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
PDZD7	79955	broad.mit.edu	37	10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7			22					CGTCTGCATGGCTGTGTCCGC	0.741000											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000370215.3	0	1	hg19	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397005	0.96009	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.14266	2.52	5.21	5.21	0.72293	.	0.457692	0.22908	N	0.054180	T	0.37183	0.0994	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	T	0.03761	-1.1006	10	0.48119	T	0.1	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	369;369	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	V	369	ENSP00000359234:A369V	ENSP00000359234:A369V	A	-	2	0	PDZD7	102768787	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	8.990000	0.93510	2.433000	0.82419	0.561000	0.74099	GCC		TCGA-HZ-8002-01A-11D-2201-08	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	0	0	0	3	59	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	7.725786e-01	2	53	0	15	2		0	0	0	0	16	2	-8.309006	1	0	116480	2	26	1	0	1	1	1.994749	0	0.100000	2	0.093199	0.940000	0.290000	1.000000	1.000000	0.827207	0.940000	1	0.550000	1.000000
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000338354.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			CACCTGGGTCGACACCATGTA	0.478000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252436	0.22880	0.0	2.35E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	-11.1	0.00147	Zona pellucida sperm-binding protein (3);	2.913890	0.01909	N	0.039733	T	0.58637	0.2136	N	0.10809	0.05	0.09310	N	1	B;B;B;B;B;B;B	0.24963	0.001;0.115;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0;0.0;0.001	T	0.53655	-0.8408	10	0.08599	T	0.76	.	15.5153	0.75818	0.1221:0.2851:0.5928:0.0	.	947;2207;1476;2356;1599;2217;2227	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	2227;2356;2227;2227;2227;2226;1599;2217;1599;1599;2227;2217;1599;373;947	ENSP00000342210:D2227N;ENSP00000343175:D2217N;ENSP00000327747:D1599N;ENSP00000357905:D2227N;ENSP00000357951:D2217N;ENSP00000357952:D1599N;ENSP00000352593:D947N	ENSP00000331522:D1599N	D	+	1	0	DMBT1	124389669	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.417000	0.07088	-2.593000	0.00455	-1.004000	0.02495	GAC		TCGA-HZ-8002-01A-11D-2201-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	0	0	17	816	0	199	1	3.304017e-01	2	53	0	199	2		0	0	0	0	0	2	1	9.999559e-01	17	796	0	199	2		0	0	0	0	199	2	-2.469359	0	1	121092	6	43	1	0	1	1	1.994749	0	0.100000	2	0.093199	0.400000	0.240000	0.620000	0.400000	0.422912	0.400000	0	0.310000	0.520000
ADARB2	105	broad.mit.edu	37	10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	p.G289R(1)		41		all_epithelial(10;0.059)|Colorectal(49;0.0815)			TAGCGCAGCCCGGCGCGCAGG	0.771000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000381312.1	0	1	hg19	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869534	0.72065	.	.	ENSG00000185736	ENST00000381312	T	0.76448	-1.02	5.24	5.24	0.73138	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87900	0.2690	10	0.87932	D	0	-37.0365	18.8514	0.92232	0.0:1.0:0.0:0.0	.	289	Q9NS39	RED2_HUMAN	R	289	ENSP00000370713:G289R	ENSP00000370713:G289R	G	-	1	0	ADARB2	1395435	1.000000	0.71417	0.875000	0.34327	0.009000	0.06853	7.681000	0.84073	2.445000	0.82738	0.561000	0.74099	GGG		TCGA-HZ-8002-01A-11D-2201-08	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	1	0	0	5	52	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	9.376066e-01	5	51	0	10	2		0	0	0	0	11	2	-10.898560	1	1	0	0		1	0	1	1	1.994091	0	0.100000	2	0.093199	0.990000	0.600000	1.000000	1.000000	0.962344	0.990000	1	0.950000	1.000000
MPP7	143098	broad.mit.edu	37	10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000375732.1	-	17	1865	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000540098.1_Missense_Mutation_p.G536C|MPP7_ENST00000337532.5_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)			22					AAAAGATGACCATATTGACTT	0.318000																								0							SO:0001583	missense			ENST00000375732.1	0	1	hg19	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655017	0.67472	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.18	5.18	0.71444	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.096174	0.64402	D	0.000001	T	0.66790	0.2825	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71879	-0.4459	10	0.66056	D	0.02	.	13.0486	0.58942	0.0:0.9226:0.0:0.0774	.	536	Q5T2T1	MPP7_HUMAN	C	536;536;536;536;297	ENSP00000364884:G536C;ENSP00000337907:G536C;ENSP00000438693:G536C;ENSP00000364871:G536C;ENSP00000398319:G297C	ENSP00000337907:G536C	G	-	1	0	MPP7	28383125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	2.395000	0.81488	0.591000	0.81541	GGT		TCGA-HZ-8002-01A-11D-2201-08	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	1	0	0	4	71	0	26	0	1.646381e-01	0	11	0	26	2		0	0	0	0	0	2	1	8.824205e-01	3	69	0	26	2		0	0	0	0	26	2	-4.123378	1	0	0	0		1	0	1	1	1.994091	0	0.100000	2	0.093199	0.990000	0.370000	1.000000	1.000000	0.869253	0.990000	1	0.640000	1.000000
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000311027.5	+	3	781	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000342922.4_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain			84					CTGTAGTGAGCGCCTTCTGGG	0.522000																								0							SO:0001583	missense			ENST00000311027.5	0	1	hg19	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885704	0.72410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.07908	3.26;3.15;3.15;3.26;3.27;3.17;3.16;3.26;3.26	5.81	3.84	0.44239	DENN (3);	0.057038	0.64402	D	0.000002	T	0.27731	0.0682	M	0.73598	2.24	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.948;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D	0.91635	0.994;0.791;0.992;0.981;0.981;0.981;0.988;0.999;0.993;0.988	T	0.02661	-1.1127	9	.	.	.	-6.6138	14.1753	0.65537	0.487:0.513:0.0:0.0	.	206;206;206;206;206;206;206;206;206;206	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	206	ENSP00000343902:R206C;ENSP00000385585:R206C;ENSP00000384435:R206C;ENSP00000304505:R206C;ENSP00000310933:R206C;ENSP00000384204:R206C;ENSP00000378753:R206C;ENSP00000378745:R206C;ENSP00000384287:R206C	.	R	+	1	0	MADD	47253243	1.000000	0.71417	0.788000	0.31933	0.970000	0.65996	3.083000	0.50136	1.409000	0.46915	0.655000	0.94253	CGC		TCGA-HZ-8002-01A-11D-2201-08	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	0	0	0	13	523	0	108	1	5.465036e-01	4	67	0	108	2		0	0	0	0	0	2	1	9.994934e-01	13	515	0	106	2		0	0	0	0	108	2	-10.762330	1	1	0	0		1	1	2	3	2.029215	0	0.100000	2	0.111988	0.540000	0.280000	1.000000	0.480000	0.610401	0.540000	0	0.390000	1.000000
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	p.E790K(1)		107	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GGTCAAATTCGAACCAAGTAG	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299308.3	1	1	hg19	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	TMEM132B	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA		TCGA-HZ-8002-01A-11D-2201-08	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	1	0	0	13	320	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	9.994030e-01	11	307	0	94	2		0	0	0	0	94	2	-4.016711	1	1	121028	1	32	1	0	1	1	1.998225	0	0.100000	2	0.094112	0.780000	0.440000	1.000000	1.000000	0.782626	0.780000	0	0.590000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-8002-01A-11D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	9	113	0	24	0	4.941126e-01	0	20	0	24	2	1	9.999998e-01	44	555	0	402	2	1	9.941519e-01	9	110	0	24	2	1	1	840	7114	0	24	2	-5.707509	1	1	121404	2	44	1	0	1	1	1.998225	0	0.100000	2	0.094112	0.990000	0.700000	1.000000	1.000000	0.975434	0.990000	1	0.990000	1.000000
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)			63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000382545.3	1	1	hg19	CCDS8535.1																																																																																				TCGA-HZ-8002-01A-11D-2201-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	1	0	0	123	2339	0	474		0	0	0	0	474	2		0	0	0	0	0	2	1	1	120	2280	0	465	2		0	0	0	0	474	2	-9.441565	1	1	0	0		1	1	2	3	2.012033	0	0.100000	2	0.108470	0.990000	0.840000	1.000000	1.000000	0.974911	0.990000	1	0.920000	1.000000
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000553532.1	-	8	857	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.G235E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E					timeless circadian clock			49					CTGCCCTACTCCCGCCAGCTG	0.547000																								0							SO:0001583	missense			ENST00000553532.1	1	1	hg19	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277284	0.05679	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.39056	1.1;1.1;1.1	5.42	3.49	0.39957	Timeless protein (1);	0.470219	0.24623	N	0.036943	T	0.18923	0.0454	N	0.04508	-0.205	0.09310	N	1	B;B	0.24675	0.089;0.109	B;B	0.30943	0.075;0.122	T	0.22800	-1.0206	10	0.11182	T	0.66	-0.0727	8.6066	0.33778	0.1394:0.5219:0.3387:0.0	.	235;236	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	235;236;236	ENSP00000229201:G235E;ENSP00000450607:G236E;ENSP00000450848:G236E	ENSP00000229201:G236E	G	-	2	0	TIMELESS	55111636	0.077000	0.21312	0.764000	0.31436	0.291000	0.27294	2.205000	0.42770	2.715000	0.92844	0.655000	0.94253	GGA		TCGA-HZ-8002-01A-11D-2201-08	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	1	0	0	19	366	0	73	1	6.312343e-01	7	34	0	73	2		0	0	0	0	0	2	1	9.999878e-01	19	352	0	71	2		0	0	0	0	73	2	-3.227970	1	1	0	0		1	0	1	1	1.998225	0	0.100000	2	0.094112	0.970000	0.610000	1.000000	1.000000	0.914543	0.970000	1	0.780000	1.000000
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				GTGCATTTTTGCTATCATCTC	0.388000																								0							SO:0001583	missense			ENST00000251127.6	0	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972746	0.34848	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98105	-4.72;-4.72;-4.72	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	N	0.08118	0	0.80722	D	1	B;B	0.32526	0.374;0.328	B;B	0.35039	0.194;0.194	D	0.91202	0.4992	10	0.02654	T	1	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	88;88	F2Z323;Q8IZF0	.;NALCN_HUMAN	V	88	ENSP00000251127:A88V;ENSP00000365367:A88V;ENSP00000365373:A88V	ENSP00000251127:A88V	A	-	2	0	NALCN	100845563	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.635000	0.89317	0.563000	0.77884	GCA		TCGA-HZ-8002-01A-11D-2201-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	0	0	0	7	386	0	96	0	2.560592e-02	0	12	0	96	2		0	0	0	0	0	2	1	9.789733e-01	7	376	0	95	2		0	0	0	0	96	2	-6.628334	1	0	0	0		1	1	2	3	2.015544	0	0.100000	2	0.108911	0.410000	0.170000	1.000000	0.350000	0.491448	0.410000	0	0.270000	0.790000
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000218789.5_Silent_p.F17F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7			41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)		AGTTTAACTTCCAGCAGACCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000375741.2	1	1	hg19	CCDS45068.1																																																																																				TCGA-HZ-8002-01A-11D-2201-08	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	16	572	0	131	1	4.448522e-01	3	50	0	131	2		0	0	0	0	0	2	1	9.999196e-01	15	561	0	130	2		0	0	0	0	131	2	-2.939235	1	1	0	0		1	1	2	3	2.015544	0	0.100000	2	0.108911	0.580000	0.330000	1.000000	0.550000	0.638330	0.580000	0	0.440000	0.940000
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13			79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		CTCTTTCTTTTTCTTAATTGG	0.363000													Esophageal Squamous(187;747 2077 11056 31291 44172)											0							SO:0001583	missense			ENST00000242848.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572751	0.28092	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.49139	1.81;0.79	5.78	2.02	0.26589	.	0.257379	0.33515	N	0.004827	T	0.56790	0.2009	M	0.62723	1.935	0.80722	D	1	P;D	0.54397	0.943;0.966	P;P	0.58266	0.69;0.836	T	0.56220	-0.8015	10	0.51188	T	0.08	.	10.1538	0.42809	0.0:0.1986:0.0:0.8014	.	969;969	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	969	ENSP00000242848:K969I;ENSP00000282007:K969I	ENSP00000242848:K969I	K	-	2	0	ZC3H13	45441774	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.762000	0.55250	0.543000	0.28864	0.533000	0.62120	AAA		TCGA-HZ-8002-01A-11D-2201-08	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	0	0	0	10	401	0	169	0	8.305532e-01	1	131	0	169	2		0	0	0	0	0	2	1	9.965579e-01	9	392	0	165	2		0	0	0	0	169	2	-10.142810	1	0	0	0		1	1	2	3	2.015544	0	0.100000	2	0.108911	0.540000	0.260000	1.000000	0.490000	0.598604	0.540000	0	0.380000	0.960000
HS3ST3B1	9953	broad.mit.edu	37	17	14205111	14205111	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1			7					CGTTCCGGGCGCCGCCAGCCA	0.751000																								0							SO:0001819	synonymous_variant			ENST00000360954.2	0	1	hg19	CCDS11167.1																																																																																				TCGA-HZ-8002-01A-11D-2201-08	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	0	0	0	3	44	0	10		0	0	0	0	10	2		0	0	0	0	0	2		0	0	0	0	0	2		0	0	0	0	10	2	-8.814529	1	0	0	0		1	0	1	1	1.988506	0	0.100000	2	0.091826	0.990000	0.360000	1.000000	1.000000	0.884753	0.990000	1	0.670000	1.000000
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5			36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		GCAGGGGTGGGCTGGACTTCA	0.652000								Other identified genes with known or suspected DNA repair function																0							SO:0001583	missense			ENST00000317905.5	1	1	hg19	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285118	0.23478	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.59638	0.25;0.43	5.15	4.19	0.49359	.	1.175340	0.06100	N	0.665238	T	0.48786	0.1519	L	0.35723	1.085	0.47153	D	0.999332	B;B;B	0.22909	0.013;0.013;0.077	B;B;B	0.26094	0.003;0.003;0.066	T	0.12630	-1.0540	10	0.07813	T	0.8	-1.086	11.4825	0.50333	0.0879:0.0:0.9121:0.0	.	844;817;40	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	S	439;844;844	ENSP00000394820:P844S;ENSP00000317636:P844S	ENSP00000317636:P844S	P	-	1	0	RECQL5	71136397	0.049000	0.20398	0.010000	0.14722	0.558000	0.35554	1.541000	0.36126	1.180000	0.42898	0.563000	0.77884	CCC		TCGA-HZ-8002-01A-11D-2201-08	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	0	0	0	12	454	0	73	0	2.243800e-01	0	32	0	73	2		0	0	0	0	0	2	1	9.990415e-01	12	446	0	72	2		0	0	0	0	73	2	-3.769229	1	1	0	0		1	0	1	1	1.988972	0	0.100000	2	0.091826	0.510000	0.280000	0.830000	0.510000	0.538603	0.510000	0	0.380000	0.680000
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					TCGGTCTACACTCTCATTTTT	0.443000																								0							SO:0001583	missense			ENST00000261592.5	1	1	hg19	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092768	0.20471	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;T;D;T	0.84442	-1.85;-1.85;-1.29;-1.85;-1.29	5.64	5.64	0.86602	.	0.188941	0.47093	D	0.000242	D	0.83792	0.5331	L	0.40543	1.245	0.41127	D	0.985853	P;B;B;B;B;B;B;B	0.41450	0.75;0.449;0.066;0.136;0.449;0.066;0.017;0.136	B;B;B;B;B;B;B;B	0.42827	0.399;0.215;0.061;0.143;0.143;0.061;0.043;0.061	D	0.84778	0.0771	10	0.54805	T	0.06	-5.3095	19.7023	0.96060	0.0:1.0:0.0:0.0	.	254;117;83;294;368;83;368;213	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	T	368;254;117;83;213;294	ENSP00000261592:S368T;ENSP00000269185:S254T;ENSP00000445733:S83T;ENSP00000438190:S213T;ENSP00000443472:S294T	ENSP00000261592:S368T	S	-	2	0	NOL4	29792334	1.000000	0.71417	0.971000	0.41717	0.099000	0.18886	5.673000	0.68109	2.639000	0.89480	0.557000	0.71058	AGT		TCGA-HZ-8002-01A-11D-2201-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	0	0	26	853	0	211	0	1.330580e-02	0	6	0	211	2		0	0	0	0	0	2	1	9.999999e-01	24	834	0	209	2		0	0	0	0	211	2	-3.461704	1	1	0	0		1	1	2	3	2.003108	0	0.100000	2	0.106256	0.610000	0.400000	1.000000	0.590000	0.654632	0.610000	0	0.490000	0.810000
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	p.R344C(1)		35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Dalfampridine(DB06637)	CTCACCAGGCGGATGATCCTC	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369771.2	0	1	hg19	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215244	0.79352	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.99259	-5.64	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96505	0.9374	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	344	Q16322	KCA10_HUMAN	C	344	ENSP00000358786:R344C	ENSP00000358786:R344C	R	-	1	0	KCNA10	110861903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.505000	0.73708	2.676000	0.91093	0.558000	0.71614	CGC		TCGA-HZ-8002-01A-11D-2201-08	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	0	0	0	16	1078	0	196		0	0	0	0	196	2		0	0	0	0	0	2	1	9.999150e-01	16	1050	0	195	2		0	0	0	0	196	2	-2.308347	0	1	121412	2	40	1	0	1	1	1.999258	0	0.100000	2	0.094112	0.290000	0.170000	0.450000	0.290000	0.305492	0.290000	0	0.220000	0.380000
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1			24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CTCCCGGCCCCGCCGTCTCCG	0.687000																								0							SO:0001583	missense			ENST00000368463.3	0	1	hg19	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305987	0.40795	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.64	3.73	0.42828	.	0.381252	0.23284	N	0.049879	T	0.07098	0.0180	M	0.65975	2.015	0.25005	N	0.991446	B	0.27498	0.18	B	0.17722	0.019	T	0.18241	-1.0343	10	0.66056	D	0.02	-7.6894	6.8497	0.24008	0.0:0.7955:0.0:0.2045	.	163	Q96AQ6	PBIP1_HUMAN	Q	134;163;163;8;163	ENSP00000357450:R134Q;ENSP00000357448:R163Q;ENSP00000438584:R8Q;ENSP00000357445:R163Q	ENSP00000295523:R163Q	R	-	2	0	PBXIP1	153187388	0.841000	0.29509	0.988000	0.46212	0.773000	0.43773	2.101000	0.41787	1.163000	0.42636	0.563000	0.77884	CGG		TCGA-HZ-8002-01A-11D-2201-08	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	0	0	6	111	0	18	0	5.506923e-01	1	32	0	18	2		0	0	0	0	0	2	1	9.569276e-01	6	102	0	18	2		0	0	0	0	18	2	-9.940429	1	1	121304	2	26	1	1	2	3	2.000801	0	0.100000	2	0.105812	0.990000	0.460000	1.000000	1.000000	0.903023	0.990000	1	0.720000	1.000000
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2			9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)		AGGATCTGGCGTGGCATCCCG	0.552000																								0							SO:0001583	missense			ENST00000368097.4	1	1	hg19	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724566	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307	D;D;D	0.91631	-2.88;-2.88;-2.88	4.65	2.68	0.31781	Calponin homology domain (1);	0.407364	0.15695	U	0.249233	D	0.92945	0.7755	H	0.97611	4.04	0.58432	D	0.999999	P	0.39060	0.657	B	0.40228	0.323	D	0.92678	0.6156	9	.	.	.	-12.6358	10.6602	0.45698	0.0:0.0:0.4966:0.5034	.	196	P37802	TAGL2_HUMAN	C	196;217;196	ENSP00000357077:R196C;ENSP00000357076:R217C;ENSP00000357075:R196C	.	R	-	1	0	TAGLN2	158155228	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	3.226000	0.51254	0.628000	0.30357	0.655000	0.94253	CGC		TCGA-HZ-8002-01A-11D-2201-08	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	0	0	1	21	884	0	126	1	1	328	2041	0	126	2		0	0	0	0	0	2	1	9.999965e-01	20	859	0	126	2		0	0	0	0	126	2	-14.823980	1	1	0	0		1	1	2	3	2.000801	0	0.100000	2	0.105812	0.480000	0.300000	1.000000	0.470000	0.537529	0.480000	0	0.380000	0.650000
RPL11	6135	broad.mit.edu	37	1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11			6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)			GGACAGGCTGCATTGGGGCCA	0.517000																								0							SO:0001587	stop_gained			ENST00000374550.3	0	1	hg19	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354407	0.82243	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	.	.	.	5.7	3.82	0.43975	.	0.218912	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-16.091	7.4225	0.27079	0.1337:0.7263:0.0:0.14	.	.	.	.	X	150;148	.	ENSP00000363676:C150X	C	+	3	2	RPL11	23894928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.446000	0.44908	1.417000	0.47077	-0.218000	0.12543	TGC		TCGA-HZ-8002-01A-11D-2201-08	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	0	0	0	3	74	0	19	1	1	3	7669	0	19	2		0	0	0	0	0	2	1	8.041530e-01	2	73	0	19	2		0	0	0	0	19	2	-6.410007	1	0	0	0		1	0	1	1	1.999258	0	0.100000	2	0.094112	0.800000	0.240000	1.000000	1.000000	0.761606	0.800000	0	0.460000	1.000000
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000371058.1_Splice_Site|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371059.3_Splice_Site	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	p.?(2)		36					TATCCTAACAGAATTTATTTA	0.299000																								2	Unknown(2)						SO:0001630	splice_region_variant			ENST00000349533.6	0	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.163980	0.21538	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65808743	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	5.008000	0.63991	2.619000	0.88677	0.460000	0.39030	.		TCGA-HZ-8002-01A-11D-2201-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	5	156	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	9.321202e-01	5	150	0	70	2		0	0	0	0	70	2	-7.362274	1	0	0	0		1	0	1	1	1.999258	0	0.100000	2	0.094112	0.640000	0.250000	1.000000	1.000000	0.663998	0.640000	0	0.410000	0.940000
LPPR4	0	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000370184.1_Silent_p.R566R|LPPR4_ENST00000457765.1_Silent_p.R666R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN				72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)			CTTCTTCCCGCGACTCCACCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000370185.3	1	1	hg19	CCDS757.1																																																																																				TCGA-HZ-8002-01A-11D-2201-08	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	1	0	0	15	266	0	70	0	2.491065e-01	0	17	0	70	2		0	0	0	0	0	2	1	9.998702e-01	14	263	0	70	2		0	0	0	0	70	2	-17.161540	1	1	0	0		1	0	1	1	1.999258	0	0.100000	2	0.094112	0.990000	0.620000	1.000000	1.000000	0.935565	0.990000	1	0.820000	1.000000
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					GCAGGCCCCCAGGCCCAACAG	0.652000																								0							SO:0001583	missense			ENST00000344754.4	0	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670089	0.47677	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.27104	1.72;1.69	5.39	5.39	0.77823	.	0.000000	0.30060	N	0.010502	T	0.37293	0.0998	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.987	T	0.05733	-1.0867	10	0.28530	T	0.3	.	12.0747	0.53636	1.0:0.0:0.0:0.0	.	1659;1659	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	1659	ENSP00000341141:L1659P;ENSP00000202578:L1659P	ENSP00000202578:L1659P	L	-	2	0	SIGLEC1	3618268	0.998000	0.40836	1.000000	0.80357	0.103000	0.19146	4.194000	0.58393	2.162000	0.67917	0.533000	0.62120	CTG		TCGA-HZ-8002-01A-11D-2201-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	1	0	0	3	61	0	11	0	8.948709e-02	0	8	0	11	2		0	0	0	0	0	2	1	7.970732e-01	3	58	0	11	2		0	0	0	0	11	2	-6.872078	1	1	0	0		1	1	2	3	2.023883	0	0.100000	2	0.110672	0.990000	0.320000	1.000000	1.000000	0.867233	0.990000	1	0.620000	1.000000
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000352178.5_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase			17				L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000398165.3	1	1	hg19	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511235	0.12883	.	.	ENSG00000160200	ENST00000430013	.	.	.	4.63	2.54	0.30619	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	4	.	.	.	-36.0301	2.2239	0.03979	0.108:0.212:0.462:0.2179	.	.	.	.	V	49	.	.	A	-	2	0	CBS	43352443	0.981000	0.34729	1.000000	0.80357	0.499000	0.33736	0.337000	0.19841	0.911000	0.36747	0.563000	0.77884	GCT		TCGA-HZ-8002-01A-11D-2201-08	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	0	0	0	17	618	0	131	0	1.582446e-01	1	24	0	131	2		0	0	0	0	0	2	1	9.999580e-01	17	604	0	128	2		0	0	0	0	131	2	-3.120661	1	1	0	0		1	0	0	0	1.953017	0	0.100000	2	0.072165	0.520000	0.310000	0.780000	0.510000	0.537062	0.520000	0	0.400000	0.660000
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000402357.1	+	2	338	c.205G>A	c.(205-207)Gcg>Acg	p.A69T	FAM19A5_ENST00000358295.5_Missense_Mutation_p.A62T|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5			7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)			CGCCCGCTGTGCGTGTAGAAA	0.706000																								0							SO:0001583	missense			ENST00000402357.1	0	1	hg19	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446877	0.84101	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.75474	0.3854	M	0.62723	1.935	0.80722	D	1	D;D	0.62365	0.975;0.991	P;P	0.62382	0.591;0.901	T	0.78409	-0.2215	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	62;69	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	69;69;62	.	ENSP00000336812:A69T	A	+	1	0	FAM19A5	47428937	1.000000	0.71417	0.125000	0.21846	0.391000	0.30476	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCG		TCGA-HZ-8002-01A-11D-2201-08	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	0	0	0	6	188	0	35	0	2.393978e-01	0	26	0	35	2		0	0	0	0	0	2	1	9.582568e-01	6	176	0	33	2		0	0	0	0	35	2	-8.606893	1	0	0	0		1	0	0	0	1.960641	0	0.100000	2	0.075975	0.610000	0.260000	1.000000	1.000000	0.638900	0.610000	0	0.410000	0.870000
MAP3K2	10746	broad.mit.edu	37	2	128065382	128065382	+	Splice_Site	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128065382T>C	ENST00000409947.1	-	17	1917		c.e17-2		MAP3K2_ENST00000344908.5_Splice_Site			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2			7	Colorectal(110;0.1)			Bosutinib(DB06616)	GCAACACTCCTGAAAAGAAAC	0.368000																								0							SO:0001630	splice_region_variant			ENST00000409947.1	0	0	hg19	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760741	0.69763	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0018	0.80297	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K2	127781852	1.000000	0.71417	0.979000	0.43373	0.879000	0.50718	7.997000	0.88414	2.226000	0.72624	0.528000	0.53228	.		TCGA-HZ-8002-01A-11D-2201-08	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	1	0	1	2	37	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	6.515365e-01	2	34	0	9	2		0	0	0	0	9	2	-4.067877	1	0	0	0		1	1	2	3	2.032224	0	0.100000	2	0.112863	0.990000	0.280000	1.000000	1.000000	0.876247	0.990000	1	0.630000	1.000000
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000409816.2	+	16	2049	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB			75	Colorectal(110;0.1)				GCTGTGCCTGCGGCAGCTGCG	0.672000																								0							SO:0001583	missense			ENST00000409816.2	0	1	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086081	0.76642	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.72394	-0.65;-0.65;-0.65	4.93	4.04	0.47022	Myosin head, motor domain (2);	0.419727	0.22981	N	0.053306	D	0.84705	0.5531	M	0.91612	3.225	0.40257	D	0.978134	D	0.76494	0.999	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	9.7827	0.40658	0.1463:0.777:0.0:0.0767	.	673	Q6PIF6	MYO7B_HUMAN	W	673	ENSP00000374175:R673W;ENSP00000415090:R673W;ENSP00000386461:R673W	ENSP00000374175:R673W	R	+	1	2	MYO7B	128066863	0.096000	0.21769	0.486000	0.27416	0.986000	0.74619	2.109000	0.41863	1.198000	0.43158	0.655000	0.94253	CGG		TCGA-HZ-8002-01A-11D-2201-08	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	0	0	5	137	0	20	0	1.198744e-01	0	14	0	20	2		0	0	0	0	0	2	1	9.244901e-01	5	126	0	19	2		0	0	0	0	20	2	-7.526299	1	1	0	0		1	1	2	3	2.032224	0	0.100000	2	0.112863	0.850000	0.310000	1.000000	1.000000	0.793415	0.850000	1	0.520000	1.000000
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		CACTGCTACCTTTGGGGCCTG	0.502000																								0							SO:0001583	missense			ENST00000374866.3	1	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330784	0.60853	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94184	-3.37	4.57	3.4	0.38934	.	0.000000	0.50627	D	0.000104	D	0.95686	0.8597	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.71674	0.998;0.974	D;P	0.73708	0.981;0.831	D	0.94257	0.7499	9	.	.	.	.	8.2608	0.31783	0.0:0.181:0.0:0.819	.	260;620	Q5PR22;P05997	.;CO5A2_HUMAN	N	620;260	ENSP00000364000:K620N	.	K	-	3	2	COL5A2	189636152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.183000	0.32041	0.711000	0.32018	0.383000	0.25322	AAA		TCGA-HZ-8002-01A-11D-2201-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	0	0	26	981	0	216	1	9.999999e-01	9	981	0	216	2		0	0	0	0	0	2	1	9.999999e-01	26	954	0	216	2		0	0	0	0	216	2	-3.142539	1	1	0	0		1	1	2	3	2.032224	0	0.100000	2	0.112863	0.560000	0.350000	1.000000	0.520000	0.630023	0.560000	0	0.440000	1.000000
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1			41					CTGGCCAGTCGAGCTCATCAA	0.582000																								0							SO:0001583	missense			ENST00000304032.8	0	1	hg19	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.882175|5.882175	0.97062|0.97062	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81772|0.81772	0.4893|0.4893	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.992;0.994|.	T|T	0.82232|0.82232	-0.0559|-0.0559	10|5	0.56958|.	D|.	0.05|.	.|.	19.3968|19.3968	0.94610|0.94610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	619;672|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	672;619;884;511|224;73	ENSP00000307634:E672K;ENSP00000338378:E619K;ENSP00000386897:E884K;ENSP00000411824:E511K|.	ENSP00000307634:E672K|.	E|R	+|+	1|2	0|0	AGAP1|AGAP1	236622564|236622564	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.981000|0.981000	0.71138|0.71138	9.722000|9.722000	0.98770|0.98770	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA		TCGA-HZ-8002-01A-11D-2201-08	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	0	12	698	0	122	1	3.042277e-01	4	57	0	122	2		0	0	0	0	0	2	1	9.990402e-01	13	687	0	122	2		0	0	0	0	122	2	-2.881783	1	1	121412	1	34	1	1	2	3	2.032224	0	0.100000	2	0.112863	0.380000	0.190000	1.000000	0.340000	0.491801	0.380000	0	0.270000	1.000000
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|EAF1-AS1_ENST00000608408.1_RNA	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase			19					CCTCCACACCCTCATGCCGGT	0.587000																								0							SO:0001583	missense			ENST00000383788.5	0	1	hg19	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563678	0.27915	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.91295	-2.64;-2.82;-2.77;-2.77;-2.79	5.3	2.12	0.27331	.	0.637835	0.16393	N	0.216367	D	0.87767	0.6260	L	0.48642	1.525	0.80722	D	1	P;B;P;P	0.44044	0.683;0.024;0.555;0.825	B;B;B;P	0.46026	0.212;0.033;0.17;0.501	D	0.84958	0.0875	10	0.72032	D	0.01	0.0611	7.265	0.26224	0.0:0.5012:0.0:0.4988	.	378;403;412;402	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	D	403;402;402;412;402;413;378	ENSP00000373297:E403D;ENSP00000373291:E402D;ENSP00000402511:E402D;ENSP00000373298:E412D;ENSP00000373296:E378D	ENSP00000373291:E402D	E	-	3	2	COLQ	15470402	0.005000	0.15991	0.679000	0.29978	0.987000	0.75469	-0.179000	0.09768	0.637000	0.30526	-0.369000	0.07265	GAG		TCGA-HZ-8002-01A-11D-2201-08	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	0	0	0	4	158	0	21	0	3.953641e-02	0	10	0	21	2		0	0	0	0	0	2	1	8.774925e-01	2	152	0	20	2		0	0	0	0	21	2	-6.152182	1	0	0	0		1	1	2	3	2.010426	0	0.100000	2	0.108028	0.590000	0.190000	1.000000	1.000000	0.632125	0.590000	0	0.350000	1.000000
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CTTAAATAGAAATACTGAGAA	0.443000																								0							SO:0001630	splice_region_variant			ENST00000256935.8	0	1	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986874	0.35036	.	.	ENSG00000134516	ENST00000256935	T	0.50001	0.76	5.67	5.67	0.87782	.	0.145914	0.64402	D	0.000012	T	0.30008	0.0751	N	0.22421	0.69	0.80722	D	1	P	0.45902	0.868	B	0.34038	0.174	T	0.13845	-1.0494	10	0.41790	T	0.15	.	12.6492	0.56751	0.8529:0.1471:0.0:0.0	.	76	Q92608	DOCK2_HUMAN	Y	76	ENSP00000256935:N76Y	ENSP00000256935:N76Y	N	+	1	0	DOCK2	169030661	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	3.543000	0.53633	2.158000	0.67659	0.460000	0.39030	AAT		TCGA-HZ-8002-01A-11D-2201-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	0	0	6	272	0	60	0	1.508191e-01	0	27	0	60	2		0	0	0	0	0	2	1	9.612907e-01	6	262	0	60	2		0	0	0	0	60	2	-3.453223	1	1	0	0		1	0	1	1	1.993919	0	0.100000	2	0.092742	0.450000	0.180000	0.850000	0.420000	0.477812	0.450000	0	0.290000	0.640000
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	p.V214I(1)		37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		ATGGAGATGACGCCAAAGATA	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000524391.1	0	1	hg19	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	KCNV1	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC		TCGA-HZ-8002-01A-11D-2201-08	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	0	0	0	11	355	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	9.981255e-01	9	347	0	91	2		0	0	0	0	93	2	-3.693547	1	1	121412	1	30	1	1	2	3	2.050326	0	0.100000	2	0.116781	0.700000	0.340000	1.000000	1.000000	0.727123	0.700000	0	0.490000	1.000000
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E|ZFHX4_ENST00000455469.2_Silent_p.E2461E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		CAACTCTGGAACTCTGGCAGG	0.478000										HNSCC(33;0.089)														0							SO:0001819	synonymous_variant			ENST00000521891.2	1	1	hg19	CCDS47878.2																																																																																				TCGA-HZ-8002-01A-11D-2201-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	0	0	23	866	0	170	0	9.333394e-02	0	19	0	170	2		0	0	0	0	0	2	1	9.999991e-01	25	845	0	167	2		0	0	0	0	170	2	-3.359118	1	1	0	0		1	1	2	3	2.050326	0	0.100000	2	0.116781	0.570000	0.350000	1.000000	0.520000	0.648164	0.570000	0	0.440000	1.000000
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045			19			LUSC - Lung squamous cell carcinoma(32;0.00575)		GGACTTTCTGCGTTACCGCCA	0.647000																								0							SO:0001583	missense			ENST00000242315.3	1	1	hg19	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906243	0.92107	0.0	1.18E-4	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21932	1.98;1.98	4.92	4.92	0.64577	EF-hand-like domain (1);	0.137454	0.51477	D	0.000087	T	0.27278	0.0669	N	0.24115	0.695	0.54753	D	0.999985	D	0.76494	0.999	P	0.56700	0.804	T	0.03829	-1.1000	10	0.66056	D	0.02	.	15.2674	0.73672	0.0:1.0:0.0:0.0	.	225	Q9UPV7	K1045_HUMAN	C	225	ENSP00000444138:R225C;ENSP00000242315:R225C	ENSP00000242315:R225C	R	+	1	0	KIAA1045	34966561	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.116000	0.57871	2.282000	0.76494	0.561000	0.74099	CGT		TCGA-HZ-8002-01A-11D-2201-08	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	1	0	0	25	414	0	86	0	3.141406e-02	0	5	0	86	2		0	0	0	0	0	2	1	9.999998e-01	24	408	0	85	2		0	0	0	0	86	2	-6.325333	1	1	121060	1	29	1	0	0	0	1.960936	0	0.100000	2	0.075975	0.990000	0.730000	1.000000	1.000000	0.962536	0.990000	1	0.890000	1.000000
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1			24					ACTGCCTCTCGTCGATACTGG	0.468000																								0							SO:0001587	stop_gained			ENST00000375006.3	0	1	hg19	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525944	0.96431	2.61E-4	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.89	2.9	0.33743	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2486	12.3398	0.55087	0.0:0.0:0.6625:0.3375	.	.	.	.	X	83;18	.	ENSP00000364145:R83X	R	-	1	2	PFKFB1	55004052	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.625000	0.37029	0.359000	0.24239	0.594000	0.82650	CGA		TCGA-HZ-8002-01A-11D-2201-08	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	0	0	0	6	178	0	40	0	1.592900e-03	0	2	0	40	2		0	0	0	0	0	2	1	9.633227e-01	6	174	0	40	2		0	0	0	0	40	2	-3.812622	1	1	121402	7	40	1	0	1	1			0.100000	2	0.100000	0.330000	0.140000	0.630000	0.310000	0.357935	0.330000	0	0.220000	0.480000
