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
TP53	7157	broad.mit.edu	37	17	7578411	7578412	+	In_Frame_Ins	INS	-	-	ACG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			-	ACG	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7578411_7578412insACG	ENST00000269305.4	-	5	707_708	c.518_519insCGT	c.(517-519)gtg>gtCGTg	p.173_173V>VV	TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000420246.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV	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.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGCAGCGCCTCACAACCTCCGT	0.658000		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	55	Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(8)|Deletion - In frame(5)|Insertion - Frameshift(1)						SO:0001652	inframe_insertion	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	0	1	hg19	CCDS11118.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	85	316	0	45	0	1	0	136	0	45	2	1	1	166	739	0	45	2	1	1.000000	93	313	0	44	2	0	0	0	0	0	0		-3.551603	1	1	0	0		1	0	1	1	1.687130	1	0.410000	1.670000	0.257862	0.810000	0.660000	0.960000	0.820000	0.818659	0.810000	0	7.300000e-01	8.900000e-01
ATP9A	10079	broad.mit.edu	37	20	50238628	50238635	+	Frame_Shift_Del	DEL	GATGTCTT	GATGTCTT	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			GATGTCTT	-	GATGTCTT	GATGTCTT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:50238628_50238635delGATGTCTT	ENST00000338821.5	-	19	2357_2364	c.2093_2100delAAGACATC	c.(2092-2100)caagacatcfs	p.QDI698fs	ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs|ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A			48					GAAAAACGTGGATGTCTTGGTTTCTGGT	0.510000																								0							SO:0001589	frameshift_variant			ENST00000338821.5	1	1	hg19	CCDS33489.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	1	0	0	34	560	0	82	0	9.906996e-01	0	121	0	82	2			0	0	0	82		1	0.939960	41	565	1	79	24	0	0	0	0	0	0		-2.665561	1	1	0	0		1	0	1	1	1.949394	0	0.410000	1.670000	0.345608	0.240000	0.170000	0.340000	0.250000	0.257449	0.240000	0	2.000000e-01	3.000000e-01
SYT15	83849	broad.mit.edu	37	10	46965752	46965752	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:46965752C>T	ENST00000374321.4	-	5	851	c.785G>A	c.(784-786)cGt>cAt	p.R262H	SYT15_ENST00000374323.4_Missense_Mutation_p.R315H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H|SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV			13					CCAGATGACACGCCGGCAGTC	0.607000													Ovarian(57;1152 1428 19651 37745)											0							SO:0001583	missense			ENST00000374321.4	1	1	hg19	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	6.785	0.513877	0.12944	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	D;T;T;T;T	0.95272	-3.66;3.13;3.13;3.13;3.13	5.13	-5.29	0.02747	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.006260	0.07978	N	0.985110	D	0.83788	0.5330	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.002;0.004	T	0.71002	-0.4718	10	0.36615	T	0.2	.	3.5654	0.07897	0.1045:0.2315:0.1321:0.5319	.	262;262	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	H	262;52;262;262;101;315;262	ENSP00000363448:R52H;ENSP00000363445:R262H;ENSP00000427607:R262H;ENSP00000363443:R315H;ENSP00000363441:R262H	ENSP00000363441:R262H	R	-	2	0	SYT15	46385758	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-2.197000	0.01240	-0.739000	0.04809	-0.254000	0.11334	CGT		TCGA-HZ-8636-01A-21D-2396-08	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	1	0	1	28	251	0	64	0	0	0	1	0	64	2		0	0	0	0	64	2	1	1.000000	26	250	0	62	2		0	0	0	0	64	2	-3.318796	1	1	121130	16	36	1	0	0	0	2.029479	0	0.410000	1.670000	0.376783	0.460000	0.310000	0.630000	0.460000	0.473781	0.460000	0	3.800000e-01	5.500000e-01
CDHR1	92211	broad.mit.edu	37	10	85974118	85974118	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:85974118C>T	ENST00000372117.3	+	17	2424	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					GAGAAACCTCCCAATGAGAAC	0.617000																								0							SO:0001583	missense			ENST00000372117.3	0	1	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817901	0.32145	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.55930	0.64;0.49	5.44	4.54	0.55810	.	1.112700	0.06432	N	0.724327	T	0.47525	0.1450	L	0.57536	1.79	0.34497	D	0.705606	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47971	-0.9075	10	0.21540	T	0.41	-26.0702	5.1749	0.15129	0.1663:0.6647:0.0:0.169	.	478;774	E7EN47;Q96JP9	.;CDHR1_HUMAN	L	774;478	ENSP00000361189:P774L;ENSP00000415980:P478L	ENSP00000361189:P774L	P	+	2	0	CDHR1	85964098	0.576000	0.26700	0.971000	0.41717	0.773000	0.43773	2.688000	0.46984	1.308000	0.44962	0.561000	0.74099	CCC		TCGA-HZ-8636-01A-21D-2396-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	0	0	0	11	590	0	79		0	0	0	0	79	2		0	0	0	0	79	2	1	0.998275	11	585	0	78	2		0	0	0	0	79	2	-2.817233	1	1	0	0		1	0	0	0	2.029479	0	0.410000	1.670000	0.376783	0.080000	0.030000	0.150000	0.090000	0.091654	0.080000	0	5.000000e-02	1.200000e-01
MUC5B	727897	broad.mit.edu	37	11	1250411	1250411	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1250411C>G	ENST00000529681.1	+	9	1046	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P330A|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			CCGGACCTGCCCCCTCAACAT	0.687000																								0							SO:0001583	missense			ENST00000529681.1	1	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.296	0.422771	0.11928	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.91521	-2.86;-2.86	3.36	1.37	0.22104	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.94863	0.8340	M	0.90145	3.09	0.41081	D	0.985529	P;D;D	0.76494	0.892;0.999;0.999	P;D;D	0.69654	0.776;0.965;0.965	D	0.93936	0.7219	9	0.87932	D	0	.	9.0327	0.36269	0.0:0.8092:0.0:0.1908	.	330;986;330	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	A	330;330;330;363	ENSP00000436812:P330A;ENSP00000415793:P330A	ENSP00000343037:P330A	P	+	1	0	MUC5B	1206987	1.000000	0.71417	0.469000	0.27204	0.138000	0.21146	2.905000	0.48727	0.620000	0.30215	0.205000	0.17691	CCC		TCGA-HZ-8636-01A-21D-2396-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	13	46	0	14	1	4.950115e-01	4	3	0	14	2		0	0	0	0	14	2	1	0.999670	13	44	0	14	2		0	0	0	0	14	2	-19.999990	1	1	0	0		1	0	1	1	1.929722	0	0.410000	1.670000	0.338083	0.940000	0.550000	1.000000	1.000000	0.890096	0.940000	1	7.300000e-01	1
MUC5B	727897	broad.mit.edu	37	11	1262417	1262417	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1262417C>T	ENST00000529681.1	+	31	4365	c.4307C>T	c.(4306-4308)cCg>cTg	p.P1436L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P1439L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming			137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)			GGCCCCTCCCCGGCCCCAGGC	0.662000																								0							SO:0001583	missense			ENST00000529681.1	0	1	hg19	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	7.753	0.703670	0.15172	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17054	2.3;2.5	4.28	0.654	0.17833	.	.	.	.	.	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30504	-0.9976	9	0.87932	D	0	.	6.5043	0.22186	0.1219:0.5936:0.0:0.2846	.	2129;1439	A7Y9J9;E9PBJ0	.;.	L	1436;1439;1437;1506	ENSP00000436812:P1436L;ENSP00000415793:P1439L	ENSP00000343037:P1437L	P	+	2	0	MUC5B	1218993	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.004000	0.13106	-0.519000	0.06444	-1.615000	0.00797	CCG		TCGA-HZ-8636-01A-21D-2396-08	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	1	0	1	10	35	0	9	0	5.754112e-01	1	7	0	9	2		0	0	0	0	9	2	1	0.997420	10	33	0	9	2		0	0	0	0	9	2	-19.827010	1	1	120490	7	30	1	0	1	1	1.929722	0	0.410000	1.670000	0.338083	0.940000	0.510000	1.000000	1.000000	0.881879	0.940000	1	7.100000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-8636-01A-21D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	29	75	0	9	1	9.999982e-01	31	32	0	9	2	1	1	124	360	0	9	2	1	1.000000	29	74	0	8	2	1	1	2968	5046	0	9	2	-19.999920	1	1	0	0		1	2	4	6	2.641319	1	0.410000	1.670000	0.520169	0.990000	0.990000	1.000000	1.000000	0.999914	0.990000	1	9.900000e-01	1
ATP12A	479	broad.mit.edu	37	13	25263488	25263488	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr13:25263488C>T	ENST00000381946.3	+	5	688	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ATP12A_ENST00000218548.6_Missense_Mutation_p.S174F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			AACATCATGTCCAGCTTCAAT	0.537000													Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001583	missense			ENST00000381946.3	1	1	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091802	0.55968	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89050	-2.46;-2.46	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.320771	0.30101	N	0.010404	D	0.89431	0.6713	M	0.64404	1.975	0.28626	N	0.907899	P;P	0.37612	0.531;0.602	B;B	0.42282	0.382;0.378	D	0.87031	0.2135	10	0.87932	D	0	.	16.1375	0.81497	0.0:1.0:0.0:0.0	.	174;174	P54707-2;P54707	.;AT12A_HUMAN	F	174	ENSP00000218548:S174F;ENSP00000371372:S174F	ENSP00000218548:S174F	S	+	2	0	ATP12A	24161488	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.379000	0.52440	2.680000	0.91292	0.561000	0.74099	TCC		TCGA-HZ-8636-01A-21D-2396-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	0	15	324	0	64		0	0	0	0	64	2		0	0	0	0	64	2	1	0.999872	15	321	0	64	2		0	0	0	0	64	2	-3.964014	1	1	0	0		1	0	1	1	1.674578	1	0.410000	1.670000	0.257862	0.170000	0.090000	0.270000	0.170000	0.180415	0.170000	0	1.300000e-01	2.200000e-01
OSGEP	55644	broad.mit.edu	37	14	20916117	20916117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:20916117G>A	ENST00000206542.4	-	8	1160	c.739C>T	c.(739-741)Cga>Tga	p.R247*	OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*|OSGEP_ENST00000555656.1_Nonsense_Mutation_p.R48*	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase			11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)		GCCATGGCTCGCTCTGTGATC	0.453000																								0							SO:0001587	stop_gained			ENST00000206542.4	0	1	hg19	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	G	38	7.251523	0.98164	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4092	16.4221	0.83766	0.0:0.0:1.0:0.0	.	.	.	.	X	48;247;65;65;48	.	ENSP00000206542:R247X	R	-	1	2	OSGEP	19985957	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.358000	0.44134	2.141000	0.66446	0.455000	0.32223	CGA		TCGA-HZ-8636-01A-21D-2396-08	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	1	0	0	33	578	1	111	0	5.844350e-01	1	111	1	111	6		0	0	0	1	111	2	1	0.987000	33	566	1	111	18		0	0	0	1	111	2	-5.604061	1	1	121412	2	38	1	1	2	3	2.222707	0	0.410000	1.670000	0.420688	0.270000	0.180000	1.000000	0.270000	0.327656	0.270000	0	2.200000e-01	3.400000e-01
STRN3	29966	broad.mit.edu	37	14	31404475	31404475	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:31404475G>A	ENST00000357479.5	-	7	1078	c.882C>T	c.(880-882)gaC>gaT	p.D294D	STRN3_ENST00000366206.2_5'Flank|STRN3_ENST00000355683.5_Silent_p.D294D	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3			20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)		TATCAGGATCGTCAGTTAGGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000357479.5	1	1	hg19	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872216	0.17322	.	.	ENSG00000196792	ENST00000556577	.	.	.	5.68	0.861	0.19048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6586	8.8975	0.35474	0.71:0.0:0.29:0.0	.	.	.	.	X	55	.	.	R	-	1	2	STRN3	30474226	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.139000	0.31504	0.117000	0.18138	-0.367000	0.07326	CGA		TCGA-HZ-8636-01A-21D-2396-08	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	0	0	1	107	317	1	69	1	9.998198e-01	17	53	1	69	6		0	0	0	1	69	2	1	1.000000	106	310	1	68	20		0	0	0	1	69	2	-20.000000	1	1	121412	2	31	1	1	2	3	2.222707	0	0.410000	1.670000	0.420688	0.990000	0.990000	1.000000	1.000000	0.999852	0.990000	1	9.900000e-01	1
OTX2	5015	broad.mit.edu	37	14	57268475	57268475	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:57268475G>A	ENST00000555006.1	-	4	1256	c.848C>T	c.(847-849)tCg>tTg	p.S283L	OTX2_ENST00000339475.5_Missense_Mutation_p.S291L|OTX2_ENST00000408990.3_Missense_Mutation_p.S283L|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2			19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)				GAATTTCCACGAGGATGTCTG	0.408000																								0							SO:0001583	missense			ENST00000555006.1	1	1	hg19	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296371	0.40594	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.93712	-3.27;-3.26;-3.26	5.65	3.84	0.44239	.	0.605732	0.13764	N	0.364391	D	0.92506	0.7620	M	0.84219	2.685	0.80722	D	1	P;P	0.51537	0.946;0.838	B;B	0.39258	0.295;0.283	D	0.91171	0.4968	10	0.72032	D	0.01	.	11.382	0.49763	0.1438:0.0:0.8562:0.0	.	291;283	F1T0D1;P32243	.;OTX2_HUMAN	L	291;283;283	ENSP00000343819:S291L;ENSP00000386185:S283L;ENSP00000452336:S283L	ENSP00000343819:S291L	S	-	2	0	OTX2	56338228	1.000000	0.71417	0.762000	0.31397	0.989000	0.77384	9.501000	0.97979	0.949000	0.37715	0.655000	0.94253	TCG		TCGA-HZ-8636-01A-21D-2396-08	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	0	0	1	89	369	1	55		0	0	0	1	55	2		0	0	0	1	55	2	1	1.000000	89	367	1	55	25		0	0	0	1	55	2	-2.937433	1	1	121412	1	35	1	1	2	3	2.222707	0	0.410000	1.670000	0.420688	0.970000	0.790000	1.000000	1.000000	0.949542	0.970000	1	8.700000e-01	1
RYR3	6263	broad.mit.edu	37	15	34102719	34102719	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:34102719C>T	ENST00000389232.4	+	71	10136	c.10066C>T	c.(10066-10068)Cgg>Tgg	p.R3356W	RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			GACAAAGCGGCGGGGAGACTT	0.512000																								0							SO:0001583	missense			ENST00000389232.4	1	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458025	0.63401	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.68025	-0.3	5.15	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.83603	2.65	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.82230	-0.0560	10	0.87932	D	0	.	12.2165	0.54410	0.5396:0.4604:0.0:0.0	.	3351;3356	Q15413-2;Q15413	.;RYR3_HUMAN	W	3356;3356;3351	ENSP00000373884:R3356W	ENSP00000354735:R3351W	R	+	1	2	RYR3	31890011	0.946000	0.32159	1.000000	0.80357	0.726000	0.41606	2.244000	0.43124	0.419000	0.25927	-0.397000	0.06425	CGG		TCGA-HZ-8636-01A-21D-2396-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	1	56	176	0	30		0	0	0	0	30	2		0	0	0	0	30	2	1	1.000000	56	168	0	29	2		0	0	0	0	30	2	-3.949679	1	1	120846	1	28	1	0	1	1	1.911035	1	0.410000	1.670000	0.319296	0.990000	0.790000	1.000000	1.000000	0.962883	0.990000	1	8.900000e-01	1
DLL4	54567	broad.mit.edu	37	15	41224371	41224371	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:41224371A>T	ENST00000249749.5	+	5	937	c.661A>T	c.(661-663)Atc>Ttc	p.I221F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)			4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			TCCCTTAGCTATCTGTCTTTC	0.577000																								0							SO:0001583	missense			ENST00000249749.5	1	1	hg19	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252334	0.59212	.	.	ENSG00000128917	ENST00000249749	T	0.66815	-0.23	5.74	-1.63	0.08345	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.186750	0.56097	D	0.000028	T	0.65749	0.2721	M	0.86953	2.85	0.36665	D	0.878153	B	0.30179	0.271	B	0.24701	0.055	T	0.67902	-0.5550	10	0.87932	D	0	.	12.0444	0.53471	0.758:0.0:0.242:0.0	.	221	Q9NR61	DLL4_HUMAN	F	221	ENSP00000249749:I221F	ENSP00000249749:I221F	I	+	1	0	DLL4	39011663	0.835000	0.29415	0.968000	0.41197	0.989000	0.77384	0.957000	0.29215	-0.286000	0.09076	0.533000	0.62120	ATC		TCGA-HZ-8636-01A-21D-2396-08	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1	1	0	0	10	243	0	65	0	4.655933e-01	0	37	0	65	2		0	0	0	0	65	2	1	0.996796	10	239	0	65	2		0	0	0	0	65	2	-11.927010	1	1	0	0		1	0	1	1	1.911035	1	0.410000	1.670000	0.319296	0.170000	0.080000	0.290000	0.160000	0.180856	0.170000	0	1.200000e-01	2.300000e-01
TLN2	83660	broad.mit.edu	37	15	63089584	63089584	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:63089584G>A	ENST00000561311.1	+	47	6447	c.6217G>A	c.(6217-6219)Gac>Aac	p.D2073N	TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N			Q9Y4G6	TLN2_HUMAN	talin 2			99					CCTGGGCTCCGACGACCCCGA	0.672000																								0							SO:0001583	missense			ENST00000561311.1	0	1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998848	0.19121	.	.	ENSG00000171914	ENST00000306829	T	0.13196	2.61	5.91	0.627	0.17675	.	0.291923	0.41938	N	0.000789	T	0.08582	0.0213	L	0.28115	0.83	0.42219	D	0.991842	B	0.22080	0.064	B	0.14578	0.011	T	0.29088	-1.0023	10	0.29301	T	0.29	-4.2882	10.025	0.42066	0.3442:0.0:0.6558:0.0	.	2073	Q9Y4G6	TLN2_HUMAN	N	2073	ENSP00000303476:D2073N	ENSP00000303476:D2073N	D	+	1	0	TLN2	60876637	1.000000	0.71417	0.002000	0.10522	0.333000	0.28666	4.144000	0.58057	-0.130000	0.11599	-0.982000	0.02568	GAC		TCGA-HZ-8636-01A-21D-2396-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	1	0	0	14	262	0	34	0	1.559849e-01	0	13	0	34	2		0	0	0	0	34	2	1	0.999757	14	259	0	34	2		0	0	0	0	34	2	-16.315840	1	1	121338	9	37	1	0	1	1	1.961557	1	0.410000	1.670000	0.316061	0.210000	0.120000	0.340000	0.210000	0.225280	0.210000	0	1.600000e-01	2.800000e-01
IGDCC4	57722	broad.mit.edu	37	15	65703590	65703590	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:65703590G>A	ENST00000352385.2	-	2	398	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4			44					GGGGTCCAGCGGCAGCAGCCC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000352385.2	1	1	hg19	CCDS10206.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	1	0	0	14	200	0	35	0	6.224334e-02	0	6	0	35	2		0	0	0	0	35	2	1	0.999770	13	199	0	34	2		0	0	0	0	35	2	-17.874960	1	1	121410	2	30	1	0	1	1	1.961557	1	0.410000	1.670000	0.316061	0.270000	0.150000	0.430000	0.270000	0.289285	0.270000	0	2.100000e-01	3.600000e-01
HCN4	10021	broad.mit.edu	37	15	73614835	73614835	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73614835G>A	ENST00000261917.3	-	8	4592	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4			55					TAGATTGGATGGCAGTTTGGA	0.542000																								0							SO:0001583	missense			ENST00000261917.3	0	1	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655637	0.47467	.	.	ENSG00000138622	ENST00000261917	D	0.99436	-5.9	3.52	2.57	0.30868	.	.	.	.	.	D	0.98520	0.9506	L	0.43152	1.355	0.58432	D	0.999999	D	0.60160	0.987	P	0.51516	0.672	D	0.97417	1.0006	9	0.87932	D	0	.	10.8488	0.46759	0.0:0.1926:0.8073:0.0	.	1200	Q9Y3Q4	HCN4_HUMAN	L	1200	ENSP00000261917:P1200L	ENSP00000261917:P1200L	P	-	2	0	HCN4	71401888	1.000000	0.71417	0.996000	0.52242	0.454000	0.32378	8.203000	0.89739	0.550000	0.28991	0.305000	0.20034	CCA		TCGA-HZ-8636-01A-21D-2396-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	0	0	1	4	44	0	10	0	1.176471e-02	0	2	0	10	2		0	0	0	0	10	2	1	0.893223	4	44	0	10	2		0	0	0	0	10	2	-8.971758	1	1	121004	8	32	1	0	1	1	1.970624	1	0.410000	1.670000	0.325676	0.380000	0.130000	0.760000	0.340000	0.408519	0.380000	0	2.300000e-01	5.700000e-01
HCN4	10021	broad.mit.edu	37	15	73615826	73615826	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73615826C>T	ENST00000261917.3	-	8	3601	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4			55					GGGCTCAGTCCAGCGGGGGCA	0.697000																								0							SO:0001583	missense			ENST00000261917.3	1	1	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197648	0.22037	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.21	3.21	0.36854	.	.	.	.	.	T	0.78710	0.4326	L	0.36672	1.1	0.41256	D	0.986742	D	0.71674	0.998	D	0.64042	0.921	T	0.76293	-0.3012	9	0.35671	T	0.21	.	10.0634	0.42288	0.2012:0.7988:0.0:0.0	.	870	Q9Y3Q4	HCN4_HUMAN	R	870	ENSP00000261917:G870R	ENSP00000261917:G870R	G	-	1	0	HCN4	71402879	0.140000	0.22579	0.787000	0.31911	0.879000	0.50718	1.447000	0.35101	1.608000	0.50180	0.448000	0.29417	GGA		TCGA-HZ-8636-01A-21D-2396-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	0	10	243	0	27	0	0	0	1	0	27	2		0	0	0	0	27	2	1	0.996796	9	240	0	26	2		0	0	0	0	27	2	-11.728630	1	1	0	0		1	0	1	1	1.970624	1	0.410000	1.670000	0.325676	0.170000	0.080000	0.290000	0.170000	0.182611	0.170000	0	1.200000e-01	2.300000e-01
GPRC5B	51704	broad.mit.edu	37	16	19883726	19883726	+	Missense_Mutation	SNP	G	G	A	rs149830893	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:19883726G>A	ENST00000300571.2	-	2	633	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B			25					ACCAGCCTCCGCACGCGCCAT	0.677000																								0							SO:0001583	missense			ENST00000300571.2	1	1	hg19	CCDS10581.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.0	4.360599	0.82353	2.28E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88124	-2.34;-2.34;-2.34	5.27	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.90235	0.4282	9	.	.	.	.	14.4869	0.67624	0.0:0.0:0.8522:0.1478	.	174;148	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	148;148;174	ENSP00000300571:R148W;ENSP00000442858:R148W;ENSP00000441775:R174W	.	R	-	1	2	GPRC5B	19791227	0.997000	0.39634	0.859000	0.33776	0.948000	0.59901	4.463000	0.60128	1.445000	0.47624	0.650000	0.86243	CGG		TCGA-HZ-8636-01A-21D-2396-08	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	1	0	0	11	271	0	28	0	7.342855e-01	0	65	0	28	2		0	0	0	0	28	2	1	0.998222	11	265	0	28	2		0	0	0	0	28	2	-3.387955	1	1	121338	7	39	1	1	2	3	2.190921	0	0.410000	1.670000	0.417169	0.200000	0.100000	1.000000	0.190000	0.244835	0.200000	0	1.400000e-01	2.800000e-01
GNAO1	2775	broad.mit.edu	37	16	56362667	56362667	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:56362667G>A	ENST00000262493.6	+	4	1274	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	GNAO1_ENST00000262494.7_Missense_Mutation_p.R143Q	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O			17		all_neural(199;0.159)			TGCTTCAACCGGTCCCGGGAG	0.607000																								0							SO:0001583	missense			ENST00000262493.6	1	1	hg19	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486569	0.96323	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.90133	-2.62;-2.62	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.96	D	0.97114	0.9806	10	0.87932	D	0	.	18.1807	0.89777	0.0:0.0:1.0:0.0	.	143;143	P09471;P09471-2	GNAO_HUMAN;.	Q	143	ENSP00000262493:R143Q;ENSP00000262494:R143Q	ENSP00000262493:R143Q	R	+	2	0	GNAO1	54920168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.276000	0.75962	0.462000	0.41574	CGG		TCGA-HZ-8636-01A-21D-2396-08	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	1	0	1	80	259	0	41	0	9.560853e-01	0	19	0	41	2		0	0	0	0	41	2	1	1.000000	79	256	0	41	2		0	0	0	0	41	2	-4.547234	1	1	121412	2	31	1	1	2	3	2.183221	0	0.410000	1.670000	0.415986	0.990000	0.940000	1.000000	1.000000	0.997042	0.990000	1	9.900000e-01	1
BANP	54971	broad.mit.edu	37	16	88066732	88066732	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:88066732C>T	ENST00000393207.1	+	9	1278	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000355022.4_Missense_Mutation_p.P322S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein			12					GATGAGCACCCCACCTCCTGC	0.647000																								0							SO:0001583	missense			ENST00000393207.1	0	1	hg19	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	7.093	0.572586	0.13623	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	4.28	1.91	0.25777	.	0.524714	0.20730	N	0.086739	T	0.34106	0.0886	N	0.19112	0.55	0.28197	N	0.927508	B;B;B;D;B;B	0.76494	0.02;0.042;0.001;0.999;0.002;0.359	B;B;B;D;B;B	0.79784	0.024;0.08;0.001;0.993;0.002;0.167	T	0.17776	-1.0358	9	0.09590	T	0.72	.	6.988	0.24739	0.1477:0.4406:0.4117:0.0	.	361;328;322;353;322;322	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	S	353;328;318;322;322;322;322;361;353	.	ENSP00000286122:P353S	P	+	1	0	BANP	86624233	0.387000	0.25188	0.864000	0.33941	0.030000	0.12068	1.150000	0.31639	0.894000	0.36317	0.305000	0.20034	CCA		TCGA-HZ-8636-01A-21D-2396-08	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	1	0	0	13	195	0	19	0	7.620167e-01	1	41	0	19	2		0	0	0	0	19	2	1	0.999480	11	190	0	19	2		0	0	0	0	19	2	-3.320787	1	1	0	0		1	1	2	3	2.183221	0	0.410000	1.670000	0.415986	0.310000	0.170000	1.000000	0.310000	0.351914	0.310000	0	2.300000e-01	4.200000e-01
BZRAP1	9256	broad.mit.edu	37	17	56390036	56390036	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:56390036C>G	ENST00000343736.4	-	17	2309	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E716Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E656Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1			54	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GACACACGCTCTACAAAATTG	0.592000																								0							SO:0001583	missense			ENST00000343736.4	1	1	hg19	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825303	0.90955	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.35973	1.28;1.28;1.28	5.67	5.67	0.87782	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.50993	1.605	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.91635	0.993;0.999;0.996	T	0.52313	-0.8592	10	0.48119	T	0.1	.	18.7443	0.91787	0.0:1.0:0.0:0.0	.	716;656;716	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	716;716;656	ENSP00000347929:E716Q;ENSP00000345824:E716Q;ENSP00000268893:E656Q	ENSP00000268893:E656Q	E	-	1	0	BZRAP1	53745035	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.677000	0.91161	0.462000	0.41574	GAG		TCGA-HZ-8636-01A-21D-2396-08	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	1	0	1	21	211	0	39	1	5.077194e-01	2	16	0	39	2		0	0	0	0	39	2	1	0.999997	20	206	0	38	2		0	0	0	0	39	2	-2.966614	1	1	0	0		1	0	1	1	1.739719	1	0.410000	1.670000	0.257862	0.340000	0.220000	0.500000	0.350000	0.360096	0.340000	0	2.800000e-01	4.300000e-01
NEURL4	84461	broad.mit.edu	37	17	7225225	7225225	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7225225C>T	ENST00000399464.2	-	17	2845	c.2830G>A	c.(2830-2832)Gtc>Atc	p.V944I	NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4			34					GTACTGAAGACAAGGCCATGA	0.587000																								0							SO:0001583	missense			ENST00000399464.2	1	1	hg19	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070973	0.93950	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.41065	1.02;1.01	5.87	5.87	0.94306	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.76002	2.32	0.50039	D	0.999849	D;D	0.63046	0.99;0.992	D;D	0.77004	0.98;0.989	T	0.64820	-0.6317	10	0.49607	T	0.09	-27.2431	17.7017	0.88296	0.0:1.0:0.0:0.0	.	942;944	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	942;944	ENSP00000319826:V942I;ENSP00000382390:V944I	ENSP00000319826:V942I	V	-	1	0	NEURL4	7165949	0.999000	0.42202	0.975000	0.42487	0.983000	0.72400	4.024000	0.57218	2.781000	0.95711	0.655000	0.94253	GTC		TCGA-HZ-8636-01A-21D-2396-08	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	1	0	0	20	299	0	61	1	6.760828e-01	2	34	0	61	2		0	0	0	0	61	2	1	0.999995	20	294	0	61	2		0	0	0	0	61	2	-19.999660	1	1	0	0		1	0	1	1	1.687130	1	0.410000	1.670000	0.257862	0.240000	0.150000	0.360000	0.240000	0.251417	0.240000	0	1.900000e-01	3.000000e-01
OTOP3	347741	broad.mit.edu	37	17	72943167	72943167	+	Missense_Mutation	SNP	C	C	T	rs145029319		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:72943167C>T	ENST00000328801.4	+	6	1217	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3			23	all_lung(278;0.151)|Lung NSC(278;0.185)				GAGCTGGACACGGTCAAGAAC	0.607000																								0							SO:0001583	missense			ENST00000328801.4	1	1	hg19	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136971	0.37728	0.0	1.16E-4	ENSG00000182938	ENST00000328801	T	0.23147	1.92	4.54	3.56	0.40772	.	0.323633	0.28712	N	0.014395	T	0.43919	0.1269	M	0.68317	2.08	0.32154	N	0.58386	D	0.89917	1.0	D	0.79108	0.992	T	0.53774	-0.8391	10	0.59425	D	0.04	-16.305	7.4753	0.27371	0.1649:0.7493:0.0:0.0858	.	406	Q7RTS5	OTOP3_HUMAN	M	406	ENSP00000328090:T406M	ENSP00000328090:T406M	T	+	2	0	OTOP3	70454762	0.281000	0.24258	0.978000	0.43139	0.696000	0.40369	0.869000	0.27996	0.891000	0.36235	0.462000	0.41574	ACG		TCGA-HZ-8636-01A-21D-2396-08	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	1	0	1	33	279	0	52		0	0	0	0	52	2		0	0	0	0	52	2	1	1.000000	32	275	0	51	2		0	0	0	0	52	2	-12.919130	1	1	121412	1	36	1	0	2	2	1.916573	1	0.410000	1.670000	0.410000	0.520000	0.360000	1.000000	0.520000	0.571597	0.520000	0	4.400000e-01	6.600000e-01
SALL3	27164	broad.mit.edu	37	18	76754689	76754689	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754689T>G	ENST00000537592.2	+	2	2698	c.2698T>G	c.(2698-2700)Tcg>Gcg	p.S900A	SALL3_ENST00000536229.3_Missense_Mutation_p.S767A|SALL3_ENST00000575389.2_Missense_Mutation_p.S900A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3			74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)			GTCCGAGTCCTCGTCCTCGCA	0.731000																								0							SO:0001583	missense			ENST00000537592.2	0	1	hg19	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454670	0.26161	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	5.43	4.24	0.50183	.	0.000000	0.52532	D	0.000061	T	0.07279	0.0184	L	0.41824	1.3	0.53005	D	0.999964	B;P	0.41313	0.323;0.745	B;B	0.34931	0.19;0.192	T	0.36744	-0.9735	10	0.27785	T	0.31	-19.7823	12.4369	0.55604	0.0:0.0:0.1403:0.8597	.	632;900	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	900;900;632	ENSP00000441823:S900A	ENSP00000299466:S900A	S	+	1	0	SALL3	74855677	1.000000	0.71417	0.145000	0.22337	0.940000	0.58332	3.924000	0.56476	0.867000	0.35654	0.459000	0.35465	TCG		TCGA-HZ-8636-01A-21D-2396-08	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	0	0	0	5	182	0	19		0	0	0	0	19	2		0	0	0	0	19	2	1	0.917802	5	162	0	19	2		0	0	0	0	19	2	-7.544553	1	1	117834	1	31	1						0.410000	1.670000									0	0
SALL3	27164	broad.mit.edu	37	18	76754690	76754690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754690C>A	ENST00000537592.2	+	2	2699	c.2699C>A	c.(2698-2700)tCg>tAg	p.S900*	SALL3_ENST00000536229.3_Nonsense_Mutation_p.S767*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3			74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)			TCCGAGTCCTCGTCCTCGCAG	0.731000																								0							SO:0001587	stop_gained			ENST00000537592.2	0	1	hg19	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	47	13.299157	0.99733	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.43	4.54	0.55810	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.7823	15.3889	0.74726	0.1403:0.8597:0.0:0.0	.	.	.	.	X	900;900;632	.	ENSP00000299466:S900X	S	+	2	0	SALL3	74855678	1.000000	0.71417	0.146000	0.22360	0.920000	0.55202	4.704000	0.61831	1.251000	0.43983	0.561000	0.74099	TCG		TCGA-HZ-8636-01A-21D-2396-08	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	0	0	0	5	180	0	19		0	0	0	0	19	2		0	0	0	0	19	2	1	0.922295	5	164	0	19	2		0	0	0	0	19	2	-3.607852	1	1	117818	1	36	1						0.410000	1.670000									0	0
ATP4A	495	broad.mit.edu	37	19	36050774	36050774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:36050774C>T	ENST00000262623.3	-	7	1017	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GACCATGGCCCGCAGGAAGGT	0.582000																								0							SO:0001583	missense			ENST00000262623.3	1	1	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282969	0.59867	.	.	ENSG00000105675	ENST00000262623	D	0.88354	-2.37	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.181592	0.34223	N	0.004155	T	0.79203	0.4406	N	0.10874	0.06	0.36501	D	0.869005	B	0.27264	0.173	B	0.29716	0.106	T	0.80504	-0.1353	10	0.40728	T	0.16	.	13.5911	0.61961	0.0:1.0:0.0:0.0	.	330	P20648	ATP4A_HUMAN	Q	330	ENSP00000262623:R330Q	ENSP00000262623:R330Q	R	-	2	0	ATP4A	40742614	0.048000	0.20356	1.000000	0.80357	0.997000	0.91878	2.051000	0.41307	2.146000	0.66826	0.561000	0.74099	CGG		TCGA-HZ-8636-01A-21D-2396-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	1	0	1	54	207	0	56		0	0	0	0	56	2		0	0	0	0	56	2	1	1.000000	53	205	0	55	2		0	0	0	0	56	2	-3.510310	1	1	0	0		1	0	1	1	2.098773	0	0.410000	1.670000	0.388696	0.960000	0.750000	1.000000	1.000000	0.941553	0.960000	1	8.500000e-01	1
ZNF628	89887	broad.mit.edu	37	19	55993096	55993096	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:55993096G>C	ENST00000598519.1	+	3	1089	c.536G>C	c.(535-537)gGa>gCa	p.G179A	ZNF628_ENST00000391718.2_Missense_Mutation_p.G175A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628			7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)		TACACCTGTGGAGTCTGCGGG	0.711000																								0							SO:0001583	missense			ENST00000598519.1	1	1	hg19	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	5.185	0.219611	0.09863	.	.	ENSG00000197483	ENST00000391718	T	0.07114	3.22	3.62	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.308416	0.22071	U	0.065039	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.38779	-0.9645	10	0.20046	T	0.44	-4.2285	9.8863	0.41264	0.0:0.4083:0.5917:0.0	.	175	Q5EBL2	ZN628_HUMAN	A	175	ENSP00000375598:G175A	ENSP00000375598:G175A	G	+	2	0	ZNF628	60684908	0.003000	0.15002	0.064000	0.19789	0.009000	0.06853	1.406000	0.34646	0.845000	0.35118	0.484000	0.47621	GGA		TCGA-HZ-8636-01A-21D-2396-08	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	1	0	0	24	111	0	17	1	6.608511e-01	2	10	0	17	2		0	0	0	0	17	2	1	1.000000	23	109	0	17	2		0	0	0	0	17	2	-20.000000	1	1	0	0		1	1	2	3	2.174778	0	0.410000	1.670000	0.418347	0.890000	0.590000	1.000000	1.000000	0.874978	0.890000	1	7.300000e-01	1
ZNF71	58491	broad.mit.edu	37	19	57133444	57133444	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:57133444G>A	ENST00000328070.6	+	3	1023	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71			26					ACCAGCGCACGCACACCGGGG	0.677000																								0							SO:0001819	synonymous_variant			ENST00000328070.6	1	1	hg19	CCDS12947.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	1	0	0	32	395	0	47	1	6.899537e-01	4	27	0	47	2		0	0	0	0	47	2	1	1.000000	30	393	0	46	2		0	0	0	0	47	2	-20.000000	1	1	121356	2	34	1	1	2	3	2.174778	0	0.410000	1.670000	0.418347	0.370000	0.250000	1.000000	0.370000	0.413981	0.370000	0	3.100000e-01	4.600000e-01
SLC30A7	148867	broad.mit.edu	37	1	101379319	101379319	+	Silent	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:101379319T>C	ENST00000370112.4	+	6	799	c.612T>C	c.(610-612)caT>caC	p.H204H	SLC30A7_ENST00000357650.4_Silent_p.H204H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7			15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)			GTGCTGCACATAGCCATGATC	0.463000													NSCLC(91;473 1491 3102 16827 21633)											0							SO:0001819	synonymous_variant			ENST00000370112.4	1	1	hg19	CCDS776.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	1	0	1	78	211	0	54	1	9.993715e-01	19	14	0	54	2		0	0	0	0	54	2	1	1.000000	78	210	0	54	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	0	1	1	1.950430	1	0.410000	1.670000	0.338083	0.990000	0.950000	1.000000	1.000000	0.997389	0.990000	1	9.900000e-01	1
MTOR	2475	broad.mit.edu	37	1	11269497	11269497	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:11269497C>T	ENST00000361445.4	-	25	3749	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)			149				Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCCTCCTCTTCATCAGCAAGT	0.433000																								0							SO:0001583	missense			ENST00000361445.4	0	1	hg19	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733505	0.48939	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.67523	-0.27	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.72308	-0.4332	10	0.38643	T	0.18	-15.5656	20.3207	0.98668	0.0:1.0:0.0:0.0	.	1225	P42345	MTOR_HUMAN	K	1225	ENSP00000354558:E1225K	ENSP00000354558:E1225K	E	-	1	0	MTOR	11192084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.813000	0.96785	0.561000	0.74099	GAA		TCGA-HZ-8636-01A-21D-2396-08	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	0	0	0	21	1012	0	143	0	2.253097e-01	1	41	0	143	2		0	0	0	0	143	2	1	0.999997	20	998	0	143	2		0	0	0	0	143	2	-2.574860	1	1	0	0		1	0	1	1	1.981445	0	0.410000	1.670000	0.350041	0.080000	0.050000	0.130000	0.090000	0.093957	0.080000	0	6.000000e-02	1.100000e-01
CTSK	1513	broad.mit.edu	37	1	150776542	150776542	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:150776542C>G	ENST00000271651.3	-	5	683	c.573G>C	c.(571-573)aaG>aaC	p.K191N	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K			7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		TACCCCGGTTCTTCTGCACAT	0.493000																								0							SO:0001583	missense			ENST00000271651.3	1	1	hg19	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337959	0.41398	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.97710	-4.5;-4.5	5.57	1.37	0.22104	Peptidase C1A, papain C-terminal (2);	0.660593	0.16298	N	0.220576	D	0.89959	0.6866	L	0.39147	1.195	0.33900	D	0.638336	B	0.02656	0.0	B	0.06405	0.002	T	0.81263	-0.1012	10	0.44086	T	0.13	.	4.733	0.12974	0.0:0.4528:0.3003:0.2469	.	191	P43235	CATK_HUMAN	N	191;250	ENSP00000271651:K191N;ENSP00000405083:K250N	ENSP00000271651:K191N	K	-	3	2	CTSK	149043166	0.000000	0.05858	0.992000	0.48379	0.967000	0.64934	-0.585000	0.05794	0.303000	0.22785	-0.251000	0.11542	AAG		TCGA-HZ-8636-01A-21D-2396-08	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	1	0	0	59	746	0	122	0	1	0	1228	0	122	2		0	0	0	0	122	2	1	1.000000	58	734	0	122	2		0	0	0	0	122	2	-12.573230	1	1	0	0		1	2	4	6	2.593216	1	0.410000	1.670000	0.513683	0.440000	0.330000	1.000000	0.430000	0.542803	0.440000	0	3.800000e-01	1
RSC1A1	6248	broad.mit.edu	37	1	15987039	15987039	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:15987039G>A	ENST00000345034.1	+	1	676	c.676G>A	c.(676-678)Gat>Aat	p.D226N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1			11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)			ACAGAATGTGGATCCTCCAAG	0.428000																								0							SO:0001583	missense			ENST00000345034.1	1	1	hg19	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538146	0.04082	2.27E-4	0.0	ENSG00000215695	ENST00000345034	T	0.25749	1.78	5.61	2.6	0.31112	.	0.951788	0.08658	N	0.912835	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.31548	0.328	B	0.32465	0.146	T	0.33752	-0.9856	10	0.11485	T	0.65	-24.3955	4.6168	0.12430	0.0835:0.1587:0.6044:0.1534	.	226	Q92681	RSCA1_HUMAN	N	226	ENSP00000341963:D226N	ENSP00000341963:D226N	D	+	1	0	RSC1A1	15859626	0.004000	0.15560	0.065000	0.19835	0.041000	0.13682	1.461000	0.35255	0.668000	0.31126	0.561000	0.74099	GAT		TCGA-HZ-8636-01A-21D-2396-08	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	1	0	0	27	258	0	49	1	8.516301e-01	6	29	0	49	2		0	0	0	0	49	2	1	1.000000	25	255	0	49	2		0	0	0	0	49	2	-20.000000	1	1	121412	1	33	1	0	1	1	1.981445	0	0.410000	1.670000	0.350041	0.410000	0.280000	0.580000	0.420000	0.429200	0.410000	0	3.400000e-01	5.000000e-01
RPA2	6118	broad.mit.edu	37	1	28240605	28240605	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:28240605G>A	ENST00000373912.3	-	2	385	c.86C>T	c.(85-87)tCg>tTg	p.S29L	RPA2_ENST00000313433.7_Missense_Mutation_p.S117L|RPA2_ENST00000373909.3_Missense_Mutation_p.S37L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa			11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)			AGGTGCGGGCGATCCAAAGCC	0.502000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000373912.3	1	1	hg19	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057680	0.76074	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.26810	2.03;2.02;1.99;1.71	4.59	3.67	0.42095	.	0.184267	0.49305	D	0.000144	T	0.16896	0.0406	L	0.33485	1.01	0.40306	D	0.978667	P;B	0.39748	0.686;0.428	B;B	0.31290	0.127;0.087	T	0.04976	-1.0914	10	0.42905	T	0.14	-2.2818	12.0254	0.53367	0.0875:0.0:0.9124:0.0	.	29;37	P15927;P15927-2	RFA2_HUMAN;.	L	29;37;117;33	ENSP00000363021:S29L;ENSP00000363017:S37L;ENSP00000363015:S117L;ENSP00000387649:S33L	ENSP00000363015:S117L	S	-	2	0	RPA2	28113192	1.000000	0.71417	0.789000	0.31954	0.788000	0.44548	5.916000	0.69981	1.050000	0.40346	0.555000	0.69702	TCG		TCGA-HZ-8636-01A-21D-2396-08	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	1	0	1	20	223	0	32	1	9.996186e-01	16	128	0	32	2		0	0	0	0	32	2	1	0.999996	20	220	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.950430	1	0.410000	1.670000	0.338083	0.350000	0.220000	0.520000	0.350000	0.369699	0.350000	0	2.800000e-01	4.400000e-01
EPB41L1	2036	broad.mit.edu	37	20	34785959	34785959	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:34785959A>G	ENST00000338074.2	+	14	1825	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1			37	Breast(12;0.0239)				GAGAAAGCCAATGAGGTAGGT	0.597000																								0							SO:0001583	missense			ENST00000338074.2	1	1	hg19	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.414|0.414	-0.911860|-0.911860	0.02434|0.02434	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941;ENST00000454226	.|D;T;D;D;D;D	.|0.82526	.|-1.54;-1.47;-1.54;-1.62;-1.55;-1.55	5.15|5.15	-0.0314|-0.0314	0.13910|0.13910	.|.	.|0.285159	.|0.37857	.|N	.|0.001905	T|T	0.59155|0.59155	0.2173|0.2173	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0;0.001	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.08837	.|T	.|0.75	.|.	8.306|8.306	0.32042|0.32042	0.3337:0.138:0.5284:0.0|0.3337:0.138:0.5284:0.0	.|.	.|555;555;512;446;446;481	.|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|.;E41L1_HUMAN;.;.;.;.	V|S	121|481;446;555;446;481;512;129;555;555;53	.|ENSP00000202028:N481S;ENSP00000363061:N446S;ENSP00000399214:N481S;ENSP00000363057:N512S;ENSP00000337168:N555S;ENSP00000363052:N555S	.|ENSP00000202028:N481S	M|N	+|+	1|2	0|0	EPB41L1|EPB41L1	34249373|34249373	0.013000|0.013000	0.17824|0.17824	0.396000|0.396000	0.26296|0.26296	0.942000|0.942000	0.58702|0.58702	0.227000|0.227000	0.17795|0.17795	-0.280000|-0.280000	0.09154|0.09154	0.533000|0.533000	0.62120|0.62120	ATG|AAT		TCGA-HZ-8636-01A-21D-2396-08	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	1	0	1	34	194	0	27	1	9.999999e-01	41	112	0	27	2		0	0	0	0	27	2	1	1.000000	32	189	0	27	2		0	0	0	0	27	2	-20.000000	1	1	121366	5	35	1	0	1	1	1.949394	0	0.410000	1.670000	0.345608	0.650000	0.460000	0.860000	0.650000	0.663677	0.650000	0	5.500000e-01	7.600000e-01
CABIN1	23523	broad.mit.edu	37	22	24451432	24451432	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:24451432G>A	ENST00000398319.2	+	9	1288	c.903G>A	c.(901-903)tcG>tcA	p.S301S	CABIN1_ENST00000263119.5_Silent_p.S301S|CABIN1_ENST00000405822.2_Silent_p.S251S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1			65					TTGATTTGTCGGACTACCAGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000398319.2	1	1	hg19	CCDS13823.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	1	0	1	74	326	0	64	1	9.999866e-01	16	58	0	64	2		0	0	0	0	64	2	1	1.000000	73	320	0	64	2		0	0	0	0	64	2	-2.678476	1	1	121412	24	47	1	0	0	0	1.712291	1	0.410000	1.670000	0.257862	0.710000	0.570000	0.860000	0.710000	0.718257	0.710000	0	6.300000e-01	7.900000e-01
HMGXB4	10042	broad.mit.edu	37	22	35689619	35689619	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:35689619T>C	ENST00000216106.5	+	11	1909	c.1781T>C	c.(1780-1782)aTt>aCt	p.I594T	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4			19					TTAGACAACATTGCTTACATC	0.408000																								0							SO:0001583	missense			ENST00000216106.5	0	1	hg19	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756822	0.89843	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.34072	1.38;1.42	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62651	-0.6809	10	0.87932	D	0	-3.1144	16.4622	0.84064	0.0:0.0:0.0:1.0	.	594	Q9UGU5	HMGX4_HUMAN	T	485;594	ENSP00000398302:I485T;ENSP00000216106:I594T	ENSP00000216106:I594T	I	+	2	0	HMGXB4	34019619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.008000	0.88588	2.289000	0.77006	0.533000	0.62120	ATT		TCGA-HZ-8636-01A-21D-2396-08	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	0	0	0	7	423	0	55	1	4.239445e-01	2	78	0	55	2		0	0	0	0	55	2	1	0.979455	7	415	0	55	2		0	0	0	0	55	2	-6.768274	1	1	0	0		1	0	2	2	2.197826	1	0.410000	1.670000	0.410000	0.090000	0.030000	1.000000	0.080000	0.297454	0.090000	0	5.000000e-02	1
C1QTNF6	114904	broad.mit.edu	37	22	37578651	37578651	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:37578651C>T	ENST00000337843.2	-	3	489	c.414G>A	c.(412-414)ccG>ccA	p.P138P	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000397110.2_Silent_p.P138P	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6			11					GCTTCTGGCACGGGGCGCCGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000337843.2	1	1	hg19	CCDS13943.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	1	0	0	13	273	0	59	1	8.756727e-01	5	75	0	59	2		0	0	0	0	59	2	1	0.999524	13	269	0	58	2		0	0	0	0	59	2	-14.570890	1	1	121380	4	36	1	0	0	0	1.727643	1	0.410000	1.670000	0.265438	0.170000	0.090000	0.290000	0.180000	0.188627	0.170000	0	1.300000e-01	2.400000e-01
TPO	7173	broad.mit.edu	37	2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:1426892C>T	ENST00000345913.4	+	3	261	c.170C>T	c.(169-171)aCg>aTg	p.T57M	TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000382269.3_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000349624.3_Missense_Mutation_p.T57M|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T57M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592000																								0							SO:0001583	missense			ENST00000345913.4	1	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977929	0.53720	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	3.72	3.72	0.42706	.	0.376195	0.25383	N	0.031063	T	0.71837	0.3387	M	0.78801	2.425	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997	P;P;D;P;P	0.63703	0.862;0.796;0.917;0.862;0.714	T	0.63391	-0.6648	10	0.87932	D	0	-20.6374	11.2868	0.49226	0.0:1.0:0.0:0.0	.	57;57;57;57;57	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	M	57	ENSP00000371704:T57M;ENSP00000337263:T57M;ENSP00000318820:T57M;ENSP00000263886:T57M;ENSP00000332044:T57M;ENSP00000444840:T57M;ENSP00000329869:T57M;ENSP00000371636:T57M;ENSP00000390994:T57M;ENSP00000371633:T57M	ENSP00000329869:T57M	T	+	2	0	TPO	1405899	0.020000	0.18652	0.004000	0.12327	0.026000	0.11368	1.587000	0.36622	2.347000	0.79759	0.467000	0.42956	ACG		TCGA-HZ-8636-01A-21D-2396-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1	31	184	0	28		0	0	0	0	28	2		0	0	0	0	28	2	1	1.000000	31	181	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	0	1	1	2.005848	0	0.410000	1.670000	0.365796	0.650000	0.460000	0.870000	0.650000	0.663737	0.650000	0	5.500000e-01	7.700000e-01
LRP2	4036	broad.mit.edu	37	2	170070366	170070366	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170070366G>A	ENST00000263816.3	-	36	6126	c.5841C>T	c.(5839-5841)aaC>aaT	p.N1947N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTCCATCCACGTTTCCTCTTT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	0	61	229	0	44	0	0	0	1	0	44	2		0	0	0	0	44	2	1	1.000000	60	226	0	44	2		0	0	0	0	44	2	-20.000000	1	1	121402	2	31	1	0	0	0	2.029558	0	0.410000	1.670000	0.376783	0.960000	0.760000	1.000000	1.000000	0.942293	0.960000	1	8.600000e-01	1
ZNF804A	91752	broad.mit.edu	37	2	185802911	185802911	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:185802911G>C	ENST00000302277.6	+	4	3382	c.2788G>C	c.(2788-2790)Gac>Cac	p.D930H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A			146					AGAAGCAATTGACAATACCCT	0.378000																								0							SO:0001583	missense			ENST00000302277.6	1	1	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	3.883	-0.025550	0.07589	.	.	ENSG00000170396	ENST00000302277	T	0.06142	3.34	5.57	0.657	0.17850	.	1.003210	0.08031	N	0.993607	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	P	0.34780	0.468	B	0.35971	0.215	T	0.40850	-0.9541	10	0.62326	D	0.03	-0.8515	5.0665	0.14585	0.3841:0.2901:0.3258:0.0	.	930	Q7Z570	Z804A_HUMAN	H	930	ENSP00000303252:D930H	ENSP00000303252:D930H	D	+	1	0	ZNF804A	185511156	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.072000	0.14617	0.039000	0.15632	0.591000	0.81541	GAC		TCGA-HZ-8636-01A-21D-2396-08	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	0	38	446	0	74	0	1.866584e-02	0	3	0	74	2		0	0	0	0	74	2	1	1.000000	38	440	0	74	2		0	0	0	0	74	2	-20.000000	1	1	0	0		1	0	0	0	2.029558	0	0.410000	1.670000	0.376783	0.360000	0.250000	0.480000	0.360000	0.369321	0.360000	0	3.000000e-01	4.200000e-01
SDPR	8436	broad.mit.edu	37	2	192711597	192711597	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:192711597G>A	ENST00000304141.4	-	1	384	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response			23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		TTTTCCTGCCGCATGTCAGAC	0.607000																								0							SO:0001583	missense			ENST00000304141.4	0	1	hg19	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047252	0.07407	.	.	ENSG00000168497	ENST00000304141	T	0.64618	-0.11	4.84	1.97	0.26223	.	1.325690	0.04910	N	0.453002	T	0.42426	0.1202	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30621	-0.9972	10	0.44086	T	0.13	-0.3117	6.636	0.22883	0.0846:0.0:0.5985:0.317	.	19	O95810	SDPR_HUMAN	W	19	ENSP00000305675:R19W	ENSP00000305675:R19W	R	-	1	2	SDPR	192419842	0.008000	0.16893	0.127000	0.21898	0.208000	0.24298	1.612000	0.36889	0.304000	0.22809	0.555000	0.69702	CGG		TCGA-HZ-8636-01A-21D-2396-08	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	0	0	0	7	392	0	53	0	3.511390e-01	0	63	0	53	2		0	0	0	0	53	2	1	0.979563	7	385	0	53	2		0	0	0	0	53	2	-2.979026	1	1	0	0		1	0	0	0	2.029558	0	0.410000	1.670000	0.376783	0.080000	0.030000	0.160000	0.080000	0.091752	0.080000	0	5.000000e-02	1.200000e-01
OBSL1	23363	broad.mit.edu	37	2	220428119	220428119	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:220428119C>T	ENST00000404537.1	-	7	2694	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1					Renal(207;0.0376)			TCTCCAGCGACGCACTGAAAC	0.662000																								0							SO:0001583	missense			ENST00000404537.1	1	1	hg19	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186517	0.38609	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.69	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76593	0.4009	L	0.58810	1.83	0.09310	N	1	D;D;D;D	0.76494	0.998;0.999;0.989;0.991	D;D;P;P	0.68943	0.934;0.961;0.475;0.688	T	0.64871	-0.6305	9	0.34782	T	0.22	.	13.3942	0.60840	0.0:0.9118:0.0:0.0881	.	881;880;467;880	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	I	880;880;880;880;467	ENSP00000265318:V880I;ENSP00000385636:V880I;ENSP00000362983:V880I;ENSP00000362980:V880I;ENSP00000289656:V467I	ENSP00000265318:V880I	V	-	1	0	OBSL1	220136363	0.002000	0.14202	0.472000	0.27241	0.415000	0.31203	1.292000	0.33342	2.433000	0.82419	0.561000	0.74099	GTC		TCGA-HZ-8636-01A-21D-2396-08	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	1	0	0	12	163	0	31	1	9.996797e-01	5	196	0	31	2		0	0	0	0	31	2	1	0.999001	12	156	0	31	2		0	0	0	0	31	2	-16.539090	1	1	120994	5	34	1	0	0	0	2.029558	0	0.410000	1.670000	0.376783	0.320000	0.170000	0.510000	0.320000	0.335991	0.320000	0	2.400000e-01	4.200000e-01
KIF3C	3797	broad.mit.edu	37	2	26204102	26204102	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:26204102G>A	ENST00000264712.3	-	1	1264	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C			29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TCAGAGCCACGTTCGCTGCAC	0.627000																								0							SO:0001583	missense			ENST00000264712.3	1	1	hg19	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	9.272	1.045812	0.19748	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.75821	-0.97;-0.97	5.67	2.82	0.32997	Kinesin, motor domain (4);	0.419809	0.26915	N	0.021842	T	0.62865	0.2463	M	0.69463	2.115	0.25228	N	0.98986	D;P	0.54964	0.969;0.919	B;B	0.35899	0.213;0.213	T	0.61792	-0.6990	10	0.56958	D	0.05	.	5.0533	0.14520	0.1584:0.0:0.5619:0.2797	.	229;229	B7ZM25;O14782	.;KIF3C_HUMAN	C	229;35;229	ENSP00000264712:R229C;ENSP00000385030:R229C	ENSP00000264712:R229C	R	-	1	0	KIF3C	26057606	0.032000	0.19561	0.708000	0.30435	0.901000	0.52897	0.305000	0.19254	0.761000	0.33130	0.655000	0.94253	CGT		TCGA-HZ-8636-01A-21D-2396-08	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1	1	0	0	23	373	0	52	1	4.452233e-01	3	22	0	52	2		0	0	0	0	52	2	1	0.999999	23	367	0	52	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	1	1	2.005848	0	0.410000	1.670000	0.365796	0.260000	0.170000	0.380000	0.260000	0.272456	0.260000	0	2.100000e-01	3.200000e-01
DPYSL5	56896	broad.mit.edu	37	2	27156166	27156166	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:27156166C>T	ENST00000288699.6	+	7	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	p.S252L(1)		27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TCCAGTATCTCGGCTGGTGAC	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000288699.6	1	1	hg19	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303258	0.81136	0.0	1.16E-4	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90385	-2.66;-2.66	6.04	6.04	0.98038	Amidohydrolase 1 (1);	0.110781	0.64402	D	0.000007	D	0.87212	0.6121	L	0.48174	1.505	0.46478	D	0.999068	P	0.40360	0.714	B	0.31390	0.129	D	0.87568	0.2476	10	0.54805	T	0.06	-9.1882	19.3507	0.94384	0.0:1.0:0.0:0.0	.	252	Q9BPU6	DPYL5_HUMAN	L	252	ENSP00000288699:S252L;ENSP00000385549:S252L	ENSP00000288699:S252L	S	+	2	0	DPYSL5	27009670	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	4.261000	0.58841	2.873000	0.98535	0.561000	0.74099	TCG		TCGA-HZ-8636-01A-21D-2396-08	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	1	0	1	50	289	0	52		0	0	0	0	52	2		0	0	0	0	52	2	1	1.000000	50	287	0	52	2		0	0	0	0	52	2	-2.668736	1	1	121412	8	41	1	0	1	1	2.005848	0	0.410000	1.670000	0.365796	0.660000	0.500000	0.840000	0.670000	0.675241	0.660000	0	5.800000e-01	7.600000e-01
WNT7A	7476	broad.mit.edu	37	3	13860779	13860779	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:13860779C>T	ENST00000285018.4	-	4	1016	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A			24					ACAGGCTCCACGTGAACGGCC	0.602000																								0							SO:0001583	missense			ENST00000285018.4	1	1	hg19	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.255353	0.80135	.	.	ENSG00000154764	ENST00000285018	T	0.80994	-1.44	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	D	0.88867	0.3330	10	0.37606	T	0.19	.	16.889	0.86082	0.0:1.0:0.0:0.0	.	238	O00755	WNT7A_HUMAN	M	238	ENSP00000285018:V238M	ENSP00000285018:V238M	V	-	1	0	WNT7A	13835780	1.000000	0.71417	0.986000	0.45419	0.963000	0.63663	7.812000	0.86109	2.048000	0.60808	0.558000	0.71614	GTG		TCGA-HZ-8636-01A-21D-2396-08	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	1	0	0	43	428	0	57	1	9.920235e-01	5	71	0	57	2		0	0	0	0	57	2	1	1.000000	42	420	0	54	2		0	0	0	0	57	2	-20.000000	1	1	0	0		1	0	0	0	1.889187	1	0.410000	1.670000	0.330382	0.380000	0.280000	0.510000	0.390000	0.398102	0.380000	0	3.300000e-01	4.500000e-01
ATR	545	broad.mit.edu	37	3	142281392	142281392	+	Silent	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:142281392A>G	ENST00000350721.4	-	4	973	c.852T>C	c.(850-852)gaT>gaC	p.D284D	ATR_ENST00000383101.3_Silent_p.D284D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					ATTGGTCAGTATCCATTTCTA	0.348000								Other conserved DNA damage response genes																0							SO:0001819	synonymous_variant			ENST00000350721.4	1	1	hg19	CCDS3124.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	0	56	684	0	82	1	4.330305e-01	2	17	0	82	2		0	0	0	0	82	2	1	1.000000	55	679	0	82	2		0	0	0	0	82	2	-20.000000	1	1	0	0		1	1	2	3	2.293405	1	0.410000	1.670000	0.443107	0.400000	0.300000	1.000000	0.390000	0.515835	0.400000	0	3.400000e-01	1
SCN5A	6331	broad.mit.edu	37	3	38593036	38593036	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:38593036C>T	ENST00000333535.4	-	28	4976	c.4827G>A	c.(4825-4827)tcG>tcA	p.S1609S	SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000413689.1_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000455624.2_Silent_p.S1576S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000449557.2_Silent_p.S1555S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Silent_p.S1591S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGATGATGTCCGAGAGCACAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	68	354	0	72		0	0	0	0	72	2		0	0	0	0	72	2	1	1.000000	66	344	0	72	2		0	0	0	0	72	2	-2.277746	0	1	0	0		1	0	0	0	1.889187	1	0.410000	1.670000	0.330382	0.680000	0.540000	0.840000	0.690000	0.696092	0.680000	0	6.100000e-01	7.700000e-01
PALLD	23022	broad.mit.edu	37	4	169837051	169837051	+	Missense_Mutation	SNP	G	G	A	rs114171764	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:169837051G>A	ENST00000505667.1	+	17	2896	c.2723G>A	c.(2722-2724)cGt>cAt	p.R908H	PALLD_ENST00000261509.6_Missense_Mutation_p.R891H|PALLD_ENST00000507735.1_Missense_Mutation_p.R404H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H|PALLD_ENST00000335742.7_Missense_Mutation_p.R733H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein			48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)			TCAAGGCCTCGTTCTAGATCA	0.393000									Pancreatic Cancer, Familial Clustering of				Esophageal Squamous(109;1482 1532 18347 40239 51172)											0							SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	ENST00000505667.1	1	1	hg19	CCDS54818.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.7	4.660793	0.88154	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.66638	-0.19;-0.22;0.12;-0.12;0.16	5.68	5.68	0.88126	.	0.000000	0.31859	U	0.006948	T	0.81138	0.4760	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71656	0.974;0.959;0.959;0.974	T	0.80525	-0.1344	10	0.51188	T	0.08	.	19.7942	0.96472	0.0:0.0:1.0:0.0	.	908;1115;509;891	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	H	891;733;908;509;404	ENSP00000261509:R891H;ENSP00000336735:R733H;ENSP00000425556:R908H;ENSP00000426947:R509H;ENSP00000424016:R404H	ENSP00000261509:R891H	R	+	2	0	PALLD	170073626	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.869000	0.99810	2.684000	0.91462	0.313000	0.20887	CGT		TCGA-HZ-8636-01A-21D-2396-08	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	1	0	1	110	249	0	53	1	1	67	664	0	53	2		0	0	0	0	53	2	1	1.000000	108	245	0	53	2		0	0	0	0	53	2	-20.000000	1	1	121410	25	44	1	0	2	2	2.155429	1	0.410000	1.670000	0.410000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TSSK1B	83942	broad.mit.edu	37	5	112770240	112770240	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:112770240G>A	ENST00000390666.3	-	1	488	c.297C>T	c.(295-297)ctC>ctT	p.L99L	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B			13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)			TGATTAACTCGAGGAGGTCGC	0.537000																								0							SO:0001819	synonymous_variant			ENST00000390666.3	1	1	hg19	CCDS4112.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	0	0	0	10	235	0	47		0	0	0	0	47	2		0	0	0	0	47	2	1	0.996795	10	231	0	47	2		0	0	0	0	47	2	-11.596390	1	1	0	0		1	0	0	0	1.958709	0	0.410000	1.670000	0.351506	0.180000	0.090000	0.310000	0.180000	0.196161	0.180000	0	1.300000e-01	2.500000e-01
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:150660632C>G	ENST00000335230.3	-	9	1498	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3			21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GCCCAGCTCTCTGACACTTGG	0.507000																								0							SO:0001583	missense			ENST00000335230.3	1	1	hg19	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070848	0.36566	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02197	4.4;4.4	4.06	4.06	0.47325	.	0.363547	0.29752	N	0.011295	T	0.04003	0.0112	L	0.57130	1.785	0.38876	D	0.956801	B;B;B	0.33777	0.041;0.425;0.109	B;B;B	0.36378	0.07;0.223;0.061	T	0.54016	-0.8356	10	0.15952	T	0.53	.	16.7998	0.85611	0.0:1.0:0.0:0.0	.	404;363;348	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	Q	363;404	ENSP00000334750:E363Q;ENSP00000366942:E404Q	ENSP00000334750:E363Q	E	-	1	0	SLC36A3	150640825	0.985000	0.35326	0.994000	0.49952	0.828000	0.46876	3.426000	0.52778	2.249000	0.74217	0.561000	0.74099	GAG		TCGA-HZ-8636-01A-21D-2396-08	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	1	0	0	31	295	0	62		0	0	0	0	62	2		0	0	0	0	62	2	1	1.000000	29	290	0	62	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	0	0	0	1.958709	0	0.410000	1.670000	0.351506	0.420000	0.290000	0.570000	0.420000	0.430537	0.420000	0	3.500000e-01	5.000000e-01
FBXL7	23194	broad.mit.edu	37	5	15937245	15937245	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:15937245C>T	ENST00000504595.1	+	4	1907	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	p.R476C(1)		60					CTTTGTCAAACGCCACTGCAA	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000504595.1	0	1	hg19	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928841	0.92389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54866	0.55;0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.56216	0.794	T	0.69250	-0.5194	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	476	Q9UJT9	FBXL7_HUMAN	C	476;429;464	ENSP00000423630:R476C;ENSP00000425184:R429C;ENSP00000329632:R464C	ENSP00000329632:R464C	R	+	1	0	FBXL7	15990245	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.731000	0.84895	2.521000	0.84997	0.650000	0.86243	CGC		TCGA-HZ-8636-01A-21D-2396-08	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	0	0	0	5	124	0	18	0	3.453894e-01	0	27	0	18	2		0	0	0	0	18	2	1	0.937520	5	123	0	18	2		0	0	0	0	18	2	-9.976643	1	1	0	0		1	0	1	1	1.994765	0	0.410000	1.670000	0.365796	0.180000	0.070000	0.370000	0.170000	0.205078	0.180000	0	1.200000e-01	2.800000e-01
BTF3	689	broad.mit.edu	37	5	72798334	72798334	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798334A>G	ENST00000335895.8	+	3	242	c.91A>G	c.(91-93)Aag>Gag	p.K31E	BTF3_ENST00000380591.3_Missense_Mutation_p.K75E|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3			5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)			CAGAAAGAAGAAGGTGGTTCA	0.383000																								0							SO:0001583	missense			ENST00000335895.8	1	1	hg19	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119843	0.94385	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.55401	0.1918	M	0.64404	1.975	0.80722	D	1	P	0.36647	0.563	B	0.32022	0.139	T	0.62320	-0.6879	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	E	31;75	.	ENSP00000338516:K31E	K	+	1	0	BTF3	72834090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG		TCGA-HZ-8636-01A-21D-2396-08	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	1	0	1	32	161	0	36	1	1	707	1848	0	36	2		0	0	0	0	36	2	1	1.000000	28	168	0	36	2		0	0	0	0	36	2	-18.024930	1	1	0	0		1	0	0	0	1.958709	0	0.410000	1.670000	0.351506	0.730000	0.520000	0.970000	0.730000	0.742879	0.730000	0	6.200000e-01	8.600000e-01
BTF3	689	broad.mit.edu	37	5	72798335	72798335	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798335A>T	ENST00000335895.8	+	3	243	c.92A>T	c.(91-93)aAg>aTg	p.K31M	BTF3_ENST00000380591.3_Missense_Mutation_p.K75M|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3			5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)			AGAAAGAAGAAGGTGGTTCAT	0.388000																								0							SO:0001583	missense			ENST00000335895.8	1	1	hg19	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775465	0.90108	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.77412	0.4126	M	0.81112	2.525	0.80722	D	1	D	0.64830	0.994	P	0.58391	0.838	T	0.81335	-0.0979	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	M	31;75	.	ENSP00000338516:K31M	K	+	2	0	BTF3	72834091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG		TCGA-HZ-8636-01A-21D-2396-08	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	1	0	1	32	158	0	36	1	1	701	1848	0	36	2		0	0	0	0	36	2	1	1.000000	28	164	0	36	2		0	0	0	0	36	2	-18.228150	1	0	0	0		1	0	0	0	1.958709	0	0.410000	1.670000	0.351506	0.740000	0.530000	0.980000	0.750000	0.754032	0.740000	0	6.300000e-01	8.700000e-01
POU5F2	134187	broad.mit.edu	37	5	93077092	93077092	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:93077092C>T	ENST00000510627.4	-	1	251	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2					all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			ATCCTCCACACGTCAGGGCCT	0.672000																								0							SO:0001583	missense			ENST00000510627.4	0	1	hg19	CCDS59489.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	1	0	0	10	137	0	15		0	0	0	0	15	2		0	0	0	0	15	2	1	0.997200	10	137	0	15	2		0	0	0	0	15	2	-14.615780	1	1	0	0		1	0	0	0	1.958709	0	0.410000	1.670000	0.351506	0.300000	0.150000	0.510000	0.300000	0.323557	0.300000	0	2.200000e-01	4.100000e-01
FKBP5	2289	broad.mit.edu	37	6	35604901	35604901	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35604901G>A	ENST00000539068.1	-	3	342	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FKBP5_ENST00000542713.1_Missense_Mutation_p.P47L|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5			17					TCCAATCATCGGCGTTTCCTC	0.338000																								0							SO:0001583	missense			ENST00000539068.1	1	1	hg19	CCDS4808.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.0	4.879464	0.91740	0.0	2.33E-4	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.38	5.38	0.77491	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.88558	0.3121	10	0.87932	D	0	-13.9393	16.0837	0.81023	0.0:0.0:1.0:0.0	.	47;47	F5H7R1;Q13451	.;FKBP5_HUMAN	L	47;47;47;47;10;47;45	ENSP00000444810:P47L;ENSP00000349811:P47L;ENSP00000441205:P47L;ENSP00000442340:P47L	ENSP00000338160:P47L	P	-	2	0	FKBP5	35712879	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	8.309000	0.89969	2.515000	0.84797	0.655000	0.94253	CCG		TCGA-HZ-8636-01A-21D-2396-08	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2	0	0	0	12	331	0	39	0	8.618237e-01	0	100	0	39	2		0	0	0	0	39	2	1	0.999125	12	329	0	39	2		0	0	0	0	39	2	-2.747154	1	1	121410	8	42	1	0	3	3	2.354674	1	0.410000	1.670000	0.453678	0.200000	0.100000	1.000000	0.190000	0.382540	0.200000	0	1.400000e-01	1
ECI2	10455	broad.mit.edu	37	6	4119468	4119468	+	Silent	SNP	C	C	T	rs114924821		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:4119468C>T	ENST00000380118.3	-	8	873	c.837G>A	c.(835-837)ccG>ccA	p.P279P	ECI2_ENST00000413766.2_Silent_p.P112P|ECI2_ENST00000380125.2_Silent_p.P249P|ECI2_ENST00000465828.1_Silent_p.P249P|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000361538.2_Silent_p.P249P|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2			11					AGCATCCTTCCGGACTTTGGC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000380118.3	1	1	hg19	CCDS43420.2																																																																																				TCGA-HZ-8636-01A-21D-2396-08	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	1	0	1	27	233	0	53	1	9.998485e-01	6	114	0	53	2		0	0	0	0	53	2	1	1.000000	26	228	0	53	2		0	0	0	0	53	2	-2.429501	0	1	121412	11	43	1	0	0	0	1.891332	1	0.410000	1.670000	0.330382	0.440000	0.300000	0.610000	0.440000	0.455766	0.440000	0	3.600000e-01	5.300000e-01
TRPV6	55503	broad.mit.edu	37	7	142574925	142574925	+	Missense_Mutation	SNP	G	G	A	rs148239732		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:142574925G>A	ENST00000359396.3	-	4	702	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				GGACTACGGCGGAAGGCAGTG	0.622000																								0							SO:0001583	missense			ENST00000359396.3	1	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	2.27E-4	0.0	ENSG00000165125	ENST00000359396	T	0.53640	0.61	3.86	0.902	0.19290	Ankyrin repeat-containing domain (3);	0.461329	0.22855	N	0.054809	T	0.27933	0.0688	N	0.24115	0.695	0.41057	D	0.985342	B	0.18863	0.031	B	0.21546	0.035	T	0.05716	-1.0868	10	0.46703	T	0.11	-1.2388	3.8826	0.09085	0.3834:0.0:0.4439:0.1726	.	153	Q9H1D0	TRPV6_HUMAN	C	153	ENSP00000352358:R153C	ENSP00000352358:R153C	R	-	1	0	TRPV6	142285047	0.951000	0.32395	0.502000	0.27614	0.877000	0.50540	1.532000	0.36029	0.307000	0.22880	0.655000	0.94253	CGC		TCGA-HZ-8636-01A-21D-2396-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	1	0	1	81	283	0	51	1	9.433976e-01	9	10	0	51	2		0	0	0	0	51	2	1	1.000000	80	278	0	50	2		0	0	0	0	51	2	-3.619015	1	1	121412	4	38	1	0	0	0	2.126706	0	0.410000	1.670000	0.405122	0.990000	0.870000	1.000000	1.000000	0.986949	0.990000	1	9.600000e-01	1
NUPL2	11097	broad.mit.edu	37	7	23221735	23221735	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:23221735C>G	ENST00000258742.5	+	1	290	c.31C>G	c.(31-33)Cgg>Ggg	p.R11G	AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Missense_Mutation_p.R11G	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2			19					CCTTCAAGGCCGGTGCCGCTT	0.612000																								0							SO:0001583	missense			ENST00000258742.5	1	1	hg19	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173319	0.57584	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.47528	0.84;0.84;0.84	5.14	3.29	0.37713	Zinc finger, CCCH-type (1);	0.129374	0.51477	D	0.000094	T	0.59770	0.2218	M	0.67700	2.07	0.45676	D	0.99859	D	0.76494	0.999	D	0.68943	0.961	T	0.57871	-0.7736	10	0.48119	T	0.1	-13.7234	6.8112	0.23805	0.2509:0.6099:0.0:0.1392	.	11	O15504	NUPL2_HUMAN	G	11	ENSP00000258742:R11G;ENSP00000387330:R11G;ENSP00000401475:R11G	ENSP00000258742:R11G	R	+	1	2	NUPL2	23188260	1.000000	0.71417	0.871000	0.34182	0.994000	0.84299	1.853000	0.39358	0.825000	0.34637	0.655000	0.94253	CGG		TCGA-HZ-8636-01A-21D-2396-08	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	1	0	1	59	169	0	25	1	9.997790e-01	11	29	0	25	2		0	0	0	0	25	2	1	1.000000	58	169	0	25	2		0	0	0	0	25	2	-20.000000	1	0	0	0		1	1	2	3	2.162848	0	0.410000	1.670000	0.412409	0.990000	0.990000	1.000000	1.000000	0.998939	0.990000	1	9.900000e-01	1
PCLO	27445	broad.mit.edu	37	7	82544266	82544266	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:82544266G>T	ENST00000333891.9	-	7	13373	c.13036C>A	c.(13036-13038)Caa>Aaa	p.Q4346K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					CCTCTACTTTGACTAATTGGC	0.488000																								0							SO:0001583	missense			ENST00000333891.9	1	1	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459440	0.63401	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18338	2.22;2.22	5.61	5.61	0.85477	.	.	.	.	.	T	0.43700	0.1259	M	0.68593	2.085	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.81914	0.98;0.995;0.995	T	0.27806	-1.0063	9	0.87932	D	0	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	4277;4346;4346	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4346;4346;1066	ENSP00000334319:Q4346K;ENSP00000388393:Q4346K	ENSP00000334319:Q4346K	Q	-	1	0	PCLO	82382202	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.869000	0.99810	2.651000	0.90000	0.557000	0.71058	CAA		TCGA-HZ-8636-01A-21D-2396-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0	39	383	0	57	1	1.713584e-01	3	5	0	57	2		0	0	0	0	57	2	1	1.000000	39	377	0	55	2		0	0	0	0	57	2	-12.399780	1	1	0	0		1	1	2	3	2.162848	0	0.410000	1.670000	0.412409	0.450000	0.320000	0.620000	0.450000	0.465807	0.450000	0	3.800000e-01	5.300000e-01
EHMT1	79813	broad.mit.edu	37	9	140648742	140648742	+	Splice_Site	SNP	C	C	T	rs45450992	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:140648742C>T	ENST00000460843.1	+	8	1395	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Splice_Site_p.L456L|EHMT1_ENST00000334856.6_Splice_Site_p.L425L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1			41	all_cancers(76;0.164)				GCGGTGCCCTCGGTAAATGCC	0.577000																								0							SO:0001630	splice_region_variant			ENST00000460843.1	1	0	hg19	CCDS7050.2																																																																																				TCGA-HZ-8636-01A-21D-2396-08	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	0	0	1	46	314	0	43	1	9.973912e-01	15	49	0	43	2		0	0	0	0	43	2	1	1.000000	45	311	0	43	2		0	0	0	0	43	2	-2.710216	1	1	121412	8665	71	1	0	0	0	1.982324	0	0.410000	1.670000	0.360156	0.570000	0.420000	0.730000	0.570000	0.581127	0.570000	0	4.900000e-01	6.600000e-01
SASH3	54440	broad.mit.edu	37	X	128927070	128927070	+	Silent	SNP	C	C	A	rs142835579		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	p.R303R(1)		12					TCCACAGCACCGGGCCAAGCT	0.587000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000356892.3	1	1	hg19	CCDS14614.1																																																																																				TCGA-HZ-8636-01A-21D-2396-08	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	1	0	1	92	366	0	74	0	9.884624e-01	0	30	0	74	2		0	0	0	0	74	2	1	1.000000	91	359	0	74	2		0	0	0	0	74	2	-3.176236	1	1	121410	4	39	1	0	1	1			0.410000	1.670000	0.410000	0.970000	0.800000	1.000000	1.000000	0.954390	0.970000	1	8.800000e-01	1
SPANXC	64663	broad.mit.edu	37	X	140335774	140335774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:140335774C>T	ENST00000358993.2	-	2	208	c.170G>A	c.(169-171)aGg>aAg	p.R57K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C			6	Acute lymphoblastic leukemia(192;7.65e-05)				TTTCACGTTCCTCCTGTAGCG	0.502000																								0							SO:0001583	missense			ENST00000358993.2	1	1	hg19	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	9.847	1.192504	0.21954	.	.	ENSG00000198573	ENST00000358993	T	0.05925	3.37	.	.	.	.	.	.	.	.	T	0.09818	0.0241	N	0.25485	0.75	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.33523	-0.9865	7	0.12766	T	0.61	.	.	.	.	.	57	Q9NY87	SPNXC_HUMAN	K	57	ENSP00000351884:R57K	ENSP00000351884:R57K	R	-	2	0	SPANXC	140163440	0.024000	0.19004	0.009000	0.14445	0.009000	0.06853	0.064000	0.14437	0.328000	0.23435	0.330000	0.21533	AGG		TCGA-HZ-8636-01A-21D-2396-08	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	0	0	0	262	1500	0	275		0	0	0	0	275	2		0	0	0	0	275	2	1	1.000000	226	1290	0	327	2		0	0	0	0	275	2	-3.017764	1	1	114528	1	32	1	0	1	1			0.410000	1.670000	0.410000	0.720000	0.640000	0.800000	0.720000	0.726684	0.720000	0	6.700000e-01	7.700000e-01
DNASE1L1	1774	broad.mit.edu	37	X	153631476	153631476	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153631476C>T	ENST00000393638.1	-	7	867	c.581G>A	c.(580-582)cGc>cAc	p.R194H	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R194H|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CTTGTCCAGGCGCTTTTTGGT	0.612000																								0							SO:0001583	missense			ENST00000393638.1	1	1	hg19	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278287	0.23307	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;1.41	5.11	3.35	0.38373	Endonuclease/exonuclease/phosphatase (2);	0.664814	0.16178	N	0.225967	T	0.65344	0.2682	L	0.27053	0.805	0.26742	N	0.970362	B	0.32160	0.358	B	0.30105	0.111	T	0.52419	-0.8578	10	0.27785	T	0.31	-14.5753	6.7231	0.23340	0.0:0.698:0.0:0.302	.	194	P49184	DNSL1_HUMAN	H	194	ENSP00000358824:R194H;ENSP00000377255:R194H;ENSP00000014935:R194H;ENSP00000358823:R194H;ENSP00000358822:R194H;ENSP00000309168:R194H;ENSP00000393346:R194H	ENSP00000014935:R194H	R	-	2	0	DNASE1L1	153284670	1.000000	0.71417	0.726000	0.30738	0.133000	0.20885	1.655000	0.37345	0.398000	0.25338	0.597000	0.82753	CGC		TCGA-HZ-8636-01A-21D-2396-08	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2	1	0	1	156	471	0	77	0	1	0	218	0	77	2		0	0	0	0	77	2	1	1.000000	156	468	0	75	2		0	0	0	0	77	2	-20.000000	1	1	121404	1	41	1	0	1	1			0.410000	1.670000	0.410000	0.990000	0.990000	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
GAB3	139716	broad.mit.edu	37	X	153927709	153927709	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153927709C>A	ENST00000369575.3	-	6	1233	c.1202G>T	c.(1201-1203)gGt>gTt	p.G401V	GAB3_ENST00000424127.2_Missense_Mutation_p.G402V|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3			25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				ACCAGAGGCACCAGCCTGGGG	0.547000																								0							SO:0001583	missense			ENST00000369575.3	1	1	hg19	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341281	0.24339	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.16073	2.37;2.37;2.37	5.85	-4.34	0.03666	.	1.256530	0.05135	N	0.493327	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35226	-0.9797	10	0.51188	T	0.08	-22.0678	6.7413	0.23437	0.3925:0.3004:0.3071:0.0	.	402;402;401	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	V	401;402;402	ENSP00000358588:G401V;ENSP00000358581:G402V;ENSP00000399588:G402V	ENSP00000358581:G402V	G	-	2	0	GAB3	153580903	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	0.182000	0.16900	-1.830000	0.01199	-1.178000	0.01721	GGT		TCGA-HZ-8636-01A-21D-2396-08	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	1	0	0	27	631	0	90	0	1.178356e-01	0	14	0	90	2		0	0	0	0	90	2	1	1.000000	26	623	0	90	2		0	0	0	0	90	2	-19.999990	1	1	0	0		1	0	1	1			0.410000	1.670000	0.410000	0.190000	0.130000	0.280000	0.200000	0.206480	0.190000	0	1.600000e-01	2.400000e-01
MAGEB1	4112	broad.mit.edu	37	X	30269599	30269599	+	Missense_Mutation	SNP	C	C	T	rs145293151		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:30269599C>T	ENST00000378981.3	+	4	1310	c.989C>T	c.(988-990)aCg>aTg	p.T330M	MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1			32					ACTACTGCCACGACTTTTAGA	0.527000																								0							SO:0001583	missense			ENST00000378981.3	1	1	hg19	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	1.310	-0.602440	0.03744	0.0	1.49E-4	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01629	4.72;4.72;4.72	3.09	-6.18	0.02085	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.19666	0.026	T	0.27806	-1.0063	9	0.31617	T	0.26	.	2.6292	0.04939	0.1313:0.4097:0.2575:0.2015	.	330	P43366	MAGB1_HUMAN	M	330	ENSP00000368264:T330M;ENSP00000380683:T330M;ENSP00000380681:T330M	ENSP00000368264:T330M	T	+	2	0	MAGEB1	30179520	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.555000	0.00925	-4.807000	0.00031	-1.407000	0.01130	ACG		TCGA-HZ-8636-01A-21D-2396-08	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	0	0	1	80	398	1	62		0	0	0	1	62	2		0	0	0	1	62	2	1	1.000000	79	396	1	61	24		0	0	0	1	62	2	-20.000000	1	1	121410	6	38	1	0	1	1			0.410000	1.670000	0.410000	0.810000	0.650000	0.980000	0.820000	0.820031	0.810000	0	7.300000e-01	9.000000e-01
SRPX2	27286	broad.mit.edu	37	X	99924269	99924269	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:99924269C>T	ENST00000373004.3	+	10	1548	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2			19					ACTGGATTTGCGGCATGTGAC	0.552000																								0							SO:0001583	missense			ENST00000373004.3	1	1	hg19	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905934	0.72868	0.0	1.49E-4	ENSG00000102359	ENST00000373004	T	0.73897	-0.79	5.39	3.55	0.40652	.	0.106917	0.64402	D	0.000003	D	0.86024	0.5834	M	0.83223	2.63	0.51767	D	0.999933	D	0.89917	1.0	D	0.85130	0.997	D	0.85856	0.1407	9	.	.	.	-2.9549	13.6078	0.62058	0.299:0.701:0.0:0.0	.	374	O60687	SRPX2_HUMAN	W	374	ENSP00000362095:R374W	.	R	+	1	2	SRPX2	99810925	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	0.863000	0.27913	0.429000	0.26202	0.596000	0.82720	CGG		TCGA-HZ-8636-01A-21D-2396-08	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	0	0	0	7	311	0	36	0	6.082881e-01	0	87	0	36	2		0	0	0	0	36	2	1	0.980020	7	307	0	36	2		0	0	0	0	36	2	-3.159425	1	1	121410	4	33	1	0	1	1			0.410000	1.670000	0.410000	0.110000	0.040000	0.210000	0.100000	0.121384	0.110000	0	7.000000e-02	1.600000e-01
