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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high FAM13C 220965 broad.mit.edu 37 10 61028449 61028449 + Missense_Mutation SNP G G A rs138913406 byFrequency TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr10:61028449G>A ENST00000373868.2 - 8 893 c.806C>T c.(805-807)cCg>cTg p.P269L FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L NM_198215.3 NP_937858.2 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 45 AGAACTCCGCGGCCTGCAGTG 0.493000 0 SO:0001583 missense ENST00000373868.2 1 1 hg19 CCDS7255.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 14.53 2.563159 0.45694 0.001589 0.0 ENSG00000148541 ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696 T;T;T;T;T;T;T;T;T 0.75704 -0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96 6.04 6.04 0.98038 . 0.142017 0.49916 N 0.000133 T 0.77618 0.4157 L 0.39147 1.195 0.80722 D 1 P;B;B;D;B 0.67145 0.487;0.018;0.296;0.996;0.347 B;B;B;P;B 0.53861 0.13;0.018;0.087;0.736;0.083 T 0.72347 -0.4321 10 0.27082 T 0.32 -3.6719 20.5891 0.99427 0.0:0.0:1.0:0.0 . 269;186;269;269;269 B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31 .;.;.;.;FA13C_HUMAN L 186;269;290;290;269;186;269;269;47 ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L ENSP00000277705:P290L P - 2 0 FAM13C 60698455 1.000000 0.71417 1.000000 0.80357 0.406000 0.30931 3.913000 0.56394 2.876000 0.98609 0.650000 0.86243 CCG TCGA-Q3-AA2A-01A-11D-A377-08 FAM13C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048162.2 1 0 1 50 181 0 55 0 1.239826e-01 0 3 0 55 2 0 0 0 0 0 2 1 1.000000 48 180 0 55 2 0 0 0 0 55 2 -3.442381 1 1 121398 43 45 1 1 2 3 2.055323 0 0.540000 1.930000 0.541239 0.800000 6.100000e-01 1.000000 0.800000 0.808416 0.800000 0 7.000000e-01 0.910000 PPP1R3C 5507 broad.mit.edu 37 10 93389892 93389892 + Missense_Mutation SNP T T C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr10:93389892T>C ENST00000238994.5 - 2 830 c.746A>G c.(745-747)aAt>aGt p.N249S NM_005398.5 NP_005389.1 protein phosphatase 1, regulatory subunit 3C 12 Colorectal(252;0.235) CTGACCATCATTGTTGTCCCA 0.453000 0 SO:0001583 missense ENST00000238994.5 1 1 hg19 CCDS7416.1 . . . . . . . . . . T 16.97 3.270056 0.59540 . . ENSG00000119938 ENST00000238994;ENST00000438999;ENST00000500094 T 0.76316 -1.01 5.73 3.31 0.37934 Putative phosphatase regulatory subunit (2); 0.049016 0.85682 D 0.000000 D 0.90689 0.7079 H 0.97491 4.015 0.58432 D 0.999997 D 0.89917 1.0 D 0.85130 0.997 D 0.90361 0.4373 10 0.87932 D 0 -21.2088 8.006 0.30325 0.121:0.0672:0.0:0.8117 . 249 Q9UQK1 PPR3C_HUMAN S 249;229;131 ENSP00000238994:N249S ENSP00000238994:N249S N - 2 0 PPP1R3C 93379872 1.000000 0.71417 0.882000 0.34594 0.884000 0.51177 6.240000 0.72363 0.954000 0.37851 0.533000 0.62120 AAT TCGA-Q3-AA2A-01A-11D-A377-08 PPP1R3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049372.1 1 0 1 119 322 0 83 0 1.802628e-01 0 3 0 83 2 0 0 0 0 0 2 1 1.000000 119 320 0 83 2 0 0 0 0 83 2 -20.000000 1 1 121412 2 39 1 1 2 3 2.055323 0 0.540000 1.930000 0.541239 0.990000 8.400000e-01 1.000000 1.000000 0.970667 0.990000 1 9.200000e-01 1.000000 OR8I2 120586 broad.mit.edu 37 11 55861306 55861306 + Missense_Mutation SNP C C A rs148514357 by1000genomes TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr11:55861306C>A ENST00000302124.2 + 1 554 c.523C>A c.(523-525)Cat>Aat p.H175N NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 53 Esophageal squamous(21;0.00693) CAGCATCAATCATTTTTTTTG 0.443000 0 SO:0001583 missense ENST00000302124.2 1 0 hg19 CCDS31517.1 . . . . . . . . . . C 15.39 2.820045 0.50633 . . ENSG00000172154 ENST00000302124 T 0.00164 8.64 4.33 4.33 0.51752 GPCR, rhodopsin-like superfamily (1); 0.000000 0.41605 U 0.000848 T 0.00300 0.0009 M 0.84156 2.68 0.34928 D 0.74909 B 0.30634 0.288 B 0.35688 0.208 T 0.60831 -0.7185 10 0.72032 D 0.01 -15.4428 16.2092 0.82147 0.0:1.0:0.0:0.0 . 175 Q8N0Y5 OR8I2_HUMAN N 175 ENSP00000303864:H175N ENSP00000303864:H175N H + 1 0 OR8I2 55617882 0.998000 0.40836 0.998000 0.56505 0.285000 0.27093 2.855000 0.48333 2.115000 0.64714 0.440000 0.28878 CAT TCGA-Q3-AA2A-01A-11D-A377-08 OR8I2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 0 28 523 0 121 0 0 0 0 121 2 0 0 0 0 0 2 1 1.000000 27 514 0 120 2 0 0 0 0 121 2 -2.804279 1 1 0 0 1 0 0 0 2.043111 0 0.540000 1.930000 0.540000 0.180000 1.200000e-01 0.260000 0.190000 0.193911 0.180000 0 1.500000e-01 0.230000 HRASLS5 117245 broad.mit.edu 37 11 63257751 63257751 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr11:63257751G>A ENST00000301790.4 - 2 392 c.233C>T c.(232-234)cCg>cTg p.P78L HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 14 TAATGTGCCCGGCGGAGGCTG 0.493000 0 SO:0001583 missense ENST00000301790.4 1 1 hg19 CCDS8044.1 . . . . . . . . . . G 9.547 1.114974 0.20795 . . ENSG00000168004 ENST00000540857;ENST00000539221;ENST00000301790 T;T;T 0.26373 1.74;2.24;1.75 3.67 -1.79 0.07932 . 2.087150 0.02276 N 0.068944 T 0.13884 0.0336 N 0.14661 0.345 0.09310 N 1 B;P;B 0.41673 0.041;0.759;0.056 B;B;B 0.28305 0.016;0.088;0.019 T 0.38067 -0.9678 10 0.51188 T 0.08 -2.3493 10.9222 0.47171 0.0:0.0:0.5125:0.4875 . 78;68;78 F5GZ87;F5H4Y9;Q96KN8 .;.;HRSL5_HUMAN L 68;78;78 ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L ENSP00000301790:P78L P - 2 0 HRASLS5 63014327 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.368000 0.07543 -0.331000 0.08501 -1.142000 0.01873 CCG TCGA-Q3-AA2A-01A-11D-A377-08 HRASLS5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396375.1 1 0 1 428 1039 0 287 0 0 0 0 287 2 0 0 0 0 0 2 1 1.000000 426 1026 0 286 2 0 0 0 0 287 2 -20.000000 1 1 0 0 1 0 0 0 2.043111 0 0.540000 1.930000 0.540000 0.990000 9.800000e-01 1.000000 1.000000 0.999439 0.990000 1 9.900000e-01 1.000000 BTBD11 121551 broad.mit.edu 37 12 107937864 107937864 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr12:107937864G>A ENST00000280758.5 + 3 1966 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 53 CCCACAAATGGAATGGGAAAA 0.582000 0 SO:0001583 missense ENST00000280758.5 1 1 hg19 CCDS31893.1 . . . . . . . . . . G 34 5.356457 0.95854 . . ENSG00000151136 ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943 T;T;T;T;T 0.48522 0.81;0.81;0.81;0.81;0.81 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 T 0.71863 0.3390 M 0.77486 2.375 0.80722 D 1 D;D;D 0.89917 0.998;0.997;1.0 D;D;D 0.91635 0.991;0.98;0.999 T 0.74150 -0.3758 10 0.72032 D 0.01 . 19.76 0.96311 0.0:0.0:1.0:0.0 . 480;480;480 A6QL63-2;A6QL63;A6QL63-3 .;BTBDB_HUMAN;. K 480;480;480;111;114 ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K ENSP00000280758:E480K E + 1 0 BTBD11 106461994 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.852000 0.99516 2.666000 0.90696 0.655000 0.94253 GAA TCGA-Q3-AA2A-01A-11D-A377-08 BTBD11-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318003.1 1 0 1 40 194 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 1.000000 39 191 0 53 2 0 0 0 0 53 2 -20.000000 1 1 0 0 1 0 2 2 2.089950 1 0.540000 1.930000 0.540000 0.660000 4.700000e-01 1.000000 0.630000 0.715043 0.660000 0 5.500000e-01 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-Q3-AA2A-01A-11D-A377-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 109 241 0 55 0 0 1 0 0 55 2 1 1 168 376 0 386 2 1 1.000000 108 237 0 55 2 1 1 3289 4738 0 55 2 -20.000000 1 1 0 0 1 0 2 2 2.089950 1 0.540000 1.930000 0.540000 0.990000 9.800000e-01 1.000000 1.000000 0.998816 0.990000 1 9.900000e-01 1.000000 ITFG2 55846 broad.mit.edu 37 12 2929350 2929350 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr12:2929350G>A ENST00000228799.2 + 5 644 c.505G>A c.(505-507)Ggg>Agg p.G169R ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) ACATCTGACAGGGCAGCTGGT 0.597000 0 SO:0001583 missense ENST00000228799.2 0 1 hg19 CCDS8513.1 . . . . . . . . . . G 28.4 4.914335 0.92178 . . ENSG00000111203 ENST00000228799;ENST00000542548 T;T 0.73152 -0.72;1.97 4.58 4.58 0.56647 . 0.000000 0.85682 D 0.000000 D 0.84566 0.5500 M 0.80616 2.505 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.87007 0.2120 10 0.72032 D 0.01 -0.3388 16.5494 0.84464 0.0:0.0:1.0:0.0 . 169 Q969R8 ITFG2_HUMAN R 169;57 ENSP00000228799:G169R;ENSP00000437870:G57R ENSP00000228799:G169R G + 1 0 ITFG2 2799611 1.000000 0.71417 0.982000 0.44146 0.944000 0.59088 9.238000 0.95380 2.384000 0.81235 0.561000 0.74099 GGG TCGA-Q3-AA2A-01A-11D-A377-08 ITFG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253091.1 1 0 0 5 110 0 22 1 4.095629e-01 2 26 0 22 2 0 0 0 0 0 2 1 0.938952 5 110 0 22 2 0 0 0 0 22 2 -8.212047 1 1 0 0 1 0 3 3 2.104904 1 0.540000 1.930000 0.561320 0.190000 7.000000e-02 1.000000 0.170000 0.309385 0.190000 0 1.200000e-01 0.380000 TFDP1 7027 broad.mit.edu 37 13 114265370 114265370 + Silent SNP C C T rs144432965 byFrequency TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr13:114265370C>T ENST00000375370.5 + 3 284 c.72C>T c.(70-72)ccC>ccT p.P24P TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_5'UTR NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) ACCTTAGTCCCGGGAAAGGTA 0.443000 TSP Lung(29;0.18) 0 SO:0001819 synonymous_variant ENST00000375370.5 1 1 hg19 CCDS9538.1 TCGA-Q3-AA2A-01A-11D-A377-08 TFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045918.3 1 0 1 110 358 0 104 1 9.768027e-01 8 14 0 104 2 0 0 0 0 0 2 1 1.000000 110 357 0 104 2 0 0 0 0 104 2 -3.930518 1 1 121412 5 41 1 0 0 0 2.004205 0 0.540000 1.930000 0.534978 0.850000 7.200000e-01 1.000000 0.860000 0.862681 0.850000 1 7.800000e-01 0.930000 MTUS2 23281 broad.mit.edu 37 13 29600312 29600312 + Missense_Mutation SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr13:29600312C>T ENST00000431530.3 + 1 1565 c.1507C>T c.(1507-1509)Cgc>Tgc p.R503C NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 20 TCAAAGTGGCCGCTCAGAAGC 0.502000 0 SO:0001583 missense ENST00000431530.3 1 1 hg19 CCDS45022.1 . . . . . . . . . . c 13.08 2.130528 0.37630 . . ENSG00000132938 ENST00000431530 T 0.12039 2.72 5.92 -8.99 0.00751 . 1.333950 0.04700 N 0.415575 T 0.04907 0.0132 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.38693 -0.9649 9 . . . . 5.915 0.19050 0.1411:0.5246:0.2381:0.0962 . 493 Q5JR59 MTUS2_HUMAN C 503 ENSP00000392057:R503C . R + 1 0 MTUS2 28498312 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.104000 0.10923 -0.703000 0.05049 -1.283000 0.01379 CGC TCGA-Q3-AA2A-01A-11D-A377-08 MTUS2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000044336.3 1 0 1 40 154 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 1.000000 40 150 0 36 2 0 0 0 0 36 2 -20.000000 1 1 120900 2 36 1 0 0 0 2.004205 0 0.540000 1.930000 0.534978 0.750000 5.600000e-01 0.960000 0.750000 0.762238 0.750000 0 6.500000e-01 0.860000 MAB21L1 4081 broad.mit.edu 37 13 36049899 36049899 + Missense_Mutation SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr13:36049899C>T ENST00000379919.4 - 1 933 c.377G>A c.(376-378)cGc>cAc p.R126H NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) CCGGATTTTGCGCGCCGAGAG 0.587000 0 SO:0001583 missense ENST00000379919.4 0 1 hg19 CCDS9353.1 . . . . . . . . . . C 24.5 4.533938 0.85812 . . ENSG00000180660 ENST00000379919 T 0.08634 3.07 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 T 0.35799 0.0944 M 0.84433 2.695 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.06679 -1.0813 10 0.46703 T 0.11 -0.3257 19.7375 0.96212 0.0:1.0:0.0:0.0 . 126 Q13394 MB211_HUMAN H 126 ENSP00000369251:R126H ENSP00000369251:R126H R - 2 0 MAB21L1 34947899 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.818000 0.86416 2.680000 0.91292 0.655000 0.94253 CGC TCGA-Q3-AA2A-01A-11D-A377-08 MAB21L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044459.3 0 0 0 4 167 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.887125 4 164 0 33 2 0 0 0 0 35 2 -3.082443 1 1 0 0 1 0 0 0 2.004205 0 0.540000 1.930000 0.534978 0.090000 2.000000e-02 0.200000 0.080000 0.105343 0.090000 0 5.000000e-02 0.150000 RNASE7 84659 broad.mit.edu 37 14 21511178 21511178 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr14:21511178C>T ENST00000298690.4 + 2 284 c.27C>T c.(25-27)tgC>tgT p.C9C NDRG2_ENST00000403829.3_Intron NM_032572.3 NP_115961 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 6 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) CAGGATTCTGCCCCCTTCTGC 0.572000 0 SO:0001819 synonymous_variant ENST00000298690.4 0 1 hg19 CCDS41914.1 TCGA-Q3-AA2A-01A-11D-A377-08 RNASE7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313936.1 0 0 0 4 133 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 0.889776 4 132 0 29 2 0 0 0 0 29 2 -3.442379 1 1 121404 1 31 1 0 1 1 2.032509 0 0.540000 1.930000 0.538755 0.110000 3.000000e-02 0.250000 0.100000 0.132039 0.110000 0 7.000000e-02 0.190000 C15orf59 388135 broad.mit.edu 37 15 74032307 74032307 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr15:74032307G>A ENST00000569673.1 - 3 2037 c.833C>T c.(832-834)aCg>aTg p.T278M C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 15 GGGCAGAACCGTCTGCGTGCT 0.592000 0 SO:0001583 missense ENST00000569673.1 0 1 hg19 CCDS32289.1 . . . . . . . . . . G 22.8 4.338827 0.81911 . . ENSG00000205363 ENST00000379822 T 0.68903 -0.36 5.1 5.1 0.69264 . 0.000000 0.85682 D 0.000000 T 0.79446 0.4447 L 0.55481 1.735 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.81595 -0.0861 10 0.87932 D 0 . 18.093 0.89480 0.0:0.0:1.0:0.0 . 278 Q2T9L4 CO059_HUMAN M 278 ENSP00000369150:T278M ENSP00000369150:T278M T - 2 0 C15orf59 71819360 1.000000 0.71417 1.000000 0.80357 0.900000 0.52787 9.060000 0.93907 2.354000 0.79902 0.561000 0.74099 ACG TCGA-Q3-AA2A-01A-11D-A377-08 C15orf59-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419077.2 0 0 0 7 881 0 211 0 9.059202e-05 0 2 0 211 2 0 0 0 0 0 2 1 0.978896 7 860 0 202 2 0 0 0 0 211 2 -2.538441 1 1 121410 2 31 1 0 0 0 2.039928 0 0.540000 1.930000 0.540000 0.020000 0 0.060000 0.030000 0.032379 0.020000 0 1.000000e-02 0.050000 USP7 7874 broad.mit.edu 37 16 8988948 8988948 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr16:8988948C>T ENST00000344836.4 - 28 3177 c.2979G>A c.(2977-2979)gcG>gcA p.A993A USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) p.A993A(1) 48 TGTGGAAATGCGCCACTGTGA 0.502000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000344836.4 0 1 hg19 CCDS32385.1 TCGA-Q3-AA2A-01A-11D-A377-08 USP7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434268.2 0 0 0 7 1251 0 290 0 1.738788e-01 0 117 0 290 2 0 0 0 0 0 2 1 0.979785 7 1237 0 289 2 0 0 0 0 290 2 -1.985829 0 1 121412 7 45 1 1 2 3 2.062951 0 0.540000 1.930000 0.542471 0.010000 0 0.050000 0.020000 0.032276 0.010000 0 0 0.030000 DNAH2 146754 broad.mit.edu 37 17 7708357 7708357 + Missense_Mutation SNP G G C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr17:7708357G>C ENST00000572933.1 + 60 10725 c.9265G>C c.(9265-9267)Gaa>Caa p.E3089Q DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAAAGATCTAGAAGAGGCACT 0.582000 0 SO:0001583 missense ENST00000572933.1 1 1 hg19 CCDS32551.1 . . . . . . . . . . G 19.20 3.782129 0.70222 . . ENSG00000183914 ENST00000389173 T 0.74209 -0.82 4.88 4.88 0.63580 Dynein heavy chain, coiled coil stalk (1); 0.057608 0.64402 D 0.000002 T 0.71117 0.3302 L 0.37800 1.135 0.80722 D 1 B 0.28258 0.205 B 0.39152 0.292 T 0.66221 -0.5978 10 0.24483 T 0.36 . 16.9512 0.86246 0.0:0.0:1.0:0.0 . 3089 Q9P225 DYH2_HUMAN Q 3089 ENSP00000373825:E3089Q ENSP00000373825:E3089Q E + 1 0 DNAH2 7649082 1.000000 0.71417 0.998000 0.56505 0.933000 0.57130 6.930000 0.75858 2.541000 0.85698 0.591000 0.81541 GAA TCGA-Q3-AA2A-01A-11D-A377-08 DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 1 0 1 94 288 0 83 0 6.168831e-02 0 2 0 83 2 0 0 0 0 0 2 1 1.000000 94 286 0 82 2 0 0 0 0 83 2 -20.000000 1 1 0 0 1 1 2 3 2.065784 0 0.540000 1.930000 0.542471 0.910000 7.500000e-01 1.000000 1.000000 0.912645 0.910000 1 8.300000e-01 1.000000 DNAH2 146754 broad.mit.edu 37 17 7708641 7708641 + Missense_Mutation SNP G G C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr17:7708641G>C ENST00000572933.1 + 61 10832 c.9372G>C c.(9370-9372)gaG>gaC p.E3124D DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCAAGTGGAGATAGTGATGC 0.507000 0 SO:0001583 missense ENST00000572933.1 1 1 hg19 CCDS32551.1 . . . . . . . . . . G 19.93 3.918069 0.73098 . . ENSG00000183914 ENST00000360606;ENST00000389173 T 0.57907 0.37 5.62 2.09 0.27110 Dynein heavy chain, coiled coil stalk (1); 0.000000 0.85682 D 0.000000 T 0.52613 0.1745 L 0.43757 1.38 0.80722 D 1 P;P 0.40660 0.48;0.726 B;P 0.51297 0.413;0.665 T 0.42155 -0.9468 10 0.25751 T 0.34 . 10.78 0.46371 0.2594:0.0:0.7406:0.0 . 3085;3124 Q9P225-2;Q9P225 .;DYH2_HUMAN D 3085;3124 ENSP00000373825:E3124D ENSP00000353818:E3085D E + 3 2 DNAH2 7649366 1.000000 0.71417 0.996000 0.52242 0.993000 0.82548 1.613000 0.36900 0.724000 0.32296 0.655000 0.94253 GAG TCGA-Q3-AA2A-01A-11D-A377-08 DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 1 0 1 81 252 0 70 0 4.528335e-01 0 6 0 70 2 0 0 0 0 0 2 1 1.000000 81 249 0 70 2 0 0 0 0 70 2 -20.000000 1 0 121412 1 35 1 1 2 3 2.065784 0 0.540000 1.930000 0.542471 0.900000 7.300000e-01 1.000000 1.000000 0.902929 0.900000 1 8.100000e-01 1.000000 DNAH2 146754 broad.mit.edu 37 17 7708672 7708672 + Missense_Mutation SNP G G C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr17:7708672G>C ENST00000572933.1 + 61 10863 c.9403G>C c.(9403-9405)Ggc>Cgc p.G3135R DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GATTCTTCGAGGCAACGAGCC 0.502000 0 SO:0001583 missense ENST00000572933.1 1 1 hg19 CCDS32551.1 . . . . . . . . . . G 20.6 4.014629 0.75161 . . ENSG00000183914 ENST00000360606;ENST00000389173 D 0.83163 -1.69 5.62 5.62 0.85841 Dynein heavy chain, coiled coil stalk (1); 0.056220 0.64402 D 0.000001 D 0.86104 0.5853 M 0.83774 2.66 0.80722 D 1 B;B 0.32324 0.314;0.364 B;B 0.35240 0.198;0.188 D 0.85682 0.1301 10 0.51188 T 0.08 . 18.4187 0.90579 0.0:0.0:1.0:0.0 . 3096;3135 Q9P225-2;Q9P225 .;DYH2_HUMAN R 3096;3135 ENSP00000373825:G3135R ENSP00000353818:G3096R G + 1 0 DNAH2 7649397 1.000000 0.71417 0.999000 0.59377 0.991000 0.79684 6.688000 0.74557 2.652000 0.90054 0.655000 0.94253 GGC TCGA-Q3-AA2A-01A-11D-A377-08 DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 1 0 1 62 230 0 70 0 3.794125e-01 0 5 0 70 2 0 0 0 0 0 2 1 1.000000 62 228 0 69 2 0 0 0 0 70 2 -20.000000 1 0 0 0 1 1 2 3 2.065784 0 0.540000 1.930000 0.542471 0.780000 6.200000e-01 1.000000 0.790000 0.797155 0.780000 0 7.000000e-01 0.890000 SLC14A2 8170 broad.mit.edu 37 18 43246996 43246996 + Missense_Mutation SNP A A G TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr18:43246996A>G ENST00000255226.6 + 13 2470 c.1654A>G c.(1654-1656)Agg>Ggg p.R552G SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G|SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|RP11-116O18.3_ENST00000589510.1_RNA NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 63 CAGTGGGAAAAGGGTCAGCAA 0.478000 0 SO:0001583 missense ENST00000255226.6 0 1 hg19 CCDS11924.1 . . . . . . . . . . A 6.688 0.495556 0.12762 . . ENSG00000132874 ENST00000255226 T 0.36699 1.24 4.37 4.37 0.52481 . 0.340286 0.24960 N 0.034236 T 0.31544 0.0800 L 0.50333 1.59 0.32344 N 0.559296 B 0.12630 0.006 B 0.20955 0.032 T 0.34950 -0.9808 10 0.38643 T 0.18 -7.2644 9.2009 0.37258 0.8181:0.1819:0.0:0.0 . 552 Q15849 UT2_HUMAN G 552 ENSP00000255226:R552G ENSP00000255226:R552G R + 1 2 SLC14A2 41500994 0.038000 0.19896 0.307000 0.25127 0.095000 0.18619 0.812000 0.27211 1.827000 0.53221 0.533000 0.62120 AGG TCGA-Q3-AA2A-01A-11D-A377-08 SLC14A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255858.1 0 0 0 4 133 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 0.886233 4 130 0 43 2 0 0 0 0 43 2 -3.620490 1 1 0 0 1 0 1 1 1.515976 1 0.540000 1.930000 0.369863 0.080000 2.000000e-02 0.180000 0.080000 0.096046 0.080000 0 4.000000e-02 0.140000 CELF5 60680 broad.mit.edu 37 19 3290280 3290280 + Missense_Mutation SNP A A G TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr19:3290280A>G ENST00000292672.2 + 11 1275 c.1238A>G c.(1237-1239)gAc>gGc p.D413G CELF5_ENST00000541430.2_Silent_p.R374R NM_021938.3 NP_068757.2 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 13 GAGTTTGGAGACACGGAGCTG 0.542000 0 SO:0001583 missense ENST00000292672.2 0 1 hg19 CCDS12106.1 . . . . . . . . . . A 22.9 4.355769 0.82243 . . ENSG00000161082 ENST00000292672 T 0.17370 2.28 4.32 4.32 0.51571 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.000000 0.85682 D 0.000000 T 0.44993 0.1320 M 0.86178 2.8 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.52419 -0.8578 10 0.87932 D 0 -20.3383 12.6476 0.56744 1.0:0.0:0.0:0.0 . 413 Q8N6W0 CELF5_HUMAN G 413 ENSP00000292672:D413G ENSP00000292672:D413G D + 2 0 CELF5 3241280 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.258000 0.95555 1.731000 0.51592 0.443000 0.29094 GAC TCGA-Q3-AA2A-01A-11D-A377-08 CELF5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452574.1 0 0 0 4 297 0 59 0 0 0 0 59 2 0 0 0 0 0 2 1 0.887854 4 293 0 59 2 0 0 0 0 59 2 -2.796573 1 1 0 0 1 1 2 3 2.071170 0 0.540000 1.930000 0.542471 0.050000 0 0.140000 0.050000 0.070352 0.050000 0 2.000000e-02 0.090000 KPTN 11133 broad.mit.edu 37 19 47986554 47986554 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr19:47986554G>A ENST00000338134.3 - 3 499 c.392C>T c.(391-393)gCc>gTc p.A131V NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) TCACTCACGGGCAATAGAGTC 0.617000 OREG0025593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000338134.3 0 1 hg19 CCDS42583.1 . . . . . . . . . . G 35 5.458714 0.96240 . . ENSG00000118162 ENST00000338134 . . . 4.51 4.51 0.55191 . 0.000000 0.85682 D 0.000000 T 0.80618 0.4657 M 0.83012 2.62 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.84270 0.0488 9 0.72032 D 0.01 -25.3185 16.3782 0.83418 0.0:0.0:1.0:0.0 . 131 Q9Y664 KPTN_HUMAN V 131 . ENSP00000337850:A131V A - 2 0 KPTN 52678366 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 8.893000 0.92498 2.214000 0.71695 0.491000 0.48974 GCC TCGA-Q3-AA2A-01A-11D-A377-08 KPTN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466672.2 0 0 0 5 485 0 130 0 7.122411e-03 0 10 0 130 2 0 0 0 0 0 2 1 0.934753 5 476 0 130 2 0 0 0 0 130 2 -2.023109 0 1 0 0 1 1 2 3 2.067468 0 0.540000 1.930000 0.542471 0.030000 0 0.100000 0.040000 0.054419 0.030000 0 2.000000e-02 0.070000 TSKS 60385 broad.mit.edu 37 19 50243356 50243356 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr19:50243356G>A ENST00000246801.3 - 10 1664 c.1582C>T c.(1582-1584)Cgg>Tgg p.R528W TSKS_ENST00000358830.3_Missense_Mutation_p.R328W NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) TTCTTGGCCCGCAGGGCCTCG 0.627000 0 SO:0001583 missense ENST00000246801.3 0 1 hg19 CCDS12780.1 . . . . . . . . . . G 17.70 3.454044 0.63290 . . ENSG00000126467 ENST00000246801;ENST00000358830 T;T 0.49432 0.78;0.78 4.81 3.72 0.42706 . 0.287773 0.24566 N 0.037427 T 0.50309 0.1608 N 0.24115 0.695 0.32826 D 0.50336 D 0.89917 1.0 D 0.72338 0.977 T 0.59663 -0.7412 10 0.87932 D 0 -27.3869 9.3425 0.38089 0.0:0.0:0.7707:0.2293 . 528 Q9UJT2 TSKS_HUMAN W 528;328 ENSP00000246801:R528W;ENSP00000351691:R328W ENSP00000246801:R528W R - 1 2 TSKS 54935168 0.523000 0.26274 0.989000 0.46669 0.875000 0.50365 2.024000 0.41049 2.490000 0.84030 0.609000 0.83330 CGG TCGA-Q3-AA2A-01A-11D-A377-08 TSKS-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465795.1 0 0 0 5 408 1 120 0 0 0 1 120 2 0 0 0 0 0 2 0 0.036004 5 388 1 120 13 0 0 0 1 120 2 -1.872329 0 1 121390 4 44 1 1 2 3 2.067468 0 0.540000 1.930000 0.542471 0.040000 0 0.110000 0.040000 0.062896 0.040000 0 2.000000e-02 0.080000 BCL9 607 broad.mit.edu 37 1 147084715 147084715 + Silent SNP T T C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr1:147084715T>C ENST00000234739.3 + 5 827 c.87T>C c.(85-87)cgT>cgC p.R29R BCL9_ENST00000473292.1_3'UTR NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 7 all_hematologic(923;0.115) TGATGGTCCGTCCCCCTACAG 0.502000 T IGH@, IGL@ B-ALL Dom yes 1 1q21 607 B-cell CLL/lymphoma 9 L 0 SO:0001819 synonymous_variant ENST00000234739.3 0 1 hg19 CCDS30833.1 TCGA-Q3-AA2A-01A-11D-A377-08 BCL9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039468.1 0 0 0 5 347 0 66 0 3.194699e-03 0 5 0 66 2 0 0 0 0 0 2 1 0.934126 5 339 0 65 2 0 0 0 0 66 2 -2.389524 0 1 0 0 1 0 0 0 2.040689 0 0.540000 1.930000 0.540000 0.050000 1.000000e-02 0.120000 0.060000 0.062573 0.050000 0 3.000000e-02 0.090000 PTPRF 5792 broad.mit.edu 37 1 44064491 44064491 + Silent SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr1:44064491G>A ENST00000359947.4 + 13 2560 c.2220G>A c.(2218-2220)caG>caA p.Q740Q PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGCATGGCCAGATCCGCGGCT 0.647000 0 SO:0001819 synonymous_variant ENST00000359947.4 1 1 hg19 CCDS489.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 8.913|8.913 0.959151|0.959151 0.18507|0.18507 .|. .|. ENSG00000142949|ENSG00000142949 ENST00000412568;ENST00000414879|ENST00000429895 .|. .|. .|. 4.35|4.35 4.35|4.35 0.52113|0.52113 .|. .|. .|. .|. .|. T|T 0.58308|0.58308 0.2113|0.2113 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.56062|0.56062 -0.8041|-0.8041 4|4 .|. .|. .|. .|. 8.5321|8.5321 0.33340|0.33340 0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0 .|. .|. .|. .|. N|K 306;163|397 .|. .|. D|R +|+ 1|2 0|0 PTPRF|PTPRF 43837078|43837078 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.976000|0.976000 0.68499|0.68499 1.815000|1.815000 0.38981|0.38981 2.143000|2.143000 0.66587|0.66587 0.449000|0.449000 0.29647|0.29647 GAT|AGA TCGA-Q3-AA2A-01A-11D-A377-08 PTPRF-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000019710.1 0 0 1 38 231 0 66 1 9.626193e-01 5 30 0 66 2 0 0 0 0 0 2 1 1.000000 38 228 0 66 2 0 0 0 0 66 2 -20.000000 1 1 0 0 1 1 2 3 2.063421 0 0.540000 1.930000 0.542471 0.520000 3.800000e-01 0.720000 0.520000 0.538772 0.520000 0 4.500000e-01 0.620000 PRPF38A 84950 broad.mit.edu 37 1 52870463 52870463 + Silent SNP C C G TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr1:52870463C>G ENST00000257181.9 + 1 228 c.42C>G c.(40-42)ggC>ggG p.G14G ORC1_ENST00000371566.1_5'Flank|PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371568.3_5'Flank NM_032864.3 NP_116253.2 Q8NAV1 PR38A_HUMAN pre-mRNA processing factor 38A 9 GCATCCATGGCACCAACCCTC 0.463000 OREG0013487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant ENST00000257181.9 1 1 hg19 CCDS567.1 TCGA-Q3-AA2A-01A-11D-A377-08 PRPF38A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022459.2 1 0 1 46 332 0 66 1 8.536296e-01 6 21 0 66 2 0 0 0 0 0 2 1 1.000000 46 330 0 66 2 0 0 0 0 66 2 -3.318809 1 0 0 0 1 1 2 3 2.063421 0 0.540000 1.930000 0.542471 0.450000 3.300000e-01 0.600000 0.450000 0.464831 0.450000 0 3.900000e-01 0.520000 ZNFX1 57169 broad.mit.edu 37 20 47871123 47871123 + Silent SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr20:47871123G>A ENST00000396105.1 - 10 3114 c.2868C>T c.(2866-2868)taC>taT p.Y956Y ZNFX1_ENST00000371754.4_Silent_p.Y956Y|ZNFX1_ENST00000371752.1_Silent_p.Y956Y NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGATGTGCGGTACTGGCGTT 0.512000 0 SO:0001819 synonymous_variant ENST00000396105.1 0 1 hg19 CCDS13417.1 TCGA-Q3-AA2A-01A-11D-A377-08 ZNFX1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079647.2 0 0 0 5 647 1 147 0 9.244146e-03 0 15 1 147 2 0 0 0 0 0 2 0 0.011594 5 639 1 145 16 0 0 0 1 147 2 -2.518560 1 1 0 0 1 0 1 1 2.032949 0 0.540000 1.930000 0.538755 0.020000 0 0.070000 0.030000 0.033123 0.020000 0 1.000000e-02 0.050000 CLTCL1 8218 broad.mit.edu 37 22 19209057 19209057 + Missense_Mutation SNP G G T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr22:19209057G>T ENST00000263200.10 - 17 2711 c.2639C>A c.(2638-2640)gCt>gAt p.A880D CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 49 Colorectal(54;0.0993) GTAGATTTTAGCCAGTGCATT 0.547000 T ? ALCL Dom yes 22 22q11.21 8218 clathrin, heavy polypeptide-like 1 L 0 SO:0001583 missense ENST00000263200.10 1 1 hg19 CCDS46662.1 . . . . . . . . . . G 16.30 3.083901 0.55861 . . ENSG00000070371 ENST00000353891;ENST00000263200;ENST00000427926 T;T;T 0.23552 1.9;1.9;1.9 3.63 3.63 0.41609 Tetratricopeptide-like helical (1);Armadillo-type fold (1); 0.072624 0.53938 D 0.000042 T 0.60919 0.2306 M 0.93898 3.47 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.97110 0.995;1.0 T 0.74902 -0.3506 10 0.87932 D 0 -3.9812 15.456 0.75314 0.0:0.0:1.0:0.0 . 880;880 P53675-2;P53675 .;CLH2_HUMAN D 880 ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D ENSP00000445677:A880D A - 2 0 CLTCL1 17589057 1.000000 0.71417 0.968000 0.41197 0.008000 0.06430 8.761000 0.91691 1.880000 0.54463 0.462000 0.41574 GCT TCGA-Q3-AA2A-01A-11D-A377-08 CLTCL1-001 KNOWN non_canonical_genome_sequence_error|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316397.5 1 0 1 14 60 0 15 0 4.101162e-02 0 2 0 15 2 0 0 0 0 0 2 1 0.999823 15 57 0 15 2 0 0 0 0 15 2 -20.000000 1 1 0 0 1 1 2 3 2.071007 0 0.540000 1.930000 0.542471 0.710000 4.200000e-01 1.000000 1.000000 0.724270 0.710000 0 5.500000e-01 0.900000 TTN 7273 broad.mit.edu 37 2 179410378 179410378 + Missense_Mutation SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr2:179410378C>T ENST00000591111.1 - 294 90760 c.90536G>A c.(90535-90537)gGc>gAc p.G30179D TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCTCTTTGCCAGTCCCAAC 0.423000 0 SO:0001583 missense ENST00000591111.1 0 1 hg19 . . . . . . . . . . C 18.40 3.615238 0.66672 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.58652 0.32;0.32;0.32;0.32 5.82 5.82 0.92795 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.64034 0.2562 N 0.25957 0.775 0.53005 D 0.999965 D;D;D;D 0.60160 0.987;0.987;0.987;0.987 P;P;P;P 0.58620 0.842;0.842;0.842;0.842 T 0.66787 -0.5835 9 0.87932 D 0 . 20.1086 0.97902 0.0:1.0:0.0:0.0 . 22755;22880;22947;30179 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN D 29252;22755;22947;22880;22752 ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D ENSP00000340554:G22947D G - 2 0 TTN 179118624 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 6.089000 0.71384 2.756000 0.94617 0.563000 0.77884 GGC TCGA-Q3-AA2A-01A-11D-A377-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 7 833 0 173 0 0 0 1 0 173 2 0 0 0 0 0 2 1 0.980131 7 828 0 172 2 0 0 0 0 173 2 -1.942573 0 1 0 0 1 0 0 0 2.015128 0 0.540000 1.930000 0.534978 0.020000 0 0.060000 0.040000 0.034226 0.020000 0 1.000000e-02 0.050000 SLC1A4 6509 broad.mit.edu 37 2 65245311 65245311 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr2:65245311G>A ENST00000234256.3 + 6 1384 c.1141G>A c.(1141-1143)Gga>Aga p.G381R SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 13 L-Alanine(DB00160) GAACATGGACGGAGCAGCCAT 0.512000 0 SO:0001583 missense ENST00000234256.3 0 1 hg19 CCDS1879.1 . . . . . . . . . . G 35 5.576656 0.96565 . . ENSG00000115902 ENST00000531327;ENST00000448784;ENST00000234256 D;D 0.84370 -1.84;-1.84 6.17 6.17 0.99709 Sodium:dicarboxylate symporter, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.96122 0.8736 H 0.98664 4.295 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.96776 0.9572 9 . . . -12.7631 20.8794 0.99867 0.0:0.0:1.0:0.0 . 381;83;381 P43007;B7Z3C0;B2R7N6 SATT_HUMAN;.;. R 83;301;381 ENSP00000431942:G83R;ENSP00000234256:G381R . G + 1 0 SLC1A4 65098815 1.000000 0.71417 0.283000 0.24790 0.980000 0.70556 9.869000 0.99810 2.941000 0.99782 0.655000 0.94253 GGA TCGA-Q3-AA2A-01A-11D-A377-08 SLC1A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251726.2 0 0 0 5 357 0 81 0 4.472958e-03 0 6 0 81 2 0 0 0 0 0 2 1 0.934703 5 350 0 81 2 0 0 0 0 81 2 -2.668004 1 1 0 0 1 0 1 1 2.032441 0 0.540000 1.930000 0.538755 0.050000 1.000000e-02 0.110000 0.060000 0.060706 0.050000 0 3.000000e-02 0.080000 ITGB1BP1 9270 broad.mit.edu 37 2 9547660 9547660 + Missense_Mutation SNP G G A rs17850889 byFrequency TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr2:9547660G>A ENST00000360635.3 - 7 1345 c.449C>T c.(448-450)gCg>gTg p.A150V ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR O14713 ITBP1_HUMAN integrin beta 1 binding protein 1 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCTTTTTCCCGCCCCCAGACC 0.483000 0 SO:0001583 missense ENST00000360635.3 1 1 hg19 CCDS1662.1 . . . . . . . . . . G 33 5.278080 0.95459 4.54E-4 1.16E-4 ENSG00000119185 ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913 . . . 5.61 5.61 0.85477 Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1); 0.000000 0.85682 D 0.000000 T 0.59582 0.2204 N 0.24115 0.695 0.80722 D 1 D;D;P 0.71674 0.998;0.99;0.944 P;P;P 0.55011 0.766;0.688;0.507 T 0.57159 -0.7859 9 0.36615 T 0.2 -23.8728 20.0086 0.97443 0.0:0.0:1.0:0.0 rs17850889 106;150;150 B4DQY5;A8MPU2;O14713 .;.;ITBP1_HUMAN V 150 . ENSP00000347504:A150V A - 2 0 ITGB1BP1 9465111 1.000000 0.71417 0.978000 0.43139 0.990000 0.78478 6.824000 0.75288 2.808000 0.96608 0.655000 0.94253 GCG TCGA-Q3-AA2A-01A-11D-A377-08 ITGB1BP1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314623.2 1 0 1 87 201 0 57 1 1 6 125 0 57 2 0 0 0 0 0 2 1 1.000000 85 197 0 57 2 0 0 0 0 57 2 -7.863670 1 1 121412 17 44 1 0 1 1 2.032441 0 0.540000 1.930000 0.538755 0.990000 9.200000e-01 1.000000 1.000000 0.994599 0.990000 1 9.900000e-01 1.000000 UROC1 131669 broad.mit.edu 37 3 126218205 126218205 + Missense_Mutation SNP G G T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr3:126218205G>T ENST00000290868.2 - 13 1344 c.1291C>A c.(1291-1293)Cct>Act p.P431T UROC1_ENST00000383579.3_Missense_Mutation_p.P491T NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 39 ACATAGGAAGGGTAGCGGAAC 0.627000 0 SO:0001583 missense ENST00000290868.2 1 1 hg19 CCDS3038.1 . . . . . . . . . . G 18.26 3.583912 0.65992 . . ENSG00000159650 ENST00000290868;ENST00000383579 T;T 0.64438 -0.1;-0.1 4.89 4.89 0.63831 Urocanase domain (2); 0.000000 0.85682 D 0.000000 D 0.85371 0.5681 H 0.95850 3.73 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.90105 0.4187 10 0.72032 D 0.01 0.5184 15.5628 0.76262 0.0:0.0:1.0:0.0 . 491;431 E9PE13;Q96N76 .;HUTU_HUMAN T 431;491 ENSP00000290868:P431T;ENSP00000373073:P491T ENSP00000290868:P431T P - 1 0 UROC1 127700895 1.000000 0.71417 1.000000 0.80357 0.484000 0.33280 9.216000 0.95154 2.262000 0.75019 0.585000 0.79938 CCT TCGA-Q3-AA2A-01A-11D-A377-08 UROC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000370325.2 1 0 1 27 105 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 27 105 0 27 2 0 0 0 0 27 2 -20.000000 1 1 0 0 1 0 0 0 2.040625 0 0.540000 1.930000 0.540000 0.750000 5.200000e-01 1.000000 1.000000 0.766332 0.750000 0 6.300000e-01 0.890000 CNTN3 5067 broad.mit.edu 37 3 74344358 74344358 + Missense_Mutation SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr3:74344358C>T ENST00000263665.6 - 18 2458 c.2431G>A c.(2431-2433)Gca>Aca p.A811T NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) AGGCTATTTGCAGAGACTTGA 0.383000 0 SO:0001583 missense ENST00000263665.6 1 1 hg19 CCDS33790.1 . . . . . . . . . . C 25.3 4.619386 0.87460 . . ENSG00000113805 ENST00000263665 T 0.60299 0.2 5.63 5.63 0.86233 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.176408 0.50627 D 0.000108 T 0.62196 0.2408 M 0.63843 1.955 0.51233 D 0.999919 B 0.27166 0.17 B 0.37692 0.256 T 0.62863 -0.6764 10 0.59425 D 0.04 . 14.528 0.67902 0.1464:0.8535:0.0:0.0 . 811 Q9P232 CNTN3_HUMAN T 811 ENSP00000263665:A811T ENSP00000263665:A811T A - 1 0 CNTN3 74427048 1.000000 0.71417 0.435000 0.26784 0.996000 0.88848 5.357000 0.66058 2.649000 0.89929 0.650000 0.86243 GCA TCGA-Q3-AA2A-01A-11D-A377-08 CNTN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352306.1 1 0 1 90 243 0 72 1 2.991880e-01 3 1 0 72 2 0 0 0 0 0 2 1 1.000000 88 240 0 72 2 0 0 0 0 72 2 -20.000000 1 1 121406 1 33 1 0 0 0 2.040625 0 0.540000 1.930000 0.540000 0.990000 8.200000e-01 1.000000 1.000000 0.965860 0.990000 1 9.000000e-01 1.000000 GABRR3 200959 broad.mit.edu 37 3 97744480 97744480 + RNA SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr3:97744480G>A ENST00000472788.1 - 0 170 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene) 3 Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897) TTCTGAGGCCGCGCTTTGGTA 0.383000 0 ENST00000472788.1 1 1 hg19 TCGA-Q3-AA2A-01A-11D-A377-08 GABRR3-002 KNOWN not_organism_supported|basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000353445.2 0 0 0 41 118 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 1.000000 41 118 0 30 2 0 0 0 0 31 2 -20.000000 1 1 120784 3 35 1 0 0 0 2.040625 0 0.540000 1.930000 0.540000 0.950000 7.100000e-01 1.000000 1.000000 0.926947 0.950000 1 8.200000e-01 1.000000 C4orf50 389197 broad.mit.edu 37 4 5969155 5969155 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr4:5969155G>A ENST00000324058.5 - 5 532 c.443C>T c.(442-444)aCg>aTg p.T148M C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 15 TAAAGCTGCCGTCATCTCAGA 0.532000 0 SO:0001583 missense ENST00000324058.5 1 1 hg19 . . . . . . . . . . G 13.64 2.296676 0.40594 . . ENSG00000181215 ENST00000531445;ENST00000324058 T;T 0.27720 1.65;1.65 2.99 2.99 0.34606 . 0.665167 0.13125 N 0.411927 T 0.47340 0.1440 L 0.56769 1.78 0.09310 N 1 D 0.89917 1.0 D 0.67900 0.954 T 0.17289 -1.0374 10 0.72032 D 0.01 -2.3166 9.7214 0.40306 0.0:0.0:1.0:0.0 . 148 Q6ZRC1 CD050_HUMAN M 622;148 ENSP00000437121:T622M;ENSP00000317287:T148M ENSP00000317287:T148M T - 2 0 C4orf50 6020056 0.002000 0.14202 0.003000 0.11579 0.140000 0.21249 1.108000 0.31123 1.992000 0.58205 0.655000 0.94253 ACG TCGA-Q3-AA2A-01A-11D-A377-08 C4orf50-201 KNOWN basic|appris_candidate protein_coding protein_coding 0 0 0 12 458 0 99 0 0 0 0 99 2 0 0 0 0 0 2 1 0.999091 12 454 0 99 2 0 0 0 0 99 2 -3.404082 1 1 121412 1 40 1 1 2 3 2.048279 0 0.540000 1.930000 0.541239 0.090000 4.000000e-02 0.170000 0.100000 0.102103 0.090000 0 6.000000e-02 0.130000 BMP3 651 broad.mit.edu 37 4 81967241 81967241 + Silent SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr4:81967241G>A ENST00000282701.2 + 2 986 c.666G>A c.(664-666)acG>acA p.T222T NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 29 TTAACATTACGTCCAAGGGAC 0.438000 0 SO:0001819 synonymous_variant ENST00000282701.2 0 1 hg19 CCDS3588.1 TCGA-Q3-AA2A-01A-11D-A377-08 BMP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252634.1 0 0 0 13 623 0 110 0 0 0 0 110 2 0 0 0 0 0 2 1 0.999507 13 617 0 109 2 0 0 0 0 110 2 -2.758140 1 1 121412 8 45 1 1 2 3 2.048279 0 0.540000 1.930000 0.541239 0.070000 3.000000e-02 0.130000 0.080000 0.081389 0.070000 0 5.000000e-02 0.100000 PCDHGA10 56106 broad.mit.edu 37 5 140794655 140794655 + Missense_Mutation SNP A A G TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr5:140794655A>G ENST00000398610.2 + 1 1913 c.1913A>G c.(1912-1914)gAc>gGc p.D638G PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGCTGGACAGAGACGCG 0.701000 0 SO:0001583 missense ENST00000398610.2 1 1 hg19 CCDS47292.1 . . . . . . . . . . a 17.83 3.486542 0.63962 . . ENSG00000253846 ENST00000398610 T 0.65178 -0.14 5.39 5.39 0.77823 Cadherin (4);Cadherin-like (1); . . . . T 0.75882 0.3910 M 0.64404 1.975 0.31302 N 0.688228 D;D 0.59767 0.973;0.986 P;D 0.65573 0.786;0.936 T 0.78705 -0.2100 9 0.72032 D 0.01 . 15.1502 0.72692 1.0:0.0:0.0:0.0 . 638;638 Q9Y5H3-2;Q9Y5H3 .;PCDGA_HUMAN G 638 ENSP00000381611:D638G ENSP00000381611:D638G D + 2 0 PCDHGA10 140774839 1.000000 0.71417 1.000000 0.80357 0.717000 0.41224 4.721000 0.61951 2.061000 0.61500 0.454000 0.30748 GAC TCGA-Q3-AA2A-01A-11D-A377-08 PCDHGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374747.1 1 0 1 56 411 0 122 0 0 0 0 122 2 0 0 0 0 0 2 1 1.000000 55 400 0 119 2 0 0 0 0 122 2 -20.000000 1 1 0 0 1 0 0 0 2.036714 0 0.540000 1.930000 0.540000 0.440000 3.300000e-01 0.560000 0.440000 0.449300 0.440000 0 3.800000e-01 0.500000 GALNT10 55568 broad.mit.edu 37 5 153760011 153760011 + Missense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr5:153760011G>A ENST00000297107.6 + 6 895 c.758G>A c.(757-759)cGc>cAc p.R253H SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN polypeptide N-acetylgalactosaminyltransferase 10 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TCTTCAGACCGCATTGCTCGG 0.502000 0 SO:0001583 missense ENST00000297107.6 0 1 hg19 CCDS4325.1 . . . . . . . . . . G 20.7 4.038191 0.75617 . . ENSG00000164574 ENST00000425427;ENST00000297107;ENST00000377661 T;T;T 0.61742 0.08;0.08;0.22 5.41 5.41 0.78517 Glycosyl transferase, family 2 (1); 0.052285 0.85682 D 0.000000 T 0.70029 0.3177 M 0.67625 2.065 0.80722 D 1 D;D;D 0.76494 0.991;0.999;0.997 P;P;P 0.59288 0.855;0.801;0.607 T 0.71487 -0.4578 10 0.51188 T 0.08 . 14.7691 0.69662 0.0:0.1441:0.8559:0.0 . 191;253;253 Q86SR1-2;Q86SR1;Q86SR1-3 .;GLT10_HUMAN;. H 253;253;191 ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H ENSP00000297107:R253H R + 2 0 GALNT10 153740204 1.000000 0.71417 0.998000 0.56505 0.959000 0.62525 6.457000 0.73505 2.535000 0.85469 0.462000 0.41574 CGC TCGA-Q3-AA2A-01A-11D-A377-08 GALNT10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252453.1 0 0 0 5 537 0 125 0 2.833145e-03 0 7 0 125 2 0 0 0 0 0 2 1 0.936583 5 533 0 125 2 0 0 0 0 125 2 -1.860100 0 1 121412 1 34 1 0 0 0 2.036714 0 0.540000 1.930000 0.540000 0.030000 0 0.080000 0.040000 0.040351 0.030000 0 1.000000e-02 0.060000 OSMR 9180 broad.mit.edu 37 5 38881767 38881767 + Missense_Mutation SNP T T C TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr5:38881767T>C ENST00000274276.3 + 4 721 c.319T>C c.(319-321)Tgt>Cgt p.C107R OSMR_ENST00000502536.1_Missense_Mutation_p.C107R NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 46 all_lung(31;0.000365) CCCTTTGGAATGTGCCACACA 0.473000 0 SO:0001583 missense ENST00000274276.3 1 1 hg19 CCDS3928.1 . . . . . . . . . . T 16.77 3.215522 0.58452 . . ENSG00000145623 ENST00000502536;ENST00000274276 T;T 0.64085 -0.08;-0.08 5.81 5.81 0.92471 . 0.098018 0.85682 D 0.000000 T 0.77948 0.4207 M 0.74881 2.28 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 T 0.80571 -0.1323 10 0.87932 D 0 . 12.5437 0.56186 0.0:0.0:0.0:1.0 . 107;107 Q99650;Q99650-2 OSMR_HUMAN;. R 107 ENSP00000422023:C107R;ENSP00000274276:C107R ENSP00000274276:C107R C + 1 0 OSMR 38917524 1.000000 0.71417 0.998000 0.56505 0.409000 0.31022 4.331000 0.59273 2.216000 0.71823 0.533000 0.62120 TGT TCGA-Q3-AA2A-01A-11D-A377-08 OSMR-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000207609.2 1 0 1 105 331 0 109 1 2.479079e-01 2 2 0 109 2 0 0 0 0 0 2 1 1.000000 104 329 0 108 2 0 0 0 0 109 2 -20.000000 1 1 0 0 1 0 0 0 2.040364 0 0.540000 1.930000 0.540000 0.880000 7.400000e-01 1.000000 1.000000 0.891429 0.880000 1 8.100000e-01 0.970000 ELOVL4 6785 broad.mit.edu 37 6 80635984 80635984 + Missense_Mutation SNP G G T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr6:80635984G>T ENST00000369816.4 - 2 515 c.215C>A c.(214-216)cCt>cAt p.P72H NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) Alpha-Linolenic Acid(DB00132) CATCTGAAAAGGTTCTCGGTC 0.393000 0 SO:0001583 missense ENST00000369816.4 1 1 hg19 CCDS4992.1 . . . . . . . . . . G 29.2 4.983967 0.93044 . . ENSG00000118402 ENST00000369816 T 0.26810 1.71 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 T 0.65450 0.2692 H 0.98068 4.14 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.78841 -0.2045 10 0.87932 D 0 -9.8818 19.1531 0.93496 0.0:0.0:1.0:0.0 . 72 Q9GZR5 ELOV4_HUMAN H 72 ENSP00000358831:P72H ENSP00000358831:P72H P - 2 0 ELOVL4 80692703 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 9.476000 0.97823 2.753000 0.94483 0.655000 0.94253 CCT TCGA-Q3-AA2A-01A-11D-A377-08 ELOVL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041315.1 1 0 1 77 268 0 68 0 0 0 0 68 2 0 0 0 0 0 2 1 1.000000 77 266 0 68 2 0 0 0 0 68 2 -20.000000 1 1 121408 1 31 1 0 0 0 2.019237 0 0.540000 1.930000 0.537503 0.810000 6.600000e-01 0.980000 0.830000 0.825280 0.810000 0 7.300000e-01 0.910000 MOSPD3 64598 broad.mit.edu 37 7 100211247 100211247 + Silent SNP G G A rs5886124 TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr7:100211247G>A ENST00000393950.2 + 3 711 c.429G>A c.(427-429)gaG>gaA p.E143E MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACCCCCTTGAGCTTCAGGGAC 0.637000 0 SO:0001819 synonymous_variant ENST00000393950.2 1 1 hg19 CCDS5701.1 TCGA-Q3-AA2A-01A-11D-A377-08 MOSPD3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356395.1 1 0 0 20 294 0 76 1 9.812130e-01 6 91 0 76 2 0 0 0 0 0 2 1 0.999996 20 292 0 75 2 0 0 0 0 76 2 -19.999850 1 1 0 0 1 0 0 0 2.037488 0 0.540000 1.930000 0.540000 0.230000 1.400000e-01 0.350000 0.240000 0.245452 0.230000 0 1.800000e-01 0.300000 ZFAND2A 90637 broad.mit.edu 37 7 1195155 1195155 + Silent SNP T T A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr7:1195155T>A ENST00000316495.3 - 4 475 c.216A>T c.(214-216)ccA>ccT p.P72P ZFAND2A_ENST00000401903.1_Silent_p.P72P NM_182491.2 NP_872297.2 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 3 Ovarian(82;0.11) CCACCACGTCTGGTATCTGGC 0.483000 0 SO:0001819 synonymous_variant ENST00000316495.3 1 1 hg19 CCDS5323.1 TCGA-Q3-AA2A-01A-11D-A377-08 ZFAND2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239220.2 0 0 1 138 493 0 116 1 1 31 56 0 116 2 0 0 0 0 0 2 1 1.000000 138 485 0 116 2 0 0 0 0 116 2 -20.000000 1 1 0 0 1 1 2 3 2.488621 1 0.540000 1.930000 0.623383 0.990000 8.400000e-01 1.000000 1.000000 0.970748 0.990000 1 9.100000e-01 1.000000 KRIT1 889 broad.mit.edu 37 7 91865794 91865794 + Nonsense_Mutation SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr7:91865794G>A ENST00000340022.2 - 7 1436 c.418C>T c.(418-420)Cga>Tga p.R140* KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140* NM_004912.3|NM_194455.1 NP_004903.2|NP_919437.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing p.R140*(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTACAGACTCGCATAATATCT 0.318000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000340022.2 0 1 hg19 CCDS5624.1 . . . . . . . . . . G 38 7.271354 0.98179 . . ENSG00000001631 ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017 . . . 5.17 0.483 0.16820 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -4.7004 15.7344 0.77831 0.0:0.0:0.2068:0.7932 . . . . X 140 . ENSP00000344668:R140X R - 1 2 KRIT1 91703730 1.000000 0.71417 1.000000 0.80357 0.874000 0.50279 1.282000 0.33226 0.065000 0.16485 -0.238000 0.12139 CGA TCGA-Q3-AA2A-01A-11D-A377-08 KRIT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253910.1 1 0 1 100 225 0 69 0 2.280106e-01 0 3 0 69 2 0 0 0 0 0 2 1 1.000000 100 225 0 68 2 0 0 0 0 69 2 -8.826397 1 1 0 0 1 0 0 0 2.037488 0 0.540000 1.930000 0.540000 0.990000 9.500000e-01 1.000000 1.000000 0.997467 0.990000 1 9.900000e-01 1.000000 CSMD1 64478 broad.mit.edu 37 8 2820823 2820823 + Silent SNP G G A TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr8:2820823G>A ENST00000520002.1 - 61 9933 c.9378C>T c.(9376-9378)gaC>gaT p.D3126D CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D|CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000602723.1_Silent_p.D2949D Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) GCTGGTAACCGTCCATGCAGC 0.562000 0 SO:0001819 synonymous_variant ENST00000520002.1 0 1 hg19 . . . . . . . . . . G 0.254 -1.004364 0.02112 . . ENSG00000183117 ENST00000335551 . . . 5.69 -2.77 0.05877 . . . . . T 0.36552 0.0971 . . . 0.80722 D 1 . . . . . . T 0.34354 -0.9832 4 . . . . 0.4751 0.00538 0.3679:0.2388:0.1773:0.216 . . . . W 2543 . . R - 1 2 CSMD1 2808230 0.000000 0.05858 0.047000 0.18901 0.110000 0.19582 -1.200000 0.03029 -0.162000 0.10964 -0.136000 0.14681 CGG TCGA-Q3-AA2A-01A-11D-A377-08 CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 0 0 0 5 589 0 121 0 0 0 0 121 2 0 0 0 0 0 2 1 0.934951 5 579 0 121 2 0 0 0 0 121 2 -2.498943 0 1 120858 2 37 1 0 0 0 2.039547 0 0.540000 1.930000 0.540000 0.030000 0 0.070000 0.040000 0.036638 0.030000 0 1.000000e-02 0.050000 SLCO5A1 81796 broad.mit.edu 37 8 70744099 70744099 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr8:70744099C>T ENST00000260126.4 - 2 1516 c.810G>A c.(808-810)gcG>gcA p.A270A RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 p.A270A(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGAGAATCTGCGCGCAAATGA 0.502000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000260126.4 0 1 hg19 CCDS6205.1 TCGA-Q3-AA2A-01A-11D-A377-08 SLCO5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381990.3 0 0 0 7 397 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.979940 7 394 0 87 2 0 0 0 0 88 2 -2.509814 1 1 0 0 1 0 0 0 2.035975 0 0.540000 1.930000 0.540000 0.060000 2.000000e-02 0.130000 0.060000 0.072825 0.060000 0 4.000000e-02 0.100000 C9orf24 84688 broad.mit.edu 37 9 34381380 34381380 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43b83885-061c-45d6-b8eb-11650ad2db96 977811bf-1722-4d2b-9347-69902f08c59a g.chr9:34381380C>T ENST00000297623.2 - 4 657 c.459G>A c.(457-459)cgG>cgA p.R153R C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000481295.1_5'Flank NM_032596.3 NP_115985.2 Q8NCR6 SMRP1_HUMAN chromosome 9 open reading frame 24 5 LUSC - Lung squamous cell carcinoma(29;0.0107) AGGCATTGAGCCGCTCCGGCC 0.612000 0 SO:0001819 synonymous_variant ENST00000297623.2 0 1 hg19 CCDS6554.1 TCGA-Q3-AA2A-01A-11D-A377-08 C9orf24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001098.3 0 0 0 5 560 1 123 0 0 0 1 123 2 0 0 0 0 0 2 0 0.010500 5 544 1 122 16 0 0 0 1 123 2 -1.964080 0 1 0 0 1 1 2 3 2.113925 0 0.540000 1.930000 0.548533 0.030000 0 1.000000 0.040000 0.092904 0.030000 0 1.000000e-02 0.060000