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 PUS3 83480 broad.mit.edu 37 11 125763815 125763816 + Frame_Shift_Ins INS - - TCAA TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 - TCAA - - Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:125763815_125763816insTCAA ENST00000530811.1 - 3 1355_1356 c.1310_1311insTTGA c.(1309-1311)gagfs p.E437fs HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) AATGTGGGTGCTCAATTCGTCC 0.465000 0 SO:0001589 frameshift_variant ENST00000530811.1 0 1 hg19 CCDS8466.1 TCGA-FB-AAQ0-01A-31D-A40W-08 PUS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386783.1 1 0 0 240 955 0 190 0 9.999863e-01 0 64 0 190 2 0 0 0 0 0 0 1 1.000000 275 961 0 185 2 -20.000000 1 1 0 0 1 1 2 3 2.189883 0 0.670000 1.880000 0.682753 0.620000 5.500000e-01 1.000000 0.620000 0.661175 0.620000 0 5.800000e-01 6.800000e-01 ZNF485 220992 broad.mit.edu 37 10 44104721 44104721 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:44104721C>A ENST00000361807.3 + 4 364 c.170C>A c.(169-171)cCa>cAa p.P57Q ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 16 TCTTCCAAACCAAAACTAATT 0.468000 0 SO:0001583 missense ENST00000361807.3 0 1 hg19 CCDS7205.2 . . . . . . . . . . C 12.580000 1.980972 0.349420 . . ENSG00000198298 ENST00000361807;ENST00000430885;ENST00000374435 T;T;T 0.00986 5.47;5.47;5.47 3.040000 2.110000 0.272560 Krueppel-associated box (3); . . . . T 0.01695 0.0054 M 0.76328 2.33 0.807220 D 1.000000 B 0.31548 0.328 B 0.34138 0.176 T 0.53732 -0.8397 9 0.52906 T 0.07 . 7.809400 0.292210 0.0:0.8675:0.0:0.1325 . 57 Q8NCK3 ZN485_HUMAN Q 57 ENSP00000354694:P57Q;ENSP00000393570:P57Q;ENSP00000363558:P57Q ENSP00000354694:P57Q P + 2 0 ZNF485 43424727 0.395000 0.25254 6.290000e-01 0.292540 5.100000e-01 0.340730 0.455000 0.21843 0.599000 0.298450 0.455000 0.322230 CCA TCGA-FB-AAQ0-01A-31D-A40W-08 ZNF485-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047719.2 0 0 0 4 189 0 32 0 7.849294e-04 0 2 0 32 2 0 0 0 0 0 2 1 0.886262 4 185 0 32 2 -5.859047 1 1 0 0 1 0 2 2 2.035076 1 0.670000 1.880000 0.670000 0.070000 1.000000e-02 1.000000 0.060000 0.232270 0.070000 0 4.000000e-02 1 PPP1R3C 5507 broad.mit.edu 37 10 93389939 93389939 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr10:93389939C>G ENST00000238994.5 - 2 783 c.699G>C c.(697-699)gaG>gaC p.E233D NM_005398.5 NP_005389.1 protein phosphatase 1, regulatory subunit 3C 12 Colorectal(252;0.235) AAATGCAGAACTCAATTTTCT 0.408000 0 SO:0001583 missense ENST00000238994.5 0 1 hg19 CCDS7416.1 . . . . . . . . . . C 17.860000 3.493100 0.641860 . . ENSG00000119938 ENST00000238994;ENST00000438999;ENST00000500094 T 0.65916 -0.18 5.730000 4.820000 0.621170 Putative phosphatase regulatory subunit (2); 0.054846 0.64402 D 0.000001 T 0.78641 0.4315 M 0.87097 2.86 0.584320 D 0.999993 D 0.71674 0.998 D 0.87578 0.998 T 0.79315 -0.1854 10 0.48119 T 0.1 -33.3203 8.699000 0.343140 0.0:0.7879:0.0:0.2121 . 233 Q9UQK1 PPR3C_HUMAN D 233;213;115 ENSP00000238994:E233D ENSP00000238994:E233D E - 3 2 PPP1R3C 93379919 0.998000 0.40836 1 0.803570 9.980000e-01 0.957120 0.666000 0.25097 2.699000 0.921470 0.655000 0.942530 GAG TCGA-FB-AAQ0-01A-31D-A40W-08 PPP1R3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049372.1 0 0 0 9 484 0 112 0 2.602478e-03 0 4 0 112 2 0 0 0 0 0 2 1 0.994086 9 480 0 112 2 -7.984646 1 1 0 0 1 0 2 2 2.060687 1 0.670000 1.880000 0.670000 0.050000 2.000000e-02 1.000000 0.060000 0.228820 0.050000 0 3.000000e-02 1 DYNC2H1 79659 broad.mit.edu 37 11 103057008 103057008 + Missense_Mutation SNP A A T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:103057008A>T ENST00000375735.2 + 42 6815 c.6671A>T c.(6670-6672)cAc>cTc p.H2224L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) CCAGACTTTCACAAACCTATG 0.393000 0 SO:0001583 missense ENST00000375735.2 0 1 hg19 CCDS53701.1 . . . . . . . . . . A 12.050000 1.821861 0.322370 . . ENSG00000187240 ENST00000375735;ENST00000398093 T;T 0.26660 1.72;1.72 5.610000 5.610000 0.854770 . . . . . T 0.21921 0.0528 L 0.44542 1.39 0.303000 N 0.789519 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.08351 -1.0726 9 0.41790 T 0.15 . 7.982200 0.301900 0.8427:0.0:0.1573:0.0 . 2224;2224 Q8NCM8;Q8NCM8-2 DYHC2_HUMAN;. L 2224 ENSP00000364887:H2224L;ENSP00000381167:H2224L ENSP00000364887:H2224L H + 2 0 DYNC2H1 102562218 0.999000 0.42202 9.990000e-01 0.593770 9.650000e-01 0.642790 3.816000 0.55658 2.127000 0.655070 0.454000 0.307480 CAC TCGA-FB-AAQ0-01A-31D-A40W-08 DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 0 0 0 4 156 0 40 0 2.070018e-02 0 7 0 40 2 0 0 0 0 0 2 1 0.889897 4 155 0 39 2 -6.582075 1 1 120756 1 28 1 1 2 3 2.189883 0 0.670000 1.880000 0.682753 0.090000 2.000000e-02 1.000000 0.080000 0.182955 0.090000 0 5.000000e-02 1.600000e-01 PPP2R1B 5519 broad.mit.edu 37 11 111626165 111626165 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:111626165G>A ENST00000527614.1 - 6 762 c.697C>T c.(697-699)Cgc>Tgc p.R233C PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) GCAAGGAGGCGCACTGAATCC 0.448000 0 SO:0001583 missense ENST00000527614.1 1 1 hg19 CCDS8349.1 . . . . . . . . . . G 25.700000 4.665575 0.882510 4.54E-4 1.16E-4 ENSG00000137713 ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055 T;T;T;T;T;T 0.55588 0.51;0.51;0.51;0.51;0.51;0.51 5.500000 5.500000 0.815520 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.82171 0.4979 H 0.97077 3.935 0.807220 D 1.000000 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;0.994;1.0;1.0;0.998;1.0 D 0.88083 0.2808 10 0.87932 D 0 -6.6676 16.872200 0.860430 0.0:0.0:1.0:0.0 . 106;233;72;169;233;233 A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2 .;.;.;.;2AAB_HUMAN;. C 233;106;169;233;72;233;106 ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C ENSP00000311344:R233C R - 1 0 PPP2R1B 111131375 1.000000 0.71417 1 0.803570 9.210000e-01 0.553400 7.360000 0.79487 2.585000 0.873010 0.655000 0.942530 CGC TCGA-FB-AAQ0-01A-31D-A40W-08 PPP2R1B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000391298.1 1 0 1 35 215 0 67 1 7.403206e-01 2 16 0 67 2 0 0 0 0 0 2 1 1.000000 36 212 0 63 2 -20.000000 1 1 121410 7 40 1 1 2 3 2.189883 0 0.670000 1.880000 0.682753 0.440000 3.100000e-01 1.000000 0.430000 0.496621 0.440000 0 3.700000e-01 5.500000e-01 DCDC1 341019 broad.mit.edu 37 11 30926703 30926703 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr11:30926703C>A ENST00000597505.1 - 29 4112 c.4113G>T c.(4111-4113)ttG>ttT p.L1371F DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F P59894 DCDC1_HUMAN doublecortin domain containing 1 31 Lung SC(675;0.225) TGTCACACGACAAATCAACCt 0.363000 0 SO:0001583 missense ENST00000597505.1 0 1 hg19 . . . . . . . . . . C 12.700000 2.016517 0.356060 . . ENSG00000170959 ENST00000406071;ENST00000339794 . . . 5.310000 4.120000 0.482400 . 0.000000 0.43110 D 0.000601 T 0.63733 0.2536 M 0.71581 2.175 0.262730 N 0.978396 D 0.89917 1.0 D 0.83275 0.996 T 0.56171 -0.8023 8 . . . -8.0964 8.793500 0.348660 0.0:0.0887:0.0:0.9113 . 450 Q6ZRR9 DCDC5_HUMAN F 106;450 . . L - 3 2 DCDC5 30883279 1.000000 0.71417 9.960000e-01 0.522420 2.600000e-02 0.113680 1.008000 0.29872 0.844000 0.350940 -0.290000 0.098290 TTG TCGA-FB-AAQ0-01A-31D-A40W-08 DCDC1-010 PUTATIVE basic protein_coding protein_coding OTTHUMT00000463167.1 0 0 0 22 42 0 9 0 0 0 0 9 2 0 0 0 0 0 2 1 1.000000 20 41 0 9 2 -20.000000 1 1 0 0 1 1 2 3 2.184340 0 0.670000 1.880000 0.679658 0.990000 7.200000e-01 1.000000 1.000000 0.960066 0.990000 1 8.800000e-01 1 P2RX7 5027 broad.mit.edu 37 12 121622380 121622380 + Silent SNP C C T rs2230913 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:121622380C>T ENST00000546057.1 + 13 1706 c.1563C>T c.(1561-1563)caC>caT p.H521H P2RX7_ENST00000443520.3_3'UTR|RP11-340F14.5_ENST00000569999.1_RNA|P2RX7_ENST00000541446.1_Silent_p.H232H|P2RX7_ENST00000535250.1_Silent_p.H431H|P2RX7_ENST00000328963.5_Silent_p.H351H NM_002562.5 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGTCCAGACACGTCCTGCAGT 0.627000 0 SO:0001819 synonymous_variant ENST00000546057.1 1 0 hg19 CCDS9213.1 TCGA-FB-AAQ0-01A-31D-A40W-08 P2RX7-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402532.1 1 0 1 32 102 0 25 0 0 0 1 0 25 2 0 0 0 0 0 2 1 1.000000 31 99 0 24 2 -1.709817 0 1 121412 1552 60 1 0 1 1 2.017093 1 0.670000 1.880000 0.647568 0.660000 4.800000e-01 0.870000 0.670000 0.675424 0.660000 0 5.600000e-01 7.700000e-01 DNAH10 196385 broad.mit.edu 37 12 124323215 124323215 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:124323215C>T ENST00000409039.3 + 28 4786 c.4761C>T c.(4759-4761)tgC>tgT p.C1587C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) ACCCACTCTGCGTCCAGGAGC 0.537000 0 SO:0001819 synonymous_variant ENST00000409039.3 1 1 hg19 CCDS9255.2 TCGA-FB-AAQ0-01A-31D-A40W-08 DNAH10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335420.3 1 0 0 20 426 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.999995 20 421 0 86 2 -4.430493 1 1 120908 6 38 1 0 1 1 2.017093 1 0.670000 1.880000 0.647568 0.120000 7.000000e-02 0.190000 0.130000 0.130865 0.120000 0 9.000000e-02 1.600000e-01 RIMBP2 23504 broad.mit.edu 37 12 130926715 130926715 + Silent SNP C C T rs138793493 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:130926715C>T ENST00000261655.4 - 8 1294 c.1131G>A c.(1129-1131)tcG>tcA p.S377S RIMBP2_ENST00000536002.1_Silent_p.S285S|RIMBP2_ENST00000535703.1_Silent_p.S285S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) GCAGCTCATCCGAGCTGCCCC 0.637000 0 SO:0001819 synonymous_variant ENST00000261655.4 1 0 hg19 CCDS31925.1 TCGA-FB-AAQ0-01A-31D-A40W-08 RIMBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399520.1 0 0 1 39 166 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 1.000000 39 163 0 36 2 -2.838707 1 1 121412 253 55 1 0 1 1 2.017093 1 0.670000 1.880000 0.647568 0.520000 3.900000e-01 0.680000 0.530000 0.538681 0.520000 0 4.500000e-01 6.100000e-01 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 C G C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 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 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 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 28.600000 4.930538 0.923890 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.807220 D 1.000000 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.371900 0.904090 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1.000000 0.71417 1 0.803570 9.980000e-01 0.957120 7.743000 0.85020 2.668000 0.907890 0.563000 0.778840 GGT TCGA-FB-AAQ0-01A-31D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 54 147 0 62 1 9.691807e-01 10 8 0 62 2 1 1 103 226 0 204 2 1 1.000000 53 147 0 60 2 -20.000000 1 1 0 0 1 0 1 1 2.030175 1 0.670000 1.880000 0.648824 0.740000 5.800000e-01 0.920000 0.750000 0.757835 0.740000 0 6.600000e-01 8.400000e-01 MCF2L 23263 broad.mit.edu 37 13 113678964 113678964 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr13:113678964G>A ENST00000375608.3 + 4 318 c.260G>A c.(259-261)cGg>cAg p.R87Q MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R90Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCAGGTGGGCGGGGGCAGGAC 0.612000 0 SO:0001583 missense ENST00000375608.3 1 1 hg19 . . . . . . . . . . G 32.000000 5.122466 0.944290 . . ENSG00000126217 ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000433807;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397024 T;T;T;T;T;T;T;T;T;T;T 0.65549 -0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16 4.160000 4.160000 0.488620 Cellular retinaldehyde-binding/triple function, C-terminal (2); 0.000000 0.85682 D 0.000000 T 0.80259 0.4590 M 0.83774 2.66 0.469810 D 0.999278 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;0.999;1.0 D 0.84359 0.0537 10 0.87932 D 0 . 15.586000 0.764820 0.0:0.0:1.0:0.0 . 55;57;114;55;87 E9PDN8;O15068-9;G5E9A1;O15068-4;O15068 .;.;.;.;MCF2L_HUMAN Q 87;87;114;90;57;57;61;61;63;63;28;55;55;55 ENSP00000364758:R87Q;ENSP00000401422:R87Q;ENSP00000364754:R114Q;ENSP00000380225:R90Q;ENSP00000440374:R57Q;ENSP00000397285:R61Q;ENSP00000364751:R61Q;ENSP00000407722:R63Q;ENSP00000386551:R28Q;ENSP00000405639:R55Q;ENSP00000364747:R55Q ENSP00000364747:R55Q R + 2 0 MCF2L 112726965 1.000000 0.71417 1 0.803570 8.690000e-01 0.498530 5.629000 0.67798 2.037000 0.602320 0.462000 0.415740 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 MCF2L-001 KNOWN basic protein_coding protein_coding OTTHUMT00000045849.4 1 0 0 26 410 0 84 0 1.127690e-02 0 3 0 84 2 0 0 0 0 0 2 1 1.000000 26 398 0 82 2 -2.642100 1 1 121412 4 31 1 1 2 3 2.375185 1 0.670000 1.880000 0.708995 0.210000 1.300000e-01 1.000000 0.200000 0.392427 0.210000 0 1.700000e-01 1 HECTD1 25831 broad.mit.edu 37 14 31575880 31575880 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:31575880C>T ENST00000399332.1 - 38 7686 c.7198G>A c.(7198-7200)Ggg>Agg p.G2400R HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) AGTGGAGGCCCAGAACCTGAT 0.378000 0 SO:0001583 missense ENST00000399332.1 0 1 hg19 CCDS41939.1 . . . . . . . . . . C 24.300000 4.519115 0.854950 . . ENSG00000092148 ENST00000553700;ENST00000261312;ENST00000399332 T;T 0.41758 0.99;0.99 5.810000 5.810000 0.924710 HECT (4); 0.000000 0.64402 U 0.000001 T 0.64560 0.2609 M 0.77103 2.36 0.807220 D 1.000000 D 0.58620 0.983 P 0.58266 0.836 T 0.66638 -0.5873 10 0.66056 D 0.02 -8.2215 20.069500 0.977160 0.0:1.0:0.0:0.0 . 2400 Q9ULT8 HECD1_HUMAN R 2400;2402;2400 ENSP00000450697:G2400R;ENSP00000382269:G2400R ENSP00000261312:G2402R G - 1 0 HECTD1 30645631 1.000000 0.71417 1 0.803570 9.930000e-01 0.825480 7.484000 0.81180 2.738000 0.938770 0.655000 0.942530 GGG TCGA-FB-AAQ0-01A-31D-A40W-08 HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409942.1 0 0 0 9 377 0 86 0 9.251385e-01 1 191 0 86 2 0 0 0 0 0 2 1 0.994212 9 375 0 85 2 -2.741956 1 1 0 0 1 0 0 0 2.042792 0 0.670000 1.880000 0.665518 0.060000 2.000000e-02 0.130000 0.070000 0.075800 0.060000 0 4.000000e-02 1.000000e-01 CGRRF1 10668 broad.mit.edu 37 14 55004518 55004518 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:55004518T>G ENST00000216420.7 + 5 781 c.649T>G c.(649-651)Ttg>Gtg p.L217V CGRRF1_ENST00000557512.1_3'UTR NM_006568.2 NP_006559.1 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 13 ATATTTACTCTTGGCTCAAGG 0.338000 0 SO:0001583 missense ENST00000216420.7 1 1 hg19 CCDS9719.1 . . . . . . . . . . T 10.820000 1.458727 0.262480 . . ENSG00000100532 ENST00000216420 T 0.26810 1.71 5.970000 3.040000 0.351030 . 0.203895 0.42053 D 0.000762 T 0.17789 0.0427 L 0.60455 1.87 0.270230 N 0.964424 B;B 0.31383 0.018;0.321 B;B 0.20577 0.015;0.03 T 0.21415 -1.0246 10 0.15499 T 0.54 -2.8113 5.177600 0.151430 0.1238:0.6109:0.0:0.2653 . 217;217 B2RCX4;Q99675 .;CGRF1_HUMAN V 217 ENSP00000216420:L217V ENSP00000216420:L217V L + 1 2 CGRRF1 54074268 1.000000 0.71417 9.980000e-01 0.565050 9.920000e-01 0.810270 2.293000 0.43558 0.336000 0.236390 0.477000 0.441520 TTG TCGA-FB-AAQ0-01A-31D-A40W-08 CGRRF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276905.2 1 0 1 102 260 0 85 1 9.988906e-01 8 21 0 85 2 0 0 0 0 0 2 1 1.000000 102 260 0 85 2 -20.000000 1 1 0 0 1 0 0 0 2.042792 0 0.670000 1.880000 0.665518 0.820000 6.900000e-01 0.960000 0.830000 0.831958 0.820000 0 7.500000e-01 9.000000e-01 DICER1 23405 broad.mit.edu 37 14 95572489 95572489 + Missense_Mutation SNP T T A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr14:95572489T>A ENST00000526495.1 - 20 3167 c.2876A>T c.(2875-2877)aAa>aTa p.K959I DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) GGAAGGAAATTTACTGAGTGG 0.373000 Mis F, N sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome yes Rec yes Familial Pleuropulmonary Blastoma 14 14q32.13 23405 dicer 1, ribonuclease type III E, M, O 0 SO:0001583 missense Familial Cancer Database Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial ENST00000526495.1 1 1 hg19 CCDS9931.1 . . . . . . . . . . T 23.500000 4.418738 0.835590 . . ENSG00000100697 ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352 T;T;T;T;T 0.15487 2.42;2.42;2.42;2.42;2.42 5.690000 4.520000 0.553950 Argonaute/Dicer protein, PAZ (4); 0.043854 0.85682 D 0.000000 T 0.22399 0.0540 L 0.31371 0.925 0.807220 D 1.000000 P 0.41748 0.761 P 0.51487 0.671 T 0.01205 -1.1419 10 0.48119 T 0.1 -20.6741 12.864800 0.579340 0.0:0.0:0.1361:0.8639 . 959 Q9UPY3 DICER_HUMAN I 959 ENSP00000343745:K959I;ENSP00000437256:K959I;ENSP00000376783:K959I;ENSP00000435681:K959I;ENSP00000444719:K959I ENSP00000343745:K959I K - 2 0 DICER1 94642242 1.000000 0.71417 1 0.803570 9.980000e-01 0.957120 6.241000 0.72369 0.952000 0.377980 0.533000 0.621200 AAA TCGA-FB-AAQ0-01A-31D-A40W-08 DICER1-004 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000387997.1 1 0 0 24 455 0 84 0 7.748827e-02 0 9 0 84 2 0 0 0 0 0 2 1 1.000000 24 451 0 84 2 -19.999990 1 1 0 0 1 0 0 0 2.042792 0 0.670000 1.880000 0.665518 0.140000 9.000000e-02 0.210000 0.150000 0.152911 0.140000 0 1.100000e-01 1.800000e-01 MKRN3 7681 broad.mit.edu 37 15 23811532 23811532 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:23811532G>A ENST00000314520.3 + 1 1079 c.603G>A c.(601-603)gcG>gcA p.A201A RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) AAAGCTGGGCGGATGCCATTG 0.592000 0 SO:0001819 synonymous_variant ENST00000314520.3 1 1 hg19 CCDS10013.1 TCGA-FB-AAQ0-01A-31D-A40W-08 MKRN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251225.1 1 0 1 54 87 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 1.000000 52 85 0 26 2 -20.000000 1 1 0 0 1 0.670000 1.880000 0 0 RASGRF1 5923 broad.mit.edu 37 15 79323771 79323771 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:79323771G>A ENST00000419573.3 - 8 1507 c.1233C>T c.(1231-1233)taC>taT p.Y411Y RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 71 TGGACTTGGCGTAGTCCAGGC 0.637000 0 SO:0001819 synonymous_variant ENST00000419573.3 0 1 hg19 CCDS10309.1 TCGA-FB-AAQ0-01A-31D-A40W-08 RASGRF1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000291371.3 0 0 1 7 52 1 14 0 0 0 1 14 2 0 0 0 0 0 2 0 0.094764 7 51 1 13 13 -13.224300 1 1 121406 5 34 1 0 1 1 1.815200 1 0.670000 1.880000 0.605192 0.300000 1.400000e-01 0.540000 0.290000 0.323665 0.300000 0 2.100000e-01 4.200000e-01 IGF1R 3480 broad.mit.edu 37 15 99482481 99482481 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr15:99482481G>A ENST00000268035.6 + 18 3960 c.3349G>A c.(3349-3351)Gga>Aga p.G1117R IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) """Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)" TCAGATGGCCGGAGAGATTGC 0.438000 0 SO:0001583 missense ENST00000268035.6 0 1 hg19 CCDS10378.1 . . . . . . . . . . G 33.000000 5.261478 0.953680 . . ENSG00000140443 ENST00000268035 D 0.88201 -2.35 5.900000 5.900000 0.949860 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.56097 D 0.000027 D 0.85146 0.5630 N 0.00742 -1.23 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.99 D 0.91434 0.5168 10 0.59425 D 0.04 . 20.282200 0.985200 0.0:0.0:1.0:0.0 . 1116;1117 C9J5X1;P08069 .;IGF1R_HUMAN R 1117 ENSP00000268035:G1117R ENSP00000268035:G1117R G + 1 0 IGF1R 97300004 1.000000 0.71417 2.400000e-01 0.241380 9.860000e-01 0.746190 9.869000 0.99810 2.806000 0.965610 0.655000 0.942530 GGA TCGA-FB-AAQ0-01A-31D-A40W-08 IGF1R-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000313537.2 0 0 0 8 431 0 91 0 4.881664e-02 0 17 0 91 2 0 0 0 0 0 2 1 0.989107 9 428 0 91 2 -2.271178 0 1 121412 2 32 1 0 1 1 1.815200 1 0.670000 1.880000 0.605192 0.040000 1.000000e-02 0.090000 0.050000 0.050857 0.040000 0 2.000000e-02 7.000000e-02 MYH11 4629 broad.mit.edu 37 16 15841926 15841926 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:15841926C>T ENST00000300036.5 - 17 2267 c.2158G>A c.(2158-2160)Gtc>Atc p.V720I MYH11_ENST00000576790.2_Missense_Mutation_p.V720I|MYH11_ENST00000452625.2_Missense_Mutation_p.V727I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 123 TCCTGGAAGACGATCCGGTTG 0.647000 T CBFB AML Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 SO:0001583 missense ENST00000300036.5 1 1 hg19 CCDS10565.1 . . . . . . . . . . C 14.020000 2.410585 0.427150 . . ENSG00000133392 ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625 T;T;T;T 0.71579 -0.58;-0.58;-0.58;-0.58 4.820000 4.820000 0.621170 Myosin head, motor domain (2); 0.147580 0.44902 D 0.000402 T 0.61110 0.2321 N 0.26162 0.8 0.807220 D 1.000000 B;B;B;B;B 0.13594 0.008;0.008;0.001;0.008;0.001 B;B;B;B;B 0.17098 0.017;0.01;0.017;0.01;0.01 T 0.59532 -0.7437 10 0.54805 T 0.06 . 16.918000 0.861560 0.0:1.0:0.0:0.0 . 727;720;727;720;727 B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0 .;MYH11_HUMAN;.;.;. I 720;720;727;727;727 ENSP00000300036:V720I;ENSP00000345136:V720I;ENSP00000379616:V727I;ENSP00000407821:V727I ENSP00000300036:V720I V - 1 0 MYH11 15749427 1.000000 0.71417 9.990000e-01 0.593770 9.290000e-01 0.565000 4.955000 0.63638 2.224000 0.724170 0.561000 0.740990 GTC TCGA-FB-AAQ0-01A-31D-A40W-08 MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252192.2 1 0 1 61 293 0 61 0 9.794834e-01 0 32 0 61 2 0 0 0 0 0 2 1 1.000000 60 288 0 59 2 -3.365605 1 1 121412 1 34 1 1 2 3 2.188268 1 0.670000 1.880000 0.689748 0.550000 4.300000e-01 1.000000 0.550000 0.617380 0.550000 0 4.800000e-01 6.900000e-01 IL4R 3566 broad.mit.edu 37 16 27356274 27356274 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:27356274C>A ENST00000395762.2 + 5 553 c.294C>A c.(292-294)aaC>aaA p.N98K IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 33 GTGCGGATAACTATACACTGG 0.642000 0 SO:0001583 missense ENST00000395762.2 1 1 hg19 CCDS10629.1 . . . . . . . . . . c 9.462000 1.093474 0.204710 . . ENSG00000077238 ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630 T;T;T;T;T 0.21361 2.01;2.01;2.01;2.01;2.01 3.400000 -1.070000 0.099680 Interleukin-4 receptor alpha chain, N-terminal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1); 2.766520 0.01326 N 0.011099 T 0.09024 0.0223 N 0.22421 0.69 0.093100 N 1.000000 B;P;B 0.40578 0.346;0.722;0.298 B;B;B 0.30316 0.05;0.114;0.029 T 0.15752 -1.0426 10 0.06494 T 0.89 . 2.245900 0.040310 0.1909:0.3504:0.3448:0.1138 . 83;98;98 B4E076;P24394;P24394-2 .;IL4RA_HUMAN;. K 98;98;98;98;83;98 ENSP00000410322:N98K;ENSP00000379111:N98K;ENSP00000441667:N98K;ENSP00000370309:N83K;ENSP00000170630:N98K ENSP00000170630:N98K N + 3 2 IL4R 27263775 0.006000 0.16342 0 0.037020 2.100000e-02 0.103590 0.000000 0.12993 -0.159000 0.110210 -0.642000 0.039640 AAC TCGA-FB-AAQ0-01A-31D-A40W-08 IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214104.4 1 0 1 110 328 0 87 1 9.952377e-01 13 14 0 87 2 0 0 0 0 0 2 1 1.000000 109 325 0 84 2 -20.000000 1 1 0 0 1 1 2 3 2.188268 1 0.670000 1.880000 0.689748 0.800000 6.700000e-01 1.000000 0.790000 0.829195 0.800000 0 7.300000e-01 9.400000e-01 AMFR 267 broad.mit.edu 37 16 56423115 56423115 + Missense_Mutation SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:56423115G>C ENST00000290649.5 - 9 1468 c.1258C>G c.(1258-1260)Cac>Gac p.H420D NM_001144.5 NP_001135.3 Q9UKV5 AMFR_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 17 TGGAAGAAGTGATTGTGTTGG 0.423000 Pancreas(2;144 323 39528) 0 SO:0001583 missense ENST00000290649.5 1 1 hg19 CCDS10758.1 . . . . . . . . . . G 26.400000 4.738582 0.895730 . . ENSG00000159461 ENST00000290649 T 0.16897 2.31 5.920000 5.920000 0.955900 . 0.000000 0.85682 D 0.000000 T 0.43211 0.1237 M 0.77103 2.36 0.807220 D 1.000000 D 0.59767 0.986 P 0.59487 0.858 T 0.21109 -1.0255 10 0.59425 D 0.04 -30.074 20.330000 0.987130 0.0:0.0:1.0:0.0 . 420 Q9UKV5 AMFR2_HUMAN D 420 ENSP00000290649:H420D ENSP00000290649:H420D H - 1 0 AMFR 54980616 1.000000 0.71417 1 0.803570 9.980000e-01 0.957120 9.835000 0.99442 2.810000 0.967020 0.585000 0.799380 CAC TCGA-FB-AAQ0-01A-31D-A40W-08 AMFR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256978.2 0 0 0 16 464 0 82 1 7.803655e-01 3 82 0 82 2 0 0 0 0 0 2 1 0.999927 16 457 0 80 2 -3.695287 1 0 0 0 1 2 2 4 2.251783 1 0.670000 1.880000 0.694558 0.110000 5.000000e-02 1.000000 0.110000 0.199308 0.110000 0 8.000000e-02 1.600000e-01 USP10 9100 broad.mit.edu 37 16 84806216 84806216 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr16:84806216G>A ENST00000219473.7 + 12 2181 c.2068G>A c.(2068-2070)Gtt>Att p.V690I USP10_ENST00000570191.1_Missense_Mutation_p.V694I NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 17 GAAACGATTCGTTTATGAGAA 0.443000 0 SO:0001583 missense ENST00000219473.7 1 1 hg19 CCDS45537.1 . . . . . . . . . . G 10.450000 1.353656 0.245120 . . ENSG00000103194 ENST00000219473 T 0.30448 1.53 4.380000 4.380000 0.526670 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 0.000000 0.85682 D 0.000000 T 0.32406 0.0828 L 0.33293 1 0.807220 D 1.000000 D;P 0.57571 0.98;0.914 P;P 0.49683 0.572;0.619 T 0.03807 -1.1002 10 0.30854 T 0.27 -17.0169 16.296500 0.827760 0.0:0.0:1.0:0.0 . 694;690 Q14694-3;Q14694 .;UBP10_HUMAN I 690 ENSP00000219473:V690I ENSP00000219473:V690I V + 1 0 USP10 83363717 1.000000 0.71417 7.960000e-01 0.321090 3.350000e-01 0.287300 9.178000 0.94855 2.157000 0.675960 0.563000 0.778840 GTT TCGA-FB-AAQ0-01A-31D-A40W-08 USP10-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433660.1 0 0 1 166 434 1 130 1 9.999676e-01 19 38 1 130 4 0 0 0 0 0 2 1 1.000000 162 426 0 129 2 -20.000000 1 1 120858 2 33 1 1 2 3 2.201369 1 0.670000 1.880000 0.689748 0.880000 7.600000e-01 1.000000 0.880000 0.897134 0.880000 1 8.200000e-01 1 ASPA 443 broad.mit.edu 37 17 3397713 3397713 + Missense_Mutation SNP A A G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:3397713A>G ENST00000263080.2 + 5 862 c.704A>G c.(703-705)gAa>gGa p.E235G ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 17 L-Aspartic Acid(DB00128) CCCCGGGATGAAAATGGAGAA 0.343000 0 SO:0001583 missense ENST00000263080.2 0 1 hg19 CCDS11028.1 . . . . . . . . . . a 13.260000 2.183230 0.385110 . . ENSG00000108381 ENST00000456349;ENST00000263080 D;D 0.97850 -4.57;-4.57 5.720000 3.440000 0.393840 . 0.570209 0.20924 N 0.083222 D 0.94434 0.8209 L 0.43646 1.37 0.807220 D 1.000000 B 0.17465 0.022 B 0.15484 0.013 D 0.89317 0.3637 10 0.38643 T 0.18 -6.3778 6.885600 0.241970 0.7727:0.1508:0.0765:0.0 . 235 P45381 ACY2_HUMAN G 235 ENSP00000409976:E235G;ENSP00000263080:E235G ENSP00000263080:E235G E + 2 0 ASPA 3344463 1.000000 0.71417 9.980000e-01 0.565050 7.290000e-01 0.417350 1.983000 0.40648 0.493000 0.278370 0.528000 0.532280 GAA TCGA-FB-AAQ0-01A-31D-A40W-08 ASPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207315.1 0 0 0 12 882 0 240 0 0 0 1 0 240 2 0 0 0 0 0 2 1 0.999036 11 871 0 235 2 -3.319207 1 1 0 0 1 0 1 1 1.593930 1 0.670000 1.880000 0.515952 0.020000 0 0.050000 0.030000 0.029465 0.020000 0 1.000000e-02 4.000000e-02 ACLY 47 broad.mit.edu 37 17 40030190 40030190 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:40030190G>A ENST00000352035.2 - 23 2646 c.2516C>T c.(2515-2517)tCg>tTg p.S839L ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase NTN1/ACLY(2) 28 Breast(137;0.000143) GGTCATGAACGAGGCAGGTTT 0.587000 Colon(64;807 1396 15971 30971) 0 SO:0001583 missense ENST00000352035.2 1 1 hg19 CCDS11412.1 . . . . . . . . . . G 33.000000 5.265036 0.953990 . . ENSG00000131473 ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896 T;T;T;T 0.22539 1.95;1.95;1.95;1.95 5.760000 5.760000 0.907990 Citrate synthase-like, core (1); 0.000000 0.85682 D 0.000000 T 0.48114 0.1482 M 0.73217 2.22 0.807220 D 1.000000 D;D;D;D;D 0.89917 0.999;1.0;1.0;1.0;0.999 D;D;D;D;D 0.80764 0.978;0.959;0.994;0.994;0.978 T 0.19321 -1.0309 10 0.35671 T 0.21 . 19.973800 0.972960 0.0:0.0:1.0:0.0 . 568;883;893;829;839 B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396 .;.;.;.;ACLY_HUMAN L 839;893;829;568;829 ENSP00000253792:S839L;ENSP00000345398:S829L;ENSP00000445349:S568L;ENSP00000377474:S829L ENSP00000253792:S839L S - 2 0 ACLY 37283716 1.000000 0.71417 9.990000e-01 0.593770 9.300000e-01 0.566540 9.720000 0.98763 2.732000 0.935760 0.655000 0.942530 TCG TCGA-FB-AAQ0-01A-31D-A40W-08 ACLY-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257465.1 0 0 1 82 137 0 43 1 1 65 56 0 43 2 0 0 0 0 0 2 1 1.000000 82 134 0 42 2 -20.000000 1 1 121412 1 27 1 0 3 3 2.191771 1 0.670000 1.880000 0.682753 0.990000 9.600000e-01 1.000000 1.000000 0.998178 0.990000 1 9.900000e-01 1 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 T G T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr17:7578235T>G ENST00000269305.4 - 6 803 c.614A>C c.(613-615)tAt>tCt p.Y205S TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GTCATCCAAATACTCCACACG 0.542000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 117 Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . T 19.820000 3.897640 0.726390 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99868 -7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32 5.410000 4.330000 0.517520 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99843 0.9928 M 0.92738 3.34 0.584320 D 0.999999 P;D;P;P;D;P;P 0.58268 0.766;0.982;0.89;0.954;0.974;0.853;0.943 P;P;P;P;P;P;P 0.61940 0.714;0.829;0.681;0.781;0.896;0.781;0.623 D 0.97292 0.9925 10 0.87932 D 0 -5.8058 9.707000 0.402220 0.0:0.0827:0.0:0.9173 . 166;205;205;112;205;205;205 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. S 205;205;205;205;205;205;194;112;73;112;73 ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S ENSP00000269305:Y205S Y - 2 0 TP53 7518960 1.000000 0.71417 1.370000e-01 0.221490 4.500000e-02 0.141850 7.996000 0.88334 1.001000 0.390760 -0.256000 0.111000 TAT TCGA-FB-AAQ0-01A-31D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 74 83 0 38 1 9.999997e-01 23 9 0 38 2 1 1 438 521 0 1031 2 1 1.000000 74 83 0 38 2 -20.000000 1 1 0 0 1 0 1 1 1.580041 1 0.670000 1.880000 0.508709 0.920000 7.700000e-01 1.000000 1.000000 0.917715 0.920000 1 8.400000e-01 9.800000e-01 GNAL 2774 broad.mit.edu 37 18 11752449 11752449 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:11752449G>A ENST00000423027.3 + 1 338 c.17G>A c.(16-18)gGc>gAc p.G6D GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 12 TGTTTGGGCGGCAACAGCAAG 0.557000 0 SO:0001583 missense ENST00000423027.3 0 1 hg19 CCDS11852.1 . . . . . . . . . . G 25.100000 4.599844 0.870550 . . ENSG00000141404 ENST00000535121;ENST00000269162;ENST00000423027 D;D;D 0.88975 -2.45;-2.45;-2.45 4.040000 4.040000 0.470220 . . . . . D 0.90783 0.7106 L 0.34521 1.04 0.343580 D 0.690637 D 0.57257 0.979 D 0.69654 0.965 D 0.93188 0.6580 9 0.59425 D 0.04 . 15.628700 0.768850 0.0:0.0:1.0:0.0 . 6 P38405 GNAL_HUMAN D 6 ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D ENSP00000269162:G6D G + 2 0 GNAL 11742449 1.000000 0.71417 1 0.803570 9.870000e-01 0.754690 8.928000 0.92853 2.542000 0.857340 0.491000 0.489740 GGC TCGA-FB-AAQ0-01A-31D-A40W-08 GNAL-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254561.2 0 0 0 8 763 1 82 0 0 0 1 82 2 0 9.350291e-02 0 43 0 23 2 1 0.988760 8 752 0 81 2 -1.947449 0 1 0 0 1 0.670000 1.880000 0 0 NOL4 8715 broad.mit.edu 37 18 31538269 31538269 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr18:31538269G>A ENST00000261592.5 - 7 1467 c.1170C>T c.(1168-1170)gaC>gaT p.D390D NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D|NOL4_ENST00000535475.1_Silent_p.D235D NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 51 AATCGTCATGGTCCTCGTGGT 0.493000 0 SO:0001819 synonymous_variant ENST00000261592.5 1 1 hg19 CCDS11907.2 TCGA-FB-AAQ0-01A-31D-A40W-08 NOL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255386.1 0 0 0 23 476 0 161 0 0 0 0 161 2 0 0 0 0 0 2 1 0.999999 23 467 0 154 2 -4.413135 1 1 0 0 1 0 1 1 1.480870 1 0.670000 1.880000 0.508709 0.080000 5.000000e-02 0.130000 0.090000 0.095867 0.080000 0 7.000000e-02 1.100000e-01 TSHZ3 57616 broad.mit.edu 37 19 31769290 31769290 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:31769290A>C ENST00000240587.4 - 2 1736 c.1409T>G c.(1408-1410)gTc>gGc p.V470G NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 123 Esophageal squamous(110;0.226) TTCCTTCTTGACCTCCACATT 0.532000 0 SO:0001583 missense ENST00000240587.4 1 1 hg19 CCDS12421.2 . . . . . . . . . . A 10.780000 1.445905 0.259870 . . ENSG00000121297 ENST00000240587 T 0.38560 1.13 5.550000 5.550000 0.834470 . 0.238434 0.37669 N 0.001998 T 0.24005 0.0581 N 0.08118 0 0.584320 D 0.999998 P 0.36733 0.567 B 0.33521 0.165 T 0.10268 -1.0637 10 0.23891 T 0.37 -29.7855 15.717800 0.776810 1.0:0.0:0.0:0.0 . 470 Q63HK5 TSH3_HUMAN G 470 ENSP00000240587:V470G ENSP00000240587:V470G V - 2 0 TSHZ3 36461130 1.000000 0.71417 1 0.803570 9.380000e-01 0.579740 8.930000 0.92872 2.099000 0.637090 0.533000 0.621200 GTC TCGA-FB-AAQ0-01A-31D-A40W-08 TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316743.2 0 0 1 139 770 0 220 0 1.713684e-01 0 5 0 220 2 0 0 0 0 0 2 1 1.000000 139 761 0 213 2 -20.000000 1 1 0 0 1 0 1 1 2.069605 0 0.670000 1.880000 0.667774 0.440000 3.800000e-01 0.520000 0.450000 0.455412 0.440000 0 4.100000e-01 4.900000e-01 TSHZ3 57616 broad.mit.edu 37 19 31770055 31770055 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:31770055C>T ENST00000240587.4 - 2 971 c.644G>A c.(643-645)cGc>cAc p.R215H NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 123 Esophageal squamous(110;0.226) GTCCTTACAGCGGAACTTGCT 0.612000 0 SO:0001583 missense ENST00000240587.4 1 1 hg19 CCDS12421.2 . . . . . . . . . . C 22.100000 4.245903 0.800240 . . ENSG00000121297 ENST00000240587 T 0.15139 2.45 5.420000 5.420000 0.788660 Zinc finger, C2H2-like (1); 0.000000 0.85682 D 0.000000 T 0.34221 0.0890 L 0.37561 1.115 0.807220 D 1.000000 D 0.71674 0.998 D 0.80764 0.994 T 0.01858 -1.1259 10 0.42905 T 0.14 -25.4075 19.215100 0.937740 0.0:1.0:0.0:0.0 . 215 Q63HK5 TSH3_HUMAN H 215 ENSP00000240587:R215H ENSP00000240587:R215H R - 2 0 TSHZ3 36461895 1.000000 0.71417 1 0.803570 9.970000e-01 0.918780 7.484000 0.81180 2.509000 0.846160 0.655000 0.942530 CGC TCGA-FB-AAQ0-01A-31D-A40W-08 TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316743.2 0 0 0 24 509 0 118 0 0 0 0 118 2 0 0 0 0 0 2 1 1.000000 24 502 0 116 2 -4.487250 1 1 121412 3 38 1 0 1 1 2.069605 0 0.670000 1.880000 0.667774 0.130000 8.000000e-02 0.190000 0.140000 0.138423 0.130000 0 1.000000e-01 1.700000e-01 HAUS5 23354 broad.mit.edu 37 19 36104957 36104957 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:36104957C>G ENST00000203166.5 + 4 240 c.215C>G c.(214-216)cCa>cGa p.P72R HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R|AC002115.9_ENST00000589603.1_lincRNA NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 p.P72L(1) 16 CAGGACAGTCCACAGGTGAGA 0.537000 1 Substitution - Missense(1) SO:0001583 missense ENST00000203166.5 1 1 hg19 CCDS42550.1 . . . . . . . . . . C 19.760000 3.886990 0.724100 . . ENSG00000249115 ENST00000203166;ENST00000379045 T;T 0.29917 1.55;1.55 4.980000 4.980000 0.660770 . 0.281001 0.35407 N 0.003229 T 0.32406 0.0828 N 0.08118 0 0.354600 D 0.796479 D 0.67145 0.996 D 0.67382 0.951 T 0.43893 -0.9363 10 0.39692 T 0.17 -11.1042 13.633000 0.622060 0.0:1.0:0.0:0.0 . 72 O94927 HAUS5_HUMAN R 72 ENSP00000439056:P72R;ENSP00000444373:P72R ENSP00000439056:P72R P + 2 0 HAUS5 40796797 0.955000 0.32602 1 0.803570 8.070000e-01 0.456020 1.249000 0.32839 2.581000 0.871300 0.655000 0.942530 CCA TCGA-FB-AAQ0-01A-31D-A40W-08 HAUS5-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459055.2 1 0 0 24 307 1 67 0 2.099803e-01 0 21 1 67 3 0 0 0 0 0 2 1 1.000000 25 302 0 63 2 -3.017767 1 1 0 0 1 0 1 1 2.069605 0 0.670000 1.880000 0.667774 0.210000 1.300000e-01 0.310000 0.220000 0.222272 0.210000 0 1.700000e-01 2.600000e-01 ZNF420 147923 broad.mit.edu 37 19 37618172 37618172 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:37618172A>C ENST00000337995.3 + 5 494 c.279A>C c.(277-279)aaA>aaC p.K93N ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGAAGCCAAAGGCAAGATGG 0.368000 0 SO:0001583 missense ENST00000337995.3 1 1 hg19 CCDS12498.1 . . . . . . . . . . A 0.010000 -1.743139 0.006750 . . ENSG00000197050 ENST00000304239;ENST00000337995 T;T 0.07327 3.2;3.36 2.820000 -0.616000 0.115830 . . . . . T 0.03390 0.0098 N 0.11313 0.125 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.43637 -0.9379 9 0.33940 T 0.23 . 0.445600 0.004930 0.4223:0.2249:0.1343:0.2184 . 93 Q8TAQ5 ZN420_HUMAN N 93 ENSP00000306102:K93N;ENSP00000338770:K93N ENSP00000306102:K93N K + 3 2 ZNF420 42310012 . . 2.000000e-03 0.105220 1.200000e-02 0.079550 . . -0.232000 0.098110 -0.496000 0.046280 AAA TCGA-FB-AAQ0-01A-31D-A40W-08 ZNF420-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109587.3 0 0 0 9 278 0 56 0 3.829231e-03 0 3 0 56 2 0 0 0 0 0 2 1 0.994236 9 276 0 54 2 -3.514007 1 1 0 0 1 0 1 1 2.069605 0 0.670000 1.880000 0.667774 0.090000 4.000000e-02 0.170000 0.100000 0.102419 0.090000 0 6.000000e-02 1.300000e-01 EMP3 2014 broad.mit.edu 37 19 48833591 48833591 + Missense_Mutation SNP C C G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:48833591C>G ENST00000270221.6 + 5 657 c.356C>G c.(355-357)gCc>gGc p.A119G EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) TTGATCTATGCCATTCACGCC 0.607000 0 SO:0001583 missense ENST00000270221.6 1 1 hg19 CCDS12715.1 . . . . . . . . . . C 19.820000 3.898759 0.726390 . . ENSG00000142227 ENST00000270221 D 0.89123 -2.47 4.350000 3.310000 0.379340 . 0.115317 0.64402 D 0.000015 T 0.82010 0.4944 N 0.22421 0.69 0.389440 D 0.958205 B 0.30542 0.284 B 0.33568 0.166 T 0.82218 -0.0566 10 0.87932 D 0 . 11.387000 0.497910 0.0:0.9088:0.0:0.0912 . 119 P54852 EMP3_HUMAN G 119 ENSP00000270221:A119G ENSP00000270221:A119G A + 2 0 EMP3 53525403 0.987000 0.35691 9.930000e-01 0.491080 8.370000e-01 0.474670 4.846000 0.62860 1.168000 0.427230 0.561000 0.740990 GCC TCGA-FB-AAQ0-01A-31D-A40W-08 EMP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465613.1 0 0 1 170 359 0 93 1 1 161 231 0 93 2 0 0 0 0 0 2 1 1.000000 168 354 0 91 2 -20.000000 1 1 0 0 1 0 2 2 2.091684 0 0.670000 1.880000 0.670000 0.960000 8.300000e-01 1.000000 1.000000 0.953970 0.960000 1 8.900000e-01 1 SLC17A7 57030 broad.mit.edu 37 19 49935855 49935855 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:49935855G>T ENST00000221485.3 - 9 1242 c.1071C>A c.(1069-1071)atC>atA p.I357I SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) TCTGGCCGCCGATGGGCACGA 0.672000 0 SO:0001819 synonymous_variant ENST00000221485.3 0 1 hg19 CCDS12764.1 TCGA-FB-AAQ0-01A-31D-A40W-08 SLC17A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465367.2 0 0 0 5 107 0 25 0 0 0 0 25 2 0 0 0 0 0 2 1 0.931254 5 102 0 25 2 -8.225748 1 1 0 0 1 0 2 2 2.091684 0 0.670000 1.880000 0.670000 0.140000 5.000000e-02 1.000000 0.140000 0.210681 0.140000 0 9.000000e-02 2.400000e-01 LILRA3 11026 broad.mit.edu 37 19 54803682 54803682 + Silent SNP T T G TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:54803682T>G ENST00000251390.3 - 3 233 c.142A>C c.(142-144)Agg>Cgg p.R48R LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000391745.1_Silent_p.R65R NM_006865.3 NP_006856.3 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 28 Ovarian(34;0.19) CCCTGACACCTGAGGGTCACA 0.547000 0 SO:0001819 synonymous_variant ENST00000251390.3 1 1 hg19 CCDS12887.1 TCGA-FB-AAQ0-01A-31D-A40W-08 LILRA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140236.1 1 0 1 137 241 0 60 0 0 0 0 60 2 0 0 0 0 0 2 1 1.000000 136 238 0 58 2 -20.000000 1 1 0 0 1 0 2 2 2.091684 0 0.670000 1.880000 0.670000 0.990000 9.300000e-01 1.000000 1.000000 0.995599 0.990000 1 9.900000e-01 1 NLRP9 338321 broad.mit.edu 37 19 56244180 56244180 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:56244180C>T ENST00000332836.2 - 2 1044 c.1017G>A c.(1015-1017)acG>acA p.T339T NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 74 Colorectal(82;0.000133)|Ovarian(87;0.133) CCAACCAGCACGTAAAGGGAT 0.413000 0 SO:0001819 synonymous_variant ENST00000332836.2 1 1 hg19 CCDS12934.1 TCGA-FB-AAQ0-01A-31D-A40W-08 NLRP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453653.1 1 0 1 99 471 0 137 0 0 0 0 137 2 0 0 0 0 0 2 1 1.000000 99 469 0 133 2 -20.000000 1 1 0 0 1 1 2 3 2.089785 0 0.670000 1.880000 0.671102 0.510000 4.200000e-01 0.620000 0.520000 0.523165 0.510000 0 4.700000e-01 5.700000e-01 PEG3 5178 broad.mit.edu 37 19 57327998 57327998 + Silent SNP G G A rs143113379 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr19:57327998G>A ENST00000326441.9 - 10 2175 c.1812C>T c.(1810-1812)cgC>cgT p.R604R PEG3_ENST00000598410.1_Silent_p.R480R|PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) AGGTTTCCCCGCGCtcacgtt 0.463000 0 SO:0001819 synonymous_variant ENST00000326441.9 0 1 hg19 CCDS12948.1 TCGA-FB-AAQ0-01A-31D-A40W-08 PEG3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416099.2 0 0 0 7 183 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 0.979315 7 178 0 35 2 -3.106865 1 1 121410 4 38 1 1 2 3 2.089785 0 0.670000 1.880000 0.671102 0.110000 4.000000e-02 0.220000 0.110000 0.124476 0.110000 0 7.000000e-02 1.700000e-01 TNFRSF1B 7133 broad.mit.edu 37 1 12251922 12251922 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:12251922G>T ENST00000376259.3 + 4 488 c.399G>T c.(397-399)ggG>ggT p.G133G TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.G133G|MIR4632_ENST00000584158.1_RNA NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) Etanercept(DB00005) AGCAGGAGGGGTGCCGGCTGT 0.692000 0 SO:0001819 synonymous_variant ENST00000376259.3 1 1 hg19 CCDS145.1 TCGA-FB-AAQ0-01A-31D-A40W-08 TNFRSF1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005133.1 1 0 1 30 99 0 22 0 4.324413e-01 1 5 0 22 2 0 0 0 0 0 2 1 1.000000 30 97 0 22 2 -20.000000 1 1 0 0 1 0 1 1 1.903103 1 0.670000 1.880000 0.618938 0.590000 4.200000e-01 0.790000 0.590000 0.608832 0.590000 0 5.000000e-01 7.000000e-01 ADAMTSL4 54507 broad.mit.edu 37 1 150527952 150527952 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:150527952C>T ENST00000369038.2 + 6 1483 c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C Q6UY14 ATL4_HUMAN ADAMTS-like 4 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCGTGGCTTCCGCTTCTATGT 0.607000 0 SO:0001583 missense ENST00000369038.2 0 1 hg19 CCDS955.1 . . . . . . . . . . C 22.400000 4.291565 0.809140 . . ENSG00000143382 ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038 T;T;T;T 0.68765 3.82;3.82;-0.35;3.82 4.690000 4.690000 0.590740 . . . . . T 0.77631 0.4159 M 0.74647 2.275 0.807220 D 1.000000 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.998;1.0;0.997;0.999 T 0.80717 -0.1258 9 0.87932 D 0 . 15.163100 0.728010 0.0:1.0:0.0:0.0 . 451;451;428;428 B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2 .;.;ATL4_HUMAN;. C 428;428;451;428 ENSP00000358037:R428C;ENSP00000271643:R428C;ENSP00000358035:R451C;ENSP00000358034:R428C ENSP00000271643:R428C R + 1 0 ADAMTSL4 148794576 1.000000 0.71417 1 0.803570 9.940000e-01 0.842990 3.720000 0.54933 2.426000 0.822430 0.561000 0.740990 CGC TCGA-FB-AAQ0-01A-31D-A40W-08 ADAMTSL4-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084395.4 1 0 0 8 193 0 26 1 4.631670e-01 4 32 0 26 2 0 0 0 0 0 2 1 0.989152 8 190 0 26 2 -3.392392 1 1 0 0 1 1 2 3 2.497402 1 0.670000 1.880000 0.723688 0.160000 6.000000e-02 1.000000 0.140000 0.356559 0.160000 0 1.000000e-01 1 MEF2D 4209 broad.mit.edu 37 1 156437921 156437921 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:156437921G>A ENST00000348159.4 - 11 1898 c.1418C>T c.(1417-1419)cCa>cTa p.P473L MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCCCCGGCTGGGCTGCTGAG 0.706000 0 SO:0001583 missense ENST00000348159.4 1 1 hg19 CCDS1143.1 . . . . . . . . . . G 16.270000 3.075854 0.556460 . . ENSG00000116604 ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816 T;T;T;T;T;T 0.58652 0.32;0.33;0.33;0.72;0.33;0.32 3.830000 3.830000 0.441060 . 0.187490 0.42420 D 0.000707 T 0.27559 0.0677 N 0.08118 0 0.367200 D 0.881122 P;P;P 0.48911 0.917;0.791;0.867 B;B;P 0.47346 0.401;0.342;0.544 T 0.33240 -0.9876 10 0.66056 D 0.02 -9.2416 8.854300 0.352190 0.0:0.0:0.6507:0.3493 . 478;473;466 Q4LE66;Q14814;Q14814-4 .;MEF2D_HUMAN;. L 473;472;466;427;466;465 ENSP00000271555:P473L;ENSP00000343159:P472L;ENSP00000357223:P466L;ENSP00000344705:P427L;ENSP00000353803:P466L;ENSP00000388505:P465L ENSP00000343159:P472L P - 2 0 MEF2D 154704545 0.999000 0.42202 8.990000e-01 0.353260 8.450000e-01 0.480190 2.975000 0.49281 1.979000 0.576800 0.313000 0.208870 CCA TCGA-FB-AAQ0-01A-31D-A40W-08 MEF2D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080562.2 1 0 0 18 387 0 60 1 7.052322e-01 4 50 0 60 2 0 0 0 0 0 2 1 0.999978 17 376 0 60 2 -3.225353 1 1 0 0 1 1 2 3 2.497402 1 0.670000 1.880000 0.723688 0.170000 9.000000e-02 1.000000 0.160000 0.363063 0.170000 0 1.200000e-01 1 LHX9 56956 broad.mit.edu 37 1 197889248 197889248 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:197889248C>T ENST00000367387.4 + 2 746 c.321C>T c.(319-321)tcC>tcT p.S107S LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S NM_020204.2 NP_064589.2 Q9NQ69 LHX9_HUMAN LIM homeobox 9 p.S107S(1)|p.S98S(1) 35 CCCTCGAGTCCGAGCTCACCT 0.557000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000367387.4 0 1 hg19 CCDS1393.1 TCGA-FB-AAQ0-01A-31D-A40W-08 LHX9-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086547.2 0 0 0 14 1358 0 264 0 0 0 0 264 2 0 0 0 0 0 2 1 0.999719 13 1338 0 260 2 -1.845314 0 1 0 0 1 1 2 3 2.531334 1 0.670000 1.880000 0.725993 0.030000 0 1.000000 0.030000 0.259257 0.030000 0 1.000000e-02 1 WNT3A 89780 broad.mit.edu 37 1 228238515 228238515 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:228238515G>A ENST00000284523.1 + 3 550 c.472G>A c.(472-474)Gac>Aac p.D158N WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 12 Prostate(94;0.0405) CTGTAGCGAGGACATCGAGTT 0.657000 0 SO:0001583 missense ENST00000284523.1 1 1 hg19 CCDS1564.1 . . . . . . . . . . G 10.010000 1.233798 0.226260 . . ENSG00000154342 ENST00000284523;ENST00000366753 T;T 0.73469 -0.75;-0.75 4.780000 3.850000 0.443700 . 0.056503 0.64402 D 0.000002 T 0.60261 0.2255 N 0.12853 0.265 0.807220 D 1.000000 B;B 0.21309 0.054;0.034 B;B 0.37833 0.259;0.084 T 0.51779 -0.8662 10 0.02654 T 1 . 14.934100 0.709380 0.0:0.144:0.856:0.0 . 158;158 P56704;Q3SY79 WNT3A_HUMAN;. N 158 ENSP00000284523:D158N;ENSP00000355715:D158N ENSP00000284523:D158N D + 1 0 WNT3A 226305138 1.000000 0.71417 1 0.803570 8.840000e-01 0.511770 7.927000 0.87577 1.010000 0.393140 0.591000 0.815410 GAC TCGA-FB-AAQ0-01A-31D-A40W-08 WNT3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091648.1 1 0 0 18 285 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 0.999983 18 282 0 45 2 -19.925030 1 1 0 0 1 1 2 3 2.531334 1 0.670000 1.880000 0.725993 0.230000 1.300000e-01 1.000000 0.210000 0.402447 0.230000 0 1.700000e-01 1 HIST3H3 8290 broad.mit.edu 37 1 228612733 228612733 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:228612733C>A ENST00000366696.1 - 1 293 c.294G>T c.(292-294)gaG>gaT p.E98D NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 6 Prostate(94;0.0724) CCAGGTAAGACTCGCACGCCT 0.602000 0 SO:0001583 missense ENST00000366696.1 1 1 hg19 CCDS1572.1 . . . . . . . . . . c 11.280000 1.592525 0.283570 . . ENSG00000168148 ENST00000366696 T 0.78595 -1.19 3.890000 2.980000 0.345080 Histone-fold (2);Histone core (1); 0.000000 0.40064 N 0.001184 D 0.91808 0.7408 H 0.99972 5.13 0.349840 D 0.754365 P 0.48911 0.917 P 0.53988 0.739 D 0.94532 0.7737 10 0.87932 D 0 . 10.008900 0.419750 0.0:0.8982:0.0:0.1017 . 98 Q16695 H31T_HUMAN D 98 ENSP00000355657:E98D ENSP00000355657:E98D E - 3 2 HIST3H3 226679356 1.000000 0.71417 9.750000e-01 0.424870 5.000000e-03 0.049000 2.261000 0.43276 1.202000 0.432180 -0.162000 0.134250 GAG TCGA-FB-AAQ0-01A-31D-A40W-08 HIST3H3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096595.2 1 0 0 26 446 0 67 0 9.624394e-03 1 2 0 67 2 0 0 0 0 0 2 1 1.000000 26 439 0 64 2 -20.000000 1 1 0 0 1 1 2 3 2.531334 1 0.670000 1.880000 0.725993 0.210000 1.300000e-01 1.000000 0.200000 0.387778 0.210000 0 1.600000e-01 1 PLD5 200150 broad.mit.edu 37 1 242271086 242271086 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:242271086C>T ENST00000536534.2 - 8 1367 c.1126G>A c.(1126-1128)Gtt>Att p.V376I PLD5_ENST00000427495.1_Missense_Mutation_p.V314I|PLD5_ENST00000442594.2_Missense_Mutation_p.V284I Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CGAACTCTAACGCTTCGTAAA 0.358000 0 SO:0001583 missense ENST00000536534.2 1 1 hg19 CCDS1621.2 . . . . . . . . . . C 13.750000 2.329054 0.411970 . . ENSG00000180287 ENST00000427495;ENST00000442594;ENST00000536534 T;T;T 0.38240 1.15;1.15;1.15 5.380000 5.380000 0.774910 Phospholipase D/viral envelope (1); 0.067526 0.64402 D 0.000014 T 0.24851 0.0603 L 0.33245 0.995 0.476590 D 0.999489 B;B;B 0.29115 0.108;0.233;0.108 B;B;B 0.20384 0.014;0.029;0.009 T 0.06552 -1.0820 10 0.42905 T 0.14 -16.1879 8.703000 0.343380 0.0:0.8646:0.0:0.1354 . 284;376;314 Q8N7P1-2;Q8N7P1;Q8N7P1-4 .;PLD5_HUMAN;. I 314;284;376 ENSP00000401285:V314I;ENSP00000414188:V284I;ENSP00000440896:V376I ENSP00000401285:V314I V - 1 0 PLD5 240337709 0.962000 0.33011 9.950000e-01 0.509660 9.920000e-01 0.810270 2.078000 0.41567 2.497000 0.842410 0.643000 0.837060 GTT TCGA-FB-AAQ0-01A-31D-A40W-08 PLD5-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397213.2 1 0 1 151 444 0 106 0 0 0 1 0 106 2 0 0 0 0 0 2 1 1.000000 148 442 0 103 2 -20.000000 1 1 121410 1 36 1 1 2 3 2.444263 1 0.670000 1.880000 0.717345 0.900000 7.600000e-01 1.000000 0.880000 0.913425 0.900000 1 8.300000e-01 1 INADL 10207 broad.mit.edu 37 1 62455974 62455974 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:62455974A>C ENST00000371158.2 + 28 3919 c.3805A>C c.(3805-3807)Att>Ctt p.I1269L INADL_ENST00000316485.6_Missense_Mutation_p.I1269L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.I53L NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 103 TGTGGTGGGAATTAACCCGGA 0.428000 0 SO:0001583 missense ENST00000371158.2 1 1 hg19 CCDS617.2 . . . . . . . . . . A 21.600000 4.175730 0.785640 . . ENSG00000132849 ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708 T;T;T;T 0.45668 0.89;0.89;0.89;0.89 5.840000 5.840000 0.934240 PDZ/DHR/GLGF (4); 0.078603 0.51477 D 0.000096 T 0.61664 0.2365 L 0.56396 1.775 0.807220 D 1.000000 B;P;D;D;D 0.57571 0.028;0.911;0.966;0.973;0.98 P;D;D;D;D 0.81914 0.592;0.986;0.991;0.995;0.995 T 0.61028 -0.7145 10 0.48119 T 0.1 . 16.230200 0.823320 1.0:0.0:0.0:0.0 . 53;728;1269;1269;1269 B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4 .;.;.;INADL_HUMAN;. L 1269;1269;1269;1269;53;53 ENSP00000360200:I1269L;ENSP00000326199:I1269L;ENSP00000307496:I53L;ENSP00000445790:I53L ENSP00000307496:I53L I + 1 0 INADL 62228562 1.000000 0.71417 1 0.803570 9.070000e-01 0.535730 6.256000 0.72473 2.228000 0.727670 0.533000 0.621200 ATT TCGA-FB-AAQ0-01A-31D-A40W-08 INADL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023639.2 1 0 0 15 268 0 76 1 5.467428e-01 2 31 0 76 2 0 0 0 0 0 2 1 0.999877 15 266 0 74 2 -17.526150 1 1 0 0 1 0 1 1 1.853324 1 0.670000 1.880000 0.615966 0.130000 7.000000e-02 0.210000 0.140000 0.143688 0.130000 0 1.000000e-01 1.800000e-01 CLCA1 1179 broad.mit.edu 37 1 86961301 86961301 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr1:86961301C>T ENST00000234701.3 + 13 2407 c.2056C>T c.(2056-2058)Cgg>Tgg p.R686W CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W A8K7I4 CLCA1_HUMAN chloride channel accessory 1 38 Lung NSC(277;0.239) CGCAGCCAGACGGAGAGTGAT 0.453000 0 SO:0001583 missense ENST00000234701.3 1 1 hg19 CCDS709.1 . . . . . . . . . . C 12.510000 1.959770 0.345650 0.0 2.33E-4 ENSG00000016490 ENST00000234701;ENST00000394711 T;T 0.03152 4.03;4.03 5.690000 3.760000 0.432080 . 0.549745 0.17770 N 0.162617 T 0.01523 0.0049 L 0.31926 0.97 0.093100 N 1.000000 B 0.14012 0.009 B 0.13407 0.009 T 0.43360 -0.9396 10 0.44086 T 0.13 -0.0463 16.122200 0.813650 0.0:0.747:0.253:0.0 . 686 A8K7I4 CLCA1_HUMAN W 686 ENSP00000234701:R686W;ENSP00000378200:R686W ENSP00000234701:R686W R + 1 2 CLCA1 86733889 0.000000 0.05858 2.000000e-03 0.105220 5.000000e-03 0.049000 0.487000 0.22356 0.816000 0.344210 -0.175000 0.132380 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000028277.1 1 0 1 47 147 0 43 0 8.236657e-01 0 12 0 43 2 0 0 0 0 0 2 1 1.000000 46 147 0 42 2 -20.000000 1 1 121412 11 38 1 0 1 1 1.853324 1 0.670000 1.880000 0.615966 0.610000 4.700000e-01 0.770000 0.620000 0.626173 0.610000 0 5.400000e-01 7.000000e-01 GART 2618 broad.mit.edu 37 21 34878358 34878358 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr21:34878358G>A ENST00000381831.3 - 19 2769 c.2506C>T c.(2506-2508)Caa>Taa p.Q836* GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836* NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 31 Pemetrexed(DB00642) ATATCAATTTGTGCAGAGCTA 0.418000 0 SO:0001587 stop_gained ENST00000381831.3 0 1 hg19 CCDS13627.1 . . . . . . . . . . G 35.000000 5.492713 0.963390 . . ENSG00000159131 ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717 . . . 6.170000 1.050000 0.201650 . 0.719210 0.14613 N 0.308899 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.44086 T 0.13 -0.0033 11.630400 0.511710 0.1168:0.5242:0.359:0.0 . . . . X 100;836;836;836;388 . ENSP00000371236:Q836X Q - 1 0 GART 33800228 0.634000 0.27190 2.000000e-03 0.105220 4.130000e-01 0.311430 1.309000 0.33539 -0.070000 0.129080 -0.150000 0.136520 CAA TCGA-FB-AAQ0-01A-31D-A40W-08 GART-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140626.3 0 0 0 6 388 1 120 0 4.296804e-02 0 67 1 120 4 0 0 0 0 0 2 0 0.073541 6 380 1 120 13 -4.627458 1 1 0 0 1 0 1 1 1.809860 1 0.670000 1.880000 0.615966 0.030000 0 0.080000 0.040000 0.045276 0.030000 0 2.000000e-02 6.000000e-02 PCBP3 54039 broad.mit.edu 37 21 47355186 47355186 + Silent SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr21:47355186G>A ENST00000400314.1 + 14 1214 c.876G>A c.(874-876)ccG>ccA p.P292P PCBP3_ENST00000400304.1_Silent_p.P282P|PRED62_ENST00000593412.1_5'Flank|PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400310.1_Silent_p.P272P|PCBP3_ENST00000400308.1_Silent_p.P266P P57721 PCBP3_HUMAN poly(rC) binding protein 3 17 all_hematologic(128;0.24) CCAGCCCACCGGCCAGCACTC 0.582000 0 SO:0001819 synonymous_variant ENST00000400314.1 1 1 hg19 CCDS42974.2 TCGA-FB-AAQ0-01A-31D-A40W-08 PCBP3-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000206808.2 1 0 1 20 81 0 32 0 4.312920e-02 0 2 0 32 2 0 0 0 0 0 2 1 0.999997 20 79 0 32 2 -3.540453 1 1 121004 10 39 1 0 1 1 1.729511 1 0.670000 1.880000 0.590418 0.470000 3.100000e-01 0.670000 0.470000 0.487020 0.470000 0 3.800000e-01 5.800000e-01 NEB 4703 broad.mit.edu 37 2 152376273 152376273 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:152376273G>A ENST00000172853.10 - 126 17533 c.17386C>T c.(17386-17388)Cga>Tga p.R5796* NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000397345.3_Nonsense_Mutation_p.R7497* P20929 NEBU_HUMAN nebulin 301 AAATTTTCTCGGTATTTAACC 0.353000 0 SO:0001587 stop_gained ENST00000172853.10 0 1 hg19 . . . . . . . . . . G 58.000000 30.674372 0.999770 . . ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853 . . . 6.160000 6.160000 0.993070 . 0.109561 0.64402 D 0.000013 . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.07030 T 0.85 . 13.670800 0.624240 0.0:0.0:0.7491:0.2509 . . . . X 5796;7497;7497;1845;2227;5796 . ENSP00000172853:R5796X R - 1 2 NEB 152084519 1.000000 0.71417 1 0.803570 8.900000e-01 0.517540 3.539000 0.53604 2.937000 0.994780 0.650000 0.862430 CGA TCGA-FB-AAQ0-01A-31D-A40W-08 NEB-201 KNOWN basic protein_coding protein_coding 0 0 0 5 246 0 34 0 0 0 0 34 2 0 0 0 0 0 2 1 0.935505 5 243 0 34 2 -2.581310 1 1 120772 1 28 1 0 1 1 1.965343 1 0.670000 1.880000 0.635842 0.050000 1.000000e-02 0.120000 0.050000 0.063998 0.050000 0 3.000000e-02 9.000000e-02 TTN 7273 broad.mit.edu 37 2 179436797 179436797 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:179436797G>A ENST00000591111.1 - 276 69363 c.69139C>T c.(69139-69141)Cgt>Tgt p.R23047C TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|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.R15623C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24688C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|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) GCTGAAACACGGAAAGAGTAT 0.478000 0 SO:0001583 missense ENST00000591111.1 1 1 hg19 . . . . . . . . . . G 11.780000 1.740484 0.308650 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.60920 0.15;0.15;0.15;0.15 6.070000 5.180000 0.714440 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.82986 0.5156 H 0.94306 3.52 0.807220 D 1.000000 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 D 0.88470 0.3061 9 0.87932 D 0 . 16.988500 0.863470 0.0:0.0:0.8717:0.1283 . 15623;15748;15815;23047 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN C 22120;15623;15815;15748;15621 ENSP00000343764:R22120C;ENSP00000434586:R15623C;ENSP00000340554:R15815C;ENSP00000352154:R15748C ENSP00000340554:R15815C R - 1 0 TTN 179145043 1.000000 0.71417 1 0.803570 9.940000e-01 0.842990 5.586000 0.67503 1.556000 0.495120 0.650000 0.862430 CGT TCGA-FB-AAQ0-01A-31D-A40W-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 1 0 1 43 135 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 43 135 0 38 2 -3.917015 1 1 120856 1 23 1 0 1 1 1.965343 1 0.670000 1.880000 0.635842 0.650000 4.900000e-01 0.820000 0.650000 0.659121 0.650000 0 5.600000e-01 7.400000e-01 ABCA12 26154 broad.mit.edu 37 2 215891634 215891634 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:215891634C>T ENST00000272895.7 - 10 1309 c.1090G>A c.(1090-1092)Gcc>Acc p.A364T ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 139 Renal(323;0.127) TTTAAGAGGGCATCTTCAAAG 0.353000 Ovarian(66;664 1488 5121 34295) 0 SO:0001583 missense ENST00000272895.7 1 1 hg19 CCDS33372.1 . . . . . . . . . . C 11.550000 1.673387 0.296930 . . ENSG00000144452 ENST00000272895;ENST00000389661 T;T 0.47528 0.84;0.84 5.780000 2.970000 0.344120 . 0.691400 0.13955 N 0.351234 T 0.22898 0.0553 N 0.08118 0 0.807220 D 1.000000 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.05886 -1.0858 10 0.19590 T 0.45 . 5.212000 0.153220 0.1525:0.6287:0.0:0.2188 . 364;46 Q86UK0;Q86UK0-2 ABCAC_HUMAN;. T 364;46 ENSP00000272895:A364T;ENSP00000374312:A46T ENSP00000272895:A364T A - 1 0 ABCA12 215599879 0.993000 0.37304 9.620000e-01 0.402830 8.780000e-01 0.506290 0.882000 0.28186 0.766000 0.332440 0.655000 0.942530 GCC TCGA-FB-AAQ0-01A-31D-A40W-08 ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337111.1 0 0 1 139 532 1 163 0 0 0 1 163 2 0 0 0 0 0 2 1 1.000000 138 526 1 158 15 -20.000000 1 1 0 0 1 0 1 1 1.993592 1 0.670000 1.880000 0.637183 0.550000 4.700000e-01 0.640000 0.560000 0.564331 0.550000 0 5.100000e-01 6.100000e-01 KDM3A 55818 broad.mit.edu 37 2 86693827 86693827 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr2:86693827C>T ENST00000409556.1 + 11 1705 c.1340C>T c.(1339-1341)tCg>tTg p.S447L KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 47 CCTTCCCCATCGGATGTTTCA 0.448000 NSCLC(96;1150 1523 6936 46253 49736) 0 SO:0001583 missense ENST00000409556.1 1 1 hg19 CCDS1990.1 . . . . . . . . . . C 12.890000 2.073442 0.365660 . . ENSG00000115548 ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128 T;T;T;T 0.60548 0.18;0.18;0.18;0.18 5.650000 5.650000 0.869990 . 0.170906 0.41712 D 0.000825 T 0.42698 0.1214 L 0.27053 0.805 0.093100 N 0.999999 P;P 0.39696 0.683;0.555 B;B 0.29716 0.106;0.049 T 0.45323 -0.9269 10 0.41790 T 0.15 . 16.883400 0.860690 0.0:1.0:0.0:0.0 . 395;447 F5H070;Q9Y4C1 .;KDM3A_HUMAN L 447;447;447;447;395 ENSP00000386660:S447L;ENSP00000323659:S447L;ENSP00000386516:S447L;ENSP00000438324:S395L ENSP00000323659:S447L S + 2 0 KDM3A 86547338 0.450000 0.25697 2.500000e-02 0.171560 2.480000e-01 0.258090 3.021000 0.49651 2.663000 0.905440 0.563000 0.778840 TCG TCGA-FB-AAQ0-01A-31D-A40W-08 KDM3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252522.2 1 0 0 28 485 0 141 1 6.147601e-01 2 35 0 141 2 0 0 0 0 0 2 1 1.000000 28 480 0 137 2 -3.073959 1 1 121410 7 39 1 0 1 1 1.960098 0 0.670000 1.880000 0.638515 0.140000 9.000000e-02 0.210000 0.150000 0.153282 0.140000 0 1.100000e-01 1.800000e-01 MORC1 27136 broad.mit.edu 37 3 108746697 108746697 + Silent SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:108746697G>T ENST00000483760.1 - 17 1648 c.1605C>A c.(1603-1605)ggC>ggA p.G535G MORC1_ENST00000232603.5_Silent_p.G535G MORC family CW-type zinc finger 1 105 TGCTCATGGTGCCCAGTGGGA 0.398000 0 SO:0001819 synonymous_variant ENST00000483760.1 1 1 hg19 TCGA-FB-AAQ0-01A-31D-A40W-08 MORC1-002 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000353844.1 1 0 0 12 267 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 0.999115 12 264 0 42 2 -3.966566 1 1 121408 2 33 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.120000 6.000000e-02 0.210000 0.130000 0.133220 0.120000 0 9.000000e-02 1.700000e-01 ALG1L 200810 broad.mit.edu 37 3 125649457 125649457 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:125649457C>T ENST00000340333.3 - 5 454 c.291G>A c.(289-291)gtG>gtA p.V97V FAM86JP_ENST00000485843.1_RNA NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 4 CTTCATGTTTCACCAGCTCAT 0.597000 0 SO:0001819 synonymous_variant ENST00000340333.3 0 1 hg19 CCDS33840.1 TCGA-FB-AAQ0-01A-31D-A40W-08 ALG1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356347.1 1 0 0 14 197 0 59 0 6.381540e-02 0 6 0 59 2 0 0 0 0 0 2 1 0.999652 13 184 0 71 2 -17.744980 1 1 0 0 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.190000 1.000000e-01 0.300000 0.190000 0.202676 0.190000 0 1.400000e-01 2.500000e-01 CAND2 23066 broad.mit.edu 37 3 12869094 12869094 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:12869094C>T ENST00000456430.2 + 13 3407 c.3366C>T c.(3364-3366)taC>taT p.Y1122Y CAND2_ENST00000295989.5_Silent_p.Y1005Y NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 37 AGGACCACTACGACATCCGGG 0.562000 GBM(43;676 868 1633 6395 37496) 0 SO:0001819 synonymous_variant ENST00000456430.2 1 1 hg19 CCDS54554.1 TCGA-FB-AAQ0-01A-31D-A40W-08 CAND2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339856.4 1 0 1 70 240 0 52 0 0 0 0 52 2 0 0 1 0 0 0 2 1 1.000000 68 235 0 52 2 -20.000000 1 1 120938 2 35 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.640000 5.200000e-01 0.780000 0.650000 0.655444 0.640000 0 5.800000e-01 7.200000e-01 RPL32 6161 broad.mit.edu 37 3 12877678 12877678 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:12877678C>T ENST00000429711.2 - 4 422 c.323G>A c.(322-324)cGc>cAc p.R108H RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 6 GATGGCTTTGCGGTTCTTGGA 0.507000 0 SO:0001583 missense ENST00000429711.2 0 1 hg19 CCDS2614.1 . . . . . . . . . . C 22.700000 4.323886 0.815800 . . ENSG00000144713 ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131 . . . 5.410000 5.410000 0.785170 . 0.000000 0.85682 D 0.000000 T 0.65647 0.2711 L 0.58969 1.84 0.807220 D 1.000000 B 0.19817 0.039 B 0.22386 0.039 T 0.62553 -0.6830 9 0.48119 T 0.1 0.0875 17.040800 0.864890 0.0:1.0:0.0:0.0 . 108 P62910 RL32_HUMAN H 108;108;126;108;108;108 . ENSP00000339064:R126H R - 2 0 RPL32 12852678 1.000000 0.71417 1 0.803570 9.990000e-01 0.989320 5.916000 0.69981 2.684000 0.914620 0.655000 0.942530 CGC TCGA-FB-AAQ0-01A-31D-A40W-08 RPL32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252032.2 0 0 0 5 332 0 75 1 1 9 7668 0 75 2 0 0 0 0 0 2 1 0.934489 5 325 0 73 2 -2.435056 0 1 0 0 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.040000 0 0.100000 0.040000 0.050897 0.040000 0 2.000000e-02 7.000000e-02 CNBP 7555 broad.mit.edu 37 3 128889325 128889325 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:128889325G>A ENST00000422453.2 - 5 665 c.505C>T c.(505-507)Cgg>Tgg p.R169W CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W NM_001127192.1|NM_001127193.1|NM_003418.4 NP_001120664.1|NP_001120665.1|NP_003409.1 P62633 CNBP_HUMAN CCHC-type zinc finger, nucleic acid binding protein 5 GTGCATTCCCGTGCAAGGTGC 0.448000 0 SO:0001583 missense ENST00000422453.2 0 1 hg19 CCDS3056.1 . . . . . . . . . . G 18.200000 3.570676 0.657650 . . ENSG00000169714 ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626 . . . 6.080000 6.080000 0.989890 Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3); 0.128051 0.52532 D 0.000070 D 0.83589 0.5287 M 0.82823 2.61 0.584320 D 0.999993 D;D;D 0.76494 0.994;0.993;0.999 P;P;D 0.72338 0.837;0.821;0.977 D 0.84859 0.0818 9 0.87932 D 0 -16.7435 18.165900 0.897270 0.0:0.0:1.0:0.0 . 152;162;169 B4DP17;P62633-2;P62633 .;.;CNBP_HUMAN W 162;169;170;164;152;159;171 . ENSP00000410619:R169W R - 1 2 CNBP 130372015 1.000000 0.71417 1 0.803570 9.980000e-01 0.957120 6.578000 0.74032 2.894000 0.992530 0.591000 0.815410 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 CNBP-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000358419.1 0 0 0 6 760 0 152 1 9.533215e-01 4 693 0 152 2 0 0 0 0 0 2 1 0.964629 6 757 0 148 2 -2.347363 0 1 0 0 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.010000 0 0.050000 0.020000 0.025180 0.010000 0 0 4.000000e-02 TRIM42 287015 broad.mit.edu 37 3 140406735 140406735 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:140406735C>T ENST00000286349.3 + 3 1402 c.1211C>T c.(1210-1212)tCc>tTc p.S404F NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 69 CTAGAAGTGTCCAGGCAGAAG 0.433000 0 SO:0001583 missense ENST00000286349.3 1 1 hg19 CCDS3113.1 . . . . . . . . . . C 13.090000 2.134764 0.377280 . . ENSG00000155890 ENST00000286349 T 0.39229 1.09 5.330000 3.430000 0.392720 . 0.666605 0.14463 N 0.318026 T 0.19525 0.0469 N 0.08118 0 0.285550 N 0.911407 B 0.33379 0.41 B 0.28916 0.096 T 0.03784 -1.1004 10 0.56958 D 0.05 -11.2766 5.562800 0.171540 0.1968:0.7047:0.0:0.0985 . 404 Q8IWZ5 TRI42_HUMAN F 404 ENSP00000286349:S404F ENSP00000286349:S404F S + 2 0 TRIM42 141889425 0.985000 0.35326 1 0.803570 9.910000e-01 0.796840 1.214000 0.32419 2.676000 0.910930 0.555000 0.697020 TCC TCGA-FB-AAQ0-01A-31D-A40W-08 TRIM42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359531.2 1 0 1 89 221 0 67 0 0 0 0 67 2 1 1 165 357 0 326 2 1 1.000000 89 219 0 66 2 -7.121661 1 1 0 0 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.820000 6.800000e-01 0.970000 0.830000 0.830478 0.820000 0 7.500000e-01 9.000000e-01 DHX36 170506 broad.mit.edu 37 3 154018452 154018452 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr3:154018452C>T ENST00000496811.1 - 11 1472 c.1392G>A c.(1390-1392)atG>atA p.M464I DHX36_ENST00000308361.6_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000544526.1_Missense_Mutation_p.M464I NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CATCCTCCATCATTTCTATAA 0.313000 0 SO:0001583 missense ENST00000496811.1 1 1 hg19 CCDS3171.1 . . . . . . . . . . C 11.930000 1.785057 0.315930 . . ENSG00000174953 ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941 T;T;T;T;T 0.02158 4.42;4.42;4.42;4.42;4.42 5.750000 5.750000 0.904690 . 0.149837 0.85682 D 0.000000 T 0.02533 0.0077 L 0.31526 0.94 0.402690 D 0.978263 B;B;B 0.06786 0.001;0.001;0.0 B;B;B 0.12837 0.008;0.008;0.004 T 0.58364 -0.7649 10 0.21014 T 0.42 . 15.076900 0.720840 0.1418:0.8582:0.0:0.0 . 464;464;464 Q9H2U1-2;Q9H2U1-3;Q9H2U1 .;.;DHX36_HUMAN I 464;464;464;464;378 ENSP00000417078:M464I;ENSP00000309296:M464I;ENSP00000444247:M464I;ENSP00000330113:M464I;ENSP00000419862:M378I ENSP00000309296:M464I M - 3 0 DHX36 155501146 1.000000 0.71417 1 0.803570 9.660000e-01 0.646010 3.423000 0.52756 2.866000 0.983850 0.650000 0.862430 ATG TCGA-FB-AAQ0-01A-31D-A40W-08 DHX36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353349.1 1 0 0 29 348 0 95 0 3.323271e-01 1 14 0 95 2 0 0 0 0 0 2 1 1.000000 28 345 0 92 2 -3.318794 1 1 0 0 1 0 0 0 2.020690 0 0.670000 1.880000 0.658562 0.220000 1.400000e-01 0.310000 0.220000 0.228059 0.220000 0 1.800000e-01 2.700000e-01 TBC1D9 23158 broad.mit.edu 37 4 141543578 141543578 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:141543578C>T ENST00000442267.2 - 21 3646 c.3572G>A c.(3571-3573)cGg>cAg p.R1191Q NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTGGCCGCTCCGCACCAGGAC 0.662000 0 SO:0001583 missense ENST00000442267.2 0 1 hg19 CCDS47136.1 . . . . . . . . . . C 16.360000 3.101168 0.561830 . . ENSG00000109436 ENST00000442267 T 0.07908 3.15 5.010000 4.170000 0.490240 . 0.055070 0.85682 D 0.000000 T 0.03959 0.0111 N 0.12182 0.205 0.584320 D 0.999999 D 0.57257 0.979 B 0.36378 0.223 T 0.53380 -0.8447 10 0.13108 T 0.6 . 13.347400 0.605820 0.0:0.9239:0.0:0.0761 . 1191 Q6ZT07 TBCD9_HUMAN Q 1191 ENSP00000411197:R1191Q ENSP00000411197:R1191Q R - 2 0 TBC1D9 141763028 1.000000 0.71417 9.710000e-01 0.417170 9.560000e-01 0.617450 5.760000 0.68793 1.109000 0.416800 0.655000 0.942530 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 TBC1D9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364806.1 0 0 0 11 118 0 24 1 4.619758e-02 2 2 0 24 2 0 0 0 0 0 2 1 0.998441 11 116 0 24 2 -16.622210 1 1 121040 1 27 1 0 2 2 2.050351 1 0.670000 1.880000 0.670000 0.280000 1.400000e-01 1.000000 0.260000 0.409961 0.280000 0 2.000000e-01 1 GBA3 57733 broad.mit.edu 37 4 22737642 22737642 + RNA SNP G G T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:22737642G>T ENST00000503442.1 + 0 188 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) 33 TTGTGTCTGGGACACATTTAC 0.448000 0 ENST00000503442.1 0 1 hg19 TCGA-FB-AAQ0-01A-31D-A40W-08 GBA3-003 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000360620.2 0 0 0 76 138 0 41 0 0 0 0 41 2 0 0 0 0 0 2 1 1.000000 74 135 0 40 2 -20.000000 1 1 0 0 1 0 1 1 1.844112 1 0.670000 1.880000 0.631758 0.940000 7.700000e-01 1.000000 1.000000 0.935231 0.940000 1 8.500000e-01 1 GRID2 2895 broad.mit.edu 37 4 94376883 94376883 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr4:94376883G>A ENST00000282020.4 + 11 1874 c.1616G>A c.(1615-1617)cGt>cAt p.R539H GRID2_ENST00000510992.1_Missense_Mutation_p.R444H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) TTTACGACACGTTACATGGAC 0.443000 0 SO:0001583 missense ENST00000282020.4 0 1 hg19 CCDS3637.1 . . . . . . . . . . G 31.000000 5.086141 0.941000 . . ENSG00000152208 ENST00000282020;ENST00000510992 T;T 0.27402 1.67;1.67 5.970000 5.970000 0.969550 Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1); 0.000000 0.85682 D 0.000000 T 0.59851 0.2224 M 0.74881 2.28 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.59198 -0.7499 10 0.66056 D 0.02 . 20.438700 0.991070 0.0:0.0:1.0:0.0 . 444;539 E9PH24;O43424 .;GRID2_HUMAN H 539;444 ENSP00000282020:R539H;ENSP00000421257:R444H ENSP00000282020:R539H R + 2 0 GRID2 94595906 1.000000 0.71417 9.980000e-01 0.565050 9.950000e-01 0.863560 9.869000 0.99810 2.836000 0.977380 0.655000 0.942530 CGT TCGA-FB-AAQ0-01A-31D-A40W-08 GRID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253588.2 0 0 0 9 388 0 70 0 0 0 0 70 2 0 0 0 0 0 2 1 0.994343 10 387 0 69 2 -3.042159 1 1 121412 2 32 1 0 1 1 1.921047 1 0.670000 1.880000 0.630376 0.050000 2.000000e-02 0.110000 0.060000 0.066697 0.050000 0 4.000000e-02 9.000000e-02 PCDHB13 56123 broad.mit.edu 37 5 140594777 140594777 + Missense_Mutation SNP C C T rs148992616 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr5:140594777C>T ENST00000341948.4 + 1 1269 c.1082C>T c.(1081-1083)gCg>gTg p.A361V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 p.A361V(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGAGAACGCGCCTGAAACT 0.448000 1 Substitution - Missense(1) SO:0001583 missense ENST00000341948.4 1 1 hg19 CCDS4255.1 . . . . . . . . . . c 16.740000 3.206586 0.583430 . . ENSG00000187372 ENST00000341948;ENST00000430318;ENST00000419217 T 0.03663 3.85 3.500000 2.590000 0.310300 Cadherin (3);Cadherin-like (1); . . . . T 0.08447 0.0210 M 0.66506 2.035 0.093100 N 1.000000 P 0.48911 0.917 P 0.49252 0.604 T 0.15752 -1.0426 9 0.66056 D 0.02 . 8.138100 0.310670 0.0:0.7799:0.0:0.2201 . 361 Q9Y5F0 PCDBD_HUMAN V 361 ENSP00000345491:A361V ENSP00000345491:A361V A + 2 0 PCDHB13 140574961 0.000000 0.05858 0 0.037020 8.350000e-01 0.473330 1.135000 0.31454 0.550000 0.289910 0.298000 0.197480 GCG TCGA-FB-AAQ0-01A-31D-A40W-08 PCDHB13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251810.1 0 0 0 28 1032 0 243 0 2.421628e-02 0 9 0 243 2 0 0 0 0 0 2 1 1.000000 27 1020 0 240 2 -2.683679 1 1 0 0 1 1 2 3 2.163442 0 0.670000 1.880000 0.676502 0.070000 4.000000e-02 1.000000 0.080000 0.126166 0.070000 0 6.000000e-02 1.000000e-01 UTRN 7402 broad.mit.edu 37 6 144759999 144759999 + Missense_Mutation SNP A A C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:144759999A>C ENST00000367545.3 + 11 1360 c.1360A>C c.(1360-1362)Aaa>Caa p.K454Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 148 Ovarian(120;0.218) TGATGATGTAAAATCTCTACA 0.433000 0 SO:0001583 missense ENST00000367545.3 1 1 hg19 CCDS34547.1 . . . . . . . . . . A 3.826000 -0.036673 0.074970 . . ENSG00000152818 ENST00000367529;ENST00000367545 T 0.47869 0.83 5.410000 -8.380000 0.009730 . 1.903270 0.02816 N 0.124960 T 0.07143 0.0181 N 0.00926 -1.1 0.093100 N 0.999998 B 0.02656 0.0 B 0.11329 0.006 T 0.09487 -1.0672 10 0.26408 T 0.33 . 16.917000 0.861540 0.1863:0.6844:0.1293:0.0 . 454 P46939 UTRO_HUMAN Q 454 ENSP00000356515:K454Q ENSP00000356499:K454Q K + 1 0 UTRN 144801692 0.904000 0.30761 0 0.037020 0 0.004340 0.546000 0.23284 -1.159000 0.028070 -1.164000 0.017630 AAA TCGA-FB-AAQ0-01A-31D-A40W-08 UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042551.1 1 0 1 66 148 0 54 0 9.720089e-02 0 2 0 54 2 0 0 0 0 0 2 1 1.000000 65 146 0 53 2 -20.000000 1 1 0 0 1 0 0 0 1.833958 1 0.670000 1.880000 0.624744 0.800000 6.400000e-01 0.970000 0.810000 0.811570 0.800000 0 7.200000e-01 8.900000e-01 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) TGGTTTCGCCGCAAATGGCAA 0.433000 0 SO:0001583 missense ENST00000344419.3 0 1 hg19 CCDS5227.1 . . . . . . . . . . g 5.689000 0.311597 0.107890 2.27E-4 0.0 ENSG00000009765 ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615 T;T;T;T;T;T 0.76578 -1.03;-1.03;-1.03;-1.03;-1.03;-1.03 6.170000 2.100000 0.271820 Nitroreductase-like (3); 0.509560 0.22264 N 0.062376 T 0.43055 0.1230 L 0.46885 1.475 0.093100 N 1.000000 B;B;B;B 0.20261 0.004;0.043;0.001;0.002 B;B;B;B 0.18561 0.003;0.022;0.001;0.005 T 0.24548 -1.0157 10 0.27785 T 0.31 -23.7178 1.245200 0.019710 0.2372:0.2256:0.3896:0.1475 . 121;203;203;203 Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0 .;.;.;IYD1_HUMAN T 203;203;203;203;203;148 ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T ENSP00000229447:A203T A + 1 0 IYD 150757004 0.019000 0.18553 1.000000e-03 0.086480 1.740000e-01 0.228650 0.255000 0.18333 0.496000 0.279040 -0.119000 0.150520 GCA TCGA-FB-AAQ0-01A-31D-A40W-08 IYD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043754.3 0 0 0 6 440 0 126 0 2.662797e-03 0 5 0 126 2 0 0 0 0 0 2 1 0.963719 6 434 0 125 2 -1.972326 0 1 121412 3 38 1 0 0 0 1.833958 1 0.670000 1.880000 0.624744 0.030000 0 0.070000 0.040000 0.040920 0.030000 0 1.000000e-02 6.000000e-02 TIAM2 26230 broad.mit.edu 37 6 155575617 155575617 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:155575617C>T ENST00000461783.3 + 28 5651 c.4378C>T c.(4378-4380)Cgt>Tgt p.R1460C TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 65 Ovarian(120;0.196) GAACTTCAGGCGTCACATAAA 0.458000 0 SO:0001583 missense ENST00000461783.3 1 1 hg19 CCDS34558.1 . . . . . . . . . . C 23.300000 4.400918 0.831200 . . ENSG00000146426 ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246 T;T;T;T;T;T;T;T;T 0.13778 3.1;2.94;3.1;2.91;3.04;2.94;2.92;2.69;2.56 5.660000 4.770000 0.609230 . 0.051437 0.85682 D 0.000000 T 0.25382 0.0617 M 0.66939 2.045 0.547530 D 0.999982 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.999;0.997;0.994 T 0.03077 -1.1075 10 0.72032 D 0.01 . 14.045500 0.647020 0.151:0.849:0.0:0.0 . 796;1489;1484;1460 E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5 .;.;.;TIAM2_HUMAN C 1460;1706;1489;1460;836;1484;1489;772;796;385 ENSP00000437188:R1460C;ENSP00000407746:R1489C;ENSP00000327315:R1460C;ENSP00000356142:R836C;ENSP00000353528:R1484C;ENSP00000433348:R1489C;ENSP00000407183:R772C;ENSP00000435335:R796C;ENSP00000275246:R385C ENSP00000275246:R385C R + 1 0 TIAM2 155617309 1.000000 0.71417 9.970000e-01 0.539660 9.920000e-01 0.810270 4.413000 0.59795 1.342000 0.456190 0.650000 0.862430 CGT TCGA-FB-AAQ0-01A-31D-A40W-08 TIAM2-005 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding protein_coding OTTHUMT00000387980.2 1 0 0 81 226 0 76 0 1.747724e-01 0 3 0 76 2 0 0 0 0 0 2 1 1.000000 80 226 0 76 2 -5.666547 1 1 121412 4 38 1 0 0 0 1.833958 1 0.670000 1.880000 0.624744 0.680000 5.600000e-01 0.820000 0.690000 0.695263 0.680000 0 6.200000e-01 7.600000e-01 IGF2R 3482 broad.mit.edu 37 6 160517606 160517606 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:160517606C>T ENST00000356956.1 + 45 6939 c.6791C>T c.(6790-6792)gCc>gTc p.A2264V RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 95 Breast(66;0.000777)|Ovarian(120;0.0305) Mecasermin(DB01277) CACGAGACTGCCGACTGCCAG 0.537000 0 SO:0001583 missense ENST00000356956.1 0 1 hg19 CCDS5273.1 . . . . . . . . . . C 17.810000 3.481500 0.638490 . . ENSG00000197081 ENST00000356956 T 0.02103 4.45 5.690000 4.820000 0.621170 Mannose-6-phosphate receptor, binding (1); 0.169864 0.51477 D 0.000085 T 0.02571 0.0078 M 0.83692 2.655 0.352290 D 0.776725 P 0.43231 0.801 B 0.41036 0.346 T 0.48896 -0.8994 10 0.30078 T 0.28 -15.7351 16.128700 0.814120 0.1347:0.8653:0.0:0.0 . 2264 P11717 MPRI_HUMAN V 2264 ENSP00000349437:A2264V ENSP00000349437:A2264V A + 2 0 IGF2R 160437596 1.000000 0.71417 9.630000e-01 0.404240 3.470000e-01 0.291110 5.962000 0.70364 1.389000 0.465260 -0.169000 0.133240 GCC TCGA-FB-AAQ0-01A-31D-A40W-08 IGF2R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042931.1 0 0 0 5 384 1 69 0 3.922370e-03 0 99 1 69 7 0 0 0 0 0 2 1 0.934008 5 375 0 66 2 -2.560631 1 1 0 0 1 0 0 0 1.833958 1 0.670000 1.880000 0.624744 0.030000 0 0.080000 0.030000 0.040067 0.030000 0 1.000000e-02 6.000000e-02 TAP1 6890 broad.mit.edu 37 6 32820990 32820990 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:32820990C>T ENST00000354258.4 - 1 765 c.604G>A c.(604-606)Gtc>Atc p.V202I PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_5'Flank NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 21 Lapatinib(DB01259) GCATAACTGACAACGAAGGCG 0.657000 0 SO:0001583 missense ENST00000354258.4 0 1 hg19 CCDS4758.1 . . . . . . . . . . C 10.410000 1.341922 0.243390 . . ENSG00000168394 ENST00000354258 D 0.86865 -2.18 4.340000 0.387000 0.162590 . 2.688260 0.01391 N 0.013250 T 0.55513 0.1925 N 0.14661 0.345 0.506320 D 0.999887 B 0.12013 0.005 B 0.04013 0.001 T 0.54344 -0.8308 10 0.15499 T 0.54 . 3.260700 0.068480 0.097:0.3375:0.4054:0.1601 . 202 Q03518 TAP1_HUMAN I 202 ENSP00000346206:V202I ENSP00000346206:V202I V - 1 0 TAP1 32928968 0.868000 0.29978 4.800000e-02 0.189610 1.200000e-02 0.079550 0.734000 0.26101 -0.139000 0.114140 -0.185000 0.129090 GTC TCGA-FB-AAQ0-01A-31D-A40W-08 TAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076087.2 1 0 1 7 57 0 21 1 9.826765e-01 14 50 0 21 2 0 0 0 0 0 2 1 0.980538 6 56 0 21 2 -13.124120 1 1 0 0 1 0 0 0 1.907416 0 0.670000 1.880000 0.638515 0.310000 1.400000e-01 0.550000 0.290000 0.327435 0.310000 0 2.100000e-01 4.300000e-01 SLC35B2 347734 broad.mit.edu 37 6 44223304 44223304 + Silent SNP A A T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr6:44223304A>T ENST00000393812.3 - 4 581 c.438T>A c.(436-438)ggT>ggA p.G146G SLC35B2_ENST00000393810.1_Nonstop_Mutation_p.*95R|SLC35B2_ENST00000538577.1_Silent_p.G53G|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAAAGCGCTCACCCGGTGATG 0.572000 0 SO:0001819 synonymous_variant ENST00000393812.3 0 1 hg19 CCDS34462.1 . . . . . . . . . . A 0.730000 -0.780181 0.029290 . . ENSG00000157593 ENST00000393810 . . . 5.790000 -11.600000 0.000590 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . -8.7141 1.373600 0.022150 0.1841:0.2603:0.2932:0.2624 . . . . R 95 . . X - 1 0 SLC35B2 44331282 0.000000 0.05858 1.820000e-01 0.231180 7.910000e-01 0.447100 -3.600000 0.00418 -2.176000 0.007700 -0.379000 0.068010 TGA TCGA-FB-AAQ0-01A-31D-A40W-08 SLC35B2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040724.2 0 0 0 104 207 1 55 1 9.999999e-01 47 39 1 55 7 0 0 0 0 0 2 1 1.000000 101 204 0 52 2 -20.000000 1 1 0 0 1 0 0 0 1.864756 1 0.670000 1.880000 0.630376 0.880000 7.500000e-01 1.000000 1.000000 0.890164 0.880000 1 8.100000e-01 9.600000e-01 LRRC17 10234 broad.mit.edu 37 7 102585031 102585031 + Missense_Mutation SNP G G A rs117261467 byFrequency TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:102585031G>A ENST00000339431.4 + 4 1598 c.1303G>A c.(1303-1305)Gta>Ata p.V435I FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 17 GAAGCAAAGCGTAATAATTAC 0.318000 0 SO:0001583 missense ENST00000339431.4 1 1 hg19 CCDS34721.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 22.800000 4.337605 0.819110 0.0 0.001628 ENSG00000128606 ENST00000339431 T 0.59638 0.25 6.030000 6.030000 0.978120 . 0.000000 0.52532 D 0.000068 T 0.58061 0.2096 M 0.62723 1.935 0.807220 D 1.000000 D 0.58268 0.982 B 0.41374 0.355 T 0.57183 -0.7855 10 0.27785 T 0.31 -22.2805 20.556800 0.993040 0.0:0.0:1.0:0.0 . 435 Q8N6Y2 LRC17_HUMAN I 435 ENSP00000344242:V435I ENSP00000344242:V435I V + 1 0 LRRC17 102372267 1.000000 0.71417 1 0.803570 9.620000e-01 0.633680 3.860000 0.55995 2.861000 0.982270 0.655000 0.942530 GTA TCGA-FB-AAQ0-01A-31D-A40W-08 LRRC17-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347930.1 1 0 1 73 231 0 61 0 2.474385e-01 0 4 0 61 2 0 0 0 0 0 2 1 1.000000 71 228 0 59 2 -2.858997 1 1 121404 178 53 1 1 2 3 2.139247 0 0.670000 1.880000 0.674364 0.720000 5.800000e-01 1.000000 0.730000 0.738149 0.720000 0 6.500000e-01 8.100000e-01 OR9A4 130075 broad.mit.edu 37 7 141618819 141618819 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr7:141618819C>T ENST00000548136.1 + 1 203 c.144C>T c.(142-144)gtC>gtT p.V48V MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 22 Melanoma(164;0.0171) TCATGATTGTCTGTGTGGATA 0.453000 0 SO:0001819 synonymous_variant ENST00000548136.1 1 1 hg19 CCDS43661.1 TCGA-FB-AAQ0-01A-31D-A40W-08 OR9A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350806.3 0 0 0 20 691 0 118 0 0 0 0 118 2 0 0 0 0 0 2 1 0.999995 20 686 0 117 2 -3.268250 1 1 0 0 1 1 2 3 2.139247 0 0.670000 1.880000 0.674364 0.080000 4.000000e-02 1.000000 0.080000 0.115251 0.080000 0 6.000000e-02 1.100000e-01 XKR4 114786 broad.mit.edu 37 8 56015735 56015735 + Missense_Mutation SNP C C A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:56015735C>A ENST00000327381.6 + 1 787 c.687C>A c.(685-687)agC>agA p.S229R NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CGGCCAACAGCGGCAGCAACA 0.647000 0 SO:0001583 missense ENST00000327381.6 1 1 hg19 CCDS34893.1 . . . . . . . . . . C 9.671000 1.146600 0.212880 . . ENSG00000206579 ENST00000327381;ENST00000543752 D 0.82984 -1.67 4.540000 1.580000 0.234770 . 0.630387 0.15645 N 0.251674 T 0.69522 0.3120 N 0.22421 0.69 0.268130 N 0.968955 B 0.27286 0.174 B 0.31751 0.135 T 0.53753 -0.8394 10 0.12103 T 0.63 -2.5041 9.169000 0.370690 0.0:0.8629:0.0:0.1371 . 229 Q5GH76 XKR4_HUMAN R 229 ENSP00000328326:S229R ENSP00000328326:S229R S + 3 2 XKR4 56178289 0.971000 0.33674 9.970000e-01 0.539660 9.160000e-01 0.546740 0.523000 0.22925 0.117000 0.181380 0.555000 0.697020 AGC TCGA-FB-AAQ0-01A-31D-A40W-08 XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378129.2 1 0 1 64 169 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 1.000000 63 165 0 53 2 -20.000000 1 1 0 0 1 1 2 3 2.130070 0 0.670000 1.880000 0.674364 0.830000 6.600000e-01 1.000000 0.830000 0.838494 0.830000 0 7.400000e-01 9.300000e-01 CYP7A1 1581 broad.mit.edu 37 8 59404241 59404241 + Silent SNP G G C TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:59404241G>C ENST00000301645.3 - 6 1445 c.1308C>G c.(1306-1308)ccC>ccG p.P436P NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CCGATCCAAAGGGCATGTAGT 0.353000 Neonatal Giant Cell Hepatitis 0 SO:0001819 synonymous_variant Familial Cancer Database Neonatal Hemochromatosis ENST00000301645.3 1 1 hg19 CCDS6171.1 TCGA-FB-AAQ0-01A-31D-A40W-08 CYP7A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378190.1 1 0 1 219 446 0 168 0 0 0 0 168 2 0 0 0 0 0 2 1 1.000000 219 442 0 164 2 -17.452620 1 1 0 0 1 1 2 3 2.130070 0 0.670000 1.880000 0.674364 0.990000 8.800000e-01 1.000000 1.000000 0.977004 0.990000 1 9.300000e-01 1 PREX2 80243 broad.mit.edu 37 8 69033248 69033248 + Missense_Mutation SNP C C T rs143386950 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:69033248C>T ENST00000288368.4 + 30 3965 c.3688C>T c.(3688-3690)Cgg>Tgg p.R1230W NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 178 CAGCAGCGTCCGGACTCTTGC 0.383000 0 SO:0001583 missense ENST00000288368.4 1 1 hg19 CCDS6201.1 . . . . . . . . . . C 32.000000 5.154857 0.946860 2.27E-4 2.33E-4 ENSG00000046889 ENST00000288368 T 0.37752 1.18 5.820000 5.820000 0.927950 . 0.203092 0.44483 D 0.000444 T 0.34279 0.0892 N 0.22421 0.69 0.525010 D 0.999950 P 0.48694 0.914 P 0.44561 0.453 T 0.14448 -1.0472 10 0.72032 D 0.01 . 20.099100 0.978650 0.0:1.0:0.0:0.0 . 1230 Q70Z35 PREX2_HUMAN W 1230 ENSP00000288368:R1230W ENSP00000288368:R1230W R + 1 2 PREX2 69195802 1.000000 0.71417 1 0.803570 9.990000e-01 0.989320 4.666000 0.61554 2.752000 0.944350 0.655000 0.942530 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 PREX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378620.1 1 0 1 120 239 0 81 0 6.506496e-01 0 6 0 81 2 0 0 0 0 0 2 1 1.000000 118 237 0 79 2 -11.606190 1 1 121412 10 40 1 1 2 3 2.096078 0 0.670000 1.880000 0.671102 0.990000 8.500000e-01 1.000000 1.000000 0.971483 0.990000 1 9.200000e-01 1 ZFHX4 79776 broad.mit.edu 37 8 77765105 77765105 + Missense_Mutation SNP G G A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr8:77765105G>A ENST00000521891.2 + 10 6396 c.5948G>A c.(5947-5949)cGt>cAt p.R1983H ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 p.R1983H(2) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATTTGCTCGTCAATACAGG 0.458000 HNSCC(33;0.089) 2 Substitution - Missense(2) SO:0001583 missense ENST00000521891.2 1 1 hg19 CCDS47878.2 . . . . . . . . . . G 14.060000 2.423068 0.430200 . . ENSG00000091656 ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282 T;T;T;T 0.50813 0.73;0.78;0.74;0.74 4.200000 4.200000 0.495250 . 0.000000 0.44483 U 0.000460 T 0.49966 0.1588 M 0.62723 1.935 0.432710 D 0.995226 P;P;P 0.46020 0.796;0.871;0.871 B;B;B 0.42361 0.215;0.385;0.385 T 0.60747 -0.7202 10 0.66056 D 0.02 . 17.142000 0.867560 0.0:0.0:1.0:0.0 . 1938;1938;1983 Q86UP3;Q86UP3-4;G3V138 ZFHX4_HUMAN;.;. H 1983;1983;1938;1938;1957 ENSP00000430497:R1983H;ENSP00000399605:R1938H;ENSP00000050961:R1938H;ENSP00000430848:R1957H ENSP00000050961:R1938H R + 2 0 ZFHX4 77927660 1.000000 0.71417 9.990000e-01 0.593770 9.960000e-01 0.888480 5.860000 0.69546 2.365000 0.801450 0.539000 0.681880 CGT TCGA-FB-AAQ0-01A-31D-A40W-08 ZFHX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379197.2 1 0 1 49 114 0 30 0 0 0 1 0 30 2 0 0 0 0 0 2 1 1.000000 48 113 0 29 2 -20.000000 1 1 120850 7 42 1 0 0 0 2.047479 0 0.670000 1.880000 0.665518 0.880000 6.800000e-01 1.000000 1.000000 0.881237 0.880000 1 7.700000e-01 9.900000e-01 C9orf139 401563 broad.mit.edu 37 9 139929195 139929195 + Missense_Mutation SNP T T A TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chr9:139929195T>A ENST00000314330.2 + 3 1776 c.262T>A c.(262-264)Tgt>Agt p.C88S FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) CCTTCCTGTTTGTGCTGCCAG 0.677000 0 SO:0001583 missense ENST00000314330.2 1 1 hg19 CCDS7023.1 . . . . . . . . . . t 9.954000 1.221083 0.224570 . . ENSG00000180539 ENST00000314330 T 0.55052 0.54 2.950000 2.950000 0.342190 . . . . . T 0.41834 0.1176 N 0.08118 0 0.241950 N 0.995533 P 0.50272 0.933 P 0.52909 0.713 T 0.19257 -1.0311 9 0.87932 D 0 . 7.693500 0.285810 0.0:0.0:0.0:1.0 . 88 Q6ZV77 CI139_HUMAN S 88 ENSP00000318119:C88S ENSP00000318119:C88S C + 1 0 C9orf139 139049016 0.991000 0.36638 9.560000e-01 0.395120 7.200000e-02 0.168830 2.380000 0.44327 1.588000 0.499710 0.241000 0.179340 TGT TCGA-FB-AAQ0-01A-31D-A40W-08 C9orf139-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055213.2 1 0 0 176 179 0 90 0 0 0 0 90 2 0 0 0 0 0 2 1 1.000000 174 175 0 86 2 -20.000000 1 1 0 0 1 0 1 1 1.489689 1 0.670000 1.880000 0.508709 0.960000 8.700000e-01 1.000000 1.000000 0.964882 0.960000 1 9.200000e-01 1 DMD 1756 broad.mit.edu 37 X 32486730 32486730 + Missense_Mutation SNP C C T rs139772014 TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77589c29-e28c-4585-ab6e-05ab8e3c965c 0eb76165-29c0-4220-b6dd-094907cb9510 g.chrX:32486730C>T ENST00000357033.4 - 23 3253 c.3047G>A c.(3046-3048)cGg>cAg p.R1016Q DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGATATTTCCGGCTAATTTC 0.433000 0 SO:0001583 missense ENST00000357033.4 1 1 hg19 CCDS14233.1 . . . . . . . . . . C 2.255000 -0.370542 0.050690 0.0 2.97E-4 ENSG00000198947 ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280 T;T 0.48201 0.82;0.82 5.120000 -5.380000 0.026730 . 0.767750 0.10141 N 0.710788 T 0.21022 0.0506 N 0.02539 -0.55 0.093100 N 1.000000 B;B;B 0.06786 0.0;0.001;0.0 B;B;B 0.06405 0.0;0.002;0.0 T 0.31420 -0.9944 10 0.14252 T 0.57 . 17.640600 0.881350 0.0:0.1026:0.0:0.8974 . 1008;1016;1012 P11532-4;P11532;E9PDN5 .;DMD_HUMAN;. Q 1008;1012;1016;1016;893 ENSP00000367948:R1012Q;ENSP00000354923:R1016Q ENSP00000354923:R1016Q R - 2 0 DMD 32396651 0.282000 0.24268 0 0.037020 4.000000e-03 0.042600 0.582000 0.23834 -1.546000 0.017170 -0.276000 0.100850 CGG TCGA-FB-AAQ0-01A-31D-A40W-08 DMD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056182.2 1 0 1 16 131 0 42 0 1.369128e-02 0 2 0 42 2 0 0 0 0 0 2 1 0.999947 16 130 0 40 2 -3.076678 1 1 121374 10 38 1 0 1 1 0.670000 1.880000 0.670000 0.160000 9.000000e-02 0.250000 0.160000 0.169716 0.160000 0 1.200000e-01 2.100000e-01