tenascin XB 3054 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGGGCTCCAGGCCCCCCACGGT 0.663 7 160 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097085 32097086 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:32097085_32097086insC ENST00000375156.3 - 2 742_743 c.472_473insG c.(472-474)gctfs p.A158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CTCTATGAGCTCCCCCCAAGTT 0.589 12 404 --- --- --- --- COL11A2 1302 broad.mit.edu 37 6 33134298 33134299 + Frame_Shift_Ins INS - - G rs148262058 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:33134298_33134299insG ENST00000341947.2 - 60 4610_4611 c.4383_4384insC c.(4381-4386)ccgcctfs p.P1462fs COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.P1415fs|COL11A2_ENST00000374708.4_Frame_Shift_Ins_p.P1376fs|COL11A2_ENST00000361917.1_Frame_Shift_Ins_p.P1355fs|COL11A2_ENST00000395197.1_Frame_Shift_Ins_p.P1402fs|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.P1436fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Frame_Shift_Ins_p.P1381fs|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.P1441fs NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1462 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.P1461P(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACGGGGAGGCCGGGGGGACCTC 0.619 7 160 --- --- --- --- PHF1 5252 broad.mit.edu 37 6 33383636 33383637 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:33383636_33383637insC ENST00000374516.3 + 15 1736_1737 c.1465_1466insC c.(1465-1467)cccfs p.P489fs PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 489 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A489V(1)|p.H491fs*3(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCTAAAAGTGCCCCCCACTCG 0.530 10 555 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 19 918 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:35108559_35108560insG ENST00000311875.5 - 2 544_545 c.127_128insC c.(127-129)ggafs p.G43fs TCP11_ENST00000373979.2_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.G43fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000512012.1_Frame_Shift_Ins_p.G30fs|TCP11_ENST00000373974.4_Intron Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 30 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CTTGTCTTCCTGGGGGGGTCCT 0.639 8 236 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 38 832 --- --- --- --- MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:36068005_36068006insC ENST00000229795.3 + 9 1170_1171 c.723_724insC c.(721-726)acccccfs p.TP241fs MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 241 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGACAGGAACACCCCCCGCTTA 0.426 15 971 --- --- --- --- STK38 11329 broad.mit.edu 37 6 36463592 36463593 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:36463592_36463593insC ENST00000229812.7 - 14 1651_1652 c.1366_1367insG c.(1366-1368)aatfs p.N456fs NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 456 intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAAGGTATTGCCCCCCTTGCA 0.455 7 346 --- --- --- --- MOCS1 4337 broad.mit.edu 37 6 39874149 39874150 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:39874149_39874150insC ENST00000308559.7 - 10 1979_1980 c.1846_1847insG c.(1846-1848)cttfs p.L616fs MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 632 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CCGATGGAAGTCCCCCCGCTGA 0.579 12 616 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45514855 45514856 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:45514855_45514856insG ENST00000371438.1 + 8 1737_1738 c.1379_1380insG c.(1378-1380)cggfs p.R460fs RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 460 Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G462fs*22(1)|p.G530fs*22(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CCCATGGTGCCGGGGGGAGACC 0.545 7 319 --- --- --- --- MEP1A 4224 broad.mit.edu 37 6 46806746 46806747 + Frame_Shift_Ins INS - - G rs141276985 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:46806746_46806747insG ENST00000230588.4 + 14 2123_2124 c.2114_2115insG c.(2113-2115)aggfs p.R705fs NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 705 EGF-like. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.T705T(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TTCTTCTACACGGGGGAGCGCT 0.584 9 1801 --- --- --- --- GPR115 221393 broad.mit.edu 37 6 47680115 47680115 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:47680115delT ENST00000283303.2 + 5 581 c.323delT c.(322-324)ctfs p.L108fs GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 108 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCATCTCGCCTTTCTGTAGCA 0.408 293 192 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C rs76774128 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:55039410_55039411insC ENST00000370862.3 + 1 361_362 c.25_26insC c.(25-27)cccfs p.P9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTGGAGGACTCCCCCCCTTGT 0.564 27 468 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55113573 55113574 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:55113573_55113574insT ENST00000370862.3 + 2 696_697 c.360_361insT c.(358-363)tgttttfs p.CF120fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 120 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGAGACCTGGTTTTTTGGACA 0.431 11 646 --- --- --- --- DST 667 broad.mit.edu 37 6 56471391 56471392 + Frame_Shift_Del DEL AG AG - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:56471391_56471392delAG ENST00000370754.5 - 39 7934_7935 c.7935_7936delCT c.(7933-7938)agtafs p.SL2645fs DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Frame_Shift_Del_p.SL2467fs|DST_ENST00000370769.4_Frame_Shift_Del_p.SL2467fs|DST_ENST00000446842.2_Frame_Shift_Del_p.SL2141fs|DST_ENST00000361203.3_Frame_Shift_Del_p.SL2467fs Q03001 DYST_HUMAN dystonin 2467 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCACACTTAAGCTACCAACTG 0.386 10 112 --- --- --- --- KHDRBS2 202559 broad.mit.edu 37 6 62604601 62604602 + Frame_Shift_Ins INS - - C rs150391619 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:62604601_62604602insC ENST00000281156.4 - 6 1026_1027 c.748_749insG c.(748-750)accfs p.T250fs NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 250 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CACTGTTGGTGCCCCCCGGGCT 0.540 10 236 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75827102 75827103 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:75827102_75827103insT ENST00000322507.8 - 47 7823_7824 c.7514_7515insA c.(7513-7515)atcfs p.I2505fs COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.I1341fs NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2505 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ACTTACTTGAAGTGGCAGTTTC 0.381 15 155 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75866087 75866088 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:75866087_75866088insG ENST00000322507.8 - 15 3444_3445 c.3135_3136insC c.(3133-3138)cccagtfs p.S1046fs COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1046 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.T1046fs*7(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GAAGTGACTGTGGGGGGCACCT 0.490 10 245 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725846 87725847 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:87725846_87725847insC ENST00000305344.4 + 2 1497_1498 c.794_795insC c.(793-795)accfs p.T265fs HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCATCAGGATCCCCCCCTTCG 0.510 25 1104 --- --- --- --- SCML4 256380 broad.mit.edu 37 6 108076790 108076791 + Frame_Shift_Ins INS - - G rs75302347 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:108076790_108076791insG ENST00000369021.3 - 1 52_53 c.53_54insC c.(52-54)cttfs p.L18fs SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TCCAGTGGAATGGGGGGGTTCT 0.480 11 159 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 31 596 --- --- --- --- TSPYL1 7259 broad.mit.edu 37 6 116600787 116600788 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:116600787_116600788insC ENST00000368608.3 - 1 278_279 c.206_207insG c.(205-207)ggtfs p.G69fs DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 69 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CCTGGGGTACGCCCCCCTCCTC 0.703 7 346 --- --- --- --- RFX6 222546 broad.mit.edu 37 6 117250016 117250017 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:117250016_117250017insC ENST00000332958.2 + 18 2509_2510 c.2493_2494insC c.(2491-2496)ctccccfs p.LP831fs NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 831 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCGTTCACTGCCCCCCTACAG 0.455 16 848 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 10 223 --- --- --- --- PTPRK 5796 broad.mit.edu 37 6 128388793 128388794 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:128388793_128388794insG ENST00000368227.3 - 12 2393_2394 c.2027_2028insC c.(2026-2028)cggfs p.R676fs PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.R676fs|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.R676fs Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 676 Fibronectin type-III 4. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GTAGGTTTCCCGGGGGGAGTTC 0.545 9 280 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129419357 129419358 + Frame_Shift_Ins INS - - C rs143680577 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:129419357_129419358insC ENST00000421865.2 + 4 485_486 c.436_437insC c.(436-438)cccfs p.P146fs NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 146 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGCAGCTAACTCCCCCCGGCCT 0.446 8 174 --- --- --- --- CTGF 1490 broad.mit.edu 37 6 132270567 132270568 + Frame_Shift_Ins INS - - G rs15960 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:132270567_132270568insG ENST00000367976.3 - 5 1086_1087 c.886_887insC c.(886-888)cagfs p.Q296fs NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 296 CTCK.|Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) GGTGGTTCTGTGGGGGGTGCAG 0.530 19 967 --- --- --- --- TCF21 6943 broad.mit.edu 37 6 134210862 134210863 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:134210862_134210863insC ENST00000367882.4 + 1 587_588 c.327_328insC c.(325-330)gtccccfs p.VP109fs RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Frame_Shift_Ins_p.VP109fs NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 109 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TGCCCTGGGTGCCCCCCGACAC 0.644 8 347 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264758 146264759 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:146264758_146264759insT ENST00000367503.3 - 9 2156_2157 c.1758_1759insA c.(1756-1761)aagaaafs p.K587fs SHPRH_ENST00000367505.2_Frame_Shift_Ins_p.K587fs|SHPRH_ENST00000438092.2_Frame_Shift_Ins_p.K587fs|SHPRH_ENST00000275233.7_Frame_Shift_Ins_p.K587fs NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 587 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGACTTTTTCCTTTTTTTGTGG 0.371 9 374 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 11 930 --- --- --- --- PRKAR1B 5575 broad.mit.edu 37 7 720280 720281 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:720280_720281insG ENST00000406797.1 - 3 434_435 c.260_261insC c.(259-261)caafs p.Q87fs PRKAR1B_ENST00000544935.1_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000360274.4_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000403562.1_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000537384.1_Frame_Shift_Ins_p.Q87fs NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 87 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCACAGGGTTCGGGGGGGTGGG 0.619 8 88 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:2404085_2404086insG ENST00000360876.4 + 6 1134_1135 c.1078_1079insG c.(1078-1080)gggfs p.G360fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 360 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATTGCTCTATGGGGGGGAGAG 0.475 12 163 --- --- --- --- ETV1 2115 broad.mit.edu 37 7 13975472 13975473 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:13975472_13975473insG ENST00000343495.5 - 7 1098_1099 c.360_361insC c.(358-363)cccaccfs p.T121fs ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs P50549 ETV1_HUMAN ets variant 1 139 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGGATGGTGTGGGGGGGTTGG 0.530 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 13 359 --- --- --- --- GPNMB 10457 broad.mit.edu 37 7 23306134 23306135 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:23306134_23306135insT ENST00000381990.2 + 7 1214_1215 c.1053_1054insT c.(1051-1056)ccgaccfs p.T352fs GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.T294fs|GPNMB_ENST00000258733.4_Splice_Site|GPNMB_ENST00000539136.1_Splice_Site NM_001005340.1|NM_002510.2 NP_001005340.1|NP_002501.1 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 352 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CAAACACCCCAGGACCTGCTGG 0.386 7 108 --- --- --- --- HOXA9 3205 broad.mit.edu 37 7 27203289 27203289 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:27203289delT ENST00000343483.6 - 2 824 c.752delA c.(751-753)agfs p.K251fs RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 251 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 GAACCAGATCTTGACCTGCCT 0.483 T """NUP98, MSI2""" AML* 7 495 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378634 31378635 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:31378634_31378635insT ENST00000297142.3 - 2 570_571 c.248_249insA c.(247-249)aacfs p.N83fs NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 83 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTTTGTTGTCTTTTTTTTCCT 0.520 8 1100 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 10 223 --- --- --- --- EPDR1 54749 broad.mit.edu 37 7 37988587 37988588 + Frame_Shift_Ins INS - - T rs145911941 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:37988587_37988588insT ENST00000199448.4 + 2 794_795 c.415_416insT c.(415-417)cggfs p.R139fs EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 139 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 CCAGTACTCCATCGGGGGGCCT 0.510 13 592 --- --- --- --- NSUN5P1 155400 broad.mit.edu 37 7 75045496 75045497 + RNA INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:75045496_75045497insG ENST00000393633.2 + 0 4280 large_intestine(1)|lung(1) 2 AGGGTCGTGGAGGGGGGGGATG 0.653 7 87 --- --- --- --- GRM3 2913 broad.mit.edu 37 7 86415681 86415682 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:86415681_86415682insC ENST00000361669.2 + 3 1672_1673 c.573_574insC c.(571-576)gtccccfs p.VP191fs GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 191 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAGGACCGTGCCCCCCGACTT 0.564 10 263 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98592294 98592295 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:98592294_98592295insC ENST00000359863.4 + 66 10299_10300 c.10090_10091insC c.(10090-10092)cccfs p.P3364fs TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3364 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTAAAATCACCCCCCACACT 0.540 12 641 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98609744 98609745 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:98609744_98609745insA ENST00000359863.4 + 72 11555_11556 c.11346_11347insA c.(11344-11349)caaaaafs p.QK3782fs TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.QK3753fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.QK3771fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3782 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTGCTTGGCACAAAAAAACACA 0.550 7 635 --- --- --- --- GAL3ST4 79690 broad.mit.edu 37 7 99757596 99757597 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:99757596_99757597insG ENST00000360039.4 - 4 1807_1808 c.1415_1416insC c.(1414-1416)cacfs p.H472fs GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.H472fs|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.H410fs|GAL3ST4_ENST00000411994.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 472 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGAGACGGTAGGGGGGAACTG 0.540 8 660 --- --- --- --- SPDYE3 441272 broad.mit.edu 37 7 99912173 99912174 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:99912173_99912174insC ENST00000332397.6 + 6 1185_1186 c.1001_1002insC c.(1000-1002)accfs p.T334fs SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 334 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTAGATCCCAGCCCCCCGCGTA 0.569 11 277 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 24 316 --- --- --- --- EPHB4 2050 broad.mit.edu 37 7 100404119 100404120 + Frame_Shift_Ins INS - - CTGA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100404119_100404120insCTGA ENST00000358173.3 - 14 2874_2875 c.2406_2407insTCAG c.(2404-2409)gacctgfs p.L803fs EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.L803fs NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 803 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TAACTCCAGGCATCACTGGCGG 0.554 33 994 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100479331_100479332insG ENST00000388793.4 + 4 523_524 c.303_304insG c.(301-306)gcggggfs p.AG101fs SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 101 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TGCCCTATGCTGGGGGGGGTGG 0.609 19 156 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100802404_100802405insG ENST00000337619.5 + 4 474_475 c.356_357insG c.(355-357)aggfs p.R119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 14 150 --- --- --- --- NAT16 375607 broad.mit.edu 37 7 100817873 100817874 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100817873_100817874insC ENST00000300303.2 - 2 453_454 c.215_216insG c.(214-216)gatfs p.D72fs NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 72 N-acetyltransferase. N-acetyltransferase activity CGCCGTAGATGCCCCCCGAGAT 0.678 7 133 --- --- --- --- PLOD3 8985 broad.mit.edu 37 7 100856125 100856126 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:100856125_100856126insC ENST00000223127.3 - 8 1274_1275 c.876_877insG c.(874-879)ggagccfs p.A293fs NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 293 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCACCTGCCCCCCCGGGA 0.673 13 120 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107572729 107572730 + Frame_Shift_Ins INS - - C rs57244800 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:107572729_107572730insC ENST00000393561.1 - 26 4537_4538 c.4353_4354insG c.(4351-4356)ggctggfs p.W1452fs LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR P07942 LAMB1_HUMAN laminin, beta 1 1428 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACAGCCAGGCCCCCCACACT 0.584 11 386 --- --- --- --- DOCK4 9732 broad.mit.edu 37 7 111418424 111418425 + Splice_Site INS - - GA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:111418424_111418425insGA ENST00000428084.1 - 36 3858_3859 c.3585_splice c.e36-1 p.L1196_splice DOCK4_ENST00000437633.1_Splice_Site_p.L1187_splice|DOCK4_ENST00000494651.2_Splice_Site_p.L70_splice Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1187 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CTTATAGAAGTTCTGTAAAAAA 0.381 14 220 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131195812 131195813 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:131195812_131195813insC ENST00000541194.1 - 2 743_744 c.486_487insG c.(484-489)ggaaagfs p.GK162fs PODXL_ENST00000378555.3_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.GK160fs NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 160 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.K161E(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) TGGCTGCTTTTCCCCCCAGAGT 0.525 7 542 --- --- --- --- KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:142639979_142639980insC ENST00000355265.2 - 17 2397_2398 c.1923_1924insG c.(1921-1926)ggtagcfs p.S642fs NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 642 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.500 17 950 --- --- --- --- OR2A25 392138 broad.mit.edu 37 7 143771314 143771315 + Translation_Start_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:143771314_143771315insG ENST00000408898.2 + 0 40_41 NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TACAGGGAAATGGGGGGAAATC 0.441 9 209 --- --- --- --- AGAP3 116988 broad.mit.edu 37 7 150814456 150814457 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr7:150814456_150814457insG ENST00000397238.2 + 4 478 c.e4-1 AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GCTCTGTCCTAGGGGGGCGGTT 0.579 9 390 --- --- --- --- MYOM2 9172 broad.mit.edu 37 8 2088682 2088683 + Frame_Shift_Ins INS - - G rs34620424 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:2088682_2088683insG ENST00000262113.4 + 33 3978_3979 c.3837_3838insG c.(3835-3840)atggggfs p.MG1279fs MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1279 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATATGAGAATCGGGGGGAGTGA 0.446 13 668 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 431 --- --- --- --- SLC18A1 6570 broad.mit.edu 37 8 20004787 20004788 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:20004787_20004788insG ENST00000440926.1 - 16 1915_1916 c.1445_1446insC c.(1444-1446)cgcfs p.R482fs SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 482 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CTTCCTTTGCCGGGGGGCTCCG 0.500 12 610 --- --- --- --- SORBS3 10174 broad.mit.edu 37 8 22414410 22414411 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:22414410_22414411insC ENST00000240123.7 + 4 786_787 c.403_404insC c.(403-405)cccfs p.P135fs SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.P135fs NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 135 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CATGCCCATTGCCCCCCGATCC 0.634 12 421 --- --- --- --- DPYSL2 1808 broad.mit.edu 37 8 26513183 26513184 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:26513183_26513184insC ENST00000311151.5 + 14 2092_2093 c.1680_1681insC c.(1678-1683)gcccccfs p.AP560fs DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 560 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GTATCGTGGCGCCCCCCGGTGG 0.644 OREG0018659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 445 --- --- --- --- INTS9 55756 broad.mit.edu 37 8 28633353 28633354 + Frame_Shift_Ins INS - - G rs148560235 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:28633353_28633354insG ENST00000416984.2 - 13 1781_1782 c.1422_1423insC c.(1420-1425)ccccatfs p.H475fs INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 496 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) TAGGACATGGCGGGGGGCTGGC 0.619 7 301 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41834603 41834604 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:41834603_41834604insC ENST00000396930.3 - 8 1828_1829 c.1285_1286insG c.(1285-1287)agtfs p.S429fs KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.S429fs NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 429 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GTCCACCACTTCCCCCCGAGCT 0.465 7 292 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41836183 41836184 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:41836183_41836184insT ENST00000396930.3 - 7 1562_1563 c.1019_1020insA c.(1018-1020)aagfs p.K340fs KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.K340fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.K340fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.K340fs NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 340 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTTTAACCTGTTTTTTGGACG 0.401 9 629 --- --- --- --- POMK 84197 broad.mit.edu 37 8 42958728 42958729 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:42958728_42958729insC ENST00000331373.5 + 4 292_293 c.37_38insC c.(37-39)cccfs p.P13fs NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 13 integral to membrane ATP binding|protein kinase activity GAGAGGCCTCGCCCCCCGAGAG 0.540 10 136 --- --- --- --- PLAG1 5324 broad.mit.edu 37 8 57078931 57078932 + Frame_Shift_Ins INS - - G rs144552372 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:57078931_57078932insG ENST00000316981.3 - 5 1852_1853 c.1373_1374insC c.(1372-1374)ccafs p.P458fs PLAG1_ENST00000423799.2_Frame_Shift_Ins_p.P376fs|PLAG1_ENST00000429357.2_Frame_Shift_Ins_p.P458fs NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 458 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. P -> T (in dbSNP:rs35883156). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CCTGTGTTTGTGGGGGGAGCTG 0.490 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 13 450 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 7 143 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70488248 70488249 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:70488248_70488249insG ENST00000260128.4 + 6 933_934 c.216_217insG c.(214-219)caggggfs p.QG72fs SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 72 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) TTATGGAACATGGGGGGGCCAC 0.495 12 130 --- --- --- --- JPH1 56704 broad.mit.edu 37 8 75156987 75156988 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:75156987_75156988insG ENST00000342232.4 - 4 1721_1722 c.1681_1682insC c.(1681-1683)gcafs p.A561fs JPH1_ENST00000518195.1_5'UTR NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 561 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TGGAGGGTGCTGGGGGGCGTTC 0.594 8 165 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92261931 92261932 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:92261931_92261932insC ENST00000276609.3 + 2 291_292 c.52_53insC c.(52-54)cccfs p.P18fs SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.P18fs|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.P18fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 18 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CAAGATGCATACCCCCCAGTGT 0.396 7 256 --- --- --- --- POP1 10940 broad.mit.edu 37 8 99168467 99168468 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:99168467_99168468insA ENST00000401707.2 + 15 2328_2329 c.2247_2248insA c.(2245-2250)ccaaaafs p.PK749fs POP1_ENST00000349693.3_Frame_Shift_Ins_p.PK749fs NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 749 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTCCCATGCCTAAAAAAACTCA 0.510 8 961 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 11 132 --- --- --- --- MTBP 27085 broad.mit.edu 37 8 121457738 121457739 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:121457738_121457739insG ENST00000305949.1 + 1 73_74 c.28_29insG c.(28-30)gggfs p.G10fs NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 10 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GCTGGTGATCTGGGGGGAAGGA 0.589 9 246 --- --- --- --- MIR1208 100302281 broad.mit.edu 37 8 129162432 129162433 + RNA INS - - G rs2648841 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:129162432_129162433insG ENST00000408334.1 + 0 71_72 NR_031613.1 ACCACTGTGGTGGGGGGGAGTG 0.564 8 221 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131124498 131124499 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr8:131124498_131124499insG ENST00000357668.1 - 23 2269_2270 c.2242_2243insC c.(2242-2244)ggafs p.G748fs ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.G748fs Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 748 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CAGCTTGTCCTGGGGGGAGATG 0.535 8 379 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 10 1330 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14823286 14823287 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:14823286_14823287insG ENST00000380881.4 - 14 3026_3027 c.2211_2212insC c.(2209-2214)cctgcafs p.A738fs FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 737 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ATGTCTTGCATGGGGGGCATGT 0.441 20 1547 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16436374 16436375 + Frame_Shift_Ins INS - - G rs116528562 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:16436374_16436375insG ENST00000380672.4 - 6 1874_1875 c.1817_1818insC c.(1816-1818)cccfs p.P606fs BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 606 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CAGAGGGTGGCGGGGGGTGCTG 0.564 11 642 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27172694 27172695 + Frame_Shift_Del DEL AC AC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:27172694_27172695delAC ENST00000380036.4 + 5 1151_1152 c.709_710delAC c.(709-711)tfs p.T237fs TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 237 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCATGAAGATACTGGAGAATGC 0.436 22 178 --- --- --- --- FAM219A 203259 broad.mit.edu 37 9 34401027 34401028 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:34401027_34401028insG ENST00000445726.1 - 6 798_799 c.492_493insC c.(490-495)ccagtcfs p.V165fs FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs NM_001184940.1|NM_001184941.1 NP_001171869.1|NP_001171870.1 Q8IW50 CI025_HUMAN family with sequence similarity 219, member A 165 TTCACGGACTTGGGGGGGATGA 0.644 7 122 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 12 231 --- --- --- --- NPR2 4882 broad.mit.edu 37 9 35809224 35809225 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:35809224_35809225insG ENST00000342694.2 + 21 3313_3314 c.3058_3059insG c.(3058-3060)gggfs p.G1020fs SPAG8_ENST00000340291.2_Intron NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 1020 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GCTAGAGCTTCGGGGGGATGTG 0.559 10 407 --- --- --- --- SPAG8 26206 broad.mit.edu 37 9 35809952 35809953 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:35809952_35809953insC ENST00000484764.1 - 7 1456_1457 c.1416_1417insG c.(1414-1419)gggaatfs p.N473fs SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.N481fs Q99932 SPAG8_HUMAN sperm associated antigen 8 0 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GGAGTCATTCTCCCCCCTCCAC 0.505 9 555 --- --- --- --- GLIPR2 152007 broad.mit.edu 37 9 36147846 36147847 + Frame_Shift_Ins INS - - C rs60088684 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:36147846_36147847insC ENST00000377960.4 + 2 111_112 c.77_78insC c.(76-78)gccfs p.A26fs GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.A26fs NM_022343.2 NP_071738.1 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 26 extracellular region|Golgi membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 AAGCACGGCGTCCCCCCACTGA 0.540 9 603 --- --- --- --- RNF38 152006 broad.mit.edu 37 9 36353239 36353240 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:36353239_36353240insG ENST00000357058.3 - 7 1355_1356 c.749_750insC c.(748-750)cacfs p.H250fs RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 333 Pro-rich. zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) GAGGTAATGTTGGGGGGTGGGC 0.460 9 398 --- --- --- --- APBA1 320 broad.mit.edu 37 9 72047492 72047493 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:72047492_72047493insG ENST00000265381.4 - 12 2623_2624 c.2401_2402insC c.(2401-2403)cgafs p.R801fs NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 801 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GATCTTCTCGTGGGGGGTGGCC 0.624 7 302 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95649123 95649124 + RNA INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:95649123_95649124insC ENST00000473204.1 + 0 2259 GCAATCTAGCACCCCCCAAAAG 0.540 9 399 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98209616 98209617 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:98209616_98209617insG ENST00000430669.2 - 23 4308_4309 c.3723_3724insC c.(3721-3726)ccgagafs p.R1242fs PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1307fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1242fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1308fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1157fs Q13635 PTC1_HUMAN patched 1 1308 E -> K (in squamous cell carcinoma). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.R1308G(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAGCCTTCTCTGGGGGGGTCCC 0.663 7 74 --- --- --- --- CCDC180 100499483 broad.mit.edu 37 9 100082417 100082418 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:100082417_100082418insC ENST00000375202.2 + 25 2573_2574 c.1221_1222insC c.(1219-1224)ctccccfs p.LP407fs CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs coiled-coil domain containing 180 GTGACCTCCTGCCCCCCAGTTA 0.505 16 931 --- --- --- --- TSTD2 158427 broad.mit.edu 37 9 100389762 100389763 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:100389762_100389763insG ENST00000341170.4 - 2 464_465 c.82_83insC c.(82-84)gagfs p.E28fs TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 28 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AATAAGACTCATATCTTTTAAA 0.376 16 331 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 22 359 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 10 647 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 118982329 118982330 + Frame_Shift_Ins INS - - C rs34371232 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:118982329_118982330insC ENST00000328252.3 + 5 2401_2402 c.2032_2033insC c.(2032-2034)cccfs p.P678fs PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 678 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTTGCCCTCGCCCCCCAAGTT 0.574 18 635 --- --- --- --- CDK5RAP2 55755 broad.mit.edu 37 9 123169393 123169394 + Frame_Shift_Del DEL CT CT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:123169393_123169394delCT ENST00000349780.4 - 32 5038_5039 c.4859_4860delAG c.(4858-4860)afs p.K1620fs CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1620 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CCAGCTGTTCCTTGAGCCTGCT 0.594 37 682 --- --- --- --- RAPGEF1 2889 broad.mit.edu 37 9 134504526 134504527 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr9:134504526_134504527insG ENST00000372195.1 - 7 1098_1099 c.855_856insC c.(853-858)ccagccfs p.A286fs RAPGEF1_ENST00000372189.3_Frame_Shift_Ins_p.A269fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.A287fs Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 269 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) AGAGGAGGCTTGGGGGGCGCGA 0.540 8 320 --- --- --- --- PRKCQ 5588 broad.mit.edu 37 10 6506351 6506352 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:6506351_6506352insA ENST00000263125.5 - 13 1467_1468 c.1368_1369insT c.(1366-1371)tttgatfs p.D457fs PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.D332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.D457fs NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 457 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TACTCCATCACAAAAAAGAGGT 0.401 13 1167 --- --- --- --- TAF3 83860 broad.mit.edu 37 10 8006928 8006929 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:8006928_8006929insC ENST00000344293.5 + 3 1661_1662 c.1455_1456insC c.(1453-1458)atccccfs p.IP485fs NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 485 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CTTCAAATATGCCCCCCAACTT 0.490 7 267 --- --- --- --- PHYH 5264 broad.mit.edu 37 10 13325834 13325835 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:13325834_13325835insC ENST00000396920.3 - 7 1036_1037 c.632_633insG c.(631-633)ggtfs p.G211fs PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 228 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTTTGTTAACTCCCCCCTAGAA 0.465 13 786 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:13696451_13696452insG ENST00000357447.2 - 23 3382_3383 c.3014_3015insC c.(3013-3015)cagfs p.Q1005fs FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 1005 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGGGGCTGCTTGGGGGGGTGGC 0.535 18 431 --- --- --- --- YME1L1 10730 broad.mit.edu 37 10 27437919 27437920 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:27437919_27437920insT ENST00000326799.3 - 2 231_232 c.83_84insA c.(82-84)aacfs p.N28fs YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 28 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 AAACAGAAGTGTTTTTTGGTGT 0.381 8 724 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:31809832_31809833insG ENST00000446923.2 + 7 1912_1913 c.1521_1522insG c.(1519-1524)gaggggfs p.EG507fs ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 523 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 19 259 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51820739 51820740 + RNA INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:51820739_51820740insG ENST00000456967.1 - 0 1397 NR_038275.1 TTGCCAATCCTGGGGGGCTTCC 0.485 7 299 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:75560463_75560464insC ENST00000604729.1 + 24 5365_5366 c.5068_5069insC c.(5068-5070)cccfs p.P1690fs ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs zinc finger, SWIM-type containing 8 CTTCTCCCGCTCCCCCCCCTAC 0.604 13 146 --- --- --- --- ZFYVE27 118813 broad.mit.edu 37 10 99504492 99504499 + Frame_Shift_Del DEL GGTACTCA GGTACTCA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:99504492_99504499delGGTACTCA ENST00000393677.4 + 4 479_486 c.275_282delGGTACTCA c.(274-282)tfs p.WYS92fs ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 92 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GCAGGTGCATGGTACTCAGTAGGTGCCC 0.577 8 134 --- --- --- --- ZFYVE27 118813 broad.mit.edu 37 10 99510176 99510177 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:99510176_99510177insG ENST00000393677.4 + 7 957_958 c.753_754insG c.(751-756)gtggggfs p.VG251fs ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 251 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) CACCAGATGTTGGGGGGAAGGA 0.599 26 1220 --- --- --- --- HPS1 3257 broad.mit.edu 37 10 100189562 100189563 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:100189562_100189563insC ENST00000325103.6 - 9 1085_1086 c.852_853insG c.(850-855)gggctcfs p.L285fs HPS1_ENST00000338546.5_Frame_Shift_Ins_p.L285fs|HPS1_ENST00000361490.4_Frame_Shift_Ins_p.L285fs|HPS1_ENST00000467246.1_Intron NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 285 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) TCTGCAGAGCTCCCCCCAGTTG 0.688 Hermansky-Pudlak syndrome 10 595 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 17 903 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265153 102265154 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:102265153_102265154insG ENST00000370345.3 - 10 1240_1241 c.1143_1144insC c.(1141-1146)ccaatgfs p.M382fs SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 382 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAATCCATTTGGGGGGTTTTT 0.490 10 817 --- --- --- --- NPM3 10360 broad.mit.edu 37 10 103541502 103541503 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:103541502_103541503insC ENST00000370110.5 - 5 549_550 c.527_528insG c.(526-528)gagfs p.E176fs NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 176 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GCTAGGGCCTGCCCCCCTGCTT 0.564 OREG0020469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 1617 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:103901076_103901077insC ENST00000278070.2 + 5 2850_2851 c.2811_2812insC c.(2809-2814)ctccccfs p.LP937fs PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCACC 0.604 21 105 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103908247 103908248 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:103908247_103908248insC ENST00000278070.2 + 10 4558_4559 c.4519_4520insC c.(4519-4521)cccfs p.P1507fs PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P474fs|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P1243fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1507 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ACGATCCCCATCCCCCCGCCGG 0.554 9 722 --- --- --- --- PSD 5662 broad.mit.edu 37 10 104164414 104164415 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:104164414_104164415insG ENST00000020673.5 - 15 3151_3152 c.2625_2626insC c.(2623-2628)cctcccfs p.P876fs PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 876 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCAGCTGGGAAGGGGGGCGCAG 0.609 7 555 --- --- --- --- ABLIM1 3983 broad.mit.edu 37 10 116207654 116207655 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:116207654_116207655insG ENST00000369252.4 - 15 1840_1841 c.1539_1540insC c.(1537-1542)cccattfs p.I514fs ABLIM1_ENST00000369253.2_Frame_Shift_Ins_p.I197fs|ABLIM1_ENST00000277895.5_Frame_Shift_Ins_p.I574fs|ABLIM1_ENST00000392952.3_Frame_Shift_Ins_p.I251fs|ABLIM1_ENST00000369266.3_Frame_Shift_Ins_p.I251fs|ABLIM1_ENST00000533213.2_Frame_Shift_Ins_p.I514fs NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 574 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) ACAGCAAATGAGGGGGGACCAG 0.490 9 422 --- --- --- --- BNIP3 664 broad.mit.edu 37 10 133784369 133784370 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr10:133784369_133784370insG ENST00000540159.1 - 4 503_504 c.389_splice c.e4+1 p.G130_splice BNIP3_ENST00000368636.4_Splice_Site_p.G130_splice Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 3 130 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CACACTCACTTGGGGGGAATAT 0.475 8 308 --- --- --- --- CARS 833 broad.mit.edu 37 11 3023250 3023251 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:3023250_3023251insG ENST00000397114.3 - 22 2407_2408 c.2031_2032insC c.(2029-2034)ccgtgafs p.*678fs CARS_ENST00000401769.3_Frame_Shift_Ins_p.*701fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 688 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) AACATCTCACTGGGGGGAATCT 0.495 T ALK ALCL 9 1015 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4409704 4409705 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:4409704_4409705insT ENST00000254436.7 - 4 672_673 c.560_561insA c.(559-561)attfs p.I187fs TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.I187fs NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 187 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CAACCAGGAAGTTTTTTTGCTG 0.485 10 1117 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:5602545_5602546insC ENST00000345043.2 + 1 439_440 c.439_440insC c.(439-441)cccfs p.P147fs HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.510 7 776 --- --- --- --- OR56B1 387748 broad.mit.edu 37 11 5758618 5758619 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:5758618_5758619insC ENST00000317121.3 + 1 938_939 c.872_873insC c.(871-873)accfs p.T291fs TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CACAACATCATCCCCCCTTCCC 0.406 10 1867 --- --- --- --- OR56B4 196335 broad.mit.edu 37 11 6129868 6129869 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:6129868_6129869insC ENST00000316529.3 + 1 955_956 c.860_861insC c.(859-861)accfs p.T287fs RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACAATGTCATCCCCCCTGCAC 0.510 14 679 --- --- --- --- C11orf42 160298 broad.mit.edu 37 11 6226858 6226859 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:6226858_6226859insC ENST00000316375.2 + 1 63_64 c.13_14insC c.(13-15)cccfs p.P5fs NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 5 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTGGTGGGTACCCCCAACCTG 0.584 15 629 --- --- --- --- FAM160A2 84067 broad.mit.edu 37 11 6244063 6244064 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:6244063_6244064insC ENST00000265978.4 - 5 1358_1359 c.1000_1001insG c.(1000-1002)catfs p.H334fs FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H334fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H334fs NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 334 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGACCCATGACAGGCACCAGG 0.545 17 752 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6655045 6655046 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:6655045_6655046insG ENST00000299441.3 - 4 2603_2604 c.2192_2193insC c.(2191-2193)cctfs p.P731fs RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 731 Cadherin 7. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTAAAAAGTGGGGGGCTGTT 0.604 7 306 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10820934 10820935 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:10820934_10820935insG ENST00000526148.1 - 20 2871_2872 c.2361_2362insC c.(2359-2364)ccgcgafs p.R788fs EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 788 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.S788R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCATCGCTGGGGGGGTTTA 0.406 7 105 --- --- --- --- PIK3C2A 5286 broad.mit.edu 37 11 17191096 17191097 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:17191096_17191097insT ENST00000265970.7 - 1 191_192 c.192_193insA c.(190-195)aacacafs p.NT64fs PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 64 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TAAACCTGTGCTTTTTTTCTGG 0.401 8 1197 --- --- --- --- HPS5 11234 broad.mit.edu 37 11 18303689 18303690 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:18303689_18303690insG ENST00000396253.3 - 21 3256_3257 c.2794_2795insC c.(2794-2796)ggafs p.G932fs HPS5_ENST00000537258.1_Frame_Shift_Ins_p.G153fs|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs|HPS5_ENST00000352460.3_5'UTR NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 1046 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TAGTGACTCCTGGGGGGCTGGC 0.554 Hermansky-Pudlak syndrome 8 182 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20067148 20067149 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:20067148_20067149insA ENST00000396085.1 + 14 4195_4196 c.3834_3835insA c.(3832-3837)tcgtccfs p.S1279fs NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.S1302fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1302 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGCCTGTGTCCAGTCCGGCTCA 0.545 11 176 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30032939 30032940 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:30032939_30032940insC ENST00000328224.6 - 2 2519_2520 c.1286_1287insG c.(1285-1287)gggfs p.G429fs NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 429 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.G429fs*53(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GACCATTGCCACCCCCCTGTTG 0.500 10 868 --- --- --- --- PAX6 5080 broad.mit.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:31812316_31812317insG ENST00000419022.1 - 13 1634_1635 c.1166_1167insC c.(1165-1167)ccafs p.P389fs PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 375 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TCTGCATATGTGGGGGGGTGTA 0.589 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 9 101 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 7 620 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 52 798 --- --- --- --- ACCSL 390110 broad.mit.edu 37 11 44080010 44080011 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:44080010_44080011insT ENST00000378832.1 + 12 1526 c.e12+1 NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CTTGAAAAAGGTGTGTTCTGGG 0.535 17 283 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46784654 46784655 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:46784654_46784655insA ENST00000529230.1 - 30 3808_3809 c.3762_3763insT c.(3760-3765)ttacacfs p.LH1254fs CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.LH1254fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1254 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GTATTGGTGTCAAAAAACCTCA 0.361 7 817 --- --- --- --- C11orf49 79096 broad.mit.edu 37 11 47074000 47074001 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:47074000_47074001insC ENST00000395460.2 + 3 249_250 c.211_212insC c.(211-213)cccfs p.P71fs C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 71 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 CGTCCAAGCCACCCCCCACAAT 0.441 7 289 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47594882 47594883 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:47594882_47594883insC ENST00000533290.1 - 3 1945_1946 c.1231_1232insG c.(1231-1233)ggafs p.G411fs KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.G402fs|KBTBD4_ENST00000526005.1_Frame_Shift_Ins_p.G386fs|KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.G386fs|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 386 p.E386fs*4(2) 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 ATCATTCTCCTCCCCCCCTAGT 0.515 44 586 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 11 1097 --- --- --- --- OR5M1 390168 broad.mit.edu 37 11 56380547 56380550 + Frame_Shift_Del DEL CAGA CAGA - rs71931749 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:56380547_56380550delCAGA ENST00000526538.1 - 1 428_431 c.429_432delTCTG c.(427-432)tgfs p.CL143fs NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GGATAGTGACCAGACAGACACAGA 0.436 25 290 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 13 324 --- --- --- --- ZDHHC5 25921 broad.mit.edu 37 11 57464257 57464258 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:57464257_57464258insC ENST00000287169.3 + 10 2396_2397 c.1034_1035insC c.(1033-1035)accfs p.T345fs ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 345 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 GCCAAGGACAGCCCCCCGACAC 0.515 12 284 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 11 569 --- --- --- --- OR4D11 219986 broad.mit.edu 37 11 59271497 59271498 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:59271497_59271498insG ENST00000313253.1 + 1 449_450 c.449_450insG c.(448-450)aggfs p.R150fs NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GCCTCTTGGATGGGGGGCTTTG 0.550 8 616 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 15 441 --- --- --- --- RASGRP2 10235 broad.mit.edu 37 11 64507637 64507638 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:64507637_64507638insG ENST00000377494.1 - 5 1294 c.e5-2 RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAGGTAGGGCTGGGGGGGCAGG 0.569 8 90 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C rs142447712 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:66272154_66272155insC ENST00000532677.1 + 17 2408_2409 c.2007_2008insC c.(2005-2010)gcccccfs p.AP669fs DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 650 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCACTGATGCGCCCCCCGAGTG 0.579 10 278 --- --- --- --- CCS 9973 broad.mit.edu 37 11 66366957 66366958 + Frame_Shift_Ins INS - - G rs61731811 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:66366957_66366958insG ENST00000533244.1 + 4 719_720 c.278_279insG c.(277-279)cggfs p.R93fs CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 93 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 GTGGCCATCCTGGGGGGGCCTG 0.644 9 122 --- --- --- --- ARRB1 408 broad.mit.edu 37 11 74988494 74988495 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:74988494_74988495insG ENST00000420843.2 - 9 716 c.e9-2 ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 GTAATAGATCTGGGGGGCATAA 0.550 8 753 --- --- --- --- RDX 5962 broad.mit.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:110104136_110104137insG ENST00000343115.4 - 13 1731_1732 c.1412_1413insC c.(1411-1413)cccfs p.P471fs RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 471 Glu-rich.|Poly-Pro. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTGGAGGTGGAGGGGGGGCAGA 0.431 19 556 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 13 483 --- --- --- --- TTC12 54970 broad.mit.edu 37 11 113210159 113210160 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:113210159_113210160insG ENST00000393020.1 + 10 1194_1195 c.789_790insG c.(787-792)gcggggfs p.AG263fs TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs|TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 263 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTTCTATGCTGGGGGGATTGA 0.500 8 349 --- --- --- --- CLDN25 644672 broad.mit.edu 37 11 113650550 113650551 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:113650550_113650551insG ENST00000453129.2 + 1 82_83 c.33_34insG c.(31-36)ctggggfs p.LG11fs NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 11 integral to membrane|tight junction structural molecule activity p.L14fs*24(1) large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 AAGTCCAGCTCGGGGGGCTACT 0.550 9 317 --- --- --- --- BACE1 23621 broad.mit.edu 37 11 117186257 117186258 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:117186257_117186258insG ENST00000313005.6 - 1 714_715 c.254_255insC c.(253-255)ccafs p.P85fs BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P85fs NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 85 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) TTACCGTCTGCGGGGGGCTGCC 0.658 7 190 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118495753 118495754 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:118495753_118495754insC ENST00000361417.2 + 6 870_871 c.459_460insC c.(457-462)ggccccfs p.GP153fs PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 153 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GAGCCCCTGGGCCCCCCTACAG 0.609 8 554 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 13 95 --- --- --- --- ABCG4 64137 broad.mit.edu 37 11 119027095 119027096 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:119027095_119027096insG ENST00000307417.3 + 7 1107_1108 c.743_744insG c.(742-744)cggfs p.R248fs ABCG4_ENST00000449422.2_Frame_Shift_Ins_p.R248fs|ABCG4_ENST00000531739.1_Frame_Shift_Ins_p.R248fs NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 248 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCCCTGGCACAGGGGGGCCGTA 0.589 7 417 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 9 1052 --- --- --- --- VSIG2 23584 broad.mit.edu 37 11 124620739 124620740 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:124620739_124620740insG ENST00000403470.1 - 3 352_353 c.297_298insC c.(295-300)cccagtfs p.S100fs VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 100 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) ACCCCCACTGTGGGGGGGTTCT 0.540 11 161 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133807826 133807827 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr11:133807826_133807827insG ENST00000321016.8 - 4 669_670 c.439_440insC c.(439-441)gtafs p.V147fs IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 147 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTCGATGTACTGGGGGGGTGTT 0.574 10 78 --- --- --- --- RAD52 5893 broad.mit.edu 37 12 1036431 1036432 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:1036431_1036432insG ENST00000358495.3 - 6 487 c.e6-2 RAD52_ENST00000430095.2_Splice_Site|RAD52_ENST00000545564.1_Splice_Site|RAD52_ENST00000536177.1_Splice_Site|RAD52_ENST00000539046.1_Splice_Site NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TGAACCATCCTGGGGGCAGAAA 0.530 Homologous recombination 7 2513 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2968087 2968088 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:2968087_2968088insG ENST00000342628.2 - 10 2235_2236 c.2122_2123insC c.(2122-2124)tgafs p.*708fs FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CGGTGATTCAAGGGGGGGAGCA 0.579 9 228 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6153463 6153464 + Frame_Shift_Ins INS - - G rs137990643 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:6153463_6153464insG ENST00000261405.5 - 18 2689_2690 c.2435_2436insC c.(2434-2436)cggfs p.R812fs NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 812 E1.|TIL 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCACCATGCCCGGGGGGCAGAG 0.594 12 405 --- --- --- --- CD4 920 broad.mit.edu 37 12 6923985 6923986 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:6923985_6923986insC ENST00000011653.4 + 5 692_693 c.434_435insC c.(433-435)accfs p.T145fs CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 145 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) ACCTTGGAGAGCCCCCCTGGTA 0.579 7 1109 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 21 474 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045699 7045700 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:7045699_7045700insC ENST00000356654.4 + 5 1506_1507 c.1269_1270insC c.(1267-1272)caccccfs p.HP423fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 423 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TCTCCAATCAGCCCCCCAAGTA 0.614 7 225 --- --- --- --- RP11-273B20.3 0 broad.mit.edu 37 12 7338485 7338485 + RNA DEL C C - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:7338485delC ENST00000545794.1 - 0 279 RP11-273B20.3_ENST00000543061.1_RNA ggatgtgcctccccctgcact 0.443 2 4 --- --- --- --- LRP6 4040 broad.mit.edu 37 12 12274317 12274318 + Frame_Shift_Ins INS - - G rs145639537 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:12274317_12274318insG ENST00000261349.4 - 23 4660_4661 c.4584_4585insC c.(4582-4587)ccccacfs p.H1529fs BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1529 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CAGGGTGTGGTGGGGGGTGCAA 0.465 13 1280 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 12 191 --- --- --- --- GUCY2C 2984 broad.mit.edu 37 12 14825856 14825857 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:14825856_14825857insC ENST00000261170.3 - 9 1256_1257 c.1120_1121insG c.(1120-1122)tgtfs p.C374fs RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 374 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACTGTCAACATCCCCCCAGTCA 0.470 10 308 --- --- --- --- WBP11 51729 broad.mit.edu 37 12 14940365 14940366 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:14940365_14940366insG ENST00000261167.2 - 12 1792_1793 c.1559_1560insC c.(1558-1560)cggfs p.R520fs WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 520 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G521fs*28(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GGAACAGCCCAGGGGGGGCAGG 0.550 13 203 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950768 27950769 + Frame_Shift_Ins INS - - G rs145908611 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:27950768_27950769insG ENST00000381271.2 + 3 1498_1499 c.1187_1188insG c.(1186-1188)gggfs p.G396fs NM_020782.1 NP_065833.1 kelch-like family member 42 ATCTACATCGTGGGGGGGTGTC 0.594 52 550 --- --- --- --- PCED1B 91523 broad.mit.edu 37 12 47628997 47628998 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:47628997_47628998insG ENST00000546455.1 + 4 882_883 c.151_152insG c.(151-153)gggfs p.G51fs PCED1B_ENST00000432328.1_Frame_Shift_Ins_p.G51fs PC-esterase domain containing 1B p.R51G(1) GCTTAGAGCAAGGGGGGAGCTG 0.614 7 402 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 7 170 --- --- --- --- LIMA1 51474 broad.mit.edu 37 12 50571521 50571522 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:50571521_50571522insG ENST00000547825.1 - 5 1968_1969 c.699_700insC c.(697-702)ccctgafs p.*234fs LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.*375fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.*376fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.*537fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.*377fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.*233fs|LIMA1_ENST00000341247.4_Frame_Shift_Ins_p.*536fs NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 536 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 CCAAGTTCAGTGGGGGGTGGCC 0.540 7 302 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001990 53001991 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53001990_53001991insT ENST00000305748.3 - 9 1646_1647 c.1612_1613insA c.(1612-1614)catfs p.H538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TTATCTCATGGTTTTTTTGGTG 0.535 8 402 --- --- --- --- EIF4B 1975 broad.mit.edu 37 12 53427591 53427592 + Splice_Site INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53427591_53427592insC ENST00000262056.9 + 9 1307_1308 c.979_splice c.e9-1 p.GP327_splice EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice|RP11-983P16.4_ENST00000552905.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 327 Arg-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 TTAACTTAGGTCCCCCCCAAAG 0.426 9 105 --- --- --- --- AAAS 8086 broad.mit.edu 37 12 53715141 53715142 + Frame_Shift_Ins INS - - G rs138043864 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53715141_53715142insG ENST00000209873.4 - 1 273_274 c.108_109insC c.(106-111)ccacttfs p.L37fs AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 37 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCCCGGAAGTCGGGGGGCGGGC 0.653 11 384 --- --- --- --- SP1 6667 broad.mit.edu 37 12 53776725 53776727 + In_Frame_Del DEL ACC ACC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53776725_53776727delACC ENST00000426431.2 + 3 1033_1035 c.973_975delACC c.(973-975)del p.T326del SP1_ENST00000327443.4_In_Frame_Del_p.T333del NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 333 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) AACTACTACTACCACCAGCAACA 0.502 9 174 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53876882 53876883 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53876882_53876883insG ENST00000267079.2 - 12 1830_1831 c.1605_1606insC c.(1603-1608)cccaccfs p.T536fs MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.T569fs|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.T569fs NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 536 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CGTCCTGGTGAGGGGGGGCCCT 0.639 9 153 --- --- --- --- TARBP2 6895 broad.mit.edu 37 12 53898183 53898184 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:53898183_53898184insC ENST00000266987.2 + 5 908_909 c.425_426insC c.(424-426)accfs p.T142fs TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 142 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 TCCTTCAGGAGCCCCCCCATGG 0.564 7 195 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 21 2116 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 7 152 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 28 827 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558259 56558260 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:56558259_56558260insG ENST00000550164.1 - 28 3502_3503 c.3488_3489insC c.(3487-3489)cccfs p.P1163fs RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1132 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCAGGTTAGGTGGGGGGAGAGT 0.614 10 441 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 20 389 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 57009177 57009178 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:57009177_57009178insC ENST00000179765.5 - 3 549_550 c.350_351insG c.(349-351)gcafs p.A117fs BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 119 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGTATTGTCCCCCCGAGAA 0.584 8 218 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57114417 57114418 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:57114417_57114418insG ENST00000454682.1 - 3 1177_1178 c.896_897insC c.(895-897)cgafs p.R299fs NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGAAAATCTGGGGGGGTGTT 0.490 T BCL6 NHL 7 39 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 14 292 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 13 613 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000478070.1_3'UTR NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 8 386 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:70049361_70049362insG ENST00000330891.5 - 10 1558_1559 c.1332_1333insC c.(1330-1335)ccgggcfs p.PG444fs BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 444 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGTGAGGCCCTGGGGGGGTTTC 0.594 12 295 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 10 374 --- --- --- --- TMCC3 57458 broad.mit.edu 37 12 94975857 94975858 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:94975857_94975858insG ENST00000261226.4 - 2 666_667 c.535_536insC c.(535-537)ttgfs p.L179fs TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 179 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CTCCATGCAATGGGGGGCAGTT 0.495 12 1162 --- --- --- --- PAH 5053 broad.mit.edu 37 12 103237523 103237524 + Frame_Shift_Ins INS - - G rs62508574 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:103237523_103237524insG ENST00000553106.1 - 11 1571_1572 c.1099_1100insC c.(1099-1101)ggafs p.G367fs PAH_ENST00000307000.2_Frame_Shift_Ins_p.G362fs NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 367 Missing (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTCCAGCTCCAGGGGGAGAAGC 0.465 7 853 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104131518 104131519 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:104131518_104131519insG ENST00000388887.2 + 53 5861_5862 c.5657_5658insG c.(5656-5658)cggfs p.R1886fs NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1886 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GATCCCACCCTGGGGGGCCGCT 0.510 7 638 --- --- --- --- ACACB 32 broad.mit.edu 37 12 109604774 109604775 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:109604774_109604775insG ENST00000338432.7 + 3 881_882 c.762_763insG c.(760-765)ttggggfs p.LG254fs ACACB_ENST00000377848.3_Frame_Shift_Ins_p.LG254fs|ACACB_ENST00000377854.5_Frame_Shift_Ins_p.LG254fs O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 254 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TCACACGCTTTGGGGGGGATCG 0.614 13 326 --- --- --- --- UBE3B 89910 broad.mit.edu 37 12 109939222 109939223 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:109939222_109939223insG ENST00000342494.3 + 13 1760_1761 c.1165_1166insG c.(1165-1167)gggfs p.G389fs UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 389 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GCAGTTCTTGTGGGGGGTGCCT 0.554 13 824 --- --- --- --- ACAD10 80724 broad.mit.edu 37 12 112130538 112130539 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:112130538_112130539insC ENST00000455480.2 + 2 202_203 c.25_26insC c.(25-27)cccfs p.P9fs ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 9 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups p.S9F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CTGTTTCCAGTCCCCCCGTCTC 0.619 18 942 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113758305 113758306 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:113758305_113758306insG ENST00000552014.1 - 8 1042 c.e8-2 SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron Q6J4K2 NCKX6_HUMAN response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CGCCAGCGCCTGGGGGGAGGAG 0.644 12 764 --- --- --- --- SDSL 113675 broad.mit.edu 37 12 113872000 113872001 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:113872000_113872001insC ENST00000403593.4 + 5 678_679 c.416_417insC c.(415-417)gccfs p.A139fs SDSL_ENST00000345635.4_Frame_Shift_Ins_p.A139fs Q96GA7 SDSL_HUMAN serine dehydratase-like 139 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) TGGGAGAATGTCCCCCCGTTTG 0.614 7 924 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:117977604_117977605insG ENST00000425217.1 - 10 1573_1574 c.1519_1520insC c.(1519-1521)cccfs p.P507fs KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTAGGAGGGAGGGGGGGTGCT 0.634 8 297 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 15 297 --- --- --- --- TCTN2 79867 broad.mit.edu 37 12 124171533 124171534 + Frame_Shift_Ins INS - - C rs149186771 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:124171533_124171534insC ENST00000303372.5 + 6 843_844 c.715_716insC c.(715-717)cccfs p.P239fs TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.P238fs NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 239 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GTGTGTGCAGTCCCCCCTTGCC 0.564 18 2065 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124846815 124846816 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr12:124846815_124846816insG ENST00000356219.3 - 23 3108_3109 c.2953_2954insC c.(2953-2955)ggafs p.G985fs NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G986fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G539fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G969fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 986 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGCGTCCTCCCGGGGGGGCTCA 0.653 2 4 --- --- --- --- CENPJ 55835 broad.mit.edu 37 13 25480659 25480660 + In_Frame_Ins INS - - AAA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:25480659_25480660insAAA ENST00000381884.4 - 7 1701_1702 c.1516_1517insTTT c.(1516-1518)tcc>TTTtcc p.505_506insF CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 505 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AGGTTTTGGACACTCAGTTACA 0.436 7 176 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 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 10 942 --- --- --- --- FLT3 2322 broad.mit.edu 37 13 28608071 28608072 + Frame_Shift_Ins INS - - CC TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:28608071_28608072insCC ENST00000380982.4 - 15 1975_1976 c.1894_1895insGG c.(1894-1896)tagfs p.*632fs FLT3_ENST00000241453.7_Frame_Shift_Ins_p.*632fs|FLT3_ENST00000537084.1_Frame_Shift_Ins_p.*632fs P36888 FLT3_HUMAN fms-related tyrosine kinase 3 632 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTTTGCTAATTCCATAAGCT 0.426 """Mis, O""" """AML, ALL""" 115 1248 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 16 238 --- --- --- --- CPB2 1361 broad.mit.edu 37 13 46658415 46658416 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:46658415_46658416insA ENST00000181383.4 - 3 229_230 c.213_214insT c.(211-216)tttaaafs p.K72fs CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 72 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GATGCATTTACAAAAAAATGGA 0.361 7 265 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76375005 76375006 + Frame_Shift_Ins INS - - G rs74596180 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:76375005_76375006insG ENST00000357063.3 + 8 2064_2065 c.804_805insG c.(802-807)agggggfs p.RG268fs RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs Q8WWI1 LMO7_HUMAN LIM domain 7 268 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TCACGTTGAGAGGGGGGCGTGA 0.450 14 841 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77641916 77641917 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:77641916_77641917insG ENST00000407578.2 - 71 12520_12521 c.12254_12255insC c.(12253-12255)cgcfs p.R4085fs MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4047 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGATATCTGCTGGGGGGAGGGA 0.436 10 519 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88330396 88330397 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr13:88330396_88330397insC ENST00000325089.6 + 2 2972_2973 c.2753_2754insC c.(2752-2754)accfs p.T918fs SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.T677fs NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 918 integral to membrane p.S918I(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTGCTCTACAGCCCCCCGAGTG 0.545 7 162 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 9 618 --- --- --- --- SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:21820849_21820850insG ENST00000216297.2 - 26 3464_3465 c.3126_3127insC c.(3124-3129)ccagaafs p.E1043fs NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 8 384 --- --- --- --- TRAV3 28690 broad.mit.edu 37 14 22192097 22192098 + RNA INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:22192097_22192098insC ENST00000390425.2 + 0 138_139 GCTGGAAAGGACCCCCCCAATC 0.574 11 298 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23549377 23549378 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:23549377_23549378insG ENST00000262710.1 - 6 1667_1668 c.1340_1341insC c.(1339-1341)ggtfs p.G447fs ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 447 A -> P (in dbSNP:rs941719). apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GAATGAGGACAGCGGGGGCTGG 0.500 9 222 --- --- --- --- DHRS4L1 728635 broad.mit.edu 37 14 24518025 24518025 + RNA DEL G G - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:24518025delG ENST00000558293.1 + 0 668 NR_102693.1 dehydrogenase/reductase (SDR family) member 4 like 1 AGGATGGTGAGGAAGGGGAGC 0.537 7 617 --- --- --- --- NEDD8 4738 broad.mit.edu 37 14 24687374 24687375 + Frame_Shift_Ins INS - - G rs74744808 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:24687374_24687375insG ENST00000250495.5 - 3 299_300 c.113_114insC c.(112-114)ccafs p.P38fs NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000604306.1_5'UTR NM_006156.2 NP_006147.1 neural precursor cell expressed, developmentally down-regulated 8 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 GBM - Glioblastoma multiforme(265;0.0186) TCTGCTGTTGTGGGGGGATTCC 0.525 7 360 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24885703 24885708 + In_Frame_Del DEL GCAGGA GCAGGA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:24885703_24885708delGCAGGA ENST00000382554.3 + 9 5066_5071 c.4748_4753delGCAGGA c.(4747-4755)tgc>t p.CRS1583del NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1583 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAAGATTACTGCAGGAGCTGCTTGTT 0.583 13 53 --- --- --- --- CTSG 1511 broad.mit.edu 37 14 25042847 25042848 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:25042847_25042848insG ENST00000216336.2 - 5 799_800 c.763_764insC c.(763-765)gtgfs p.V255fs NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 255 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) AGTCAGTCACAGGGGGGTCTCC 0.490 10 1225 --- --- --- --- PAX9 5083 broad.mit.edu 37 14 37145441 37145442 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:37145441_37145442insC ENST00000361487.6 + 4 1035_1036 c.810_811insC c.(808-813)tccatcfs p.I271fs PAX9_ENST00000554201.1_Frame_Shift_Ins_p.P80fs|PAX9_ENST00000402703.2_Frame_Shift_Ins_p.I271fs|PAX9_ENST00000557107.1_3'UTR P55771 PAX9_HUMAN paired box 9 271 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GTTTTGTGTCAGCATCCAGCAT 0.485 17 428 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51347189 51347190 + Frame_Shift_Ins INS - - G rs141865189 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:51347189_51347190insG ENST00000337334.2 + 4 370_371 c.355_356insG c.(355-357)gggfs p.G119fs ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 119 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CCCCAGCTGCCGGGGGGAAGAT 0.490 11 421 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 10 181 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 21 451 --- --- --- --- MED6 10001 broad.mit.edu 37 14 71051554 71051555 + Frame_Shift_Ins INS - - G rs145634622 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:71051554_71051555insG ENST00000256379.5 - 8 745_746 c.716_717insC c.(715-717)cgafs p.R239fs MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 239 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity p.E240fs*1(1) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TCCGTTTTTCAGGGGGGCCTTT 0.450 10 790 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72165808 72165809 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:72165808_72165809insG ENST00000555818.1 + 11 3833_3834 c.3485_3486insG c.(3484-3486)gggfs p.G1162fs SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1162 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTTCTGTGGGGGGCACTT 0.495 7 342 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74824462 74824463 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:74824462_74824463insG ENST00000256362.4 + 2 1217_1218 c.976_977insG c.(976-978)gggfs p.G326fs NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 326 transposition, DNA-mediated DNA binding|transposase activity p.V329fs*25(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CAGCTTCCACCGGGGGGGCGTC 0.644 11 110 --- --- --- --- NPC2 10577 broad.mit.edu 37 14 74947387 74947388 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:74947387_74947388insC ENST00000557510.1 - 4 530_531 c.458_459insG c.(457-459)ggafs p.G153fs NPC2_ENST00000541064.1_Intron|NPC2_ENST00000555619.1_Intron|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron P61916 NPC2_HUMAN Niemann-Pick disease, type C2 0 cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) ATGCCCTCTCACCCCCAGATAG 0.450 7 855 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 75016598 75016599 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:75016598_75016599insC ENST00000261978.4 - 8 2142_2143 c.1756_1757insG c.(1756-1758)gacfs p.D586fs LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.D586fs|LTBP2_ENST00000557425.1_5'UTR NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 586 TB 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ACACAAAGTCACCCCCCAGAAG 0.629 9 278 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88406275 88406276 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:88406275_88406276insT ENST00000261304.2 - 16 1990_1991 c.1884_1885insA c.(1882-1887)aaggtafs p.V629fs GALC_ENST00000393569.2_Frame_Shift_Ins_p.V603fs|GALC_ENST00000544807.2_Frame_Shift_Ins_p.V573fs|GALC_ENST00000393568.4_Frame_Shift_Ins_p.V606fs NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 629 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGTGTATACCATTTTTTTGCTG 0.307 7 467 --- --- --- --- ZC3H14 79882 broad.mit.edu 37 14 89069237 89069238 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:89069237_89069238insC ENST00000251038.5 + 12 1805_1806 c.1580_1581insC c.(1579-1581)accfs p.T527fs ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 527 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GGTGTCCCCAGCCCCCCAGGAT 0.470 9 621 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818753 105818754 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:105818753_105818754insC ENST00000447393.1 + 3 421_422 c.246_247insC c.(244-249)ctccccfs p.LP82fs PACS2_ENST00000325438.8_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000458164.2_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.LP15fs NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 82 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGATTGTGCTGCCCCCCAGTGG 0.550 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 666 --- --- --- --- IGHD 3495 broad.mit.edu 37 14 106311791 106311792 + RNA INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr14:106311791_106311792insG ENST00000390556.2 - 0 218_219 CCACTGCTGGAGGGGGGTGGAG 0.594 8 313 --- --- --- --- IGHV3OR15-7 28318 broad.mit.edu 37 15 20193163 20193164 + RNA INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:20193163_20193164insC ENST00000558565.2 - 0 103_104 GTCTCAGAGAACCCCCAGGCTG 0.564 7 359 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 8 408 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25449554 25449564 + RNA DEL AAATCATTCTC AAATCATTCTC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:25449554_25449564delAAATCATTCTC ENST00000424208.1 + 0 2339 SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA NR_003305.1 GATGACTTAAAAATCATTCTCAAAAGGATTA 0.512 24 173 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28478873 28478874 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:28478873_28478874insG ENST00000261609.7 - 28 4395_4396 c.4287_4288insC c.(4285-4290)ccagcafs p.A1430fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1430 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P1429P(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACGGGATGCTCGGGGGGAAACA 0.450 13 424 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 179 --- --- --- --- EHD4 30844 broad.mit.edu 37 15 42192889 42192890 + Frame_Shift_Ins INS - - G rs145578237 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:42192889_42192890insG ENST00000220325.4 - 6 1662_1663 c.1579_1580insC c.(1579-1581)cctfs p.P527fs NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 527 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GGGCACGAGGTGGGGGGGCAGG 0.673 9 93 --- --- --- --- SORD 6652 broad.mit.edu 37 15 45353365 45353366 + Frame_Shift_Ins INS - - C rs11542063 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:45353365_45353366insC ENST00000267814.9 + 4 546_547 c.366_367insC c.(364-369)acccccfs p.TP122fs SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 122 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TCTGTGCCACGCCCCCCGATGA 0.530 10 384 --- --- --- --- PRTG 283659 broad.mit.edu 37 15 55912218 55912219 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:55912218_55912219insG ENST00000389286.4 - 20 3491_3492 c.3444_3445insC c.(3442-3447)ccacctfs p.P1149fs NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1149 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AATCAGAGGTTGGGGGGTGTGG 0.490 8 272 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56386880 56386881 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:56386880_56386881insG ENST00000423270.1 - 9 3044_3045 c.3045_3046insC c.(3043-3048)ccgcccfs p.P1016fs RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 919 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCAACAGGGCTGGGGGGGACAC 0.500 13 216 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64973566 64973567 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:64973566_64973567insC ENST00000326648.3 + 8 4349_4350 c.4221_4222insC c.(4219-4224)ccccccfs p.PP1407fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1407 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACTCTACCCACCCCCCAGGAG 0.470 OREG0023182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 1774 --- --- --- --- IGDCC4 57722 broad.mit.edu 37 15 65684710 65684711 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:65684710_65684711insG ENST00000352385.2 - 11 2095 c.e11-2 NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CAAAAGGGACTGGGGGGCAGAG 0.564 7 173 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65917264 65917265 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:65917264_65917265insC ENST00000261892.6 + 2 1133_1134 c.846_847insC c.(844-849)ttccccfs p.FP282fs SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.FP282fs NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 282 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ACAACCTGTTTCCCCCCAGAAG 0.505 9 216 --- --- --- --- ANKRD34C-AS1 729911 broad.mit.edu 37 15 79529452 79529453 + RNA INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:79529452_79529453insG ENST00000560533.1 - 0 349 ATAATGAGGATGGGGGGATGAC 0.490 7 527 --- --- --- --- AP3B2 8120 broad.mit.edu 37 15 83328737 83328738 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:83328737_83328738insG ENST00000261722.3 - 25 3167 c.e25-2 AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TCAGCTTTCCTGGGGGTAGAGG 0.554 7 1454 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85400266 85400267 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:85400266_85400267insA ENST00000258888.5 + 6 3070_3071 c.2903_2904insA c.(2902-2904)caafs p.Q968fs NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 968 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTTGTTTCCCAAAAAAACCTG 0.540 7 147 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91424578 91424579 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:91424578_91424579insC ENST00000268171.3 + 16 2134_2135 c.1855_1856insC c.(1855-1857)cccfs p.P619fs NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 619 Cys-rich. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.Q621fs*8(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TCCAGGGTTCGCCCCCCAAGTC 0.634 8 340 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91424956 91424957 + Frame_Shift_Ins INS - - G rs35641241 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:91424956_91424957insG ENST00000268171.3 + 16 2512_2513 c.2233_2234insG c.(2233-2235)gggfs p.G745fs NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 745 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.R745L(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTTAGTTTTCGGGGGGTGAAG 0.619 13 673 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540529 93540530 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:93540529_93540530insG ENST00000394196.4 + 30 4849_4850 c.3781_3782insG c.(3781-3783)gggfs p.G1261fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1261 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGATGTAGAGTGGGGGGTGGAA 0.411 10 373 --- --- --- --- LINS 55180 broad.mit.edu 37 15 101109855 101109856 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:101109855_101109856insG ENST00000314742.8 - 7 2083_2084 c.1861_1862insC c.(1861-1863)ggcfs p.G621fs NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 621 p.R621fs*13(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TTGAGAGGCCCGGGGGGAAGAC 0.525 7 755 --- --- --- --- ALDH1A3 220 broad.mit.edu 37 15 101438349 101438350 + Frame_Shift_Ins INS - - G rs142377552 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:101438349_101438350insG ENST00000329841.5 + 8 1374_1375 c.842_843insG c.(841-843)cggfs p.R281fs ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 281 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACGCTGGAGCTGGGGGGGAAGA 0.569 10 142 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101775436 101775437 + Frame_Shift_Ins INS - - C rs74545602 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:101775436_101775437insC ENST00000254190.3 - 2 1141_1142 c.666_667insG c.(664-669)ggctggfs p.W223fs NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 223 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCACGCCAGGCCCCCCCATGC 0.614 27 387 --- --- --- --- OR4F6 390648 broad.mit.edu 37 15 102346204 102346205 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr15:102346204_102346205insG ENST00000328882.4 + 1 303_304 c.282_283insG c.(280-285)ttggggfs p.LG94fs NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CCATCTCTTTTGGGGGCTGTGT 0.455 8 1123 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81765 81766 + RNA INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:81765_81766insC ENST00000568710.1 - 0 434 GGCAACCCCTGCCCCCCATGTC 0.564 9 497 --- --- --- --- SNX29 92017 broad.mit.edu 37 16 12162916 12162917 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:12162916_12162917insC ENST00000566228.1 + 10 1315_1316 c.1246_1247insC c.(1246-1248)cccfs p.P416fs SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 31 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CTGCACAGATGCCCCCCTCGGA 0.495 9 785 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 11 534 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 7 329 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20976647 20976648 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:20976647_20976648insG ENST00000261383.3 - 53 8557_8558 c.8558_8559insC c.(8557-8559)cctfs p.P2853fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2853 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCATGGTCAGTGGGGGGATGTT 0.460 7 554 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21063027 21063028 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:21063027_21063028insG ENST00000261383.3 - 29 4200_4201 c.4201_4202insC c.(4201-4203)gctfs p.A1401fs DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GATCACCAGCCGGGGGGAGTTT 0.569 19 578 --- --- --- --- SEZ6L2 26470 broad.mit.edu 37 16 29891248 29891249 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:29891248_29891249insG ENST00000308713.5 - 9 2036_2037 c.1509_1510insC c.(1507-1512)ccatgcfs p.C504fs SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 504 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCGATGGCATTGGGGGGCCCAG 0.604 9 774 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30531243 30531244 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:30531243_30531244insG ENST00000356798.6 + 30 3474_3475 c.3294_3295insG c.(3292-3297)atggggfs p.MG1098fs ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1098 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGAGCGGCATCGGGGGGCTGCT 0.599 10 675 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30733909 30733910 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:30733909_30733910insG ENST00000262518.4 + 23 4117_4118 c.3732_3733insG c.(3730-3735)gcggggfs p.AG1244fs SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1244 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCGTGTCAGCAGGGGGGCAGCA 0.614 15 1397 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30977316 30977317 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:30977316_30977317insC ENST00000262519.8 + 8 2800_2801 c.2114_2115insC c.(2113-2115)gccfs p.A705fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 705 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 GCCTCAGCTGGCCCCCCCGGTG 0.644 14 140 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422475 31422476 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:31422475_31422476insC ENST00000389202.2 + 13 1484_1485 c.1435_1436insC c.(1435-1437)cccfs p.P479fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 479 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCTCATTGGGGCCCCCCATTAC 0.649 7 715 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57938727 57938728 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:57938727_57938728insC ENST00000564448.1 - 26 2586_2587 c.2526_2527insG c.(2524-2529)ggtgccfs p.A843fs CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 849 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGGTCAGGCAGCCCCCCGATGG 0.510 9 192 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67180988 67180989 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:67180988_67180989insC ENST00000219139.3 + 16 1411_1412 c.1223_1224insC c.(1222-1224)gccfs p.A408fs C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 408 p.R411fs*4(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) ACCCTGTATGGCCCCCCCAGGC 0.594 18 349 --- --- --- --- DPEP2 64174 broad.mit.edu 37 16 68021467 68021468 + Frame_Shift_Ins INS - - G rs1133090 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:68021467_68021468insG ENST00000412757.2 - 12 2067_2068 c.1402_1403insC c.(1402-1404)catfs p.H468fs DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs Q9H4A9 DPEP2_HUMAN dipeptidase 2 468 H -> D (in dbSNP:rs1133090). hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGGGGCCATGTGGGGGGAGGAC 0.545 17 1237 --- --- --- --- NFATC3 4775 broad.mit.edu 37 16 68225520 68225521 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:68225520_68225521insG ENST00000349223.5 + 9 3172_3173 c.2948_2949insG c.(2947-2949)cggfs p.R983fs NFATC3_ENST00000346183.3_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.R983fs NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 983 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGTACGGGCCAGGGGGGTCTTT 0.505 8 1235 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74525008 74525009 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:74525008_74525009insC ENST00000422840.2 - 8 1338_1339 c.1339_1340insG c.(1339-1341)gatfs p.D447fs GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 447 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GTGTTCAATCTCCCCCCGACAG 0.515 8 280 --- --- --- --- CFDP1 10428 broad.mit.edu 37 16 75446448 75446449 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr16:75446448_75446449insG ENST00000283882.3 - 3 518_519 c.386_387insC c.(385-387)cagfs p.Q129fs CFDP1_ENST00000564286.1_5'UTR NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 129 Glu-rich. multicellular organismal development endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 CTTGTGTACTTGGGGGCACTTT 0.455 10 1500 --- --- --- --- GLOD4 51031 broad.mit.edu 37 17 673668 673669 + Frame_Shift_Ins INS - - G rs148496651 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:673668_673669insG ENST00000301329.6 - 6 707_708 c.622_623insC c.(622-624)gaafs p.E208fs GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 223 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TACCTCTTTCTGGGGGCAAGAG 0.480 9 1563 --- --- --- --- PRPF8 10594 broad.mit.edu 37 17 1562780 1562781 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:1562780_1562781insC ENST00000572621.1 - 31 5273_5274 c.5008_5009insG c.(5008-5010)ctafs p.L1670fs PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.L1670fs Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1670 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGAATCATAGTCCCCCCAGCGC 0.535 11 1615 --- --- --- --- RPA1 6117 broad.mit.edu 37 17 1782982 1782983 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:1782982_1782983insG ENST00000254719.5 + 11 1191_1192 c.1081_1082insG c.(1081-1083)gggfs p.G361fs NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 361 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGCTACACTGTGGGGGGAAGAT 0.530 Nucleotide excision repair (NER) 8 749 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 9 666 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3716453 3716454 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:3716453_3716454insC ENST00000158149.3 - 14 1802_1803 c.907_908insG c.(907-909)tctfs p.S303fs C17orf85_ENST00000389005.4_Frame_Shift_Ins_p.S583fs Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 583 nucleotide binding p.A303fs*2(1) endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) CTTAATCAGAGCCCCCCATGCC 0.505 7 495 --- --- --- --- ZMYND15 84225 broad.mit.edu 37 17 4647723 4647724 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:4647723_4647724insC ENST00000433935.1 + 10 1701_1702 c.1644_1645insC c.(1642-1647)ctccccfs p.LP548fs ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 509 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 GTGATGGCCTGCCCCCCGAAAG 0.594 10 232 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4884523 4884524 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:4884523_4884524insC ENST00000361571.5 - 7 1104_1105 c.693_694insG c.(691-696)ggttggfs p.W232fs CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 233 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AACTTACCAAGCCCCCCACTGC 0.550 OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 598 --- --- --- --- WSCD1 23302 broad.mit.edu 37 17 6012978 6012979 + Frame_Shift_Ins INS - - C rs41314099 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:6012978_6012979insC ENST00000574946.1 + 6 1291_1292 c.901_902insC c.(901-903)cccfs p.P301fs WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs Q658N2 WSCD1_HUMAN WSC domain containing 1 301 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 TGCTTACCCTACCCCCCGGTTC 0.564 10 1855 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 14 1201 --- --- --- --- PLSCR3 57048 broad.mit.edu 37 17 7294058 7294059 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7294058_7294059insC ENST00000535512.1 - 10 1742_1743 c.725_726insG c.(724-726)gctfs p.A242fs PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 242 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) CTCGGACCAGGCCCCCCCACTG 0.614 11 256 --- --- --- --- FGF11 2256 broad.mit.edu 37 17 7343098 7343099 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7343098_7343099insG ENST00000293829.4 + 1 753_754 c.159_160insG c.(157-162)tgggggfs p.WG53fs FGF11_ENST00000575235.1_Intron|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575331.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_004112.2 NP_004103.1 Q92914 FGF11_HUMAN fibroblast growth factor 11 53 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) TGCGACTGTgcggggggcggcc 0.738 2 4 --- --- --- --- SLC35G6 643664 broad.mit.edu 37 17 7386029 7386030 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7386029_7386030insC ENST00000412468.2 + 2 841_842 c.726_727insC c.(724-729)caccccfs p.HP242fs ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 242 integral to membrane p.P243S(1) TTGTGCTGCAGCCCCCCGTGTT 0.599 7 290 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7573943 7573944 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7573943_7573944insC ENST00000269305.4 - 10 1272_1273 c.1083_1084insG c.(1081-1086)gggcagfs p.Q362fs TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q362fs NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 362 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with USP7. 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.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(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) TGAGCCCTGCTCCCCCCTGGCT 0.594 111 """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) 8 215 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7579470_7579471insG ENST00000420246.2 - 4 348_349 c.216_217insC c.(214-219)cctggcfs p.G73fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 73 Interaction with HRMT1L2.|Interaction with WWOX. V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """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) 10 742 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606714 7606715 + Frame_Shift_Ins INS - - G rs146634933 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7606714_7606715insG ENST00000316024.5 + 10 3905_3906 c.1557_1558insG c.(1555-1560)tgggggfs p.WG519fs WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGCC 0.599 11 135 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612855 7612856 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7612855_7612856insC ENST00000226091.2 + 5 1381_1382 c.984_985insC c.(982-987)ggccccfs p.GP328fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 328 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCAGGATGGGCCCCCCCAGAG 0.574 13 335 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798764 7798765 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7798764_7798765insC ENST00000380358.4 + 10 1789_1790 c.1788_1789insC c.(1786-1791)ccccccfs p.PP596fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTCC 0.574 30 490 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7852808 7852809 + Frame_Shift_Ins INS - - G rs35508310 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:7852808_7852809insG ENST00000380262.3 + 19 3683_3684 c.2758_2759insG c.(2758-2760)gggfs p.G920fs CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G898fs|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G899fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 898 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CATGAGGAGCCGGGGGGGAGTC 0.550 7 168 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8218831 8218832 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:8218831_8218832insC ENST00000361926.3 + 7 1470_1471 c.1360_1361insC c.(1360-1362)cccfs p.P454fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P454fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 454 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GGACACGCTCACCCCCCGTGAT 0.629 9 888 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222137 8222138 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:8222137_8222138insG ENST00000361926.3 + 12 2052_2053 c.1942_1943insG c.(1942-1944)gggfs p.G648fs ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 648 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGGGTGCCGGAGGGGGGGCGTG 0.634 27 586 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:8224297_8224298insC ENST00000361926.3 + 16 2622_2623 c.2512_2513insC c.(2512-2514)cccfs p.P838fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 838 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CACCCCCAATGCCCCCCCACCC 0.574 16 212 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10419785 10419786 + Frame_Shift_Ins INS - - C rs147810417 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:10419785_10419786insC ENST00000226207.5 - 3 268_269 c.174_175insG c.(172-177)ggaggtfs p.G59fs CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 59 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTGTCACCTTCCCCCCTTCCC 0.475 9 1134 --- --- --- --- TMEM220-AS1 101101775 broad.mit.edu 37 17 10642553 10642560 + RNA DEL CCTTCCTT CCTTCCTT - rs72385561 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:10642553_10642560delCCTTCCTT ENST00000583343.1 + 0 144 CTC-297N7.5_ENST00000583012.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA cttcccttccccttccttccttccttcc 0.591 2 4 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11687648 11687649 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:11687648_11687649insG ENST00000262442.3 + 41 7921_7922 c.7853_7854insG c.(7852-7854)cggfs p.R2618fs DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.R2618fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2618 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P2618P(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCTCCTTCCCGGGGGCAGATG 0.530 8 720 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12655969 12655970 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:12655969_12655970insC ENST00000425538.1 + 10 1564_1565 c.1364_1365insC c.(1363-1365)accfs p.T455fs MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.T359fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.T455fs NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 455 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACCAGCTCCAGCCCCCCGATCT 0.614 8 444 --- --- --- --- TRIM16L 147166 broad.mit.edu 37 17 18638351 18638351 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:18638351delT ENST00000449552.2 + 7 2109 c.625delT c.(625-627)acfs p.Y209fs TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs Q309B1 TR16L_HUMAN tripartite motif containing 16-like 209 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 GCAGAGTCTGTACCTGCACAG 0.612 8 87 --- --- --- --- UBBP4 23666 broad.mit.edu 37 17 21731033 21731034 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:21731033_21731034insC ENST00000584755.1 + 2 732_733 c.335_336insC c.(334-336)accfs p.T112fs UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AAAGAAGGCATCCCCCCCGACC 0.540 7 96 --- --- --- --- PHF12 57649 broad.mit.edu 37 17 27233908 27233909 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:27233908_27233909insG ENST00000332830.4 - 14 3455_3456 c.2645_2646insC c.(2644-2646)cagfs p.Q882fs PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 882 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAATACTGCTTGGGGGGGTTGG 0.510 8 231 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 14 217 --- --- --- --- ASIC2 40 broad.mit.edu 37 17 31439004 31439005 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:31439004_31439005insC ENST00000225823.2 - 2 1661_1662 c.789_790insG c.(787-792)ggcaggfs p.R264fs ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|RP11-40A13.1_ENST00000584688.1_RNA NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 213 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCGTTGCCTGTCCCCCCCTTGA 0.550 9 221 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35487100 35487101 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:35487100_35487101insC ENST00000353139.5 - 46 6204_6205 c.5723_5724insG c.(5722-5724)gatfs p.D1908fs ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1871 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAATCTGGATGCCCCCCAGCTG 0.495 12 580 --- --- --- --- HNF1B 6928 broad.mit.edu 37 17 36059173 36059174 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:36059173_36059174insG ENST00000225893.4 - 8 1922_1923 c.1561_1562insC c.(1561-1563)gtafs p.V521fs HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 521 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGGAATACTGGGGGGGTTCC 0.515 9 138 --- --- --- --- MLLT6 4302 broad.mit.edu 37 17 36868997 36868998 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:36868997_36868998insC ENST00000325718.7 + 8 865_866 c.774_775insC c.(772-777)tcccccfs p.SP258fs MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.SP258fs NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 258 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GGCCTGAGTCGCCCCCCAGCAT 0.614 T MLL AL 7 246 --- --- --- --- PCGF2 7703 broad.mit.edu 37 17 36896586 36896587 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:36896586_36896587insC ENST00000580830.1 - 4 770_771 c.69_70insG c.(67-72)ggacttfs p.L24fs PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs P35227 PCGF2_HUMAN polycomb group ring finger 2 24 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TCGATGAAGTACCCCCCGCAGA 0.629 14 498 --- --- --- --- RPL23 9349 broad.mit.edu 37 17 37008858 37008859 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:37008858_37008859insT ENST00000479035.2 - 3 356_357 c.226_splice c.e3+1 p.S75_splice RPL23_ENST00000394333.1_Splice_Site_p.S75_splice|RPL23_ENST00000394332.1_Splice_Site_p.S75_splice|RPL23_ENST00000245857.5_Splice_Site_p.S16_splice|RPL23_ENST00000577407.1_Splice_Site_p.S75_splice NM_000978.3 NP_000969.1 P62829 RL23_HUMAN ribosomal protein L23 75 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome endometrium(2)|large_intestine(1) 3 TTTACTCACCCTTTTTTCTGAG 0.485 7 619 --- --- --- --- STAC2 342667 broad.mit.edu 37 17 37373352 37373353 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:37373352_37373353insA ENST00000333461.5 - 3 840_841 c.471_472insT c.(469-474)tcaccafs p.P158fs NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 158 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CATTGCTGGTGGGAGATCTCCT 0.550 12 120 --- --- --- --- SMARCE1 6605 broad.mit.edu 37 17 38787144 38787145 + In_Frame_Ins INS - - ACT TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:38787144_38787145insACT ENST00000348513.6 - 10 1628_1629 c.848_849insAGT c.(847-849)gaa>gAGTaa p.283_284ins* KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266ins* NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 283 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) CTGCAATTTTCTCCATATCCAC 0.450 10 189 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 10 128 --- --- --- --- STAT5A 6776 broad.mit.edu 37 17 40453398 40453399 + Frame_Shift_Ins INS - - C rs146398782 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:40453398_40453399insC ENST00000345506.4 + 10 1737_1738 c.1095_1096insC c.(1093-1098)aaccccfs p.NP365fs STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.NP335fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.NP365fs NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 365 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGCACATGAATCCCCCCCAGGT 0.564 13 394 --- --- --- --- ARL4D 379 broad.mit.edu 37 17 41477331 41477332 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:41477331_41477332insG ENST00000320033.4 + 2 438_439 c.231_232insG c.(229-234)gtggggfs p.VG77fs NM_001661.3 NP_001652.2 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 77 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) TGTGGGACGTCGGGGGGCAGGA 0.629 17 502 --- --- --- --- ETV4 2118 broad.mit.edu 37 17 41610700 41610701 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:41610700_41610701insG ENST00000319349.5 - 7 697_698 c.399_400insC c.(397-402)ccgacafs p.T134fs ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 134 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GCGATTTGTCTGGGGGGGTCAT 0.579 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 8 73 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42478248 42478249 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:42478248_42478249insG ENST00000434000.1 - 9 1244_1245 c.962_963insC c.(961-963)cgcfs p.R321fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 399 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCAGTGTGCTGGGGGGATGTA 0.441 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 396 --- --- --- --- OSBPL7 114881 broad.mit.edu 37 17 45886342 45886343 + Frame_Shift_Ins INS - - G rs143462261 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:45886342_45886343insG ENST00000007414.3 - 21 2375_2376 c.2184_2185insC c.(2182-2187)ccaccafs p.P729fs OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 729 lipid transport lipid binding p.D729fs*3(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CGCTCATGGTCGGGGGGCATTG 0.619 9 284 --- --- --- --- MRPL27 51264 broad.mit.edu 37 17 48447367 48447368 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:48447367_48447368insG ENST00000442592.3 - 3 301_302 c.265_266insC c.(265-267)tttfs p.F89fs MRPL27_ENST00000503633.1_Intron|MRPL27_ENST00000511860.1_Intron|MRPL27_ENST00000507088.1_Intron|MRPL27_ENST00000225969.4_Intron Q9P0M9 RM27_HUMAN mitochondrial ribosomal protein L27 0 translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(1)|large_intestine(2)|urinary_tract(1) 4 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;1.73e-07) AAAAGGAAAAAGGGGGGCAGCA 0.495 17 1016 --- --- --- --- MTMR4 9110 broad.mit.edu 37 17 56590245 56590246 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:56590245_56590246insG ENST00000323456.5 - 3 184_185 c.60_61insC c.(58-63)ccaggafs p.G21fs MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 21 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.K21fs*20(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTAGTTCCTTGGGGGGGAACA 0.569 40 1013 --- --- --- --- CLTC 1213 broad.mit.edu 37 17 57733326 57733327 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:57733326_57733327insT ENST00000269122.3 + 6 1181_1182 c.907_908insT c.(907-909)tttfs p.F303fs CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.F303fs NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 303 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGGAGAAACAATTTTTGTTACT 0.371 T """ALK, TFE3""" """ALCL, renal """ 222 155 --- --- --- --- MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:60814265_60814266insC ENST00000544856.2 - 7 1338_1339 c.960_961insG c.(958-963)ggcatcfs p.I321fs RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 322 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGGGTCGATGTCCCCCCAAATC 0.460 7 1117 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61559936 61559937 + Frame_Shift_Ins INS - - G rs145172277 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:61559936_61559937insG ENST00000290866.4 + 8 1252_1253 c.1228_1229insG c.(1228-1230)gggfs p.G410fs ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 410 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTCCCTGCGTCGGGGGGCCAAC 0.609 7 258 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62049212 62049213 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:62049212_62049213insG ENST00000578147.1 - 4 559 c.e4-2 SCN4A_ENST00000435607.1_Splice_Site P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AAGGTGTACCTGGGGGGGAGAG 0.589 8 122 --- --- --- --- PRKCA 5578 broad.mit.edu 37 17 64683327 64683328 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:64683327_64683328insA ENST00000413366.3 + 6 654_655 c.628_629insA c.(628-630)aaafs p.K210fs NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 210 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TGAAAGCAAGCAAAAAACCAAA 0.401 9 370 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 14 757 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:71223356_71223357insG ENST00000405159.3 - 2 332_333 c.268_269insC c.(268-270)gacfs p.D90fs FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 90 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 21 258 --- --- --- --- MRPS7 51081 broad.mit.edu 37 17 73258564 73258565 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:73258564_73258565insC ENST00000579002.1 + 1 572_573 c.157_158insC c.(157-159)cccfs p.P53fs MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CCTCCTCCTTTCCCCCCCTCCC 0.554 22 627 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73493880 73493881 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:73493880_73493881insC ENST00000314256.7 + 27 3820_3821 c.3426_3427insC c.(3424-3429)aaccccfs p.NP1142fs KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1142 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCTGGGGAAGCCCCCCCATAG 0.520 89 2207 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80758858 80758860 + Translation_Start_Site DEL GGT GGT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr17:80758858_80758860delGGT ENST00000397466.2 + 0 1045_1047 TBCD_ENST00000539345.2_In_Frame_Del_p.KV312del|TBCD_ENST00000355528.4_In_Frame_Del_p.KV312del Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGAAGCCGAAGGTGGCAGCATGG 0.675 7 36 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13113612 13113613 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr18:13113612_13113613insG ENST00000506447.1 + 41 7155_7156 c.7075_7076insG c.(7075-7077)gggfs p.G2359fs CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1954 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCCAGAGGTAGGGGGGATTAT 0.426 7 309 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29437545 29437546 + Frame_Shift_Ins INS - - GG TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr18:29437545_29437546insGG ENST00000283351.4 - 20 3480_3481 c.3145_3146insCC c.(3145-3147)tttfs p.F1049fs TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1049 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTAAAACAAAAAGTTAATTTCA 0.376 19 149 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45567084 45567085 + Frame_Shift_Ins INS - - C rs115080210 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr18:45567084_45567085insC ENST00000588982.1 - 3 895_896 c.394_395insG c.(394-396)cggfs p.R132fs ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.R132fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 132 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 ctcccccccgtcccccCCAGGC 0.579 8 225 --- --- --- --- ATP8B1 5205 broad.mit.edu 37 18 55317669 55317669 + Frame_Shift_Del DEL G G - rs112600442 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr18:55317669delG ENST00000536015.1 - 27 3580 c.3461delC c.(3460-3462)gtfs p.A1154fs ATP8B1_ENST00000283684.4_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1154 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TAAGCACACAGCAACAGCCAG 0.433 21 400 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538452 4538453 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:4538452_4538453insG ENST00000306390.6 - 2 1003_1004 c.543_544insC c.(541-546)ccggctfs p.A182fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 182 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCAGCCCGGGGGGCAGTT 0.619 9 369 --- --- --- --- ZNRF4 148066 broad.mit.edu 37 19 5456529 5456530 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:5456529_5456530insC ENST00000222033.4 + 1 1104_1105 c.1027_1028insC c.(1027-1029)cccfs p.P343fs NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 343 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTTCTCCCAAGCCCCCCGGCGC 0.609 7 210 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 54 1107 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755179 6755180 + Frame_Shift_Ins INS - - G rs139813452 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:6755179_6755180insG ENST00000245908.6 - 5 912_913 c.643_644insC c.(643-645)gacfs p.D215fs SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 215 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGGGTGTCCGGGGGGGCTTC 0.653 21 454 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8196624 8196625 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:8196624_8196625insC ENST00000600128.1 - 15 2217_2218 c.1803_1804insG c.(1801-1806)ggtggcfs p.G602fs FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs Q75N90 FBN3_HUMAN fibrillin 3 602 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTACCGCCAGCCCCCCCAGGC 0.678 10 87 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9059338 9059339 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:9059338_9059339insG ENST00000397910.4 - 3 28310_28311 c.28107_28108insC c.(28105-28110)ccaaacfs p.N9370fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9372 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACCTGTTTTGGGGGTGATGG 0.505 8 400 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 20 394 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9072450 9072451 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:9072450_9072451insG ENST00000397910.4 - 3 15198_15199 c.14995_14996insC c.(14995-14997)ggcfs p.G4999fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5001 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATCCCTGCCTGGGGGGTTGTA 0.465 9 390 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 46 650 --- --- --- --- EPOR 2057 broad.mit.edu 37 19 11488680 11488681 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:11488680_11488681insG ENST00000222139.6 - 8 1610_1611 c.1506_1507insC c.(1504-1509)ccgctafs p.L503fs EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 503 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCCACATAGCTGGGGGGCAGAG 0.569 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 696 --- --- --- --- ZNF625 90589 broad.mit.edu 37 19 12256750 12256751 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:12256750_12256751insC ENST00000355738.1 - 4 631_632 c.282_283insG c.(280-285)ggaaccfs p.T95fs ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625_ENST00000455799.1_3'UTR Q96I27 ZN625_HUMAN zinc finger protein 625 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 TCATAAGGTTTCCCCCCAGTGT 0.421 10 1011 --- --- --- --- TNPO2 30000 broad.mit.edu 37 19 12812575 12812576 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:12812575_12812576insC ENST00000425528.1 - 23 2858_2859 c.2501_2502insG c.(2500-2502)ggtfs p.G834fs TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.G834fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs O14787 TNPO2_HUMAN transportin 2 834 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTGCACAACGCCCCCCGGGTT 0.639 10 295 --- --- --- --- IL27RA 9466 broad.mit.edu 37 19 14157253 14157254 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:14157253_14157254insC ENST00000263379.2 + 8 1089_1090 c.964_965insC c.(964-966)cccfs p.P322fs NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 322 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity p.R324fs*2(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 TTCAGCCTCTGCCCCCCGTAGC 0.629 7 516 --- --- --- --- SLC1A6 6511 broad.mit.edu 37 19 15067446 15067447 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:15067446_15067447insC ENST00000430939.2 - 6 947_948 c.818_819insG c.(817-819)gcafs p.A273fs SLC1A6_ENST00000221742.3_Frame_Shift_Ins_p.A337fs|SLC1A6_ENST00000600144.1_Intron P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 337 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TGCCCAGCTGACCCCCCAGGAC 0.584 7 976 --- --- --- --- AP1M1 8907 broad.mit.edu 37 19 16314383 16314384 + Frame_Shift_Ins INS - - G rs146546344 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:16314383_16314384insG ENST00000291439.3 + 2 605_606 c.156_157insG c.(154-159)caggggfs p.QG52fs AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 52 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TCCTGGCCCACGGGGGGGTCCG 0.594 11 371 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17039883 17039884 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:17039883_17039884insC ENST00000443236.1 - 24 3184_3185 c.3153_3154insG c.(3151-3156)ggatcafs p.S1052fs NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1005 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.H1052fs*30(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTTCTGATGCCCCCCCAGGA 0.584 11 160 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17081702 17081703 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:17081702_17081703insG ENST00000443236.1 - 18 2383_2384 c.2354_splice c.e18+1 p.N785_splice CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 738 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCCGTTACCTGGGGGGGTGCC 0.569 7 56 --- --- --- --- PLVAP 83483 broad.mit.edu 37 19 17488050 17488051 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:17488050_17488051insC ENST00000252590.4 - 1 108_109 c.47_48insG c.(46-48)gagfs p.E16fs NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 16 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCGAGAGCTGCCCCCCGCCCG 0.624 8 375 --- --- --- --- LRRC25 126364 broad.mit.edu 37 19 18502937 18502938 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:18502937_18502938insG ENST00000339007.3 - 2 1433 c.e2-2 LRRC25_ENST00000595840.1_Splice_Site NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 GGGTGAGCCCTGGGGGGACAGA 0.574 10 974 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 31039041 31039042 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:31039041_31039042insG ENST00000355537.3 + 4 2662_2663 c.2515_2516insG c.(2515-2517)gggfs p.G839fs NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGACATCCTGAGGGGGGCCTTC 0.584 8 436 --- --- --- --- HAUS5 23354 broad.mit.edu 37 19 36113838 36113840 + In_Frame_Del DEL CCA CCA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:36113838_36113840delCCA ENST00000203166.5 + 19 1870_1872 c.1845_1847delCCA c.(1843-1848)ccg>cc p.PQ615del HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 615 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 TGTCCCTGCCCCAGTGGCGGCTG 0.655 13 121 --- --- --- --- HCST 10870 broad.mit.edu 37 19 36393526 36393527 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:36393526_36393527insT ENST00000246551.4 + 1 145_146 c.31_32insT c.(31-33)tttfs p.F11fs HCST_ENST00000437550.2_Frame_Shift_Ins_p.F11fs Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 11 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCTTCCTGCTTTTGCTCCCA 0.584 9 1375 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40320998 40320999 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:40320998_40320999insG ENST00000601972.1 - 4 618_619 c.388_389insC c.(388-390)ccafs p.P130fs DYRK1B_ENST00000348817.3_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000323039.5_Intron Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 578 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) ATCAGGGTGGTGGGGGGTGTCC 0.584 7 263 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325192 40325193 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:40325192_40325193insG ENST00000221801.3 - 9 1064_1065 c.951_952insC c.(949-954)ccaggtfs p.G318fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 318 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TTCTTCACCTTGGGGGGTGGCC 0.505 18 759 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40433028 40433028 + Frame_Shift_Del DEL C C - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:40433028delC ENST00000221347.6 - 2 1248 c.1241delG c.(1240-1242)gafs p.G414fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 414 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTGAGCAGTCCCAAGTTGGT 0.597 19 187 --- --- --- --- LTBP4 8425 broad.mit.edu 37 19 41132910 41132911 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:41132910_41132911insC ENST00000308370.7 + 32 4214_4215 c.4214_4215insC c.(4213-4215)cccfs p.P1405fs LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.P1338fs|LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.P773fs|LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.P1368fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1406 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AATGTGCTACGCCCCCCCGCAT 0.629 8 98 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:42224865_42224866insC ENST00000221992.6 + 8 1909_1910 c.1795_1796insC c.(1795-1797)cccfs p.P599fs CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCCATCATTTCCCCCCCAGAC 0.545 12 341 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42621520 42621521 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:42621520_42621521insG ENST00000560398.1 - 5 257_258 c.250_251insC c.(250-252)gatfs p.D84fs POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site P09086 PO2F2_HUMAN POU class 2 homeobox 2 62 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) AGCCTTGATCTGGGGGGGAGAG 0.634 13 225 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:43439519_43439520insC ENST00000406070.2 - 0 527 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 19 972 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:45805663_45805664insC ENST00000300843.4 + 18 2331_2332 c.2034_2035insC c.(2032-2037)ccccccfs p.PP678fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 0 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 10 286 --- --- --- --- IGFL2 147920 broad.mit.edu 37 19 46663998 46663999 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:46663998_46663999insC ENST00000434646.2 + 4 525_526 c.234_235insC c.(232-237)ggccccfs p.GP78fs IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 67 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) GCCAATGTGGTCCCCCCTGCAC 0.554 11 1575 --- --- --- --- EHD2 30846 broad.mit.edu 37 19 48244286 48244287 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:48244286_48244287insG ENST00000263277.3 + 6 1480_1481 c.1229_1230insG c.(1228-1230)cggfs p.R410fs EHD2_ENST00000538399.1_Frame_Shift_Ins_p.R274fs|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 410 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GTGGGCGTGCAGGGGGGCGCTT 0.673 8 271 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 17 264 --- --- --- --- SLC6A16 28968 broad.mit.edu 37 19 49813085 49813086 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:49813085_49813086insG ENST00000454748.3 - 5 902 c.e5-2 SLC6A16_ENST00000335875.4_Splice_Site Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ATTCAGGATCTGGGGGGACCTG 0.535 14 811 --- --- --- --- CPT1C 126129 broad.mit.edu 37 19 50216300 50216301 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:50216300_50216301insA ENST00000392518.4 + 19 2577_2578 c.2205_2206insA c.(2203-2208)agaaaafs p.RK735fs CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.RK646fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.RK735fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.RK724fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.RK735fs NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 735 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) ACATCTCCAGCAAAAAATCAAG 0.505 8 1054 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 21 449 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243087 50243088 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:50243087_50243088insC ENST00000246801.3 - 11 1806_1807 c.1724_1725insG c.(1723-1725)gggfs p.G575fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 575 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACTGCTGCCTCCCCCCATTGT 0.554 10 572 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50862305 50862306 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:50862305_50862306insC ENST00000253719.2 - 8 1205_1206 c.997_998insG c.(997-999)ctgfs p.L333fs NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 333 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GTTAAACCAGACCCCCCCAAGA 0.530 22 524 --- --- --- --- POLD1 5424 broad.mit.edu 37 19 50905323 50905324 + Frame_Shift_Ins INS - - G rs140707092 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:50905323_50905324insG ENST00000440232.2 + 5 584_585 c.531_532insG c.(529-534)cgggggfs p.RG177fs POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 177 R -> H (in dbSNP:rs3218750). base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding p.R177R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGGACAGTCGCGGGGGGAGGGA 0.673 DNA polymerases (catalytic subunits) 7 79 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51192459 51192460 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:51192459_51192460insC ENST00000293441.1 - 15 2059_2060 c.2041_2042insG c.(2041-2043)caafs p.Q681fs SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 681 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.A681S(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTCACCCTTGGCCCCCCGGAGC 0.609 7 332 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 12 347 --- --- --- --- LIM2 3982 broad.mit.edu 37 19 51890511 51890512 + Frame_Shift_Ins INS - - G rs73933350 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:51890511_51890512insG ENST00000221973.3 - 2 228_229 c.186_187insC c.(184-189)ccgccafs p.P63fs LIM2_ENST00000596399.1_Intron NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 58 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) GGACCCTGGCCGGGGGGCTCAC 0.649 8 90 --- --- --- --- ZNF528 84436 broad.mit.edu 37 19 52919519 52919519 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:52919519delA ENST00000360465.3 + 7 1840 c.1414delA c.(1414-1416)aafs p.K472fs ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AGAATGTGGCAAAGTCTTCAG 0.398 9 358 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649666 54649667 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:54649666_54649667insC ENST00000406403.1 + 8 2327_2328 c.724_725insC c.(724-726)cccfs p.P242fs CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 242 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGTCGCCACCTCCCCTCCCAGC 0.644 7 94 --- --- --- --- KIR3DL1 3811 broad.mit.edu 37 19 55341655 55341656 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr19:55341655_55341656insC ENST00000391728.4 + 9 1293_1294 c.1260_1261insC c.(1258-1263)acccccfs p.TP420fs KIR3DL1_ENST00000541392.1_Frame_Shift_Ins_p.TP403fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Ins_p.TP420fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Frame_Shift_Ins_p.TP403fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Ins_p.TP325fs NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GGCCCAAGACACCCCCTACAGA 0.510 7 1749 --- --- --- --- DEFB132 400830 broad.mit.edu 37 20 239780 239781 + Frame_Shift_Ins INS - - G rs138201035 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:239780_239781insG ENST00000382376.3 + 2 164_165 c.121_122insG c.(121-123)gggfs p.G41fs NM_207469.2 NP_997352.1 Q7Z7B7 DB132_HUMAN defensin, beta 132 41 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 ATGTTGCCACTGGGGGGAGACA 0.525 9 252 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 13 448 --- --- --- --- RSPO4 343637 broad.mit.edu 37 20 948762 948763 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:948762_948763insC ENST00000217260.4 - 2 194_195 c.98_99insG c.(97-99)gaafs p.E33fs RSPO4_ENST00000400634.2_Frame_Shift_Ins_p.E33fs NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 33 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CTGTGCAGTTGCCCCCCAGGCC 0.594 10 718 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:1426464_1426465insG ENST00000216879.4 - 8 1663_1664 c.796_797insC c.(796-798)ggtfs p.G266fs NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 266 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510 13 474 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 8 205 --- --- --- --- ISM1 140862 broad.mit.edu 37 20 13260474 13260475 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:13260474_13260475insC ENST00000262487.3 + 3 578_579 c.572_573insC c.(571-573)accfs p.T191fs TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 191 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 AACTTCCTCAACCCCCCCAGGG 0.554 14 307 --- --- --- --- PLAGL2 5326 broad.mit.edu 37 20 30789951 30789952 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:30789951_30789952insG ENST00000246229.4 - 2 294_295 c.30_31insC c.(28-33)ccggatfs p.D11fs NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 11 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTGAATCCAGGGGGGGACGC 0.559 10 170 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618503 34618504 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:34618503_34618504insC ENST00000373973.3 + 12 1837_1838 c.1664_1665insC c.(1663-1665)cccfs p.P555fs CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs cyclic nucleotide binding domain containing 2 CAGAAATACCTCCCCCCATTGA 0.455 12 1009 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 7 107 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:39977798_39977799insC ENST00000373257.3 + 5 715_716 c.624_625insC c.(622-627)tgccccfs p.CP208fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 208 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) ATGGCGAGTGGCCCCCCCAGGC 0.540 11 151 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 19 272 --- --- --- --- WFDC3 140686 broad.mit.edu 37 20 44404105 44404106 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:44404105_44404106insG ENST00000243938.4 - 6 712_713 c.629_630insC c.(628-630)caafs p.Q210fs WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 210 extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) TGGTCAGTTTTGGGGGCAGGAC 0.480 9 889 --- --- --- --- NCOA5 57727 broad.mit.edu 37 20 44691403 44691404 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:44691403_44691404insG ENST00000290231.6 - 8 1439_1440 c.1275_1276insC c.(1273-1278)cccctcfs p.L426fs NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGCTGGGAGGTGGGGGGTGCAG 0.619 9 513 --- --- --- --- SLC13A3 64849 broad.mit.edu 37 20 45194969 45194970 + Frame_Shift_Ins INS - - G rs149123701 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:45194969_45194970insG ENST00000279027.4 - 11 1410_1411 c.1392_1393insC c.(1390-1395)ccccctfs p.PP464fs SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 464 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.P464P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACAGCCAGGGCGGGGGGCACAT 0.604 20 865 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 37 775 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G rs151175979 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:47989890_47989891insG ENST00000371741.4 - 2 2372_2373 c.2206_2207insC c.(2206-2208)gtcfs p.V736fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 736 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCAGGAGACCGGGGGGGTGTC 0.559 8 142 --- --- --- --- MOCS3 27304 broad.mit.edu 37 20 49576707 49576708 + Frame_Shift_Ins INS - - G rs142791519 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:49576707_49576708insG ENST00000244051.1 + 1 1345_1346 c.1328_1329insG c.(1327-1329)gggfs p.G443fs NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 443 Rhodanese. enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CGGGATGTTGTGGGGGGCCTCA 0.475 7 414 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:50400982_50400983insC ENST00000217086.4 - 4 3094_3095 c.2983_2984insG c.(2983-2985)tccfs p.S995fs SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACTC 0.559 13 174 --- --- --- --- C20orf85 128602 broad.mit.edu 37 20 56735726 56735727 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:56735726_56735727insC ENST00000371168.3 + 4 323_324 c.262_263insC c.(262-264)cccfs p.P88fs NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 88 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) GGTCTTTCCATCCCCCCCAGTC 0.579 10 73 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 20 167 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37597905 37597906 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr21:37597905_37597906insC ENST00000399151.3 + 12 1498_1499 c.1413_1414insC c.(1411-1416)ccccccfs p.PP471fs NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 471 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GCGTCAGCCCTCCCCCCACGGT 0.540 7 426 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 12 326 --- --- --- --- PDE9A 5152 broad.mit.edu 37 21 44171249 44171250 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr21:44171249_44171250insT ENST00000291539.6 + 9 737_738 c.677_678insT c.(676-678)attfs p.I226fs PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 226 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 TGTAAGTACAGTTTTTTGGATA 0.520 8 1166 --- --- --- --- CECR1 51816 broad.mit.edu 37 22 17690423 17690424 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:17690423_17690424insC ENST00000399839.1 - 2 414_415 c.144_145insG c.(142-147)ggggctfs p.A49fs CECR1_ENST00000449907.2_Frame_Shift_Ins_p.A7fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.A49fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.A49fs Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 49 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AGCACCAGCCGCCCCCCCAGCC 0.540 7 66 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18020336 18020337 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:18020336_18020337insC ENST00000262608.8 + 13 1668_1669 c.1668_1669insC c.(1666-1671)ttccccfs p.FP556fs CECR2_ENST00000400585.2_Frame_Shift_Ins_p.FP414fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.FP555fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 597 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GAAAGTCGTTGCCCCCCACACG 0.639 7 162 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:18022285_18022286insC ENST00000262608.8 + 15 2390_2391 c.2390_2391insC c.(2389-2391)gccfs p.A797fs CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 14 589 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022443 18022444 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:18022443_18022444insG ENST00000262608.8 + 15 2548_2549 c.2548_2549insG c.(2548-2550)gggfs p.G850fs CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 891 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCAGGCTCTTCGGGGGGTGCAG 0.634 16 457 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:21138419_21138420insG ENST00000215727.5 + 3 1332_1333 c.1049_1050insG c.(1048-1050)gggfs p.G350fs PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.540 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 496 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 12 551 --- --- --- --- GAS2L1 10634 broad.mit.edu 37 22 29708272 29708273 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:29708272_29708273insG ENST00000406549.3 + 6 1301_1302 c.1151_1152insG c.(1150-1152)aggfs p.R384fs GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 393 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TGCCCTGGCATGGGGGGGCCAC 0.678 34 490 --- --- --- --- THOC5 8563 broad.mit.edu 37 22 29925230 29925231 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:29925230_29925231insG ENST00000490103.1 - 9 970 c.e9-2 CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACGTCTTATCTGGGGGGCAAGA 0.535 7 823 --- --- --- --- TIMP3 7078 broad.mit.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:33255323_33255324insC ENST00000266085.6 + 5 896_897 c.595_596insC c.(595-597)cccfs p.P199fs SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 199 negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 CCGAGGATGGGCCCCCCCGGAT 0.604 9 148 --- --- --- --- POLR2F 5435 broad.mit.edu 37 22 38363690 38363691 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:38363690_38363691insG ENST00000442738.2 + 5 477_478 c.352_353insG c.(352-354)gggfs p.G118fs POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron NM_021974.3 NP_068809.1 P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 118 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) CTATGAAGACTGGGGGGTGGAC 0.515 8 351 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 13 147 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40681766 40681767 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:40681766_40681767insC ENST00000454349.2 + 12 3911_3912 c.3700_3701insC c.(3700-3702)cccfs p.P1234fs TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1234 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCAGTTTATTTCCCCCCAGGTA 0.450 10 324 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41574678 41574679 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:41574678_41574679insC ENST00000263253.7 + 31 8182_8183 c.6963_6964insC c.(6961-6966)caccccfs p.HP2321fs RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2321 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CACAGTCCCAGCCCCCCCACTC 0.609 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 9 221 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGCTCCCCTGGGGGGGTCCA 0.564 35 795 --- --- --- --- TTLL1 25809 broad.mit.edu 37 22 43471583 43471584 + Frame_Shift_Ins INS - - C rs79088468 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:43471583_43471584insC ENST00000331018.7 - 3 249_250 c.9_10insG c.(7-12)ggaagtfs p.S4fs TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.S4fs|TTLL1_ENST00000266254.7_Frame_Shift_Ins_p.S4fs O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 4 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CATTTTACTTTCCCTGCCATAA 0.401 8 1478 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chr22:47188443_47188444insC ENST00000337137.4 + 2 255_256 c.89_90insC c.(88-90)cccfs p.P30fs TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 30 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 25 497 --- --- --- --- DHRSX 207063 broad.mit.edu 37 X 2343335 2343336 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:2343335_2343336insG ENST00000334651.5 - 2 171_172 c.119_120insC c.(118-120)ccgfs p.P40fs NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 40 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GGTCAGGTCGTGGGGGGAAAAC 0.455 9 341 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:37312610_37312611insC ENST00000542554.1 + 5 665_666 c.393_394insC c.(391-396)ccccccfs p.PP131fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 131 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TTATCACCCCACCCCCCCCACC 0.485 24 240 --- --- --- --- SLC9A7 84679 broad.mit.edu 37 X 46529118 46529118 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:46529118delA ENST00000328306.4 - 5 742 c.717delT c.(715-717)atfs p.I239fs NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 239 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GCTGTCCCATAATCTTCATGA 0.383 8 208 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 14 280 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 17 1983 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:48209462_48209463insG ENST00000298396.2 - 6 477_478 c.425_426insC c.(424-426)cggfs p.R142fs SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P142Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 TTGGTTTTCCCGGGGGGCACAG 0.495 9 436 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:48887951_48887952insC ENST00000315869.7 - 10 1704_1705 c.1445_1446insG c.(1444-1446)gccfs p.A482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCTGGGCAGGTCCCCCCCCTAC 0.649 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 30 286 --- --- --- --- IL2RG 3561 broad.mit.edu 37 X 70327613 70327614 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:70327613_70327614insG ENST00000374202.2 - 8 1173_1174 c.1082_1083insC c.(1081-1083)ctgfs p.L361fs IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 361 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGTGTAACATGGGGGGGCCCA 0.584 Severe Combined Immunodeficiency, X-linked 7 64 --- --- --- --- NOX1 27035 broad.mit.edu 37 X 100117691 100117692 + Frame_Shift_Ins INS - - C rs145552525 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:100117691_100117692insC ENST00000372966.3 - 5 660_661 c.455_456insG c.(454-456)gtcfs p.V152fs NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 152 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TTAGCCAAGAACCCCCCTTTTT 0.500 9 1066 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129146962 129146963 + Frame_Shift_Ins INS - - G rs141901231 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:129146962_129146963insG ENST00000540052.1 + 3 258_259 c.214_215insG c.(214-216)gggfs p.G72fs BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 72 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CAGCAATGCCCGGGGGGCAGAC 0.569 13 416 --- --- --- --- NSDHL 50814 broad.mit.edu 37 X 152037406 152037407 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 69e373e0-a10b-4728-af8d-a45ecdb39353 g.chrX:152037406_152037407insC ENST00000370274.3 + 8 1062_1063 c.868_869insC c.(868-870)cccfs p.P290fs NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.P290fs NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 290 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CAATTATGAGGCCCCCAAGTAC 0.559 7 1649 --- --- --- --- STPG1 90529 broad.mit.edu 37 1 24700193 24700194 + Splice_Site INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:24700193_24700194insG ENST00000374409.1 - 6 823_824 c.571_splice c.e6+1 p.R190_splice STPG1_ENST00000003583.8_Splice_Site_p.R143_splice|STPG1_ENST00000337248.4_Splice_Site_p.R190_splice|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Splice_Site_p.R143_splice NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 GCTGCTTACCTGGGGGAGGTCC 0.485 10 2473 --- --- --- --- WASF2 10163 broad.mit.edu 37 1 27736340 27736340 + Frame_Shift_Del DEL A A - rs71584884 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:27736340delA ENST00000430629.2 - 8 1400 c.1185delT c.(1183-1185)ccfs p.P400fs WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 400 Poly-Pro. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) gaggaggaggagggggaggag 0.642 15 157 --- --- --- --- ADC 113451 broad.mit.edu 37 1 33583704 33583705 + In_Frame_Ins INS - - TGG TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:33583704_33583705insTGG ENST00000294517.6 + 11 1818_1819 c.1231_1232insTGG c.(1231-1233)ccg>TGGccg p.410_411insW ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.410_411insW|ADC_ENST00000398167.1_In_Frame_Ins_p.430_431insW|ADC_ENST00000373441.1_In_Frame_Ins_p.430_431insW NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 410 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTATGCCATGTCCCGGGTGGCC 0.579 7 119 --- --- --- --- PTGFR 5737 broad.mit.edu 37 1 78958518 78958519 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:78958518_78958519insT ENST00000370756.3 + 2 327_328 c.90_91insT c.(88-93)gtttttfs p.VF30fs PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 30 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GGCTTTCCGTATTTTTTTCAGT 0.450 17 1740 --- --- --- --- PPM1J 333926 broad.mit.edu 37 1 113253630 113253631 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:113253630_113253631insT ENST00000464951.1 - 8 1899_1900 c.492_splice c.e8+1 p.S164_splice RP11-426L16.10_ENST00000471038.2_Intron|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.L52_splice|PPM1J_ENST00000309276.6_Splice_Site_p.S370_splice|PPM1J_ENST00000359994.4_Splice_Site_p.S164_splice Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 370 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAGTTTACCTTTTTGCCCTC 0.559 8 1803 --- --- --- --- SETDB1 9869 broad.mit.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:150917623_150917624insG ENST00000368962.2 + 9 1305_1306 c.1179_1180insG c.(1177-1182)ggggggfs p.GG393fs SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000459773.1_Intron NM_001243491.1 NP_001230420.1 Q15047 SETB1_HUMAN SET domain, bifurcated 1 0 Tudor 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAGGTTGGTGGGGGGGGAAC 0.475 10 91 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152282888 152282893 + In_Frame_Del DEL GTCCAC GTCCAC - rs143101193 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:152282888_152282893delGTCCAC ENST00000368799.1 - 3 4504_4509 c.4469_4474delGTGGAC c.(4468-4476)cac>c p.RGH1490del FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1490 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCCGGGTGTCCACGAATGGTGTC 0.583 Ichthyosis 14 631 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152283772 152283772 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:152283772delT ENST00000368799.1 - 3 3625 c.3590delA c.(3589-3591)ccfs p.H1197fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1197 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATGTGGTGTGGCTGTGATG 0.562 Ichthyosis 33 502 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152283860 152283865 + In_Frame_Del DEL GTGCAC GTGCAC - rs58001094 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:152283860_152283865delGTGCAC ENST00000368799.1 - 3 3532_3537 c.3497_3502delGTGCAC c.(3496-3504)cac>c p.RAH1166del FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1166 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCCGGGTGTGCACGAATGGTGTC 0.602 Ichthyosis 11 575 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156628493 156628494 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:156628493_156628494insC ENST00000329117.4 + 13 2932_2933 c.2596_2597insC c.(2596-2598)cccfs p.P866fs BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 866 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCGTTGGGAGGCCCCCCAGATC 0.604 8 273 --- --- --- --- RNASEL 6041 broad.mit.edu 37 1 182554908 182554909 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:182554908_182554909insC ENST00000367559.3 - 2 1286_1287 c.1033_1034insG c.(1033-1035)agcfs p.S345fs RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 345 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CTTCAGGGCTGCCCCCCAGTGT 0.455 8 255 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203668728 203668729 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:203668728_203668729insG ENST00000357681.5 + 4 1655_1656 c.532_533insG c.(532-534)gggfs p.G178fs ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.G178fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 178 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGCAATTCCGGGGGCTGCAG 0.510 9 908 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223395558 223395559 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr1:223395558_223395559insC ENST00000343846.3 - 8 2081_2082 c.1448_1449insG c.(1447-1449)accfs p.T483fs SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.T323fs|SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.T483fs Q5VX71 SUSD4_HUMAN sushi domain containing 4 483 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CCATTAGAGGAATCTCTGTAAA 0.406 64 599 --- --- --- --- SLC30A3 7781 broad.mit.edu 37 2 27478187 27478188 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:27478187_27478188insG ENST00000233535.4 - 8 1511_1512 c.1159_1160insC c.(1159-1161)agcfs p.S387fs SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.S382fs NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 387 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTCAGGCTTGGGGGGGTTCC 0.658 20 287 --- --- --- --- XDH 7498 broad.mit.edu 37 2 31598344 31598345 + Frame_Shift_Del DEL CA CA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:31598344_31598345delCA ENST00000379416.3 - 15 1551_1552 c.1503_1504delTG c.(1501-1506)ccgtfs p.PG501fs NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 501 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACCATGCCACCAGGGGCATCGG 0.604 17 110 --- --- --- --- B3GNT2 10678 broad.mit.edu 37 2 62449597 62449598 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:62449597_62449598insG ENST00000301998.4 + 2 494_495 c.242_243insG c.(241-243)aggfs p.R81fs B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.R81fs NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 81 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.T81T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) ACCAACCAGACGGGGGAGGCGG 0.554 7 2316 --- --- --- --- PLEK 5341 broad.mit.edu 37 2 68622886 68622887 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:68622886_68622887insC ENST00000234313.7 + 9 1170_1171 c.991_992insC c.(991-993)cccfs p.P331fs NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 331 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCAAGCAGCCACCCCCAAGGAG 0.540 8 740 --- --- --- --- NAT8 9027 broad.mit.edu 37 2 73868608 73868609 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:73868608_73868609insC ENST00000272425.3 - 2 296_297 c.147_148insG c.(145-150)ggccctfs p.GP49fs NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 49 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 AGGGCGAGGGGCCCCCCAAGTA 0.614 8 593 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 6 --- --- --- --- ATG16L1 55054 broad.mit.edu 37 2 234171866 234171866 + Frame_Shift_Del DEL C C - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr2:234171866delC ENST00000392017.4 + 3 557 c.300delC c.(298-300)cafs p.H100fs ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 100 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) CTGAATTACACAAGAAACGTG 0.502 10 44 --- --- --- --- VHL 7428 broad.mit.edu 37 3 10188268 10188269 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:10188268_10188269insC ENST00000256474.2 + 2 1251_1252 c.411_412insC c.(409-414)gtcatcfs p.I138fs VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 138 Involved in binding to CCT complex. anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.P138fs*1(2) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) AATTATTTGTGCCATCTCTCAA 0.421 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 78 139 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14538073 14538073 + RNA DEL A A - rs11333211 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:14538073delA ENST00000273083.3 - 0 2744 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGATGCCTGCAAGGAACACGG 0.607 8 146 --- --- --- --- CADPS 8618 broad.mit.edu 37 3 62459994 62459995 + Splice_Site INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:62459994_62459995insA ENST00000383710.4 - 24 3679_3680 c.3329_splice c.e24-1 p.Q1111_splice CADPS_ENST00000283269.9_Splice_Site_p.Q1072_splice|CADPS_ENST00000357948.3_Splice_Site_p.Q1032_splice NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1111 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCAATCCTGGTTCTATTAAAAC 0.396 24 144 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87018182 87018183 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:87018182_87018183insC ENST00000398399.2 - 3 857_858 c.494_495insG c.(493-495)ggtfs p.G165fs VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGGATGAACTCCCCCCAAACA 0.579 9 325 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129183576 129183577 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:129183576_129183577insG ENST00000296266.3 + 8 860_861 c.668_669insG c.(667-669)cggfs p.R223fs IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 172 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.P223P(1) 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 ATCGAGCGGCCGGGGGGCTCCC 0.505 8 324 --- --- --- --- PLXND1 23129 broad.mit.edu 37 3 129324871 129324872 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:129324871_129324872insC ENST00000393239.1 - 1 789_790 c.611_612insG c.(610-612)gagfs p.E204fs PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E204fs Q9Y4D7 PLXD1_HUMAN plexin D1 204 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GCAGGCGGCTgccccccgcgcc 0.708 2 4 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130281934 130281935 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:130281934_130281935insT ENST00000358511.6 + 2 118_119 c.87_88insT c.(85-90)gtttttfs p.VF29fs COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.VF29fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 29 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CAGATGTTGTGTTTTTGGTGGA 0.431 8 723 --- --- --- --- STAG1 10274 broad.mit.edu 37 3 136141378 136141379 + Frame_Shift_Del DEL AC AC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:136141378_136141379delAC ENST00000383202.2 - 19 2166_2167 c.1910_1911delGT c.(1909-1911)afs p.S637fs STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 637 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TATAGGTTTTACTGCAGGCTTC 0.371 33 108 --- --- --- --- KPNA4 3840 broad.mit.edu 37 3 160245789 160245789 + Frame_Shift_Del DEL G G - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:160245789delG ENST00000334256.4 - 8 813 c.508delC c.(508-510)atfs p.H170fs NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 170 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ACATTCTGATGGGGTGAATGG 0.348 48 51 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165547909 165547915 + Frame_Shift_Del DEL CTTCATT CTTCATT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:165547909_165547915delCTTCATT ENST00000264381.3 - 2 1073_1079 c.907_913delAATGAAG c.(907-915)cafs p.NEA303fs BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 303 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ACAACAAATGCTTCATTCAGAAGAATT 0.401 33 123 --- --- --- --- LPP 4026 broad.mit.edu 37 3 188478066 188478066 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr3:188478066delA ENST00000312675.4 + 8 1652 c.1406delA c.(1405-1407)tcfs p.Y469fs LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 469 LIM zinc-binding 1. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GAGCCCTGCTACATTGTAAGT 0.453 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 11 250 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2674078 2674079 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:2674078_2674079insC ENST00000324666.5 + 11 1788_1789 c.1437_1438insC c.(1435-1440)acccccfs p.TP479fs FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.TP501fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 479 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGTATGCAACGCCCCCCTTCAC 0.510 7 258 --- --- --- --- CORIN 10699 broad.mit.edu 37 4 47676518 47676519 + Splice_Site INS - - TT TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:47676518_47676519insTT ENST00000273857.4 - 10 1249 c.e10-1 CORIN_ENST00000504584.1_Splice_Site|CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GAAGTCTGAACTACAGAGGGAG 0.441 56 421 --- --- --- --- C4orf32 132720 broad.mit.edu 37 4 113107915 113107916 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:113107915_113107916insT ENST00000309733.4 + 2 404_405 c.220_221insT c.(220-222)tttfs p.F74fs NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 74 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) AATGGGAACACTTTTTGGTGAA 0.366 8 760 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:134071648_134071649insC ENST00000264360.4 + 1 1179_1180 c.353_354insC c.(352-354)accfs p.T118fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S121fs*13(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTAATGACAACCCCCCCTCTT 0.604 7 213 --- --- --- --- SNX25 83891 broad.mit.edu 37 4 186188239 186188240 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr4:186188239_186188240insC ENST00000504273.1 + 5 823_824 c.529_530insC c.(529-531)cccfs p.P177fs SNX25_ENST00000264694.8_Frame_Shift_Ins_p.P177fs Q9H3E2 SNX25_HUMAN sorting nexin 25 177 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CTACACCTATGCCCCCTCTTAC 0.441 10 381 --- --- --- --- ZNF366 167465 broad.mit.edu 37 5 71739905 71739906 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:71739905_71739906insG ENST00000318442.5 - 5 2402_2403 c.1912_1913insC c.(1912-1914)gagfs p.E638fs NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CTGCTGGCTCTGGGGGGCCAGG 0.653 7 607 --- --- --- --- CEP120 153241 broad.mit.edu 37 5 122713212 122713213 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:122713212_122713213insT ENST00000306467.5 - 16 2517_2518 c.2213_2214insA c.(2212-2214)agafs p.R738fs CEP120_ENST00000306481.6_Frame_Shift_Ins_p.R712fs|CEP120_ENST00000328236.5_Frame_Shift_Ins_p.R738fs Q8N960 CE120_HUMAN centrosomal protein 120kDa 738 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ATTGCAGTTCCTTTTTTTCTCT 0.391 9 290 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132432907 132432907 + Frame_Shift_Del DEL G G - rs143003242 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:132432907delG ENST00000304858.2 + 15 2147 c.1858delG c.(1858-1860)cafs p.A620fs NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 620 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAAGAACGCAGTGGAGGA 0.373 14 580 --- --- --- --- WWC1 23286 broad.mit.edu 37 5 167850576 167850577 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr5:167850576_167850577insC ENST00000265293.4 + 11 1815_1816 c.1313_1314insC c.(1312-1314)accfs p.T438fs WWC1_ENST00000521089.1_Frame_Shift_Ins_p.T438fs NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 438 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCAGGCAGCAGCCCCGGATCCC 0.614 7 2448 --- --- --- --- GPR115 221393 broad.mit.edu 37 6 47680115 47680115 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:47680115delT ENST00000283303.2 + 5 581 c.323delT c.(322-324)ctfs p.L108fs GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 108 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCATCTCGCCTTTCTGTAGCA 0.408 293 192 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55113573 55113574 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:55113573_55113574insT ENST00000370862.3 + 2 696_697 c.360_361insT c.(358-363)tgttttfs p.CF120fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 120 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGAGACCTGGTTTTTTGGACA 0.431 11 646 --- --- --- --- DST 667 broad.mit.edu 37 6 56471391 56471392 + Frame_Shift_Del DEL AG AG - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:56471391_56471392delAG ENST00000370754.5 - 39 7934_7935 c.7935_7936delCT c.(7933-7938)agtafs p.SL2645fs DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Frame_Shift_Del_p.SL2467fs|DST_ENST00000312431.6_Frame_Shift_Del_p.SL2467fs|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Frame_Shift_Del_p.SL2467fs|DST_ENST00000446842.2_Frame_Shift_Del_p.SL2141fs Q03001 DYST_HUMAN dystonin 2467 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCACACTTAAGCTACCAACTG 0.386 10 112 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75827102 75827103 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:75827102_75827103insT ENST00000322507.8 - 47 7823_7824 c.7514_7515insA c.(7513-7515)atcfs p.I2505fs COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.I1341fs|COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.I2505fs NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2505 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ACTTACTTGAAGTGGCAGTTTC 0.381 15 155 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75866087 75866088 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr6:75866087_75866088insG ENST00000322507.8 - 15 3444_3445 c.3135_3136insC c.(3133-3138)cccagtfs p.S1046fs COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.S1046fs NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1046 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.T1046fs*7(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GAAGTGACTGTGGGGGGCACCT 0.490 10 245 --- --- --- --- GPNMB 10457 broad.mit.edu 37 7 23306134 23306135 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:23306134_23306135insT ENST00000381990.2 + 7 1214_1215 c.1053_1054insT c.(1051-1056)ccgaccfs p.T352fs GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.T294fs|GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000258733.4_Splice_Site NM_001005340.1|NM_002510.2 NP_001005340.1|NP_002501.1 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 352 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CAAACACCCCAGGACCTGCTGG 0.386 7 108 --- --- --- --- HOXA9 3205 broad.mit.edu 37 7 27203289 27203289 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:27203289delT ENST00000343483.6 - 2 824 c.752delA c.(751-753)agfs p.K251fs RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 251 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 GAACCAGATCTTGACCTGCCT 0.483 T """NUP98, MSI2""" AML* 7 495 --- --- --- --- NPSR1 387129 broad.mit.edu 37 7 34888227 34888228 + Frame_Shift_Ins INS - - C rs139125527 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:34888227_34888228insC ENST00000360581.1 + 8 1105_1106 c.977_978insC c.(976-978)accfs p.T326fs NPSR1_ENST00000381539.3_Frame_Shift_Ins_p.T326fs|NPSR1_ENST00000359791.1_Frame_Shift_Ins_p.T326fs|NPSR1_ENST00000531252.1_Frame_Shift_Ins_p.T315fs|NPSR1_ENST00000381542.1_Frame_Shift_Ins_p.T260fs NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 326 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AGTGCCATCAACCCCCTCATCT 0.500 7 635 --- --- --- --- EPHB4 2050 broad.mit.edu 37 7 100404119 100404120 + Frame_Shift_Ins INS - - CTGA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:100404119_100404120insCTGA ENST00000358173.3 - 14 2874_2875 c.2406_2407insTCAG c.(2404-2409)gacctgfs p.L803fs EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.L803fs NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 803 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TAACTCCAGGCATCACTGGCGG 0.554 33 994 --- --- --- --- DOCK4 9732 broad.mit.edu 37 7 111418424 111418425 + Splice_Site INS - - GA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr7:111418424_111418425insGA ENST00000428084.1 - 36 3858_3859 c.3585_splice c.e36-1 p.L1196_splice DOCK4_ENST00000494651.2_Splice_Site_p.L70_splice|DOCK4_ENST00000437633.1_Splice_Site_p.L1187_splice Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1187 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CTTATAGAAGTTCTGTAAAAAA 0.381 14 220 --- --- --- --- SORBS3 10174 broad.mit.edu 37 8 22414410 22414411 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr8:22414410_22414411insC ENST00000240123.7 + 4 786_787 c.403_404insC c.(403-405)cccfs p.P135fs SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.P135fs NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 135 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CATGCCCATTGCCCCCCGATCC 0.634 12 421 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100887780 100887781 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr8:100887780_100887781insC ENST00000358544.2 + 62 12066_12067 c.11955_11956insC c.(11953-11958)ccccccfs p.PP3985fs VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Ins_p.PP3960fs NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3985 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGCAGAACCTCCCCCCTCCAC 0.465 11 294 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27172694 27172695 + Frame_Shift_Del DEL AC AC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr9:27172694_27172695delAC ENST00000380036.4 + 5 1151_1152 c.709_710delAC c.(709-711)tfs p.T237fs TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 237 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCATGAAGATACTGGAGAATGC 0.436 22 178 --- --- --- --- TSTD2 158427 broad.mit.edu 37 9 100389762 100389763 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr9:100389762_100389763insG ENST00000341170.4 - 2 464_465 c.82_83insC c.(82-84)gagfs p.E28fs TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 28 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AATAAGACTCATATCTTTTAAA 0.376 16 331 --- --- --- --- CDK5RAP2 55755 broad.mit.edu 37 9 123169393 123169394 + Frame_Shift_Del DEL CT CT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr9:123169393_123169394delCT ENST00000349780.4 - 32 5038_5039 c.4859_4860delAG c.(4858-4860)afs p.K1620fs CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1620 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CCAGCTGTTCCTTGAGCCTGCT 0.594 37 682 --- --- --- --- PRKCQ 5588 broad.mit.edu 37 10 6506351 6506352 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:6506351_6506352insA ENST00000263125.5 - 13 1467_1468 c.1368_1369insT c.(1366-1371)tttgatfs p.D457fs PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.D332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.D457fs NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 457 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TACTCCATCACAAAAAAGAGGT 0.401 13 1167 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 32 35 --- --- --- --- ZFYVE27 118813 broad.mit.edu 37 10 99504492 99504499 + Frame_Shift_Del DEL GGTACTCA GGTACTCA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr10:99504492_99504499delGGTACTCA ENST00000393677.4 + 4 479_486 c.275_282delGGTACTCA c.(274-282)tfs p.WYS92fs ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000357540.4_Intron NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 92 cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) GCAGGTGCATGGTACTCAGTAGGTGCCC 0.577 8 134 --- --- --- --- CARS 833 broad.mit.edu 37 11 3023250 3023251 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:3023250_3023251insG ENST00000397114.3 - 22 2407_2408 c.2031_2032insC c.(2029-2034)ccgtgafs p.*678fs CARS_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs|CARS_ENST00000401769.3_Frame_Shift_Ins_p.*701fs P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 688 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) AACATCTCACTGGGGGGAATCT 0.495 T ALK ALCL 9 1015 --- --- --- --- FAM160A2 84067 broad.mit.edu 37 11 6244063 6244064 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:6244063_6244064insC ENST00000265978.4 - 5 1358_1359 c.1000_1001insG c.(1000-1002)catfs p.H334fs FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H334fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H334fs NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 334 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGACCCATGACAGGCACCAGG 0.545 17 752 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20067148 20067149 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:20067148_20067149insA ENST00000396085.1 + 14 4195_4196 c.3834_3835insA c.(3832-3837)tcgtccfs p.S1279fs NAV2_ENST00000396087.3_Frame_Shift_Ins_p.S1302fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1302 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGCCTGTGTCCAGTCCGGCTCA 0.545 11 176 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:32637520delT ENST00000335185.5 - 15 1384 c.1341delA c.(1339-1341)aafs p.K447fs CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 447 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ATGAGCCTTCTTTTTTTTCTT 0.249 2 4 --- --- --- --- ACCSL 390110 broad.mit.edu 37 11 44080010 44080011 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:44080010_44080011insT ENST00000378832.1 + 12 1526 c.e12+1 NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CTTGAAAAAGGTGTGTTCTGGG 0.535 17 283 --- --- --- --- OR5M1 390168 broad.mit.edu 37 11 56380547 56380550 + Frame_Shift_Del DEL CAGA CAGA - rs71931749 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:56380547_56380550delCAGA ENST00000526538.1 - 1 428_431 c.429_432delTCTG c.(427-432)tgfs p.CL143fs NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GGATAGTGACCAGACAGACACAGA 0.436 25 290 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118495753 118495754 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:118495753_118495754insC ENST00000361417.2 + 6 870_871 c.459_460insC c.(457-462)ggccccfs p.GP153fs PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 153 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GAGCCCCTGGGCCCCCCTACAG 0.609 8 554 --- --- --- --- GLB1L3 112937 broad.mit.edu 37 11 134181004 134181005 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr11:134181004_134181005insC ENST00000431683.2 + 13 1227_1228 c.1227_1228insC c.(1225-1230)taccccfs p.YP409fs NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 409 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) AGGCTGTGTATCCCCCCGTGAG 0.604 14 1559 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2968087 2968088 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:2968087_2968088insG ENST00000342628.2 - 10 2235_2236 c.2122_2123insC c.(2122-2124)tgafs p.*708fs FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CGGTGATTCAAGGGGGGGAGCA 0.579 9 228 --- --- --- --- KRT85 3891 broad.mit.edu 37 12 52760911 52760912 + Frame_Shift_Ins INS - - G rs143575567 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:52760911_52760912insG ENST00000257901.3 - 1 353_354 c.278_279insC c.(277-279)ctgfs p.L93fs NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 93 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TAGTGATGCATGGGGGGCTGGG 0.673 9 717 --- --- --- --- SP1 6667 broad.mit.edu 37 12 53776725 53776727 + In_Frame_Del DEL ACC ACC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:53776725_53776727delACC ENST00000426431.2 + 3 1033_1035 c.973_975delACC c.(973-975)del p.T326del SP1_ENST00000327443.4_In_Frame_Del_p.T333del NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 333 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) AACTACTACTACCACCAGCAACA 0.502 9 174 --- --- --- --- RP11-13A1.3 0 broad.mit.edu 37 12 89462551 89462552 + RNA INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:89462551_89462552insA ENST00000549278.1 - 0 282 agacagaatataaaaaagggag 0.406 2 4 --- --- --- --- SDSL 113675 broad.mit.edu 37 12 113872000 113872001 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:113872000_113872001insC ENST00000403593.4 + 5 678_679 c.416_417insC c.(415-417)gccfs p.A139fs SDSL_ENST00000345635.4_Frame_Shift_Ins_p.A139fs Q96GA7 SDSL_HUMAN serine dehydratase-like 139 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) TGGGAGAATGTCCCCCCGTTTG 0.614 7 924 --- --- --- --- RNF34 80196 broad.mit.edu 37 12 121855615 121855616 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:121855615_121855616insT ENST00000361234.5 + 3 706_707 c.534_535insT c.(532-537)tcttttfs p.SF178fs RNF34_ENST00000392464.2_Frame_Shift_Ins_p.SF178fs|RNF34_ENST00000392465.3_Frame_Shift_Ins_p.SF179fs|RNF34_ENST00000555076.1_Intron NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 178 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TTACACGTTCGTTTTTTTCAAA 0.470 8 392 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124846815 124846816 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr12:124846815_124846816insG ENST00000356219.3 - 23 3108_3109 c.2953_2954insC c.(2953-2955)ggafs p.G985fs NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G539fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G969fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G986fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G968fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 986 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGCGTCCTCCCGGGGGGGCTCA 0.653 2 4 --- --- --- --- CENPJ 55835 broad.mit.edu 37 13 25480659 25480660 + In_Frame_Ins INS - - AAA TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr13:25480659_25480660insAAA ENST00000381884.4 - 7 1701_1702 c.1516_1517insTTT c.(1516-1518)tcc>TTTtcc p.505_506insF CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 505 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AGGTTTTGGACACTCAGTTACA 0.436 7 176 --- --- --- --- FLT3 2322 broad.mit.edu 37 13 28608071 28608072 + Frame_Shift_Ins INS - - CC TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr13:28608071_28608072insCC ENST00000380982.4 - 15 1975_1976 c.1894_1895insGG c.(1894-1896)tagfs p.*632fs FLT3_ENST00000537084.1_Frame_Shift_Ins_p.*632fs|FLT3_ENST00000241453.7_Frame_Shift_Ins_p.*632fs P36888 FLT3_HUMAN fms-related tyrosine kinase 3 632 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTTTGCTAATTCCATAAGCT 0.426 """Mis, O""" """AML, ALL""" 115 1248 --- --- --- --- CPB2 1361 broad.mit.edu 37 13 46658415 46658416 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr13:46658415_46658416insA ENST00000181383.4 - 3 229_230 c.213_214insT c.(211-216)tttaaafs p.K72fs CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 72 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GATGCATTTACAAAAAAATGGA 0.361 7 265 --- --- --- --- DHRS4L1 728635 broad.mit.edu 37 14 24518025 24518025 + RNA DEL G G - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:24518025delG ENST00000558293.1 + 0 668 NR_102693.1 dehydrogenase/reductase (SDR family) member 4 like 1 AGGATGGTGAGGAAGGGGAGC 0.537 7 617 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24885703 24885708 + In_Frame_Del DEL GCAGGA GCAGGA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:24885703_24885708delGCAGGA ENST00000382554.3 + 9 5066_5071 c.4748_4753delGCAGGA c.(4747-4755)tgc>t p.CRS1583del NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1583 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAAGATTACTGCAGGAGCTGCTTGTT 0.583 13 53 --- --- --- --- PAX9 5083 broad.mit.edu 37 14 37145441 37145442 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:37145441_37145442insC ENST00000361487.6 + 4 1035_1036 c.810_811insC c.(808-813)tccatcfs p.I271fs PAX9_ENST00000402703.2_Frame_Shift_Ins_p.I271fs|PAX9_ENST00000554201.1_Frame_Shift_Ins_p.P80fs|PAX9_ENST00000557107.1_3'UTR P55771 PAX9_HUMAN paired box 9 271 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GTTTTGTGTCAGCATCCAGCAT 0.485 17 428 --- --- --- --- NPC2 10577 broad.mit.edu 37 14 74947387 74947388 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:74947387_74947388insC ENST00000557510.1 - 4 530_531 c.458_459insG c.(457-459)ggafs p.G153fs NPC2_ENST00000555619.1_Intron|NPC2_ENST00000541064.1_Intron|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron P61916 NPC2_HUMAN Niemann-Pick disease, type C2 0 cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) ATGCCCTCTCACCCCCAGATAG 0.450 7 855 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818753 105818754 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr14:105818753_105818754insC ENST00000447393.1 + 3 421_422 c.246_247insC c.(244-249)ctccccfs p.LP82fs PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000325438.8_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.LP15fs NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 82 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGATTGTGCTGCCCCCCAGTGG 0.550 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 666 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25449554 25449564 + RNA DEL AAATCATTCTC AAATCATTCTC - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:25449554_25449564delAAATCATTCTC ENST00000424208.1 + 0 2339 SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA NR_003305.1 GATGACTTAAAAATCATTCTCAAAAGGATTA 0.512 24 173 --- --- --- --- PRTG 283659 broad.mit.edu 37 15 55912218 55912219 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:55912218_55912219insG ENST00000389286.4 - 20 3491_3492 c.3444_3445insC c.(3442-3447)ccacctfs p.P1149fs NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1149 multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AATCAGAGGTTGGGGGGTGTGG 0.490 8 272 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89871987 89871988 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:89871987_89871988insC ENST00000268124.5 - 5 1431_1432 c.1098_1099insG c.(1096-1101)ggctccfs p.S367fs POLG_ENST00000442287.2_Frame_Shift_Ins_p.S367fs NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 367 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TCTAAGGGAGGCCCCCCTACAT 0.559 DNA polymerases (catalytic subunits) 7 450 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91424956 91424957 + Frame_Shift_Ins INS - - G rs35641241 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:91424956_91424957insG ENST00000268171.3 + 16 2512_2513 c.2233_2234insG c.(2233-2235)gggfs p.G745fs NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 745 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.R745L(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTTAGTTTTCGGGGGGTGAAG 0.619 13 673 --- --- --- --- LINS 55180 broad.mit.edu 37 15 101109855 101109856 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr15:101109855_101109856insG ENST00000314742.8 - 7 2083_2084 c.1861_1862insC c.(1861-1863)ggcfs p.G621fs NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 621 p.R621fs*13(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TTGAGAGGCCCGGGGGGAAGAC 0.525 7 755 --- --- --- --- DPEP2 64174 broad.mit.edu 37 16 68021467 68021468 + Frame_Shift_Ins INS - - G rs1133090 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr16:68021467_68021468insG ENST00000412757.2 - 12 2067_2068 c.1402_1403insC c.(1402-1404)catfs p.H468fs DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs Q9H4A9 DPEP2_HUMAN dipeptidase 2 468 H -> D (in dbSNP:rs1133090). hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGGGGCCATGTGGGGGGAGGAC 0.545 17 1237 --- --- --- --- NFATC3 4775 broad.mit.edu 37 16 68225520 68225521 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr16:68225520_68225521insG ENST00000349223.5 + 9 3172_3173 c.2948_2949insG c.(2947-2949)cggfs p.R983fs NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.R983fs NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 983 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGTACGGGCCAGGGGGGTCTTT 0.505 8 1235 --- --- --- --- SLC7A6 9057 broad.mit.edu 37 16 68325529 68325530 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr16:68325529_68325530insG ENST00000566454.1 + 8 1256_1257 c.987_988insG c.(985-990)ttggggfs p.LG329fs SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.LG329fs NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 329 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) TGTCCTGCTTTGGGGGCCTCAA 0.490 8 1945 --- --- --- --- SLC35G6 643664 broad.mit.edu 37 17 7386029 7386030 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:7386029_7386030insC ENST00000412468.2 + 2 841_842 c.726_727insC c.(724-729)caccccfs p.HP242fs ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 242 integral to membrane p.P243S(1) TTGTGCTGCAGCCCCCCGTGTT 0.599 7 290 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8218831 8218832 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:8218831_8218832insC ENST00000361926.3 + 7 1470_1471 c.1360_1361insC c.(1360-1362)cccfs p.P454fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P454fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 454 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GGACACGCTCACCCCCCGTGAT 0.629 9 888 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:8224297_8224298insC ENST00000361926.3 + 16 2622_2623 c.2512_2513insC c.(2512-2514)cccfs p.P838fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 838 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CACCCCCAATGCCCCCCCACCC 0.574 16 212 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11687648 11687649 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:11687648_11687649insG ENST00000262442.3 + 41 7921_7922 c.7853_7854insG c.(7852-7854)cggfs p.R2618fs DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.R2618fs NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2618 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P2618P(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCTCCTTCCCGGGGGCAGATG 0.530 8 720 --- --- --- --- TRIM16L 147166 broad.mit.edu 37 17 18638351 18638351 + Frame_Shift_Del DEL T T - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:18638351delT ENST00000449552.2 + 7 2109 c.625delT c.(625-627)acfs p.Y209fs TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs Q309B1 TR16L_HUMAN tripartite motif containing 16-like 209 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 GCAGAGTCTGTACCTGCACAG 0.612 8 87 --- --- --- --- RPL23 9349 broad.mit.edu 37 17 37008858 37008859 + Splice_Site INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:37008858_37008859insT ENST00000479035.2 - 3 356_357 c.226_splice c.e3+1 p.S75_splice RPL23_ENST00000245857.5_Splice_Site_p.S16_splice|RPL23_ENST00000394333.1_Splice_Site_p.S75_splice|RPL23_ENST00000394332.1_Splice_Site_p.S75_splice|RPL23_ENST00000577407.1_Splice_Site_p.S75_splice NM_000978.3 NP_000969.1 P62829 RL23_HUMAN ribosomal protein L23 75 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome endometrium(2)|large_intestine(1) 3 TTTACTCACCCTTTTTTCTGAG 0.485 7 619 --- --- --- --- STAC2 342667 broad.mit.edu 37 17 37373352 37373353 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:37373352_37373353insA ENST00000333461.5 - 3 840_841 c.471_472insT c.(469-474)tcaccafs p.P158fs NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 158 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CATTGCTGGTGGGAGATCTCCT 0.550 12 120 --- --- --- --- SMARCE1 6605 broad.mit.edu 37 17 38787144 38787145 + In_Frame_Ins INS - - ACT TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:38787144_38787145insACT ENST00000348513.6 - 10 1628_1629 c.848_849insAGT c.(847-849)gaa>gAGTaa p.283_284ins* SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266ins*|SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214ins*|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 283 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) CTGCAATTTTCTCCATATCCAC 0.450 10 189 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 10 128 --- --- --- --- CLTC 1213 broad.mit.edu 37 17 57733326 57733327 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:57733326_57733327insT ENST00000269122.3 + 6 1181_1182 c.907_908insT c.(907-909)tttfs p.F303fs CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.F303fs NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 303 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGGAGAAACAATTTTTGTTACT 0.371 T """ALK, TFE3""" """ALCL, renal """ 222 155 --- --- --- --- PRKCA 5578 broad.mit.edu 37 17 64683327 64683328 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:64683327_64683328insA ENST00000413366.3 + 6 654_655 c.628_629insA c.(628-630)aaafs p.K210fs NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 210 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TGAAAGCAAGCAAAAAACCAAA 0.401 9 370 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73493880 73493881 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:73493880_73493881insC ENST00000314256.7 + 27 3820_3821 c.3426_3427insC c.(3424-3429)aaccccfs p.NP1142fs KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1142 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCTGGGGAAGCCCCCCCATAG 0.520 89 2207 --- --- --- --- RNF157 114804 broad.mit.edu 37 17 74155492 74155493 + Frame_Shift_Ins INS - - G rs111326194 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:74155492_74155493insG ENST00000269391.6 - 12 1359_1360 c.1227_1228insC c.(1225-1230)cctcagfs p.Q410fs RNF157_ENST00000319945.6_Frame_Shift_Ins_p.Q410fs NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 410 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) ATCGTCCTGACGGGGGGCAGGT 0.584 7 255 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80758858 80758860 + Translation_Start_Site DEL GGT GGT - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr17:80758858_80758860delGGT ENST00000397466.2 + 0 1045_1047 TBCD_ENST00000539345.2_In_Frame_Del_p.KV312del|TBCD_ENST00000355528.4_In_Frame_Del_p.KV312del Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGAAGCCGAAGGTGGCAGCATGG 0.675 7 36 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13113612 13113613 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr18:13113612_13113613insG ENST00000506447.1 + 41 7155_7156 c.7075_7076insG c.(7075-7077)gggfs p.G2359fs CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1954 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCCAGAGGTAGGGGGGATTAT 0.426 7 309 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29437545 29437546 + Frame_Shift_Ins INS - - GG TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr18:29437545_29437546insGG ENST00000283351.4 - 20 3480_3481 c.3145_3146insCC c.(3145-3147)tttfs p.F1049fs TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1049 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTAAAACAAAAAGTTAATTTCA 0.376 19 149 --- --- --- --- ATP8B1 5205 broad.mit.edu 37 18 55317669 55317669 + Frame_Shift_Del DEL G G - rs112600442 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr18:55317669delG ENST00000536015.1 - 27 3580 c.3461delC c.(3460-3462)gtfs p.A1154fs RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000591854.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1154 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TAAGCACACAGCAACAGCCAG 0.433 21 400 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538452 4538453 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:4538452_4538453insG ENST00000306390.6 - 2 1003_1004 c.543_544insC c.(541-546)ccggctfs p.A182fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 182 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCAGCCCGGGGGGCAGTT 0.619 9 369 --- --- --- --- ZNRF4 148066 broad.mit.edu 37 19 5456529 5456530 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:5456529_5456530insC ENST00000222033.4 + 1 1104_1105 c.1027_1028insC c.(1027-1029)cccfs p.P343fs NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 343 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTTCTCCCAAGCCCCCCGGCGC 0.609 7 210 --- --- --- --- AP1M1 8907 broad.mit.edu 37 19 16314383 16314384 + Frame_Shift_Ins INS - - G rs146546344 byFrequency TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:16314383_16314384insG ENST00000291439.3 + 2 605_606 c.156_157insG c.(154-159)caggggfs p.QG52fs AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 52 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TCCTGGCCCACGGGGGGGTCCG 0.594 11 371 --- --- --- --- HAUS5 23354 broad.mit.edu 37 19 36113838 36113840 + In_Frame_Del DEL CCA CCA - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:36113838_36113840delCCA ENST00000203166.5 + 19 1870_1872 c.1845_1847delCCA c.(1843-1848)ccg>cc p.PQ615del HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 615 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 TGTCCCTGCCCCAGTGGCGGCTG 0.655 13 121 --- --- --- --- ZBTB32 27033 broad.mit.edu 37 19 36205537 36205538 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:36205537_36205538insC ENST00000392197.2 + 3 327_328 c.9_10insC c.(7-12)ctccccfs p.LP3fs ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.LP3fs Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 3 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAATGTCCCTGCCCCCCATAAG 0.569 7 547 --- --- --- --- HCST 10870 broad.mit.edu 37 19 36393526 36393527 + Frame_Shift_Ins INS - - T TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:36393526_36393527insT ENST00000246551.4 + 1 145_146 c.31_32insT c.(31-33)tttfs p.F11fs HCST_ENST00000437550.2_Frame_Shift_Ins_p.F11fs Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer 11 regulation of immune response integral to membrane|plasma membrane lung(4) 4 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCTTCCTGCTTTTGCTCCCA 0.584 9 1375 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40433028 40433028 + Frame_Shift_Del DEL C C - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:40433028delC ENST00000221347.6 - 2 1248 c.1241delG c.(1240-1242)gafs p.G414fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 414 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTGAGCAGTCCCAAGTTGGT 0.597 19 187 --- --- --- --- EHD2 30846 broad.mit.edu 37 19 48244286 48244287 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:48244286_48244287insG ENST00000263277.3 + 6 1480_1481 c.1229_1230insG c.(1228-1230)cggfs p.R410fs EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Ins_p.R274fs NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 410 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GTGGGCGTGCAGGGGGGCGCTT 0.673 8 271 --- --- --- --- CPT1C 126129 broad.mit.edu 37 19 50216300 50216301 + Frame_Shift_Ins INS - - A TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:50216300_50216301insA ENST00000392518.4 + 19 2577_2578 c.2205_2206insA c.(2203-2208)agaaaafs p.RK735fs CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.RK735fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.RK724fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.RK646fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.RK735fs NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 735 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) ACATCTCCAGCAAAAAATCAAG 0.505 8 1054 --- --- --- --- ZNF528 84436 broad.mit.edu 37 19 52919519 52919519 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:52919519delA ENST00000360465.3 + 7 1840 c.1414delA c.(1414-1416)aafs p.K472fs ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AGAATGTGGCAAAGTCTTCAG 0.398 9 358 --- --- --- --- KIR2DL4 3805 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 11 1376 --- --- --- --- TBC1D10A 83874 broad.mit.edu 37 22 30691731 30691732 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr22:30691731_30691732insC ENST00000215790.7 - 4 682_683 c.518_519insG c.(517-519)gcafs p.A173fs RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.A47fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.A85fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.A180fs NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 173 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTCACCCGTGGCCCCCCCGGGA 0.609 7 122 --- --- --- --- POLR2F 5435 broad.mit.edu 37 22 38363690 38363691 + Frame_Shift_Ins INS - - G TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr22:38363690_38363691insG ENST00000442738.2 + 5 477_478 c.352_353insG c.(352-354)gggfs p.G118fs POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000484894.1_Intron NM_021974.3 NP_068809.1 P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 118 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) CTATGAAGACTGGGGGGTGGAC 0.515 8 351 --- --- --- --- TTLL1 25809 broad.mit.edu 37 22 43471583 43471584 + Frame_Shift_Ins INS - - C rs79088468 TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chr22:43471583_43471584insC ENST00000331018.7 - 3 249_250 c.9_10insG c.(7-12)ggaagtfs p.S4fs TTLL1_ENST00000266254.7_Frame_Shift_Ins_p.S4fs|TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.S4fs O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 4 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CATTTTACTTTCCCTGCCATAA 0.401 8 1478 --- --- --- --- SLC9A7 84679 broad.mit.edu 37 X 46529118 46529118 + Frame_Shift_Del DEL A A - TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chrX:46529118delA ENST00000328306.4 - 5 742 c.717delT c.(715-717)atfs p.I239fs NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 239 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GCTGTCCCATAATCTTCATGA 0.383 8 208 --- --- --- --- NSDHL 50814 broad.mit.edu 37 X 152037406 152037407 + Frame_Shift_Ins INS - - C TCGA-AS-3778-01A-01W-0886-08 TCGA-AS-3778-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92941393-2b36-4cf5-ab01-f1ba3f8f15df 851ae5d5-c3ea-4108-93ea-e383ea566af3 g.chrX:152037406_152037407insC ENST00000370274.3 + 8 1062_1063 c.868_869insC c.(868-870)cccfs p.P290fs NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.P290fs NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 290 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CAATTATGAGGCCCCCAAGTAC 0.559 7 1649 --- --- --- ---