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 HSPA1A 3303 broad.mit.edu 37 6 31783386 31783386 + Translation_Start_Site SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:31783386A>T ENST00000375651.5 + 0 96 HSPA1A_ENST00000458062.2_De_novo_Start_OutOfFrame|HSPA1L_ENST00000417199.3_5'UTR NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 CCGTTGTCCCAAGGCTTCCCA 0.607000 15 9 0 0 1.49906e-05 0 0 SPZ1 84654 broad.mit.edu 37 5 79616044 79616044 + Missense_Mutation SNP T T A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr5:79616044T>A ENST00000296739.4 + 1 255 c.10T>A c.(10-12)Tct>Act p.S4T NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.S4T(1) endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GATGGCCAGCTCTGCTAAGTC 0.468000 135 184 0 0 0.000147903 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 41 0 0 6.4e-05 0 0 CLLU1 574028 broad.mit.edu 37 12 92818809 92818809 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr12:92818809G>A ENST00000378485.1 + 1 1075 c.353G>A c.(352-354)cGc>cAc p.R118H CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA NM_001025233.1 NP_001020404.1 chronic lymphocytic leukemia up-regulated 1 NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAACTGTTGCGCGTGTGTTGG 0.323000 11 15 0 0 3.86212e-05 0 0 PTPDC1 138639 broad.mit.edu 37 9 96850154 96850154 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr9:96850154A>T ENST00000375360.3 + 4 636 c.296A>T c.(295-297)gAg>gTg p.E99V PTPDC1_ENST00000288976.3_Missense_Mutation_p.E151V NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 99 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CCATCCTCTGAGCTCCTGGAG 0.468000 56 81 0 0 0.000147903 0 0 SRF 6722 broad.mit.edu 37 6 43139845 43139845 + Missense_Mutation SNP A A C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:43139845A>C ENST00000265354.4 + 1 809 c.451A>C c.(451-453)Atc>Ctc p.I151L NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 151 MADS-box. angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GATGGAGTTCATCGACAACAA 0.687000 5 37 0 0 1.23904e-05 0 0 ROCK1P1 727758 broad.mit.edu 37 18 116843 116843 + RNA SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr18:116843A>T ENST00000576266.1 + 0 190 TCATTTTAGTAAACTGTTTCA 0.294000 17 7 0 0 7.16444e-05 0 0 SLC5A4 6527 broad.mit.edu 37 22 32635079 32635079 + Splice_Site SNP T T C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr22:32635079T>C ENST00000266086.4 - 6 489 c.e6-2 RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TATGTCTGCCTAAAAAGGGAA 0.463000 19 3 0 0 9.7654e-05 0 0 C10orf71 118461 broad.mit.edu 37 10 50530628 50530628 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr10:50530628G>A ENST00000374144.3 + 3 326 c.38G>A c.(37-39)aGc>aAc p.S13N C10orf71_ENST00000323868.4_Missense_Mutation_p.S13N Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 13 endometrium(1) 1 GACGCGTTCAGCGACTCCTCC 0.542000 7 3 0 0 2.17888e-05 0 0 IGSF10 285313 broad.mit.edu 37 3 151163993 151163993 + Missense_Mutation SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr3:151163993A>G ENST00000282466.3 - 4 3775 c.3776T>C c.(3775-3777)gTg>gCg p.V1259A NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1259 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATTTGCATCACACTTGTTGA 0.438000 4 48 0 0 2.56e-06 0 0 EXD1 161829 broad.mit.edu 37 15 41476512 41476512 + Missense_Mutation SNP G G T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr15:41476512G>T ENST00000314992.5 - 10 1352 c.1162C>A c.(1162-1164)Caa>Aaa p.Q388K EXD1_ENST00000458580.2_Missense_Mutation_p.Q446K NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 388 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TTTGTAGCTTGTTTATTCAAA 0.383000 40 6 4.16155e-14 3.01511e-12 6.26518e-05 1 0 GNAS 2778 broad.mit.edu 37 20 57430051 57430051 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr20:57430051C>T ENST00000306120.3 + 1 1541 c.1541C>T c.(1540-1542)gCg>gTg p.A514V GNAS_ENST00000371099.2_Silent_p.S577S|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371100.4_Silent_p.S577S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.S577S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ATGACTCCAGCGGAGACGAGT 0.672000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 13 37 0 0 0.000151284 0 0 SPAST 6683 broad.mit.edu 37 2 32368403 32368403 + Splice_Site SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:32368403A>G ENST00000315285.3 + 14 1661 c.e14-1 SPAST_ENST00000345662.1_Splice_Site NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AATATTTTTCAGACAAGACTA 0.328000 12 20 0 0 0.00010058 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 6 9 0 0 8.12818e-05 0 0 SSPO 23145 broad.mit.edu 37 7 149519711 149519711 + RNA SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr7:149519711G>A ENST00000378016.2 + 0 13201 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGGCAGGCGCCCCCTGCAC 0.692000 8 4 0 0 2.17888e-05 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067461 103067461 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103067461G>A ENST00000264260.2 + 11 1953 c.1364G>A c.(1363-1365)aGa>aAa p.R455K IL18RAP_ENST00000409369.1_Missense_Mutation_p.R313K NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 455 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.R455K(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TTGCTTGAAAGAGATGTGGCT 0.423000 25 32 0 0 5.49717e-05 0 0 AP3D1 8943 broad.mit.edu 37 19 2109958 2109958 + Splice_Site SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:2109958C>T ENST00000355272.6 - 29 3471 c.e29-1 AP3D1_ENST00000345016.5_Splice_Site|AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000350812.6_Splice_Site NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTCATTCTGCGGTGGAG 0.642000 24 30 0 0 5.49717e-05 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 9 38 0 0 3.86212e-05 0 0 OR11A1 26531 broad.mit.edu 37 6 29394894 29394894 + Silent SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:29394894A>T ENST00000377149.1 - 5 997 c.525T>A c.(523-525)atT>atA p.I175I OR11A1_ENST00000377148.1_Silent_p.I175I|OR11A1_ENST00000377147.2_Silent_p.I175I|OR5V1_ENST00000377154.1_Intron Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AAAACTGGTCAATGTGGTTGG 0.547000 12 16 0 0 0.000151284 0 0 PRSS48 345062 broad.mit.edu 37 4 152204317 152204317 + Missense_Mutation SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr4:152204317A>G ENST00000455694.2 + 4 532 c.530A>G c.(529-531)gAc>gGc p.D177G SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.D34G NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 177 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 CCCATTATTGACCGCCAGGCT 0.463000 95 99 0 0 0.000147903 0 0 AR 367 broad.mit.edu 37 X 66765795 66765795 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:66765795C>T ENST00000374690.3 + 1 1331 c.807C>T c.(805-807)taC>taT p.Y269Y AR_ENST00000396044.3_Silent_p.Y269Y|AR_ENST00000504326.1_Silent_p.Y269Y|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 267 Modulating. P -> S (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Y269Y(1)|p.Y79Y(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ATTGCATGTACGCCCCACTTT 0.597000 Androgen Insensitivity Syndrome 18 33 0 0 9.7654e-05 0 0 DST 667 broad.mit.edu 37 6 56496732 56496732 + Silent SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:56496732G>C ENST00000370754.5 - 28 3812 c.3813C>G c.(3811-3813)ccC>ccG p.P1271P DST_ENST00000421834.2_Silent_p.P1093P|DST_ENST00000361203.3_Silent_p.P1093P|DST_ENST00000244364.6_Silent_p.P767P|DST_ENST00000312431.6_Silent_p.P1093P|DST_ENST00000370769.4_Silent_p.P1093P|DST_ENST00000518935.1_Silent_p.P767P|DST_ENST00000370788.2_Silent_p.P1093P|DST_ENST00000370765.6_Silent_p.P767P|DST_ENST00000446842.2_Silent_p.P767P Q03001 DYST_HUMAN dystonin 1093 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) CTCTTTCCAGGGGAGTTCGAA 0.383000 31 110 0 0 7.24521e-05 0 0 DCC 1630 broad.mit.edu 37 18 50918108 50918108 + Missense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr18:50918108C>A ENST00000442544.2 + 17 3155 c.2539C>A c.(2539-2541)Cca>Aca p.P847T DCC_ENST00000412726.1_Missense_Mutation_p.P675T|DCC_ENST00000581580.1_Missense_Mutation_p.P482T NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 847 Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CATGCTCCCACCAGTAGGTGT 0.522000 22 134 1.55469e-16 1.13864e-14 5.49717e-05 1 0 GPR139 124274 broad.mit.edu 37 16 20043116 20043116 + Missense_Mutation SNP T T A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr16:20043116T>A ENST00000570682.1 - 2 1303 c.1003A>T c.(1003-1005)Atc>Ttc p.I335F NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 335 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGCATCTTGATGCAGTGTGAG 0.443000 84 16 0 0 0.000147903 0 0 NUP62CL 54830 broad.mit.edu 37 X 106397458 106397458 + Silent SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:106397458C>G ENST00000372466.4 - 5 464 c.213G>C c.(211-213)gtG>gtC p.V71V NUP62CL_ENST00000372461.3_Intron NM_017681.2 NP_060151.2 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 71 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 CATATGTCATCACAGGAGTTG 0.388000 19 63 0 0 1.64113e-05 0 0 IL4I1 259307 broad.mit.edu 37 19 50399210 50399210 + Missense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:50399210C>A ENST00000595948.1 - 5 800 c.180G>T c.(178-180)caG>caT p.Q60H IL4I1_ENST00000391826.2_Missense_Mutation_p.Q38H|IL4I1_ENST00000341114.3_Missense_Mutation_p.Q60H NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 38 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) AGTCAGGATCCTGCATGCATT 0.632000 32 39 5.60225e-13 4.01574e-11 3.70037e-05 1 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 4 10 0 0 1.23904e-05 0 0 LONP1 9361 broad.mit.edu 37 19 5714222 5714222 + Missense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:5714222C>A ENST00000360614.3 - 2 647 c.490G>T c.(490-492)Gtc>Ttc p.V164F LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000585374.1_Missense_Mutation_p.V50F|LONP1_ENST00000593119.1_Missense_Mutation_p.V100F|LONP1_ENST00000590729.1_Missense_Mutation_p.V50F NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 164 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAGACGCCGACATAAGGCTGG 0.458000 34 70 4.65686e-17 3.44813e-15 0.000109025 1 0 PSME3 10197 broad.mit.edu 37 17 40986871 40986871 + Missense_Mutation SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr17:40986871A>G ENST00000293362.3 + 4 382 c.221A>G c.(220-222)aAt>aGt p.N74S PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000545225.1_Missense_Mutation_p.N13S|PSME3_ENST00000590720.1_Missense_Mutation_p.N74S|PSME3_ENST00000441946.2_Missense_Mutation_p.N85S NM_005789.3|NM_176863.2 NP_005780.2|NP_789839.1 P61289 PSME3_HUMAN proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 74 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CTTCTCACCAATAGCCATGAT 0.448000 35 53 0 0 4.2857e-05 0 0 FUT9 10690 broad.mit.edu 37 6 96651149 96651149 + Missense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:96651149C>A ENST00000302103.5 + 3 444 c.118C>A c.(118-120)Cca>Aca p.P40T NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 40 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GATCTTCAGTCCAATGGAATC 0.398000 32 10 2.2171e-23 1.67852e-21 3.70037e-05 1 0 RAG1 5896 broad.mit.edu 37 11 36596185 36596185 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr11:36596185C>T ENST00000299440.5 + 2 1443 c.1331C>T c.(1330-1332)gCg>gTg p.A444V NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 444 A -> V (in OS/T(-)B(-)NK(+) SCID; atypical). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.A444V(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GCTCTGAGGGCGAGGAATGAG 0.562000 Familial Hemophagocytic Lymphohistiocytosis 31 10 0 0 4.66903e-05 0 0 HABP4 22927 broad.mit.edu 37 9 99233343 99233343 + Missense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr9:99233343C>A ENST00000375249.4 + 5 869 c.794C>A c.(793-795)tCc>tAc p.S265Y HABP4_ENST00000375251.3_Intron NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 265 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) GTGGAGGAGTCCCAGGGCACC 0.463000 34 54 9.65963e-10 6.85122e-08 8.91981e-05 1 0 KRT35 3886 broad.mit.edu 37 17 39634648 39634648 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr17:39634648C>T ENST00000246639.2 - 5 1006 c.874G>A c.(874-876)Gcc>Acc p.A292T KRT35_ENST00000393989.1_Missense_Mutation_p.A322T Q92764 KRT35_HUMAN keratin 35 322 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) ATCTCCAGGGCGTTGACCGTG 0.602000 19 25 0 0 7.07596e-05 0 0 ZNF592 9640 broad.mit.edu 37 15 85341986 85341986 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr15:85341986C>T ENST00000299927.3 + 5 2926 c.2904C>T c.(2902-2904)gcC>gcT p.A968A ZNF592_ENST00000560079.2_Silent_p.A968A Q92610 ZN592_HUMAN zinc finger protein 592 968 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGCCTGAAGCCCACCGCAGGG 0.667000 8 14 0 0 1.12685e-05 0 0 C12orf50 160419 broad.mit.edu 37 12 88379686 88379686 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr12:88379686G>A ENST00000298699.2 - 11 1247 c.1067C>T c.(1066-1068)aCg>aTg p.T356M C12orf50_ENST00000550553.1_Missense_Mutation_p.T317M NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 356 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGACCCATGCGTGGGCCTGCT 0.478000 65 85 0 0 0.000147903 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36361338 36361338 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr20:36361338C>G ENST00000405275.2 + 3 250 c.7C>G c.(7-9)Cgg>Ggg p.R3G CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R30G Q8WYA6 CTBL1_HUMAN catenin, beta like 1 30 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GAAGATGCGTCGGAAACAAAC 0.478000 12 56 0 0 0.000151284 0 0 DDX53 168400 broad.mit.edu 37 X 23018497 23018497 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:23018497C>G ENST00000327968.5 + 1 411 c.323C>G c.(322-324)gCt>gGt p.A108G RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 108 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 GCCAAAGCGGCTATAGAAACA 0.383000 18 113 0 0 5.01169e-05 0 0 ZNF630 57232 broad.mit.edu 37 X 47919835 47919835 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:47919835A>T ENST00000442455.3 - 4 533 c.190T>A c.(190-192)Tac>Aac p.Y64N ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.Y78N|ZNF630_ENST00000276054.4_5'UTR NM_001190255.1 NP_001177184.1 Q2M218 ZN630_HUMAN zinc finger protein 630 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TTACCTGGGTAGATCCACCTT 0.408000 41 53 0 0 0.000147903 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786315 128786315 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr11:128786315C>G ENST00000529694.1 + 3 1325 c.949C>G c.(949-951)Caa>Gaa p.Q317E KCNJ5_ENST00000533599.1_Missense_Mutation_p.Q317E|KCNJ5_ENST00000338350.4_Missense_Mutation_p.Q317E NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 317 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CATGACCTGCCAAGCCCGGAG 0.502000 31 2 0 0 4.66903e-05 0 0 CBLN2 147381 broad.mit.edu 37 18 70209065 70209065 + Missense_Mutation SNP G G T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr18:70209065G>T ENST00000269503.4 - 3 1104 c.331C>A c.(331-333)Cgc>Agc p.R111S CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R111S|CBLN2_ENST00000583651.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 111 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTCATGGTGCGGTTGCTCATC 0.711000 14 2 1.67942e-08 1.17874e-06 7.07596e-05 1 0 IL18RAP 8807 broad.mit.edu 37 2 103068392 103068392 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068392C>T ENST00000264260.2 + 12 2140 c.1551C>T c.(1549-1551)ttC>ttT p.F517F IL18RAP_ENST00000409369.1_Silent_p.F375F NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 517 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TCTGTTACTTCCAAGAGCCAG 0.413000 31 51 0 0 3.51345e-05 0 0 KCNH8 131096 broad.mit.edu 37 3 19554767 19554767 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr3:19554767A>T ENST00000328405.2 + 13 2651 c.2385A>T c.(2383-2385)aaA>aaT p.K795N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 795 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGAACTTGAAATTGCAACTTT 0.433000 42 55 0 0 7.51294e-05 0 0 IK 3550 broad.mit.edu 37 5 140027504 140027504 + Missense_Mutation SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr5:140027504G>C ENST00000417647.2 + 1 150 c.11G>C c.(10-12)cGa>cCa p.R4P MIR3655_ENST00000581765.1_RNA NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 4 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCGGAGCGAGATAGTAAG 0.512000 10 86 0 0 3.86212e-05 0 0 LUZP2 338645 broad.mit.edu 37 11 25004713 25004713 + Nonsense_Mutation SNP C C A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr11:25004713C>A ENST00000533227.1 + 9 668 c.381C>A c.(379-381)tgC>tgA p.C127* LUZP2_ENST00000336930.6_Nonsense_Mutation_p.C213* NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 213 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGCAGCTCTGCTTGACATCTG 0.413000 45 13 4.37618e-36 3.35076e-34 0.000147903 1 0 NARG2 79664 broad.mit.edu 37 15 60741574 60741574 + Missense_Mutation SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr15:60741574G>C ENST00000261520.4 - 10 1826 c.1592C>G c.(1591-1593)aCt>aGt p.T531S NARG2_ENST00000439632.1_Missense_Mutation_p.T394S NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 531 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TATATCTATAGTCATATCATT 0.333000 36 57 0 0 8.91981e-05 0 0 BRD9 65980 broad.mit.edu 37 5 884140 884140 + Silent SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr5:884140A>G ENST00000323510.4 - 5 590 c.591T>C c.(589-591)agT>agC p.S197S BRD9_ENST00000388890.4_Silent_p.S177S|BRD9_ENST00000467963.1_Silent_p.S293S|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Silent_p.S240S|BRD9_ENST00000435709.2_Silent_p.S177S Q9H8M2 BRD9_HUMAN bromodomain containing 9 293 Bromo. nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CCTCTGCGGTACTGTCCGTCA 0.627000 9 31 0 0 0.000151284 0 0 PCNX 22990 broad.mit.edu 37 14 71568760 71568760 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr14:71568760C>T ENST00000304743.2 + 31 6089 c.5643C>T c.(5641-5643)gcC>gcT p.A1881A PCNX_ENST00000238570.5_Silent_p.A1809A|PCNX_ENST00000439984.3_Silent_p.A1770A|PCNX_ENST00000556272.1_3'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1881 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCTATGAAGCCATAGTATCTC 0.408000 35 51 0 0 2.86225e-05 0 0 MMP17 4326 broad.mit.edu 37 12 132329745 132329745 + Splice_Site SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr12:132329745G>C ENST00000360564.1 + 7 1153 c.1051_splice c.e7+1 p.G351_splice MMP17_ENST00000535291.1_Splice_Site_p.G267_splice|MMP17_ENST00000535182.1_3'UTR NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 351 Hemopexin-like 1. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CTTCTTCAAAGGTACCTCCAG 0.652000 15 20 0 0 7.07596e-05 0 0 DST 667 broad.mit.edu 37 6 56504763 56504763 + Silent SNP T T C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:56504763T>C ENST00000370754.5 - 18 2483 c.2484A>G c.(2482-2484)gaA>gaG p.E828E DST_ENST00000421834.2_Silent_p.E650E|DST_ENST00000361203.3_Silent_p.E650E|DST_ENST00000244364.6_Silent_p.E324E|DST_ENST00000312431.6_Silent_p.E650E|DST_ENST00000370769.4_Silent_p.E650E|DST_ENST00000518935.1_Silent_p.E324E|DST_ENST00000370788.2_Silent_p.E650E|DST_ENST00000370765.6_Silent_p.E324E|DST_ENST00000446842.2_Silent_p.E324E Q03001 DYST_HUMAN dystonin 650 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) TAGATTCAAATTCTTCAATAG 0.328000 37 94 0 0 0.000159656 0 0 CYP4F11 57834 broad.mit.edu 37 19 16045093 16045093 + Silent SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:16045093A>G ENST00000326742.7 - 1 127 c.126T>C c.(124-126)taT>taC p.Y42Y CYP4F11_ENST00000248041.7_Silent_p.Y42Y|CYP4F11_ENST00000402119.3_Silent_p.Y42Y Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 42 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GGCAGTTGTCATAGAAGGTGT 0.642000 14 33 0 0 3.45872e-05 0 0 WFS1 7466 broad.mit.edu 37 4 6296913 6296913 + Silent SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr4:6296913G>A ENST00000226760.1 + 7 1028 c.858G>A c.(856-858)ctG>ctA p.L286L WFS1_ENST00000503569.1_Silent_p.L286L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 286 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CACTGCGTCTGAAGGTGAGTG 0.647000 83 280 0 0 0.000147903 0 0 UMODL1 89766 broad.mit.edu 37 21 43508437 43508437 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr21:43508437G>A ENST00000400427.1 + 5 817 c.421G>A c.(421-423)Gtc>Atc p.V141I UMODL1_ENST00000408989.2_Missense_Mutation_p.V213I|UMODL1_ENST00000408910.2_Missense_Mutation_p.V213I|UMODL1_ENST00000400424.1_Missense_Mutation_p.V141I NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 213 WAP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGCCTCCACCGTCCACCACCT 0.637000 34 33 0 0 0.000132358 0 0 PI4KB 5298 broad.mit.edu 37 1 151282708 151282708 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr1:151282708A>T ENST00000368875.2 - 4 1549 c.969T>A c.(967-969)agT>agA p.S323R PI4KB_ENST00000368872.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.S311R|PI4KB_ENST00000271657.5_Missense_Mutation_p.S323R|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Intron NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 311 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 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) AATTATCAATACTCTCGGTGC 0.587000 7 12 0 0 0.000157383 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 107 0 0 3.86212e-05 0 0 ROCK1P1 727758 broad.mit.edu 37 18 116842 116842 + RNA SNP T T C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr18:116842T>C ENST00000576266.1 + 0 189 TTCATTTTAGTAAACTGTTTC 0.299000 17 7 0 0 7.16444e-05 0 0 STRIP2 57464 broad.mit.edu 37 7 129091519 129091519 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr7:129091519G>A ENST00000249344.2 + 4 380 c.340G>A c.(340-342)Gac>Aac p.D114N STRIP2_ENST00000435494.2_Missense_Mutation_p.D114N NM_020704.2 NP_065755.1 striatin interacting protein 2 GGGACTCTTGGACCGGCTAGA 0.552000 38 26 0 0 6.26518e-05 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746165 77746165 + Missense_Mutation SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:77746165G>C ENST00000409088.3 - 3 1244 c.830C>G c.(829-831)cCc>cGc p.P277R LRRTM4_ENST00000409884.1_Missense_Mutation_p.P277R|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P278R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P278R|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P277R NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 277 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TTGTAAATTGGGGAGGCATTT 0.398000 13 16 0 0 0.00010058 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068368 103068368 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068368C>T ENST00000264260.2 + 12 2116 c.1527C>T c.(1525-1527)ctC>ctT p.L509L IL18RAP_ENST00000409369.1_Silent_p.L367L NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 509 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CACTGAAACTCATTTTAATTA 0.413000 29 44 0 0 8.91981e-05 0 0 TRPC6 7225 broad.mit.edu 37 11 101324406 101324406 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr11:101324406A>T ENST00000344327.3 - 12 3043 c.2619T>A c.(2617-2619)gaT>gaA p.D873E TRPC6_ENST00000532133.1_Missense_Mutation_p.D795E|TRPC6_ENST00000348423.4_Missense_Mutation_p.D757E|TRPC6_ENST00000360497.4_Missense_Mutation_p.D818E NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 873 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CACTCTCCTTATCTATCTGGG 0.448000 19 8 0 0 2.27731e-05 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1979365 1979365 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:1979365C>T ENST00000255641.8 + 8 1311 c.816C>T c.(814-816)cgC>cgT p.R272R NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 272 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACCAAACGCGCCACGCCCA 0.731000 4 5 0 0 8.12818e-05 0 0 CCDC51 79714 broad.mit.edu 37 3 48476289 48476289 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr3:48476289C>T ENST00000395694.2 - 2 335 c.250G>A c.(250-252)Gac>Aac p.D84N CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Missense_Mutation_p.D84N|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 84 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCATATCTGTCCCACCAAGTC 0.637000 13 88 0 0 2.31682e-05 0 0 GABRG1 2565 broad.mit.edu 37 4 46067413 46067413 + Missense_Mutation SNP A A C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr4:46067413A>C ENST00000295452.4 - 4 677 c.510T>G c.(508-510)atT>atG p.I170M NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 170 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CATCATTCCAAATTCGAAGCA 0.323000 58 90 0 0 0.000147903 0 0 SIDT1 54847 broad.mit.edu 37 3 113302286 113302286 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr3:113302286G>A ENST00000264852.4 + 7 1504 c.778G>A c.(778-780)Gtg>Atg p.V260M SIDT1_ENST00000393830.3_Missense_Mutation_p.V260M NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 260 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GCAGTTCTTCGTGGTATTTGT 0.453000 21 7 0 0 7.16444e-05 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068417 103068417 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068417C>T ENST00000264260.2 + 12 2165 c.1576C>T c.(1576-1578)Ctc>Ttc p.L526F IL18RAP_ENST00000409369.1_Missense_Mutation_p.L384F NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 526 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TCTACCTCATCTCGTGAAAAA 0.428000 45 82 0 0 0.000147903 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612392 54612392 + Missense_Mutation SNP G G C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr7:54612392G>C ENST00000302287.3 + 2 563 c.157G>C c.(157-159)Ggc>Cgc p.G53R VSTM2A_ENST00000402026.2_Missense_Mutation_p.G52R|VSTM2A_ENST00000404951.1_Missense_Mutation_p.G53R|VSTM2A_ENST00000407838.3_Missense_Mutation_p.G53R|VSTM2A_ENST00000402613.3_Missense_Mutation_p.G53R Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 53 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CTTCCAGAGCGGCTCCGCCTC 0.647000 5 38 0 0 3.59834e-05 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068354 103068354 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068354C>T ENST00000264260.2 + 12 2102 c.1513C>T c.(1513-1515)Caa>Taa p.Q505* IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.Q363* NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 505 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CTTGGATGATCAAACACTGAA 0.408000 36 44 0 0 4.2857e-05 0 0 ZNF217 7764 broad.mit.edu 37 20 52192352 52192352 + Missense_Mutation SNP A A T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr20:52192352A>T ENST00000371471.2 - 4 3376 c.2951T>A c.(2950-2952)cTg>cAg p.L984Q ZNF217_ENST00000302342.3_Missense_Mutation_p.L984Q O75362 ZN217_HUMAN zinc finger protein 217 984 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CTGAACAGTCAGCACATTTGG 0.552000 60 20 0 0 0.000147903 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068482 103068482 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068482C>T ENST00000264260.2 + 12 2230 c.1641C>T c.(1639-1641)ccC>ccT p.P547P IL18RAP_ENST00000409369.1_Silent_p.P405P NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 547 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CAGTTCCTCCCAATTCTAGGT 0.458000 65 113 0 0 0.000147903 0 0 LOC102546299 102546299 broad.mit.edu 37 5 164028160 164028160 + RNA SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr5:164028160C>T ENST00000486913.3 + 0 338 CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA CCGTTGTAGACGCCCACCCTG 0.592000 5 7 0 0 8.12818e-05 0 0 EXD1 161829 broad.mit.edu 37 15 41476511 41476511 + Missense_Mutation SNP T T A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr15:41476511T>A ENST00000314992.5 - 10 1353 c.1163A>T c.(1162-1164)cAa>cTa p.Q388L EXD1_ENST00000458580.2_Missense_Mutation_p.Q446L NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 388 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 ATTTGTAGCTTGTTTATTCAA 0.383000 40 6 0 0 6.26518e-05 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389081 19389081 + Silent SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:19389081G>A ENST00000338883.4 - 24 3395 c.3396C>T c.(3394-3396)atC>atT p.I1132I MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.I964I|MAP3K15_ENST00000359173.3_Silent_p.I567I NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1132 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCTCACCTGGGATGAGAATGG 0.478000 37 48 0 0 0.000106405 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 48 0 0 1.23904e-05 0 0 CPS1 1373 broad.mit.edu 37 2 211460236 211460236 + Missense_Mutation SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:211460236C>T ENST00000233072.5 + 13 1485 c.1289C>T c.(1288-1290)tCa>tTa p.S430L CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.S436L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 430 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTCTAGGATCAGGAGGTCTG 0.378000 68 114 0 0 0.000147903 0 0 GABRG1 2565 broad.mit.edu 37 4 46067380 46067380 + Splice_Site SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr4:46067380C>T ENST00000295452.4 - 4 710 c.e4+1 NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ACCAATATTACCTTAGAGTAT 0.303000 44 73 0 0 0.000147903 0 0 CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr17:45219355C>G ENST00000066544.3 - 12 1508 c.1415G>C c.(1414-1416)gGt>gCt p.G472A CDC27_ENST00000531206.1_Missense_Mutation_p.G478A|CDC27_ENST00000527547.1_Missense_Mutation_p.G471A|CDC27_ENST00000446365.2_Missense_Mutation_p.G411A NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368000 7 162 0 0 8.12818e-05 0 0 CDH23 64072 broad.mit.edu 37 10 73375261 73375261 + Splice_Site SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr10:73375261G>A ENST00000224721.6 + 9 853 c.847_splice c.e9-1 p.G283_splice CDH23_ENST00000461841.3_Splice_Site_p.G323_splice|CDH23_ENST00000398809.4_Splice_Site_p.G278_splice|CDH23_ENST00000398842.3_Splice_Site_p.G278_splice|CDH23_ENST00000299366.7_Splice_Site_p.G323_splice NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 278 Cadherin 3. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCTCTTGCAGGGAATACCAAC 0.617000 9 1 0 0 3.86212e-05 0 0 RAVER1 125950 broad.mit.edu 37 19 10434111 10434111 + Silent SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:10434111G>A ENST00000293677.6 - 4 1020 c.939C>T c.(937-939)ttC>ttT p.F313F NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 296 Interaction with PTBP1 (By similarity). cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CAGGGGCGCAGAAGGAGACTC 0.716000 9 23 0 0 1.12685e-05 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162379 90162379 + RNA SNP A A G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr16:90162379A>G ENST00000564451.1 + 0 1732 TUBB8P7_ENST00000567960.1_RNA TGGGAATAATACGGCCATCCA 0.522000 4 43 0 0 2.56e-06 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119768707 119768707 + Silent SNP C C G rs139031897 TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr10:119768707C>G ENST00000355624.3 - 5 1780 c.1341G>C c.(1339-1341)ggG>ggC p.G447G RAB11FIP2_ENST00000369199.3_Silent_p.G467G|RAB11FIP2_ENST00000476207.1_5'UTR NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 447 FIP-RBD. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) GACTACGATACCCTGCAGTGG 0.453000 49 14 0 0 0.000147903 0 0 ATG2A 23130 broad.mit.edu 37 11 64669847 64669847 + Missense_Mutation SNP A A C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr11:64669847A>C ENST00000421419.2 - 28 3909 c.3795T>G c.(3793-3795)agT>agG p.S1265R ATG2A_ENST00000377264.3_Missense_Mutation_p.S1263R Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1263 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GAGAGGCAGGACTCTCCGAGA 0.701000 3 4 0 0 2.56e-06 0 0 AGRN 375790 broad.mit.edu 37 1 982226 982226 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr1:982226G>A ENST00000379370.2 + 19 3327 c.3277G>A c.(3277-3279)Gtg>Atg p.V1093M NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1093 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGGCAGCAGCGTGGCCACCCC 0.687000 4 1 0 0 1.23904e-05 0 0 NEURL1 9148 broad.mit.edu 37 10 105331479 105331479 + Silent SNP C C T rs142246980 TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr10:105331479C>T ENST00000369780.4 + 3 958 c.549C>T c.(547-549)aaC>aaT p.N183N NEURL_ENST00000369777.2_Silent_p.N166N|NEURL_ENST00000465048.1_3'UTR NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 183 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) ACCGCATCAACGACTCGGCTG 0.637000 24 5 0 0 2.25844e-05 0 0 PRPH2 5961 broad.mit.edu 37 6 42689566 42689566 + Silent SNP G G A rs143096101 TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:42689566G>A ENST00000230381.5 - 1 746 c.507C>T c.(505-507)aaC>aaT p.N169N NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 169 Missing (in some patients with macular dystrophy). cell adhesion|visual perception integral to membrane p.N169N(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CCCGAAAACCGTTGTTGCCGC 0.512000 64 140 0 0 0.000147903 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 7 0 0 6.4e-05 0 0 GGN 199720 broad.mit.edu 37 19 38877378 38877378 + Missense_Mutation SNP G G A TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr19:38877378G>A ENST00000334928.6 - 3 656 c.524C>T c.(523-525)cCa>cTa p.P175L AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 175 Interaction with GGNBP1 (By similarity).|Pro-rich. PP -> SR (in Ref. 1; AAP31500). cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGTAATGGTGGTGGCGGCTT 0.677000 8 15 0 0 3.86212e-05 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068314 103068314 + Silent SNP C C T TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:103068314C>T ENST00000264260.2 + 12 2062 c.1473C>T c.(1471-1473)atC>atT p.I491I IL18RAP_ENST00000409369.1_Silent_p.I349I NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 491 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.I491I(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GACCCAGTATCTTTGAACTAC 0.383000 47 48 0 0 0.000147903 0 0 CNGA2 1260 broad.mit.edu 37 X 150911807 150911807 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chrX:150911807C>G ENST00000329903.4 + 6 865 c.832C>G c.(832-834)Ctt>Gtt p.L278V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 278 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CATCAGCAACCTTGTCCTCTA 0.512000 19 88 0 0 0.000132079 0 0 FMO1 2326 broad.mit.edu 37 1 171254418 171254418 + Missense_Mutation SNP C C G TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr1:171254418C>G ENST00000354841.4 + 8 1465 c.1334C>G c.(1333-1335)gCa>gGa p.A445G FMO1_ENST00000367750.3_Missense_Mutation_p.A445G|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.A382G Q01740 FMO1_HUMAN flavin containing monooxygenase 1 445 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) TATATCAATGCAAAACCCAAC 0.458000 6 99 0 0 0.000157383 0 0 LY75 4065 broad.mit.edu 37 2 160734989 160734989 + Silent SNP G G A rs34313381 TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:160734989G>A ENST00000263636.4 - 11 1647 c.1620C>T c.(1618-1620)taC>taT p.Y540Y LY75_ENST00000553424.1_Silent_p.Y540Y|LY75-CD302_ENST00000505052.1_Silent_p.Y540Y|LY75-CD302_ENST00000504764.1_Silent_p.Y540Y|LY75_ENST00000554112.1_Silent_p.Y540Y NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AATCATTTAGGTATTCTTGCT 0.353000 25 35 0 0 9.22233e-05 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 10 168 --- --- --- --- HCN1 348980 broad.mit.edu 37 5 45695987 45695995 + In_Frame_Del DEL CCGCCGCCA CCGCCGCCA - rs56064803 byFrequency TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr5:45695987_45695995delCCGCCGCCA ENST00000303230.4 - 1 258_266 c.201_209delTGGCGGCGG c.(199-210)ggc>gg p.GGGG71del NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 71 Gly-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.G72_G74delGGG(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 gccgccgccgccgccgccaccgccgccac 0.770 11 8 --- --- --- --- DEFB113 245927 broad.mit.edu 37 6 49936566 49936566 + Frame_Shift_Del DEL T T - TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr6:49936566delT ENST00000398718.1 - 2 72 c.73delA c.(73-75)cafs p.T25fs NM_001037729.1 NP_001032818.1 Q30KQ7 DB113_HUMAN defensin, beta 113 25 defense response to bacterium extracellular region breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Lung NSC(77;0.042) ACTTCTCTTGTTTTTTTCTGT 0.353 21 47 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679315 6679316 + RNA DEL CC CC - rs58387909 by1000genomes TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr8:6679315_6679316delCC ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) cacacacacaccccccacacac 0.406 4 5 --- --- --- --- BTAF1 9044 broad.mit.edu 37 10 93719631 93719633 + In_Frame_Del DEL TGA TGA - TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr10:93719631_93719633delTGA ENST00000265990.6 + 10 1388_1390 c.1080_1082delTGA c.(1078-1083)tct>tc p.SD360del BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 360 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ACTTTGTTTCTGATGAAGTAAGT 0.335 27 10 --- --- --- --- FAM179B 23116 broad.mit.edu 37 14 45478274 45478274 + Frame_Shift_Del DEL C C - TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr14:45478274delC ENST00000361462.2 + 6 3246 c.3063delC c.(3061-3063)tafs p.Y1021fs FAM179B_ENST00000382233.2_Intron|FAM179B_ENST00000361577.3_Frame_Shift_Del_p.Y1021fs|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1021 Ser-rich. binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TCAATTCTTACAGTGAAAGTG 0.418 27 39 --- --- --- --- BLM 641 broad.mit.edu 37 15 91304286 91304288 + In_Frame_Del DEL TGA TGA - TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr15:91304286_91304288delTGA ENST00000355112.3 + 7 1801_1803 c.1683_1685delTGA c.(1681-1686)ttt>tt p.FD561del BLM_ENST00000560509.1_In_Frame_Del_p.FD561del NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 561 Poly-Asp. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAGATGACTTTGATGATGATGAT 0.374 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 8 1086 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-FS-A1ZJ-06A-12D-A197-08 TCGA-FS-A1ZJ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx adc4bda9-4163-4f2e-8f17-a00b1f0a28d6 5c310b50-8cea-4b46-a88c-ca87f1daca30 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 6 6 --- --- --- ---